Life with Rhombencephalosynapsis

Abs in her walker

2012-02-12T06:58:00.000-08:00

Mechanicrawl

2012-02-10T06:21:00.000-08:00

During the course of Abby's PT she took a lot of weird paths. She could do more difficult things before she could do simpler things. For instance she could sit up (in a Boppy) before she could roll over. It was all part of the way "she is wired". When she started to crawl (at around 13 or 14 months) we were amazed at her progress. We didn't think she would crawl for a couple more months but she decided she was ready.

The funny part was that when she crawled she looked like a robot. It was mostly because it was a completely "taught" skill. We had spent months working on it in PT and teacher her how to manipulate her body so when she finally crawled it was a mechanical motion... not the natural one of most babies.

We fondly named it "The MechaniCrawl"

**Hope you enjoyed the bonus material of the Grace temper tantrum. :D

Early PT

2012-02-02T06:15:00.000-08:00

A lot of people, in the past, asked a lot of questions about what PT looked like for a baby. We think of physical therapy in terms of building muscle and training our bodies. But when you are working with a six month old how can this possibly be done. In Abby's life she has had four physical therapists and each has approached her "condition" a little different. Some insisted on pushing her (which we LOVE). Some let her off the hook more than we would like. But all have done pretty amazing things with her development.

I recently came across some old video's of us working on her PT at home. She was about 8 months old here and working on rolling over.

And, yes... we were using food as a motivator. :D It doesn't look like much but it is a specific body motion geared towards rolling over.

This one is from when we were teaching her to sit up on her own. She was about 13 months when she mastered this skill. It was a completely taught skill. She had no ability to do this on her own.

The last one is at 13 months working on sitting up from laying down.

Language Development

2012-02-01T06:27:00.000-08:00

On to the next question I wanted to get to. Language development...

When I was pregnant with the girls I was told that Abby might never speak. Because of this we spent some time learning how to use basic sign language. As the girls got older they learned to sign beautifully. They were able to communicate their basic needs with their hands. It was great!

We were very surprised when Abby started to talk. AND TALK AND TALK AND TALK! (Oddly Grace ended up being the one who needed help with her speech.) Once she started talking she never stopped. LITERALLY! The kid talks and talks and talks, non-stop.

At one point she developed what they called an ataxic stutter. She would mildly stutter many of her words. Thankfully it remit before she ever needed speech therapy. Now she gets speech therapy only in the form of a speech group at school.

So all in all speech development was one of the few areas that Abby excelled in from early on. I guess what you lack in one area you DO make up for in another. :D

Prayers for a little girl with Rhombencephalosynapsis

2012-01-27T05:45:00.000-08:00

As a Mom of a special needs child I have learned (even more than before) to rely on my faith. Abby is a miracle and we realize how lucky we are. God has done amazing things in the lives of our families and He continues to do so on a daily basis.

Recently I was contacted by a woman who is in the process (along with her husband) of trying to adopt a little girl with RS. I don't want to violate her privacy by giving names or details but the long and short is that the state and the adoption agency are making it difficult for this family to become parents of this little girl.

I am asking that you keep this family in your prayers. This couple is well informed about RS and this little girl deserves a family. Pray that they will all be together soon!

Questions asked

2012-01-23T18:26:00.000-08:00

I am a member of an online group of parents raising children with Rhombencephalosynapsis. It is a wonderful place to compare notes, ask questions, gather information, etc. I consider it a very valuable resource. Recently a new member has joined and she has been a delight. She asks plenty of questions and drums up a TON of great conversation with all of the members. Many of her questions have lead to some thoughts about great potential posts. They are all things that new RS parents might want to know about.

So I am going to try to spend some time posting about these questions and our experiences with these topics.

The first topic was when our children started walking. Here is our experience...

Abby didn't meet any of her milestones on time. NOT ONE! We had her in physical therapy from the time she was 4 months old because of this. By the time she was 18 months she was FINALLY crawling, rolling over and starting to stand up. It was a long road to get her there but we got there. Unfortunately there was minimal effort to walk.

Because we had spent so much of her life playing catch up I decided it was time to be proactive. I researched, I consulted, I talked to our PT and docs. Then I got Abby a walker.

People constantly stared, asked questions, prodded, etc. It drove us a little nuts. She was so tiny for her age they had no idea she needed the walker. COmplaining aside it was amazing for her. She only needed it for a few months and she had made so much progress she started walking on her own. At almost 22 months she walked!

Oops... my filter broke

2012-01-20T04:21:00.000-08:00

One of the challenges of being Abby's parents is dealing with her lack of a "filter". You know, that thing that tells you either don't do that or don't say that. It will often manifest as her smart-a$$ comments to us when we ask her to do something. She'll come back with some quick witted response that gets her in trouble. At school she'll be equally bratty.

Earlier this week my Mom and I had the girls at lunch. This very sweet man (with some intellectual disability) who has worked there forever came up to us and started a conversation. We've talked to him a million times so this was nothing unusual. He went into a story of about a member of his family. It was a little long winded but we weren't going anywhere so who could have cared. In the middle of his story Abby looks at him and says "story over, done!". I could have killed her. Luckily I don't think he realized she was talking to him but what a brat.

The issue for me is that she comes off as being naughty or bratty when in actuality this is part of her issue. She lacks the filter than one needs to know what should be said out loud and what should stay in your head. I am not sure how this is going to effect her long term but it sure is going to drive us insane!

Little Big Mouth

2012-01-17T19:20:00.001-08:00

Today I got a note home from school in Abby’s journal. Each day I get a little note about how the day went, if anything happened, etc. Many days I will get a word about Abby falling or bumping her head or something like that. Other, more irritating days, I get the notes that she was naughty or pulled her “I’m tired” scam. :D

Today I got a two page letter giving me info on both girls progress. Academically they are both excelling. They are way beyond where they should be verbally. While Abby struggles to keep up with Grace in terms of fine motor (mostly writing) she is soaring with her verbal usage and comprehension. Anyway, after smiling like mad about my super smart kids I got the other side of the story. The teacher had written the usual about Grace’s inability to sit still and her trouble with transitions. We’re well aware of that.

The part I didn’t see coming was the part about my loud mouth smaller child. I usually get notes that she is fairly quiet at school, unlike at home. She is now talking through circle time, not being quiet when asked and is requiring cues throughout the day to pipe down. After two years of hearing how quiet she is (despite her big mouth at home) they are now seeing the real Abby.

The worst part is that as I read this I laughed… out loud. I probably should have punished her or done something about it. Instead I couldn’t help but laugh. I think this weird, small part of me was elated to get a letter like this. Not about her helmet or her millionth time but instead typical bratty kid stuff. It was oddly refreshing. :D

Impulsivity

2012-01-14T18:44:00.000-08:00

So far Abby has been having an awesome year at school. My biggest complaint would be that she has learned how to "work over" her teachers and she does regularly. She has learned that any time she doesn't want to do a task she can claim to be tired and put her head down... then she is allowed to skip the task. The little bugger is way too clever for her own good. She will come home from school with a page of three scribbles where Grace will have an entire project. We may have her number but school sure doesn't in that respect. :D

One of the lingering issues her physical therapist has been working on is her impulsivity. She has become quite impulsive in the past year or so. We've been working on strategies to work on this with her developmental pediatrician. Where we are seeing the least progress is her motor impulsivity. Things like rushing down the stairs (to the point of falling), jumping off high spots, climbing things she shouldn't, etc. Her PT at school has been noticing a lot of this at school.

The way we have been handling it is by using a lot of reminders and safety warnings. We try to have her count the stairs as she climbs them. This was she is forced to slow down. When she is at the park she might have to look down to be sure she knows where she is. In some respects you have to love the free spirit that sparks her to do these things. She is just so thirsty for life that she can't slow herself down. On the other hand, as her Mom, it scares the hell out of me that one of these days she's going to seriously hurt herself.

Hopefully time and maturation will help her learn to regulate her behavior better. Not sure if that day will ever come but here's hoping! :D

Experts Everywhere?

2012-01-09T15:09:00.000-08:00

Since Abby was born we have done our best to surround ourselves with the best people to treat her. The best doctors, the best therapists, the best teachers, etc. Nothing but the best. In all that time we really never came across an expert in dealing with Rhombencephalosynapsis. The smartest of our "tribe" realized that the closest to an expert on RS was the parent. As a parent of a child with a rare disorder you spend hours and hours and hours (or at least I do... OCD much? ;D) doing research, reading the limited literature and connecting with anyone who knows anything about RS.

One of the things that has driven me the most insane are the people who act as if they are some sort of expert on a rare disorder. As if reading two studies about the diagnosis make on an expert...

We have come across way too many of these supposed "experts". They are usually quick to share their (ill wanted) "advice". They often berate you for decisions you have made. They feel as if there are a number of things you should or should not be doing.

Last week I went for an ultrasound of this baby and I came across a rare mix of the two. A doctor who entered our room telling us that he had "the answer" to what was "wrong with Abby". He announced that she probably has Dandy Walker Syndrome. I smiled, assured him that this diagnosis had been ruled out by her neurogeneticist and tried to move on. I think he felt a little foolish so he began to back track but asserting that the only true expert in the room was me.

Thankfully he was wise enough not to push the issue (like so many have done). It just gets tiring. Until the day comes when someone actually has light to shed on RS I wish people would just leave the parents be the "experts".

Those sad moments

2011-12-12T18:42:00.000-08:00

This past weekend the girls attended their first (non-family) birthday party. It was a karate themed party for a neighborhood friend. We got their and both girls were super excited. They began the party by doing some simple karate moves. Both girls were holding their own and having a ton of fun.

After about 20 minutes Abby started to look a little forlorn. She kept looking over at us and rubbing her eyes and face. Her flapping increased and she started rolling her head. The flapping and rolling quickly turned to tears. She came running over to us hysterical. Her arms had gotten tired and she was so upset and mad and embarrassed that she couldn't keep up with the other kids. She just sat with us and cried and sobbed.

It broke my heart. I wanted to cry along with her. She is older than many of the kids but significantly smaller and obviously with much less stamina. We knew things like this would be hard. These are stark reminders of how "different" she is.

Things didn't get much better when she had to eat the lunch I brought from home instead of pizza and cake. Thankfully we got her organized enough to play the last "game" which was "breaking a board" (with a little help from the sensei. She was VERY proud of herself.

Even though the day ended on a good note it still stood out how much she is going to struggle to keep up with kids her own age. Even worse is the fact that she is getting older and more aware of her limitations. It won't be an easy road but I pray it will make her one tough cookie.

Feeding

2011-11-29T16:40:00.001-08:00

Abby has never been a good eater. From the NG tube in the NICU to the stuffing she adopted as a baby… she may love everything but getting it into her body is a struggle. She was born with very low tone and a poor suck reflex. Because of this I wasn’t able to nurse her and it took trying about 5 or 6 different bottles to find something that worked. As she got old enough to try different foods we learned she had very severe food allergies (milk, egg and blueberry). So we were struck with more limitations.

Once she started to “self-feed” she would stuff everything on her plate into her mouth (at once) and risk her own safety. We worked on that in OT and her therapist explained that it was probably a source of self-stimulation. We moved on to a Z-vibe (vibrating oral toy) before meals and an electric toothbrush at other points throughout the day. It worked but it still took her FOREVER to eat.

Things evened out a little in toddlerhood and she learned to primitively use a fork and spoon. She made a much bigger mess than Grace but her fine motor skills were way behind. We just chocked up her messy eating style to her motor limitations.

Now she is four and a half and things are no better. She stuffs. She forgets to chew. She mooshes and sqooshes her food. She flaps and head rolls and moves when she eats. More food ends up on the floor or her face than in her mouth. It’s a little like those experiences of babies first bowl of spaghetti EVERY SINGLE NIGHT.

I’m okay with the fact that our carpet is ruined. I am even ok with the fact that she doesn’t eat like other kids. There are two things I am not okay with First she risks choking during each meal. At four plus I cannot leave her for one second when she eats. The other thing is how do we send her into a full day kindergarten when she can’t eat properly?

School doesn’t work on feeding because it “isn’t a learning issue”. I contend that a child who can’t self-feed at five could be problematic educationally… just saying.

So we are considering a private OT. We hate to add another therapist into her week but she needs to be able to eat. Not really sure what the right path is but we know we need to get the kid eating.

Some regressions

2011-11-23T07:03:00.000-08:00

As a parent of a child with RS we have always made sure that we keep Abby moving forward. No matter how slow her progress the docs and therapists have always been pleased as long as she is moving forward. For probably the first time in her life she has taken a few steps back. Her fine and gross motor skills seem to have slightly declined. Her self-feeding skills have backslid tremendously. Her social skills (which really were never good) seem to be on the decline and her sensory system is all out of whack.

I have talked to her OT and PT at school and they are seeing it but somewhat at a loss. We are considering finding a private OT to help work on her skills to make sure she doesn't backslide any more. When you make continual progress it's really tough to see any regression.

Hopefully it is temporary. It could be a growth spurt (which always make life a little tough on her). It could be issues with something like inner ear fluid. Who the heck knows. Hopefully we'll figure it out... soon!

Rough Weekend

2011-11-20T19:13:00.000-08:00

When Abby started this weekend she was in good shape. No visual bumps, bruises or scrapes. It's now 10 o'clock on Sunday night and I put her to bed with:

a black eye (fall at the table where she banged her head),
scrapes on both of her hands (tripped over extension cord while we were blowing our leaves),
a cut on her nose (a fall off her bench at the playroom table),
an egg on her head (also the trip over the cord),
breakout under her mouth (from crying and drooling) and
bruises all over her legs (from multiple falls throughout the weekend when we went outside to clean our leaves).

Pity is not something I feel for my daughter very often. I don't think anyone wants to be pitied. But as I put my beaten up little baby to bed I felt just awful. If only I could put her in bubble wrap... :D

Rhombencephalosynapsis and the playground

2011-11-20T01:37:00.000-08:00

Recently I took the girls to the park. I didn't have Abby's helmet and almost took them home. Thankfully she was well rested and having a GREAT motor day. I thought it was interesting, when I looked at the video, to see the differences (in motor skills) between the two girls. Same age, same environment, same everything. Most of the time we don't even notice the disparity in skills but every once in a while I take notice.

I think the part that I love the most is that despite it being ten times harder for her to get around the "balance beam" she keeps at it! :D

My Flappy Girl

2011-11-17T13:36:00.001-08:00

When people hear that Abby "flaps", "head rolls" and "tics" they probably don't have an accurate idea of what that means. It varies throughout the day but I took a minute to take some video of her watching TV before bed. You can see a lot of the spastic movements she has. Oddly enough, she doesn't seem to mind it one bit.

Bring in the perinatologist

2011-11-07T18:42:00.000-08:00

As you know I am pregnant with number three. I had hoped for a "normal" pregnancy but thus far it has been anything but. Because of Abby's diagnosis (along with my obstetrical history) the OB insisted that I see a high risk specialist (perinatologist). I saw one with the girls and that is who helped us begin our journey towards a diagnosis of rhombencephalosynapsis.

I agreed, knowing it was an inevitability. Of course one of the first points of discussion was Abby's RS. Because almost no doctor, let alone a peri, has heard of RS I find myself educating yet another medical practitioner. I give my speech outlining the structure and symptoms of RS. The doctor is amazed and asks ME about the heritability. I outline that no siblings have been identified with RS that this being an inherited trait seems unlikely. She believes me, says in passing that she'll look it up (I nod knowing how little info she'll find) and we move on.

I just found it striking how much of our life involves this bizarre and rare diagnosis. Most of the time the word rhombencephalosynapsis doesn't cross my mind. It isn't something that is a major part of our daily life. At least it doesn't seem that way. But isn't it? The fact that I spend so much of my day making special considerations for Abby. Every time that Grace hops our of the van but Abby has to be helped. Every meal that Grace feeds herself but Abby, even with her weighted vest and utensils, still struggles with. Every doctors appointment that it comes up in and I am forced to give my "RS lecture" yet again.

It is a part of us. It is a part of everything we do. It makes us different but it makes us special. It makes us realize that we can't take one darn thing for granted. It reminds us how lucky we are to have her. It shows us that life can always be worse.

So we pray that our new baby will not have RS. We pray that the docs are right and it is not likely inherited. Who knows that the outcome would be so good next time. But the reality is we also know that if it is in our future we're ready.

MIA again

2011-11-03T18:42:00.000-07:00

Sorry that it has been such a long while in between posts. The pregnancy has been a roller coaster (to say the least). Things seem to be settling down a little. The baby that survived the past few months is fighting like crazy and seems to be stabilizing quite well. Amen! So that means back on track.

I'd like to say the past couple of months have been smooth sailing for Abby but that would be a big fat lie. She's been a bit of a mess. We can't really put our finger on it but she has been an anxiety ridden, flappy, twitchy, twirly MESS. She's perseverating on topics for days on end. At some points in the day she is almost unreachable because she is going into "Abbyland" and we're struggling to get her back.

It could be that she's picking up on the stress of what has been going on with the pregnancy. (If you don't read my other blog you can read about what's been going on HERE.) We haven't told the girls yet but they're smart and perceptive so maybe they're picking up the vibes. Maybe it's that she's not sleeping. Or maybe it's just that her anxiety issues are increasing.

I am struggling with whether to spend the money to go back to the developmental pediatrician (baby head shrinker as we call her). She was great but didn't have a ton to offer us at this point other than meds. We just don't feel like we're to the point (yet) of medicating her.

It's such a huge struggle. When we were dealing solely with motor issues and finding the right walker or helmet or braces we THOUGHT it was awful. Little did we know that we were in the easy part (for us). Those days were a matter of gathering the information and finding the money. Now we are in this gray area of never knowing what is right. No doctor has the answer, no catalog has the cure. It's frustrating and sad and disappointing all at once. SO much of the time when she's in a "loop" I just want to cry. I can't help her. I can't reach her. I feel so helpless.

Hopefully in time it will get easier and the docs will have more answers. I guess we'll see...

No glasses

2011-10-14T13:48:00.000-07:00

For at least ONE MORE YEAR Abby will remain glasses free!!!

Today we saw her eye surgeon for the annual re-check and he was very satisfied with her vision and the straightness of her eyes. Her left eye still turns in a tiny bit but it isn't enough to do anything about. The resident and the surgeon each spent a good 15 minutes (each) evaluating her so I feel confident their findings were accurate.

So for now she remains free of glasses, patches and drops!

On the waiting list

2011-10-13T15:09:00.000-07:00

Today was our family interview with the wonderful place we will be adopting a Home Companion Dog from. It was about a two hour drive and we had to be there at 10 am so it was a very early morning. The girls did surprisingly well though.

The interview lasted about an hour and they asked Abby a lot of questions. It was cute watching her try to answer the more grown up questions. They explained the remainder of the process so we know what to expect. The hardest part is that from here it will take between 6 and 18 months to be matched with a dog. It will most likely be a lab (I wanted a poodle because of the less shedding but I was outvoted). Once we are matched they will call us, we'll set up a meeting where we will meet our dog and have a training session to learn all of the commands.

It is very exciting to be getting a dog that will be well trained, will fit well in our family AND will be an amazing support for Abby. It's so cool.

So now we wait... which we're all very okay with. We're just excited to formally be on the list!

Been a while

2011-10-01T18:23:00.000-07:00

I can't believe it's been over two weeks since I last posted. Over the past month we have found out that we were expecting. We also found out that we were expecting another set of twins. Then we thought we were going to lose both babies. Now it looks like we are only going to lose one of our twins. We went through a similar loss when pregnant with the girls (lost a triplet at 10 weeks) so we are as prepared as you can be for another loss.

Also in the recent past both girls contracted the Coxsackie virus. For Grace it meant sores all over her mouth, throat and tongue. For days we slept in no longer than 45 minutes increments. It was horrible. Thankfully (so far... since she is only on day two) for Abby it has meant a fever and just a few sores. We're praying it doesn't go to more than just that.

Life has felt a little nuts. Between the usual goings on with work and the girls school and the curveballs life likes to throw it seems like we barely have time to breath. For some reason it feels like this time of year just lends itself to a little extra insanity. Hoping things slow down a little before it's time to start revving up for the holidays!

It's a wonder she doesn't have a cast

2011-09-16T08:56:00.000-07:00

I posted this on my other blog (so if you read that one too sorry for the repeat :D).

No More Naps

2011-09-15T05:58:00.000-07:00

One of the biggest changes that came with going back to school was the elimination of the girls nap. Over the past four years we have flirted with stopping naps but it has never officially happened. Because Abby tires midway through the day a nap has always been key in keeping her safe later in the day. If she doesn't nap she falls more.

The girls are picked up at 12:20 and don't get home until 3:45 so fitting a nap in isn't really possible. I had some serious fears about what was going to happen to Abby without the nap. At first she did fall more and get super clumsy after school. What we have started doing is having her (and Grace) do an hour of "quiet time" on the sofa after school. It's helping. It isn't eliminating her tiring out and falling but it's definitely helping.

Now here is the serious up side. In the time since we cut out the nap Abby has slept through the night about 80% of the time... for the first time in FOUR YEARS! Amazing!!!

Back to School

2011-09-13T05:55:00.000-07:00

Thankfully the girls are back to school. The summer was great but it had it's ups and downs. We realized fairly early into the summer that life with no PT or OT was going to be a little rough for Abby (and for us). We were all glad to have a break from therapy but it's not without consequence.

So far things are going really well. The girls are in the same class with the same teacher and the same kids which is great. Continuity is key for kids. They are very happy to be back in the same structured environment they got accustomed to last year.

In our program they don't start therapy for the first two weeks. They let the kids ease back into the classroom schedule before adding therapy to the mix. It seems like in the week since the girls have been back in school, even without therapy, it has been an improvement. Although I miss the slow, unstructured pace of summer Abby definitely benefits from the flow of school.

Looking forward to having her back in therapy.

MIA

2011-09-12T17:55:00.000-07:00

Sorry I've been a little MIA. I found out not too long ago that I am pregnant. It is still early (I am only five and a half weeks) so we're just plugging along and praying that everything continues to go well. So far I feel okay. When I was pregnant with the girls those early weeks were amazing. I had worked so hard to get (and stay) pregnant that when it finally happened I was walking on air for weeks.

Now I am a Mom. Top it off with being a Mom to twins AND a child with special needs and you have a recipe for sheer exhaustion. All of the vices I rely upon are gone. I have a bad day... I have a glass (or two) of wine... GONE. I am tired so I drink plenty of caffeine... GONE. I think this ones going to be a little rougher than I expected.

BUT... we're excited. We're so ready to grow our family. Feels like good things are coming!

Tough cookie

2011-09-03T18:06:00.000-07:00

Tonight we decided to take the girls for ice cream. We had dinner at my parents and none of us had anything to do so we thought why not. We headed to the only place in town that serves "Abby Friendly" (soy) ice cream. She was so excited. While we were waiting to leave she was dancing and singing "I'm gonna have salted caramel" over and over. You see the only flavor they have (for my four year old) isn't chocolate or vanilla or strawberry... it's salted caramel. Thankfully she is a flexible child much of the time so she willfully eats it. (And trust me, as someone who likes soy based foods, it's not that good.)

We got to the counter and started ordering. When we got to Abby the girl working their told us that they had lost their soy ice cream in the hurricane power outages. My heart sank. It was stupid for my heart to sink over something so meaningless but for her having an ice cream cone like every other kid is a HUGE deal. I wanted to cry. Thankfully she didn't. She gave me a disappointed glance when I had to be the bad guy to tell her there was no ice cream for her. No water ice. Nothing. Thankfully they had a table with some miscellaneous things and she chose a ring pop and a bag of pretzels.

In that moment I marveled in her flexibility. I thought about how having such a rare and weird brain disorder has taught her to be patient and flexible and resilient. Her food allergies have taught her that food is not the end all and be all in this world. She never ceases to amaze me.

Unfortunately the story ends with her crying in the car on the way home when her pop and pretzels were eaten and she realized her consolation wasn't as good as it seemed. Thankfully playing with her iPod put her in a better mood. :D

SO many others

2011-09-01T17:25:00.000-07:00

When we first got Abby's diagnosis we were led to believe that there were maybe 9 or 10 other children out there with rhombencephalosynapsis. Over the past year or two we have come to find out the numbers are significantly higher. There are so many elements of this that amazes me. It amazes me that we live in a day and age where we can find people we would have NEVER found before the invent of the internet. It amazes me that doctors can be so wrong about so many things. It amazes me that kids with RS can be so similar but also so different. It's amazing.

It's still a very rare diagnosis. Very little is really known about the prognosis of the disorder. Who knows if we will ever know why or how it happens. At this point I don't really feel like I need to know why. We consider ourselves lucky to have her.

Right now I am thankfully that I have found other RS families and other RS kids. Makes Abby feel like what she deals with others are also dealing with.

When you notice things

2011-08-22T18:59:00.000-07:00

Most of the time the fact that Abby has rhombemcephalosynapsis escapes my mind. When she is sitting on the sofa watching tv or playing dolls with her sister you hardly would know. I also don't tend to think of it in the big moments either. It's not like every time she falls and bangs her head we think "that damn RS again". In those moments we're just concerned whether our kid is okay.

It's the little moments. It's the times when she is playing with friends but has to take a break because her legs are tired. It's the face she makes when I know a round of leg cramps are settling in. It's when she has to go to the millionth doctors appointments. Those are the moments it's quite obvious we are dealing with something bigger than ourselves.

This past weekend Abby and I decided to walk to my Mom's house. It has been raining (NON STOP) in NJ lately and we wanted to take advantage of a break in the heavy rain clouds. It was only sprinkling so we grabbed our umbrellas and started walking. When we went to cross the street I instructed Abby to hold her umbrella with one hand and hold my hand. We got halfway across the street and she lowered her umbrella. I told her to put her umbrella over her head and she started to cry. She told me the umbrella (he toddler Dora umbrella that weighs about a pound) was "way too heavy for one hand". In that moment I wanted to cry.

Yes, she falls a lot. Yes she loses her balance like a baby learning to walk. Yes, she has a rare medical diagnosis. But on top of it her little arms have so little muscle tone she needs two hands to hold up her umbrella. It may not seem like much but to her it's everything.

A little closer to pet ownership

2011-08-11T01:36:00.000-07:00

I spoke a while back about submitting an application for a companion dog for Abby. It took us some time to get our paperwork, letters of reference, etc in order. We finally sent in our completed application about a month ago. I was a little disappointed to have heard nothing for so long so I sent an e-mail yesterday morning. It must have been fate because before the person could have possibly read my e-mail she had left me a message.

Our application has been reviewed and we have been asked to come for an interview as a family. They will meet us, talk to Abby and from there we hope to be put on the list for a dog. It can take as little as 6 months and as long as 18 months to be matched with an appropriate dog. We're really looking forward to it and hoping at our interview we might get to meet some of the dogs.

So it looks like we're a little bit closer!

"Big" appointments

2011-08-09T13:36:00.000-07:00

With a kid like Abby life is full of appointments. Be it doctors or therapy or specialists or social work or whatever. We have a lot of appointments to keep. In my head they range on a scale from 0 (hardly important at all and therefore very low stress) to a 10 (extremely important and therefore usually very high stress). We only have a couple of 10's a year. The neurogeneticist is probably the highest on the list. The second appointment might surprise you. It's not the neuro-ophthalomologist or the neurologist or the endocrine doc or even the pediatrician. It's the allergist!

In terms of what limits Abby the most in life her food allergies rank right under her motor issues. She can't eat eggs, milk or blueberries or have ANY foods that contain those three. Many people hear a milk or egg allergy and assume skin problems or a mild allergy. For Abs that is not the case. She has a severe anaphalactic allergy to these three foods. We carry an epipen, we avoid those foods in our home and we keep her away from them at all costs. You wouldn't believe how tough life can be with NO EGGS, NO MILK and no blueberries (obviously we can live without that one ;D).

Today was her annual check up with the allergist. We go over her asthma, we talk about her eczema, we discuss any flares or issues throughout the year... then we get to food allergies. Most kids will outgrow their food allergies (especially those people with milk and eggs allergies). During the first two years of Abby;'s allergies we banked on that fact. Last year we went to her appointment expecting her numbers to be "trending" towards a milder allergy. That was not the case.

This year we went to her appointment expecting no change but secretly (and naively) hoping we'd be going for a food challenge very soon. I was extremely disappointed when the doc said that because her numbers were so high last year short of a miracle she is not much closer to eating eggs and milk. SO he sent her for the blood test (for which she didn't even flinch... just smiled at the woman poking her with a needle) and in a few weeks we'll see how she's trending.

So for now we'll remain naively optimistic for that miracle but in reality we settle in for at least another year of avoidance.

Dear Rhombencephalosynapsis:

2011-08-03T04:47:00.000-07:00

Dear Rhombencephalosynapsis:

For most of my life I did not know you. I had never heard of you. I can remember the first time I ever heard your name. It was spoken to me with a thick accent from my daughters doctor. For weeks I couldn't even pronounce your name. I did know that anything with a name like that was going to be a force. That is putting it lightly.

I go back and forth between hating you and simply not liking you. I hate that you make my daughters life difficult. I hate that you made her first three years be fill to the brim with doctors, therapists, surgery, tests, OT and PT. I hate that you robbed us of Mommy and Me classes because we were too busy dealing with your impact. I hate that because of you my daughter will never walk like her peers. She will have bald patches in her hair. Her toes and nails and teeth and hair won't form properly. She has a large head and a tiny body. She is going to have to go to high school someday and be made fun of because of YOU. For that I hate you.

The parts that I don't hate, I just dislike, are fewer. I don't like that she can't walk well or run fast but I do love that she is smart as a whip. I don't like that she flaps and twirls and rolls her head but I love that she has a wicked sense of humor. I don't like that simple tasks like feeding herself or pulling up a zipper cause her stress but I love that she is incredibly persistent. But here's the thing. Those things that I love are in spite of you not because of you.

You will NOT have my daughter, I won't let you. I won't let you run off with her and change who she is. I will not let you tear down my family. I will spend every minute of every day making sure that she wins and not YOU. You are insignificant. You are small and worthless. You mean so little to us that we barely speak your name.

If I would wish you away I would... but I can't. So I will agree that I have to live alongside you but know that you need to watch your back because when it comes to you I will never sleep and I will never tire. I will win not YOU.

Disparagingly,

A Mom of a Sweet Girl with Rhombencephalosynapsis

Fear

2011-08-01T06:24:00.000-07:00

I recently "met" parent's (online) who had a baby girl this year and she was born with Rhombencephalosynapsis. Before their daughter was born her parents found my blog. We have been in contact over the past several months and I have been able to answer a few of the probably millions of questions that swim through their heads.

An e-mail from this sweet little girls Dad got me thinking. Thinking about all of the fear and stress and questions when your child receives a rare (or not so rare) diagnosis. The unknown can scare you so bad you want to crawl into a hole. I remember when Abby was tiny and my whole existence for a few months was swirling thoughts of therapists and surgery and doctors and tests and prognosis. It consumed me. I had no idea what my tomorrows were going to hold.

In one minute I felt like we could handle it. We'd get informed and do the research and get her the best treatment available. But the next minute I would be sobbing myself into a puddle on the floor. There was so much fear. So many moments of sheer panic. I can remember holding her in my arms, staring into her sweet face and just wondering if she would have any normalcy at all. It scared the hell out of me. I feel so ill equipped. SO NOT READY. Who the hell was I to try to handle something so huge.

Thankfully the past four years have taught us so much. Time has both matured us and softened us. We know that there is nothing we can't tackle. We know that we can't worry about every little thing. We also know that we can't spend every moment thinking about all the what if's and what will be's. We've better at waiting and seeing. We still have our moments. We still feel scared and shaky and even desperate sometimes. But most of the time we feel blessed.

The little girl who scared us so many times has turned out to be a perfect little girl.

From Mellow to the Moon

2011-07-27T04:50:00.000-07:00

When Abby was born we joked that she wasn't done "baking". She spent the first few months of her life as mellow and calm as a baby could be. She rarely cried, she didn't make much noise or move around much. She was happiest swaddled and laying in her crib next to her sister. (We know now that her rhombencephalosynapsis would hold her development back quite a bit.) As time went on and it became obvious that she had "special needs" she remained one of the most mellow babies I had ever known. She had her moments and rarely slept but she was a very laid back baby. I loved that about her. I loved that in spite of pushing her to her physical limits daily she would smile through the whole thing.

I remember reading the literature on Rhombencephalosynapsis and smiling to myself about how lucky we were that the part of RS that we avoided was the behavioral and anxiety aspects. We were the lucky ones.

I think I smiled too soon. Over the course of six months (from about 3 until 3 and a half) we saw a different child emerge. One who was easily upset and ornery. She counted obsessively. She had tantrums for the FIRST time in her life ALL. THE. TIME. I spent sleepless nights crying at the thought of losing my baby. The sweet laid back smiler was replaced with someone I didn't recognize. She had become a VERY difficult child. I lost a lot of sleep in those six months. I also cried almost as much as I did when we first found out something was "wrong" with her.

Since then we have educated ourselves. We have talked a lot about things like OCD and anxiety and SPD and ADD. We have found the doctors and therapies and tools that we need to deal with her newfound issues.

What makes me have to laugh is the fact that when we were dealing with helmets and walkers and core strengthening we thought we had it bad. We had no idea that dealing with motoric issues would pale in comparison to dealing with "simple" behavioral issues. Who knew... ;D

Current Strategies

2011-07-25T04:49:00.000-07:00

Because we took the summer off from school we took it upon ourselves to work with both of our girls ourselves. I felt strongly that playing in the sand, swimming, uneven surfaces, plenty of social situations (at the pool), etc. would yield better results that spending six weeks in a part day school program. As their "summer teacher/therapist" I took my job very seriously. We have spent as much time as we can working on our bodies and a our brains.

Right now we are spending a lot of time focusing on three areas: Social Interactions, Muscle Strengthening, Balance on uneven surfaces. These are the areas I felt that the therapists overlooked too much this past school year. We are working on the first one for both girls but the last two for just Abs.

Social - Grace is a typical sensory seeker so she can be a huge "space invader" and completely overwhelm her peers. So for her we are working on social interactions where she is a little more type A. This is a lot harder for her than it sounds but she's working on it. Abby likes social interactions but she has two problems. The first is that she prefers the company of either her twin or adults. The second part of the problem is that she has limited social needs. She doesn't need a lot of social "input" to be happy. Many days she'd rather sit in the house playing on her iPod than going out.

Muscle Strengthening - It seems to me that many people take a "she is what she is" approach to Abby. Because she functions so much better than anyone thought she would people hesitate to push her. We take the opposite approach. Her muscle tone will never be good but it can be better. Thankfully we belong to our neighborhood pool and swimming is awesome for muscle tone.

Balance - Abby has made a lot of progress with her balance and ataxia this past year. She falls less and can navigate her surrounding A LOT better than the previous year. The biggest balance struggle for her is uneven surfaces. Walking in the grass or (God forbid) in sand can be dangerous for her. Taking her to the park can mean 6 or 7 falls... easily. So we are taking every opportunity to walk through tall grass, sand, bumpy playgrounds, etc. I wish she was making faster progress but slow and steady wins the race. :D

The Beach

2011-07-23T00:20:00.000-07:00

We just arrived home from a weeks vacation at the beach. Since Abby was little the beach was a little bit of a struggle. For typical kids learning to walk across the sand can be tough. Tack onto that serious motor delays and balance problems and you have disaster. At four she still can't walk across the sand without falling. This is the first year that we have skipped the stroller on the beach and it was tough for all of us.

The second issue is the boardwalk. For those of us with traditional balance... no problem. For a kid with balance problems... again, disaster. Uneven boards. Some boards go vertical while others run horizontal. There are wall to wall people who might bump into her or brush against her. All of these things are enough to cause falls and bumps and bruises.

The third issue is a new place. Abby does very well in places she is familiar with. Her house. School. My parents. Anywhere she goes frequently she creates motor memory for. She knows her way around and can navigate easily. You put her in a new environment and we have many bumps, bruises and falls.

There are several other obstacles we faced but nothing too serious. As she gets older and can do a better job of figuring out her own needs and obstacles we have an easier time.

Luckily we left our vacation with no serious injuries. No stitches or casts or concussions were experienced. So we'll mark this one as a success!

The Sensory Side of Rhombencephalosynapsis

2011-07-18T12:59:00.000-07:00

It took us a while after Abby's diagnosis to realize how many of her needs were sensory. We could minimize the flapping and head rolling by making sure she got plenty of input. Her tantrums were significantly better on days where she spent LOT'S of time outside. Outside time for Abby equals "input". All that "input" really means is information being put into her sensory system... taste, smell, sound, feelings, sights and the less known about sixth sense (not psychic powers but...) which is the proprioceptive sense. Simply put it is monitoring our bodies internal and external structures.

Since beginning a sensory diet for Abby things have improved for her. Her sensory diet includes plenty of heavy work, brushing, joint compressions, squishes and squeezes and rough play. Recently I was talking to a fellow RS Momma, Heidi about her son Ethan. She was explaining how her was having regular tantrums when being cared for by his new caregiver. She also mentioned that on weekends when Ethan is getting more "rough play" his tantrums were less prevalent. I pointed out that perhaps Ethan was more of a "sensory child" than was initially thought.

Here's how I see it. We have this idea that "boys will be boys" and that all boys like to play wild and rough. Here's the problem; because we hold this ideal it's easy to overlook the fact that some of those rough and tumble boys (or girls for that matter) may be more sensory seeking than just playing rough.

Heidi did what we RS parents have to do, she took the less traveled route. Instead of consulting with specialists and doctors she did what was right for her child. She instructed Ethan's caregiver to play rough. (Imagine that moment... Mom tells caregiver to play rougher with her kid. ;D Sometimes being a Mom of a special needs child requires a whole lot of creativity and ingenuity.) In the two weeks since this conversation happened Ethan has had NO tantrums with his caregiver. Incredible! It amazes me that something as simply as wrestling on the floor or climbing on a jungle gym can make such a big difference.

The brain truly is an amazing thing!

The little things

2011-07-11T00:41:00.000-07:00

This week I was e-mailing back and forth with a new friend. Her son Ethan is almost five years old and like Abby he has RS. Along with his RS diagnosis he also has a chiari malformation (for which the poor baby had to have brain surgery) as well as a form of spina bifida. He receives similar services as Abby and has many of the same struggles she does.

Anyway, his Momma, Heidi, was writing to tell me of this moment she experienced during her week. She and Ethan were in the airport and he was playing on one of those fun moving walkways. (Now let me tell you, moving walkways can be the bane of your existence as a parent of an RS child. What kid doesn't want to groove on one of those? Yet a child with cerebellum involvement has balance issues to begin with. Combine poor balance and a floor that moves and you have catastrophe in the making. :D ) She told me how when Ethan reached the end he jumped off AND DIDN'T FALL! Most people wouldn't understand the gravity of this, but I do. That's a great feat for a child with RS.

What this got me to thinking about is how in some ways we are lucky. Most parents will take for granted when their child walks up a flight of stairs unattended. They won't give their son or daughter a high five for making it all the way to the car through a parking lot with bumps and uneven pavement. They won't squeeze their baby as tight as they can because their kid climbed up the ladder of the slide without falling.

I (and parents like me) will NEVER take those moments for granted. Along with the thousands of bumps and bruises and falls along the way we will also experience thousands of little miracles. Reasons to stand up and cheer. Reasons to high five and clap and give hugs and praise. We learn to stop and smell the roses.

What I hope is that this will rub off on our kids. Hopefully instead of becoming hardened by living with more challenges than most people MAYBE our kids will turn into adults who know to appreciate the small successes. They may be better able to praise a colleague or give a compliment. They will be able to stop and smell the roses. At least that is my hope!

Never gonna be her

2011-07-09T11:13:00.000-07:00

This past weekend I was lucky enough to watch my nephew run in a national qualifying meet to go to the junior olympics. He did not qualify this year to go to the olympics but watching these youngsters with so much raw, incredible talent is something worth seeing. So much heart and talent and speed. It is downright amazing.

As we drove home (very tired and quiet since we left at 6 am that morning!) I was thinking. I was running through my head all of the sports that Grace will inevitably want to try. She is extremely athletic, strong and fast and aggressive. I found myself wondering what sport I would some day be watching her excel at.

At the same time it made me sad. We talk about Abby inevitably playing sports or doing dance or gymnastics but in reality it will never be her. She will never get the chance to run a race like that or play in a championship. I HATE placing limitations on her. I HATE to think about what she can't do. We like to focus on what makes her so strong. Her brains. Her sense of humor. Her wit. Her love of music. But sometimes you just have to be realistic. It is not something that will ever be a reality for her.

I know that lots of kids will never be terribly athletic. Not every kid will have that kind of talent. It just makes me a little sad that because of her RS that won't be an option for her.

So while we try different sports for Grace to see what she likes we'll be trying different instruments and dance classes and art lessons for Abby. We'll find her niche just like her sister. Who knows maybe we'll be sitting in Carnegie Hall some day cheering for our daughter. :D

Guest Bloggers?

2011-07-07T01:47:00.000-07:00

I mentioned this a few posts back but I wanted to repost it here. If anyone would like to share a story, introduce their RS child or write a blog post let me know. If you don't love writing I would be happy to help compose the post. It might be helpful for other RS families to read about different kids with RS other than just Abby.

If you want to write or submit something just submit a comment or send me an e-mail!

Cramps... again

2011-07-05T05:02:00.000-07:00

The leg cramps seem to be back in full force. Wake her (and I) up in the middle of the night a few times a week back.

Recently she has had an increase in both rolling her ankles AND in severe leg and foot cramps. Her pediatrician wants to chock it up to growing pains. Her neurogeneticist doesn't want to deal with this piece of her diagnosis. Her OT from school felt like her pronation was still under control. So we're not sure where that leaves us.

Do we seek out yet another specialist? Which kind of specialist would we even start with? Will she be back in the braces? Something else? These are the parts of a rare diagnosis that I hate. I can't simply jump online, do a search, and know exactly what to do and where to go. I have to rely on myself, the vagueness of the internet and gut. It's frustrating.

For now we are keeping her well hydrated and loading her on bananas in hopes that it helps. She goes back to the pediatrician soon so I am hoping he could at least point us in the right direction.

Aches and Pains

2011-07-03T04:54:00.000-07:00

Abby's life is full of aches and pains. Whether it's related to a test or surgery or procedure. Or if it's from her many, many bumps, bruises and falls. When she complains of an ache or a pain we usually give her a very low dose of Tylenol. We do this without too much worry because the kid is so tough that she really only complains when it REALLY hurts. Sometimes that breaks my heart. She can walk around with a huge egg on her forehead and never say a word. So when she does complain we know it's bad.

I am 33 and I am at the beginning of my aches and pains stage of life I wake up in the morning and my back hurts a little. Sometimes my feet ache from wearing not so great shoes. I pull a muscle in my neck sometimes from carrying Abby. It's a part of aging.

What kills me is not know the answer to this question. Will a lifetime of falls and bumps and bruises and issues lead to a life filled with aches and pains? Will they ever go away? Will she ever have a day where she doesn't hurt something or twist something or fall? (I know, more than one question :D)

I don't know. No one really does. I can collect data and look at older kids with RS but the truth is that every child (RS or not) will develop differently. All we can do now is hope for the best.

Blogging

2011-07-01T19:20:00.000-07:00

I began this blog on May 28th of 2009. I started it because I found that I spent so much time talking about Abby's issues on my main blog (Life with Coco and Gigi) that I lost a little focus on all the other things going on in our life. Her diagnosis was very fresh and I had so much to say about it. In the time since I started blogging about her condition I have found more parents of RS kids than I ever imagines. Just this week I met a new friend. Her son has RS. Up until this week she was unaware that any other RS kids were out there to share info with.

This brings me to my point... I am amazed at how much this blog has opened doors for our family. How many other families we have "met" through a simple blog. I had hoped at the beginning that I might be able to share some information and hopefully find other people who are dealing with RS as well.

Now a couple of years later and we are hoping to found some sort of formal group or organization for families living with RS. When Abby first got her diagnosis in 2009 we were led to believe that her diagnosis was extremely rare. While it is rare there are plenty of people living with RS (and by plenty it in a very loose sense) to communicate, share and vent with. These are the moments when I am thankful for the internet and the simple act of blogging.

So for any readers who have not e-mailed yet feel free to do so. Get your story out there. And for any reader who want to share their story feel free to contact me about guest posting.

Summer's Here

2011-06-28T09:31:00.000-07:00

Summer is here and we're flying solo. No therapists. No school. No OT or PT. Some days it is refreshing to be on our own. Other days (the bad days) I regret my decision not to send Abby to the extended year program. On the days where we can get outside we do pretty well. Abby is fairly well behaved. On days when we're stuck inside or at the doctors or something it has felt like torture. The temper is back. The not listening is back. The out and out defiance is back.

We'll be in a store and I will tell her not to touch something. Instead of listening she'll take everything on the shelf and knock it on the floor. I just stand there and want to cry. It's not like she doesn't get disciplined but very little works with her. We are using a "token economy" this summer. They earn chips by behaving and listening. They can turn their "chips" in for time spent alone with Mommy or Daddy. I'd love to say it's working but for Abby she just doesn't care that much. She's perfectly happy to be in the dog house.

Her OCD has been alright. We've become MUCH better at managing her obsessions. The doc gave us much better strategies than what we were using before. That doesn't mean it isn't there but it's a little easier to handle. The worst problem for her right now is the perseverations. She gets "stuck" in a "loop" and she either has to dicsuss the same thing over and over and over or listen to the SAME song over and over and over. It doesn't sound like much but if you try to divert her it's pointless. The developmental pedi explained that this is hard to deal with in childhood. Hopefully it will get easier in time.

For now we're trying to enjoy the "easier" days and survive the tough ones.

February 6, 2007

2011-06-21T00:44:00.000-07:00

On February 6th in 2007 I wrote this:

Well people, once again blogging has turned out to be a wonderful thing. The kind words that some of you wrote have touched me in a way I cannot explain. The past 24 hours were sheer, agonizing torture. I have gone from feeling the lowest a person could feel wishing that God would just take me child and not let her suffer to feeling like she is going to be absolutely perfect no matter what anyone says. It has been a very bumpy ride, but with the support of my amazing husband, my family and all of you we have come so far in a short time.

We met with the OB today, I talked to my sister (who some of you know is an Obstetrical Physicians Assistant) and my Mom has ton a ton of internet research and what we are finding is that the doc we met with yesterday may have been painting us the bleakest picture possible. That perhaps our little girl has a shot at a perfectly normal life with typical development. We are starting to hear stories (even through this blog) of people in the same situation who have normal, healthy babies. We are deciding that we have to rely on faith that our daughter is going to be fine and this is all part of the plan.

Thank you all so much for your prayers, your support and your faith. We need it right now.

Only a day before that I had written this:

We are back from the hospital and things did not go very well today. We got a lot of info, so this will be a quick run-down, I am not feeling all that up to it. It turns out that Baby A has what they believe to be a birth defect. She has dilation between the 3rd and 4th ventricle. That is called Aqueductal Stenosis. She has small cerebellum lobes, which may be either the cause of or the effect of the overall problem. She also Ventriculomegoly, which is dilation of one of the ventricles. It should be less than 10mm and it is about 13mm.

The prognosis is not great, but very cloudy. The peri said it could be anything from developmental delays to more severe cognitive deficits. We got to the OB tomorrow, the peri in 4 weeks for another u/s. After that we will go to Children's Hospital in Philly for an MRI and to eventually meet with the neurologist and a pediatric neurosurgeon.

We are obviously at a complete loss right now. We have so much information, yet so very little. Termination is not an option, so we just have to wait and see how things will progress. I'll probably be absent for a while, but your prayers are very needed right now. I am a little angry at God, so it might help if others pick up some of my slack.

It's just amazing to me how far we have come in just a few years. The unknown was so scary. It shook me right where I stood. I had no idea what was going to happen. Would Abby survive being born? Would she ever walk or talk or do anything normal? How difficult was her life going to be? How was that going to effect Grace? I don't think I slept for months. I had to force myself to eat and do normal things. All I wanted to do was sit on the computer and research.

Happy Birthday

2011-06-20T00:50:00.000-07:00

Today I am the mom of four year olds. Man does time fly!

Then:
Abby

Grace

Now:

Changes

2011-06-17T18:27:00.000-07:00

I was looking through old pictures and I came upon this:

My how things really have changed:

(sorry for my coco and gigi readers. this was too cute not to repeat. :D )

Collecting Data

2011-06-15T12:48:00.000-07:00

Through this blog I have managed to find a lot of people who are living with RS. Either themselves, their child or someone they love. I LOVE the fact that the internet can be such an amazing tool to connect people who would otherwise never find each other. I am hoping in the coming months to form some kind of coalition or foundation for RS. I am doing the research now but it is a lot of work.

The first step of my process is to find potential members. You do not need to have RS to be a member you just need to know someone who does. What I would like to do is create a database of information for this group. What I am hoping is for my readers who are dealing with RS will e-mail me (If you click View Profile under About Me you will be able to access my e-mail). You can leave whatever information you feel comfortable leaving. So far in my database are columns for name, child's name, child's age, e-mail, phone number, where you live (you can be as vague or specific as you feel comfortable with), cognitive, fine motor, gross motor and medical status and any notes you want to share. I vow that the information will never be given away or used for any other purpose than helping us all learn from each other.

Thanks and I will keep you all posted on my progress!

Strabismus

2011-06-13T09:52:00.000-07:00

One of the more common symptoms amongst children with RS is strabismus.

According to the NIH strabismus is:

A disorder in which the two eyes do not line up in the same direction, and therefore do not look at the same object at the same time. The condition is more commonly known as "crossed eyes."

The causes, incidence, and risk factors

Six different muscles surround the eyes and work "as a team" so that both eyes can focus on the same object.

In someone with strabismus, these muscles do not work together. As a result, one eye looks at one object, while the other eye turns in a different direction and is focused on another object.

When this occurs, two different images are sent to the brain -- one from each eye. This confuses the brain, and the brain may learn to ignore the image from the weaker eye.

If the strabismus is not treated, the eye that the brain ignores will never see well. This loss of vision is called amblyopia. Another name for amblyopia is "lazy eye." Sometimes amblyopia is present first, and it causes strabismus.

In most children with strabismus, the cause is unknown. In more than half of these cases, the problem is present at or shortly after birth (congenital strabismus).

Other disorders associated with strabismus include:

- Brain and nerve disorders, such as traumatic brain injury, stroke, cerebral palsy, or Guillain-Barre syndrome
- Diabetes (causes a condition known as acquired paralytic strabismus)
- Damage to the retina in children who are born premature
- Hemangioma near the eye during infancy
- Injuries to the eye
- Tumor in the brain or eye
- Vision loss from any eye disease or injury

~http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001999/

Abby had a more severe case of strabismus. Both of her eye turned completely inward. We sought out the best doctor we could find (at CHOP of course :D) and made an appointment. We had no idea what to expect. Glasses? Surgery? Patching? Drops?

Because of the severity the doctor decided that we would put her in glasses immediately and then they would perform double eye muscle surgery a couple of months later. We didn't love the idea of surgery but the doctor was very sure that patching and drops wouldn't correct the high level or turning.

We got her glasses within a week

Then we scheduled her surgery.

You can see there and in recent pictures how amazing her eyes look. Therapists and doctors still notice that her left eye pulls in but most people would never even know.

Four Years Later

2011-06-10T02:06:00.000-07:00

When I think back to four years ago it is astonishing how far we have come. We were expecting our twins. We had no idea what kind of situation we would be faced with. Would they be healthy? Would they stay in the NICU? Would Abby be okay? Would Grace? How would I do with the C-Section?

At that point we had no idea what the future held. We were boldly optimistic. Shortly after Abby's "diagnosis" in utero we made up our minds that she was going to be fine. We wouldn't have it any other way. While we had no idea what kind of fine we would be we just knew we would be it.

Over the next year we found ourselves faced with hours and hours and hours of doctors visits, tests, surgery and therapies. I spent countless hours fighting with the insurance company because at that point I was not a seasoned pro at weaving through the mountains of medical bills. I went to bed so many nights and had no idea what would be coming our way. It would keep us up at night.

But we figured it out. Every obstacle we figured out how to climb it. Every heartache was met with an accomplishment. Every bad day was minimized by a wonderful one. We learned to love our doctors and therapists and nurses. They were a part of our family. The hospital was an odd place of solace for us. The other parents there never stared at our child or asked stupid questions. They understood.

It is through these experiences that we became us. The US we were destined to be. We're more tired and run down. Our hair is grayer and our waistlines are a little less slim. But we are also more compassionate, more understanding and more aware of how fleeting life is. We don't ever take our children or our family for granted. We know that despite how bad things get they could have always been worse.

We are lucky.

Leg Cramps

2011-06-08T06:17:00.000-07:00

They're back! Abby was having terrible cramps in her feet and legs a few weeks back but luckily they went away before we had to do anything about. I chocked it up to growing pains or something like that but it looks like it may be more. She woke up from nap yesterday with shooting pains in her foot and lower leg. They got a little better but an hour later she was in agonizing pain again. She points to a specific spot and says that is where it hurts but we have no idea if it is bone or muscle or ligaments or what. Honestly I am not even sure where to start in terms of a doctor. I guess I will contact her neurogeneticist in hopes that they can give us some guidance.

One of the fears at this point is that she will need to go back in the braces. I was so hopeful that we were done with them for good. Guess we'll see.

This is just another example of the frustrations of dealing with a rare diagnosis. If she were a typical kid her pediatrician would be able to handle this. Because she has a rare diagnosis none of her doctors want to speculate. They all want to send her to specialist after specialist after specialist because they are afraid to be wrong. In the meantime my three year old is in pain. Such a huge frustration for all of us.

Another baby?

2011-06-06T10:44:00.000-07:00

On my other blog I posted today announcing that we are going to try for a third child later this summer. For those of you who don't know Brian and I need the help of IVF to get pregnant. The girls are IVF babies and we can't conceive on our own. We're very excited about the prospect of another little person in our family. We always had intentions of a big family but infertility and a child with "issues" slowed us down quite a bit.

When we have talked in the past about having more kids one of the things that often comes up (an annoying amount of time ;D) is what about Abby. Sometimes people mean how will we deal with Abby's extra needs while raising another baby. Sometimes they mean what would we do if we had another child with special needs. It is frustrating to have to answer those questions but these are my thoughts.

For the first part, we'll deal like we always deal. Our children (and our family) come first above anything else. They are our top priority so I never worry about not having enough time or energy to devote to giving Abby (or Grace for that matter) what she needs. If we worry about our kids first then it is the other things that will get put on hold (laundry, cleaning, yardwork). Those are the things that can wait.

The second part is as easy for us as the first part. Through our experiences both with infertility (and loss) and with having a special needs child we have learned that God only sends you what you can handle. I remember this moment standing in my Mom's kitchen. It was the day the doctor told us that IF Abby survived being born her outcome would be very poor. I was standing in the kitchen sobbing thinking to myself that I CAN NOT DO THIS. I AM NOT CAPABLE OF THIS. Boy was I wrong. Being a Mom has given me magical powers I never thought I had. The power to go on 3 hours of sleep. The power to move mountains with the insurance company or the hospital or whatever to get Abby the tests, treatments, surgery, etc. that she needed. The power to teach my child how to walk and not in the usual way.

I am not worried about that stuff. I worry, like everyone else, about putting them through college and fighting over the bathroom when they are all teenagers. There is not much I can do about any of it so I am just trying to enjoy the ride.

IEP Meeting

2011-05-31T07:59:00.000-07:00

Today was the girls IEP meeting. I am going to post more of the details on my other blog but the long and the short is that BOTH girls are eligible and BOTH girls are staying in the same class as this year. Grace has been bumped down to only once weekly OT and Speech but Abby will stay with twice weekly OT and PT. The best part is that it was relatively easy. Anyone who has had to sit through these meetings knows that they can be challenging. See every flaw, limitation and problem your child has on paper can be tough to swallow. For the most part they are coming along so well this year that we were flooded with positive. FINALLY a good one. :D

Summer School???

2011-05-28T05:12:00.000-07:00

Yesterday I received a packet in the mail notifying us that Abby has been recommended for the extended year program (summer school). It outlined that any child who is at significant risk for regressing over the summer gets invited to the program. Obviously we have the option to NOT send her. I guess it could seem like an easy choice either way. On one hand if a program this successful is making the recommendation how can we NOT take it. On the other hand isn't sending a four year old to school in the summer a little nuts?

Obviously it isn't so obvious how to decide. Brian and my immediate response was no way. She's only four and the progress she has made this year has been good but we haven't been blown out of the water. There is also the matter of her being a twin. Grace isn't eligible and how crappy would it be for her to have to get on a bus and get shipped across town every day at 8 o 'clock while Grace stays home alone with me?

But what if we DON'T send her and she does regress? It's very possible.

As of right now it feels like that is a risk we're willing to take. I think a kid needs a summer (in fact I think ever grown ups could use summers off :D). Isn't swimming and playing and running good PT? Isn't meeting kids at the pool good social stimulation? We're going to talk about it at IEP's this week with our case manager (she's terrific) and see if we're in agreement. Decisions, decisions!

Changes

2011-05-23T11:20:00.000-07:00

Over the weekend Brian and I took the girls down the shore for the evening. We live under an hour away from the beach so jetting down to the beach for the night is something we do a lot. Before the girls were born our tradition was drive down with the windows down and the music blasting, get there are go get Mack and Manco's pizza (a local fave), go on some rides then finish off the night with Kohr Brothers ice cream. Now that we have the girls our music is a little softer and our windows are a little higher. I can live with that.

The part that really sucks is the other parts. Because of Abby's food allergies paired with her anxiety over food getting pizza and ice cream is a thing of the past. This weekend as we sat in McDonald's (because even a food allergic kid deserves a treat) I thought about all of the changes that these kids have brought to my life. Not just the ones I expected but also the ones you never saw coming. I figured I would be like every other Mom buying their kid an ice cream cone. I thought pizza would remain a staple in our diet. I thought wrong.

Then we hit the boardwalk and we have to talk the whole way through it because Abby has trouble with the loud noises. She also has trouble with some of the flashing lights and the smells. She definitely loves the boardwalk but she can't enjoy it the way most of us can. It's hard for her to stroll and enjoy it all. Instead she rides in her stroller so she can cover her ears when she gets stressed.

Life with children is definitely a change. Life with a special needs child is even more wrought with change. I guess it is our job to do our best to keep up with her and try to make her experience as "typical" as we can.

Little Gains

2011-05-11T17:02:00.000-07:00

While Abby no longer has the label Failure to Thrive we still struggle with keeping weight on her. We refuse to follow the advice of giving her fatty foods and excessive calories. Instead we try to carefully balance he intake of proteins and carbs and calories in efforts to give her body the nourishment it needs. Even with that she often doesn't gain weight for months and months and months. Her most recent stint was 6 months without gaining a single ounce. At her most recent weigh in she has finally gained about 5 ounces! It's not much but at almost four she is closing in on 29 pounds. I always wondered if she'd hit 30 pounds by four. :D

I was in the girls classroom last week for the mothers day tea and one of the other Moms was talking about how her son is so small that he is almost 4 and only wearing 3T. I smiled to myself because the capri pants Abby had on were a size 6-12 months (from Old Navy) :D. She's my little peanut!

Impulsivity

2011-05-09T06:04:00.000-07:00

One of the "psychologically based" elements that can come along with RS is hyperactivity and impulsivity. Up until Abby was about three and a half we saw no signs of this. Obviously this has changed. She is now quite hyperactive and has a great deal of significant impulsivity.

When people hear you talk about your child being impulsive they almost always chime in with "so it my son/daughter". I would say that at least 75% of the time this is the response. I have taken to smiling and nodding instead of correcting because it keeps my blood pressure down. People truly do not understand what true clinical impulsivity looks like.

Here is what impulsivity is NOT: Running with a stick in your hand, jumping on the bed, running away from your mother/father in the store or being generally wild.

What impulsivity DOES look like it more like this: Jumping from the top of the slide ladder and crying because you didn't mean to do it (ie: didn't think about the consequences). touching the hot stove YOU KNOW IS HOT because you couldn't control yourself. Smacking someone behind you in line at the store and then feeling mortified that you did. Washing your hands (because you have an obsession with washing your hands) and once you're all done touching the bottom of the sink and starting over (did this several times this week ;D). And on and on and on.

It such a source of frustration for parents of kids with ADHD, ADD, Asberger's, Autism, SPD and so many other disorders that come part and parcel with impulsivity and hyperactivity when every mother and father makes a point of stating that their (very obviously typical) kid has the same issues. I guess if we could just walk a mile in someone else's shoes...

Life with obsessions

2011-05-05T05:50:00.000-07:00

Living with a child with obsessions can be challenging on a moment by moment basis. Many of our daily activities become interrupted by her obsessions. While we don't allow her to perseverate on them (when possible) it doesn't mean we don't have to deal with them on a moment by moment basis. Before they began I probably would have waved off the idea that an obsessive child could be so impacting to a family. All kids have obsessions, right? Every child has a favorite game or song or toy or food that they want to eat, play with, listen to, etc, over and over and over.

Wrong. All kids have preferences and favorites but "normal" children do not have full blown obsessions and anxiety.

Last week Brian went away on a fishing trip. While he was gone Abby fixated on our fish Hamster and the idea that Brian would bring back a friend for Hamster. We spoke every hour (at least) about how beta fish cannot have friends in their cage because they fight. Obsessions #1. We moved on to two days of obsessing over being Annie (from the movie) and fighting over being addressed as Annie and not Abby. She color (red) and number obsessed (Annie is 10 so she did a lot of counting to 10) all weekend. Also over the course of the weekend she remembered a scene (where Santa eats the gingerbread cookie) in the Shrek the Halls Christmas special that caused an almost full blown panic attack. We only were able to move past that once I promised that we would not Tivo the special this year. (I have a feeling Christmas could be interesting this year...)

So on Sunday when Brian came home instead of talking about how his trip was or how the girls were he had to be brought up to speed on what "loops" we were caught in of late. Sure enough the second she woke up from her nap (after not seeing her father for four days) she told him about the Shrek issue.

It's hard to watch. It's hard to not be able to explain away the things that cause her stress and panic. It pains me to watch it as a parent. I know in time that therapies and medications will help but for now we have to sit back and watch her deal with all of these issues and so little we can do about it.

Bubble wrap

2011-05-03T05:47:00.000-07:00

Would it be wrong to wrap your child in bubble wrap before sending her out to play? Would elbow and knee pads be appropriate when playing on the playground?

Having a child with a developmental disorder that is largely motor based means dealing with a lot of falls. Top that off with her overall balance problems (stem from cerebellum), difficulties in using the two sides of her body together (from partial agenesis of the corpus callosum) and trouble gauging how far to step or reach (dysmetria)... and you have a child who falls all the time.

Despite all of her falls she isn't afraid. This is because she is a very tough cookie and she is very persistent. I love that about her but as her mother I wish she had a *little* bit of fear... just enough to protect her. Every time she runs I cringe. Every time she plays on the playground I want to hover behind her and help her on every piece of equipment. When she rides her bike I want to scream SLOW DOWN. But I can't. I can't be the person or thing that holds her back. I can't let my fears of the inevitable fall where something breaks turn her into a fearful kid. I can't. My job is to keep that fire burning in her. But it isn't easy.

Sometimes when I watch her running and trying to keep up with other kids I want to cry. She is slower. She is clumsier. She falls ALL. THE. TIME. She is often covered in bumps and bruises. Her ankles roll over if she runs too fast. It's hard to watch. A big part of me wants to keep her inside where she's safe from herself and safe from other kids.

I also know that hurtful words will inevitably be in her future. I listen to the neighborhood kids taunting each other when someone is slower or less talented. No one wants to be the kid who can't shoot a basket or kick a soccer ball. I guess that is another issue for another day.

For now I will continue to resist the urge to bubble wrap my baby before sending her out to play. I will limit her helmet usage to her bike or the playground at school (she has to wear it there). I will NOT buy her another helmet for at home even though I desperately want to. I will keep on cringing.

We're all clear for next year

2011-04-28T04:27:00.000-07:00

We got a notice home from school yesterday notifying us that Abby (and Grace) is eligible for the same school program next year! She will stay in the preschool disabled program and next year the girls will be in the afternoon class. It is such a relief to know that she will be getting the same great level of therapy and support at school as she gets this year. We are hoping to be able to request the same teacher since she already knows the girls needs so well.

Such a relief not having to go into the IEP meetings prepared for battle.

The things that are still a little up in the air are:

1. Keeping the girls together

2. Keeping a 1-on-1 aide for Abby

3.Keeping Abby at 2x a week OT and PT (and not having her therapy cut due to numbers)

Marriage and the "special child"

2011-04-26T07:34:00.000-07:00

Marriage in this day and age is hard. Money is always tight. Life is stressful and chaotic. Finding time to be a couple can be nearly impossible. You add to that having a child with special needs (who generally can't be left with just any babysitter) and you make for some tricky times. We are lucky that we manage to navigate the trickiness fairly successfully. But we have our moments.

Being a married couple with a special needs child can be incredibly difficult. Not just the typical stuff but also all of the extras. What therapies do we agree are necessary? What equipment do we need to invest in and what can wait? Is this specialist really necessary? When she can't tolerate a noise or a smell or a situation do we leave or push through it? To both parties in the marriage the answer is usually easy but when both sides disagree it gets muddled.

We are different people with different opinions. The majority of the time we agree on how to proceed (eventually) but there are those times when we are on opposite sides of the world. It's hard to find the middle ground. No book or traditional marriage ideology covers these issues. There are no right and wrong answers. Am I right since I spend the bulk of the time with the girls? Is he right because he has a fresh set of eyes? Are we both wrong because it's too close to home? Figuring it out can be tricky.

I guess the point is that for those parents who are dealing with special circumstances with their child the important thing is to spend time on yourselves. Both as a couple and as individuals. It isn't easy but it's necessary.

Before

2011-04-21T12:20:00.000-07:00

I remember before the girls were born having these fleeting thoughts about what was going to happen if I "pushed the issue" of my infertility. Was infertility God's way of telling us that we were not destined to have children? Were we meant to be childless? Would pushing forward with fertility treatments cause us to be "punished" later on? I always knew it wasn't rational thinking but you have a lot of time to think while sitting in specialists offices for hours on end.

Now I am the mother of a child with special needs (technically two). Every once in a while I find my brain flashing the question 'did I cause this'? Again, flawed logic... I know. Sometimes we have those days. She has a big fall. She spend the morning flapping and spinning. She gets caught "in a loop" and can't move from a topic. She parrots my own speech back to me instead of having a conversation. A BAD DAY. Those are the days when I have the moments of doubt. Did I do this to myself and her? Is this some form of punishment?

I know the answer. I know I was destined to be her Mom. I know that the lessons I will learn from her will far outweigh the bad days. I know that. In the meantime, in the middle of a day from hell, it's hard not to ask.

What will your future hold

2011-04-13T06:08:00.000-07:00

I know that a few of my readers are people either expecting a baby with RS (or similar structural abnormalities) or have an infant with RS. I have loved hearing from you how our experiences have helped, in some small way, with your own experiences. I have been thinking lately about all of the moments we received potentially bad news and how little information we had. I searched and searched and found so little more than four years ago.

I thought I might share some of the things we were told about what Abby's life would be like. I will also say a couple of words about how starkly different many of these things are compared with our reality.

*She might not make it through a delivery - Obviously not the case.

*If she lived she might spend a long period of time in the NICU - Only 13 days!

*She might need a feeding tube - She only required an NG tube for about 7 days until she coordinated her suck, swallow, breath reflex.

*She would never be able to walk - HA! I can top that... the kid runs, skips, jumps, climbs, rides a bike and dances like a wild woman. It might look a little mechanical and she may fall a lot but the girls CAN WALK.

*She would never be able to talk - Double HA! The kids has NEVER met a thought she didn't share. She talked early and has never stopped.

*She would likely have mental retardation - At three years and nine months she is beginning to read, spells her name (as well as mine, Grace's, Brian's and her grandparents), counts to thirty, does basic addition and subtraction and tests off the charts for vocabulary. SHe is being tested next year to see just how high her IQ is. They are predicting she is well in the superior range.

*She would not be able to coordinate the two sides of her body - Because of her corpus callosum involvement she is actually able to use the two sides of her body independently AT THE SAME TIME. It is amazing to watch her do something with one side of her body and something else with the other. SO COOL!

*She would be unusually small - She is very tiny for her age. At almost four she is still only around 28 pounds. That being said she doesn't not look unusually small... just petite.

*She will have unusual facial features - Look at the picture of her at the top of the page and you tell me she looks "unusual". She may have a few of the features (like the sharp teeth, some bald patches, broad forehead, weird shaped toes and a large rib cage) but she looks normal.

*She will have unusual behaviors - She does flap and head roll. She also spins when she gets stressed, tired or excited. BUT... it isn't a big deal. If someone told me that my child would flap their arms it would have upset me terribly when I was pregnant. Now is it such a lot of nothing. I don't even notice it.

*She will be hyperactive - She is but so many kids are in modern day. There is so much you can control with diet and medication. This is a road we have only just started down but I know it is something we can handle.

*She might have psychological issues - We are now dealing with her obsessions, anxiety and panic attacks. In time it will likely require medication but medicine can do so much to help with these issues.

So hopefully you see how wrong they can be. So much of what the doctors think they know is either completely wrong or just a worst case scenario. It must all be taken with a grain of salt. Each child is so different and the brain is so plastic. The sky is truly the limit... it is just your job as a parent to push them as high as you can.

Different

2011-04-11T05:36:00.000-07:00

Abby is different from "normal" kids. She doesn't walk like other kids her age. She can't keep up with kids her age. She can't eat normal foods of kids her age. She has therapy at school instead of play time. She's different.

Up until recently being different was normal for her. She had no idea that she was slower and clumsier and smaller. She was different in all those ways from Grace but it never really dawned on her.

Now she is closing in on four and she is becoming starkly aware. She has anxiety about the fact that she is smaller than other children. She has near panic attacks when she has a close call with something she can't eat. She perseverates about anything that makes her feel even the slightest bit different. The child is too smart for her own good. If she was a less observant child I think much of it would go over her head. Instead she has the most perceptive ears and the keenest awareness of her environment.

SO how do you handle this? She is too smart to simply explain it away. I will not lie and tell her she is wrong. Even trying to explain to her that there really is no such thing as normal just irritates her.

It is my job to make her proud of who she is and what makes her so incredible special. That being said no kid wants to be "special". Kids want to be like every other kid. So it makes my job harder. I am very aware that this is just a taste of what is to come for us. It is hard to imagine her when she is thirteen. Suddenly her bald patches and protruding rib cage and oddly sharped toes and sharp teeth will be more than cute "Abbyness". She will hate those things that make her her. It makes me sad thinking about how much her disorder will effect her.

On the other side of the coin I can't help but smile about the fact that while she is worrying about her hair or her teeth or her figure she is NOT worrying about the way she walks or that she is small or that she can't run as fast. (I know, I might be wrong here but who the heck knows???) She WILL walk. She WILL be as smart if not smarter than her peers. She WILL laugh and joke and hang out with friends. Those are all blessings.

Panic Attacks?

2011-04-07T07:01:00.000-07:00

Over the weekend we got invited to our next door neighbors house for a campfire. We have been invited to their house before and our kids get along great. They are aware of Abby's allergies so they do their best to make sure to have Abby-friendly snacks (even when we bring our own... so nice of them!). I was outside hanging out and Abby followed our neighbor into the house along with her kids for a snack. Abby grabbed a Nilla Wafer and stuffed it in her mouth without thinking. When Grace told her that it wasn't vegan Abby went into panic mode. She spit it out, came running out to me and just about lost her little mind.

She began crying and gagging and choking for air. It looked like she was having a full fledged panic attack. We got her past the pure panic but still had to take her home she was so upset. She went to bed still crying. I figured the combination of being tired and having a food "accident" just triggered an extreme response.

But then this week she had another similar incident. She was over tired and we were in a restaurant. Out of nowhere she looks at me with a look of sheer panic and says "I need to go home". Thankfully she got calmed down quick enough to avoid the peak of the attack but it was still scary for her (and for me).

Being that we were just at the developmental pedi last week I am not quite sure what to do. I don't want to do meds yet. No amount of deep breathing helps when you get a three year old into a panic attack. I am (naively) hoping it doesn't happen again. (Please don't let it happen again...)

Report Cards

2011-04-06T07:15:00.000-07:00

The girls got their "report cards" from school last week. In preschool the report card is more of a progress report. The cool thing is that you can sit and compare where they are now and where they are when they started school in September. The progress is amazing! Abby still has a few 6's (which are skills she should have at her age but are not yet emerging) but by and large she is making so much progress. So many of her 6's have turned into 3's and even 2's (obviously lower numbers equal better mastery of a skill).

Sometimes I look back at the period in time when she couldn't roll over and she was months and months past the typical time period for it. I remember thinking "will she ever walk", "will she ever be able to do normal things", "will people look at her because the way she moves is so unusual". Then she rolled over. Then she crawled. Then she walked with the walker. Then SHE WALKED! Now she runs and jumps and skips and rides a bike and a scooter. It is incredible. We sure have come a long way!

Appointment

2011-04-02T01:31:00.000-07:00

We went on Friday for our meeting with the developmental pediatrician. By the time I got to the office my nerves were shot. Rain. Crowded city. Hospital location that I HATE (horribly located in the most crowded part of the city). Drove around and around to find the parking for handicapped only to never find it, give up and park in the lot where I scraped the crap out of my car last year.

Thankfully our wait was brief and the doctor was wonderful. She was a teeny, tiny soft spoken asian woman with a very gentle way about her. Abby was immediately at ease. I hadn't brought much since I thought it was to be an hour long appointment. It turned out to be a three hour long assessment so I was vastly unprepared. Abby's behavior was AWFUL but since we were there for her behavior it was okay.

The doctor didn't want to formalize an official diagnosis (a little frustrating) because she was remiss to attribute her behavior, obsessions, hyperactivity and anxiety to something other than RS... at least for now. She said that in the coming years we will probably have to add a behavioral diagnosis.

The obsessions

Abby obsesses over certain objects. She can't function unless certain things are a certain way. She has only had a handful of them in her lifetime but they are severe and persistent. We don't know whether this is a function of family history, the RS or just her personality. The doctor gave us some strategies to work on her obsessions but she confirmed what I knew; obsessions are obsessions and while you can help minimize them you can't eliminate them. It is something we will be battling over time.

The anxiety

Another symptom she exhibits is high levels of anxiety in certain situations. We try to control the anxiety by using Social Stories and giving her a ton of information about her environment. It works some of the time. The doctor felt that, like the obsessions, this is something we can work to minimize but not eliminate.

The hyperactivity and impulsivity

This was of great concern for the doctor. It has begun impeding her learning and will likely get worse. She said that she is displaying early signs of ADHD. She spoke briefly about the future and she felt that medication might be a likelihood in the future. I think she threw it out there to let us start getting our minds around it. In our case we already knew it might be coming. Her behavior gets more and more impulsive and erratic the older she gets.

All of this being said the doctor felt that it was all minor to moderate. She felt that with the strategies in place and perhaps some mild medications in the future it is not going to impede her ability to learn and function academically. It will make things a little harder for her but she's used to overcoming adversity.

For now we are employing the new strategies and going back when we feel it is time to change the plan. I like that the doc was comfortable letting us navigate that part on our own. So, again, we find ourselves in the "wait and see" game. Luckily we've gotten fairly good at that game. :D

Pulmonologist

2011-03-31T05:39:00.000-07:00

I heard back from the neurogenetecist about the concerns with Abby's breathing and heart. While they assured me that no heart defects are associated with RS (which I knew) it might be time to get a pulmonology workup. They would be able to assess her breathing issues and decide what route we should take in terms of checking her heart.

So on to yet another specialist. There isn't a huge hurry since the concerns are not terribly serious. So on we go.

Nerves

2011-03-29T11:51:00.001-07:00

Over the past four years we have had many first visits with new doctors. Every single time we have a first visit it takes my blood pressure up a notch. Part of it is that we are going for SOMETHING. And each "something" could be a big something or a little something. The anticipation of it being bad always scares me. The other part is that every time we meet with a new doctor it means going over the past 4 and a half years in detail. All the ups and downs. All the tough stuff. All the tests and doctors and surgeries and procedures. I hate reliving all of that. I like to leave it in the past where it belongs.

Thursday is our meeting with the developmental pediatrician. We are going to discuss the abnormal behaviors, anxiety and obsessions Abby has developed. I have no idea whether this will be a check in every six months kind of appointment or a go in every other week for therapy kind of appointment. Only time will tell with that part.

What is stressing me about this appointment is that this is the most abstract kind of appointment we have had. It's easy to talk about her milestones and the quality of her motor coordination. Going over previous tests and appointments are just matters of fact. This is much different. Now we are talking about behaviors and parenting and underlying psychological issues. This (to me) is where it really gets complicated.

We don't know what the future brings for Abby. She may end up have OCD tendencies like many people with RS. She may not. We may be able to control the symptoms behaviorally and we might need medication. We just don't know. I hate the unknown. You would think the past four years would have taught me to let it go but it's hard. I am better with the whole "wait and see" philosophy than I used to be. I am surely not perfect.

I just hope that we love our new doctor and it is easy to work with her.

Looking back

2011-03-28T06:03:00.000-07:00

Recently I was going through some old bookmarks in my computer. I stumbled across and old board that I used to frequent for women pregnant with babies who have ventriculomegalies. It got me to thinking about those early days. The days right after we found out there was "something wrong" with Abby. It was so scary and so painful and SO stressful. I barely slept in those first couple of weeks. I opted instead to spend hours and hours researching possible causes, treatments, prognosis and outcome. I e-mailed anyone I could think to ask questions. I blogged. It was a dark time in our life.

Now I sit here the mother of two precocious four year olds and most of the time we are like any other family with typical kids. It is almost hard to remember life in those days with all of the unknown. I don't think I could have or would have predicted that life would turn out this way. That we would spend hours and hours and hours in therapy but that Abby would turn out so perfectly.

It makes me wish there was more I could do to tell our story. To show that even in those darkest hours there is hope. There is always potential. That the information the doctor presents is usually the worst case scenario NOT the likely outcome. It's why I blog and write and share whenever I can. I just wish there was more we could do to help those who are going through what we once were.

Two "new" issues

2011-03-25T05:46:00.000-07:00

Over the course of the past couple of months we have noticed a few changes in Abby that require further investigation. We weren't hasty in rushing her to a doctor since she has changes all the time that generally remit within time (like the ankle rolling). We usually wait out anything new (that isn't serious) and if it doesn't remit within a couple of months we follow up with one of her doctors.

The symptoms we are watching right now are:

1. Ankle and wrist tingling and pain. We have some suspicions about growing pains but it seems weird that she would have them in the wrists and ankles at the same exact time. If it keeps up we're going to start with an orthopedist and see what they think.

2. Her heart. We don't have anything medical to base it on at this point but in all of her appointments and specialists and tests she has never had a heart workup. She has developed a small (non-asthma) cough which was the first sign. You couple that with her being tired all the time and you have enough to warrant some investigation. Because of her RS things like not keeping up with other kids, tiring fast, sleeping more than usual, etc. can get pushed under the rug bc of the condition. It's why as a parent you have to be a detective all the time and make sure nothing slips by. It is very likely nothing but certainly something you don't want to miss.

I'll post as we know more.

No pronation

2011-03-16T17:46:00.000-07:00

Abby's PT at school took a good look at her gait with no shoes on and determined that she is not pronating. This is wonderful news because it means no expensive, annoying braces this year. The bad news is that she did see more instability without her shoes for unknown causes. She is going to do a few more sessions without her shoes on and see what she can uncover.

It is such a pain because we can't force her to wear her shoes all the time but I hate for her to fall even more than she already does. We're just going to keep an eye on her for a while and see what happens before we start pursuing it further.

Developmental Pediatrics

2011-03-10T12:59:00.000-08:00

We have finally secured an appointment with a developmental pediatrician at the end of March. I am so thankful for our wonderful genetic counselor who cut the wait down from about 9 months to only two! It's nice to have friends in high places. ;D

For the past couple of years I have thought Abby would benefit from a developmental pediatrician. I was assured by therapists, doctors, etc. that it was not necessary. My gut told me to move on but with so many people saying no I thought maybe it was just my need to do ANYTHING possible to help Abby. I guess I should have followed my gut.

Here we are years later and instead of being on top of it we are back tracking. It's not the end of the world but I just wish I went with my instinct to begin with.

Here is some information on what a developmental pediatrician is and what they treat:

What is a Developmental-Behavioral Pediatrician?

If your child has a developmental, learning, or behavioral problem, a developmental-behavioral pediatrician has the training and expertise to evaluate and care for your child. Developmental-behavioral pediatricians possess training and experience to consider, in their assessments and treatments, the medical and psychosocial aspects of children’s and adolescents’ developmental and behavioral problems.

Developmental-behavioral pediatricians evaluate, counsel, and provide treatment for children, adolescents, and their families with a wide range of developmental and behavioral difficulties, including:

-Learning disorders including dyslexia, writing diffi culties, math disorders, and other school-related learning problems
-Attention and behavioral disorders including attention-deficit/hyperactivity disorder and associated conditions including oppositional-defiant behavior, conduct problems, depression, and anxiety disorders
-Tics, Tourette syndrome, and other habit disorders
-Regulatory disorders including sleep disorders, feeding problems, discipline difficulties, complicated toilet-training issues, enuresis (bedwetting), and encopresis (soiling)
-Developmental disabilities including cerebral palsy, spina bifi da, mental retardation, autism spectrum disorders, and visual and hearing impairments
-Delayed development in speech, language, motor skills, and thinking ability
-Behavioral and developmental problems complicating the full range of pediatric chronic illnesses and disabling conditions (for example, genetic disorders, epilepsy, prematurity, diabetes, asthma, cancer)

Click here for direct link to above information

We are hoping that this doctor will be someone who can not only keep an eye on the "bigger picture" but also help us deal with the tantrums, anxiety and OCD behavior.

Pronating again?

2011-03-08T13:21:00.000-08:00

Over the past few days Abby has been complaining that her ankles are "acting funny". Then we noticed that she is back to "rolling her ankles". It is like when you or I are walking and your ankle just sort of stops working for a second. In her case the muscles that keep her leg straight have always been weak. The braces helped last year but it seemed like the need for them had minimized.

Well... we find ourselves back where we started. The PT at school is going to take a look at her without her shoes next week and we will talk about the next step. I am SO hoping braces are not in the future. Although they work and she didn't complain about them too much they are still a pain. They cost a fortune, they are one more thing to put on and off and when you pay $700 for two pieces of plastic you feel like you have to guard them with your life. :D

Melatonin... the wonder drug

2011-03-04T06:53:00.000-08:00

I am in awe. I am dumbfounded. When the neurogeneticist mentioned Melatonin for Abby's sleep issues I figured we would try it for a couple of months, check it off the list and then continue down our path towards a sleep study. I ordered her dosage online in no hurry at all and gave it to her the day we got it.

It was a Friday. It happened to be a rare almost-seventy-degree-day so when she fell right to sleep I chocked it up to the massive amount of exercise more than the drug. Then came Saturday. A less beautiful day but we did spend much of our time outside. Again, she slept.

I am elated to announce that she has slept EVERY SINGLE NIGHT SINCE! I cannot even believe it as I write it. I am still waiting for the other shoe to drop. I am waiting for the effects to "wear off" or "stop working". But they haven't. She is sleeping. Not only is she going to sleep with TEN minutes of going to bed but she is asking to be put to bed and staying asleep ALL NIGHT!

So it took almost four years and a mind boggling, hair pulling, eye crossing, roller coaster ride but we're there. We are getting some sleep. We are having some peace at night.

It is heaven! I am a believer.

Why do I ride in a stroller?

2011-03-02T02:40:00.000-08:00

The other day the girls and I were walking home from my Mom's house. Abby came off the bus exhausted and asked to ride in her stroller. She hopped in and we headed out. When we walked home Grace asked if she could ride in the stroller. I told her only if Abby didn't need it. She looked at me and asked "why is that Abby's stroller?" Then they both looked at me with saucer eyes waiting for my answer.

In that moment a flood of answers came into my head. Because Abby has RS? Because Abby has weak leg muscles? Because Abby's condition limits her stamina?

What I said was "because Abs gets tired fast when we walk". Thankfully they both accepted that answer and went about their business.

What it conjured up for me is the explanation... the inevitable discussion about why and how she is "different". At three she has little consciousness that she is atypical. She is too little to know what she is "supposed" to do. The older she gets the more she asks questions about why she can't manage to do certain things that Grace can do. 99% of the time we just tell her that her body isn't ready but it will be. We don't want her listing her "can'ts".

But... I see the writing on the wall. Many discussions are in our future regarding this subject. Many tears will be shed about what she can't do. I pray that we have managed to raise a child with enough self-confidence to say "screw what I can't do". I hope.

Marriage and the special needs child

2011-02-28T06:23:00.000-08:00

Do you know that some studies have found that divorce rates amongst parents of children with special needs can be as high as 80%? EIGHTY PERCENT???

I thank God every day that instead of battling each other, (most days) Brian and I have found a way to depend on each other. We have managed to make the most of our circumstances and deal with the extra pressure of raising our girls.

It just astonishes me how MUCH PRESSURE it puts. Every couple (especially those with kids) has a lot battling against them in this world. We are bombarded with images of divorce and cheating and other things to break up a marriage. Add the stress of money and a house and kids and schedules and you are LUCKY if you make it through.

If you throw on top of that specialists and surgery and equipment and insurance companies and never finding a free minutes to yourselves. You can't leave you kids with just anyone because they have needs above the "norm". You can't take a vacation because it is too much of a pain to plan something like that.

I can see how easily a marriage can start to unwind. I think I needed to post this to remind myself how darn lucky I am. We fight, like everyone else in the world but we fight fair. We have a huge amount of stress but we manage it (most days). We disagree on treatments and doctors and therapies but we negotiate. We give and we take.

I am lucky.

Who this has made me

2011-02-24T06:18:00.000-08:00

It amazes me how much mothering a child with special needs changes a person. How much you can grow and change and adapt out of sheer will and necessity. Some days I feel like a mighty giant... battling what needs to be battling... fighting the good fight. Some days I feel like I am a piece of used chewing gum. But no matter what kind of day it is I am still a Mom fighting like hell to give my kids every thing this world has to offer.

I was driving home from Abby's appointment the other day and I found myself deep in thought. I was thinking about how much my life has become their life. How I have become them. I am no longer Kristen (most of the time) I am Abby and Grace's Mom or Mrs. F..... (to the insurance company or a doctors office or school or whatever). I have changed.

I know I would have changed if I had "typical" kids but there is something unique about being the Mom of a special needs child. It does something to your core. It changes the way you see yourself, your children, the people around you. It shows you who your true friends and allies are. It shows you who will support you no matter what. It takes the focus off of ME and puts it on THEM.

It is a good and a bad thing. The fact that you have to let go of some of yourself... probably not the best part of it. But being able to provide for them things that no one else could... that part makes up for it.

Melatonin

2011-02-20T18:45:00.000-08:00

When we talked to the doctor about Abby's sleep issues he immediately Melatonin as the first step. I was eager to start the treatment but had my doubts about whether it would work. He cautioned us that it may take a month to take effect and that it was really a 50/50 chance of working.

We gave her her first pill on Friday night. We decided that since she was present when the doc talked about giving her something for sleep we would be up front with her about what the "white pill" was for. I deliberated whether it was right to put it in her head that she is taking a pill to help her sleep but if there was any merit to even the placebo effect helping I was willing to go there.

Within a half and hour of taking her pill she looked exhausted. I figured it was probably the placebo effect in full bloom. We put her to bed and she was out within 10 minutes! VICTORY!!

The next morning when I asked her how she slept (as I always do) she smiled and said "good mommy, because I had my white pill". I didn't know whether to laugh or cry.

In the few days since she has slept like a baby. No waking up at night. No problems falling asleep. It has been wonderful. Better than wonderful. It feel so amazing to put her in bed and kiss her good night and know that instead of tossing and turning and talking and crying for two hours she would SLEEP!

It remains to be seen whether this will last or whether it's placebo or whatever but I am looking at it as a small victory for us!

Neurogenetics

2011-02-16T17:47:00.000-08:00

Today was our (semi-dreaded) annual neurogenetics appointment. I was very nervous because I wasn't sure what the appointment would yield, what other appointments it would lead to and if we would click well with the new doc. First things first the doctor was awesome! He was good with Abby and she responded well to him. You could tell that the child that he read about was not the child he saw in front of him. He was blown away by how awesome she is doing! YAY!!

Here is the rundown of what we discussed:

- The OT at CHOP doesn't feel that brushing is for Abby. Not sure what we are going to do with that info but it was interesting. She felt that things like brushing are purely passive and more active types of strategies (heavy work, wheel barrel walking, etc.) are better for a younger child.

- The PT is pleased with how school is handling her PT. We have some concerns but she reassured us.

- Abby is going to start taking Melatonin (a three month course) to try to help with the sleep issues.

- Our wonderful genetic counselor is going to slide Abby into one of the neurogenetics slots with the developmental pediatrician so instead of 9 months it should take 2!

- Abby is FINALLY on the growth chart. She's tiny but she's on it. :D

- The Ataxia has improved a great deal. Her balance and gait are good for where they expected her to be.

- Very interestingly, while we thought she only had hypoplasia (thinning) in the back portion of her corpus callosum she actually has partial agenesis.

- NO BRACES THIS YEAR!!!

- All in all she is a neurogenetics rock star. Based on what her MRI's look like she should not walk or talk or think or be cunning and smart alicky. :D She is so far above what she "should" be doing it is amazing!!

The weird part is that despite all the wonderfulness that was this appointment it is still a little frustrating. We hear A LOT about how she is doing "compared with what she *should* be doing". I feel like in the midst of that some of what she *could* be doing gets lost. It's hard to explain but it is almost as if I should be thankful that she can walk and talk and I need to "relax" on some of the peripheral stuff. As her Mom it is MY JOB to NOT let the peripheral stuff go. If I do than it will slip through the cracks.

I do want to end on the bright side though. She is amazing. She is a complete and utter miracle. You look at how mushed and squished and malformed her little brain is and then you look at this wise-cracking, humorous person and it is astonishing. She is astonishing.

Stressed

2011-02-15T11:00:00.000-08:00

Tomorrow is the "Big Appointment". The stress is settling in. Making sure we have enough to entertain her through 5+ hours of doctors, nurses, tests and therapists... making sure we have our list of questions... it makes my brain spin.

I am so glad it is almost here and over with. I am even more glad that Brian is going with me this year. Doing it alone last year was awful.

Hopefully this year we won't end up with *too* many follow up appointments.

Brushing

2011-02-14T13:05:00.000-08:00

We're done! We completed our 3 week "course" of brushing so Abby's OT has stepped us down from EVERY SINGLE TWO HOURS SHE IS AWAKE to as needed. Yay!

All in all I am a skeptic (at best). Brian feels like it helped a great deal. I think that is maybe helped a little but other strategies we are using have more to do with it than brushing. Don't get me wrong I do believe that brushing works for some kids and I think it did help somewhat. It just didn't have the major impact that I had hoped for. We saw a slight reduction in the severity and length of her tantrums and it helped a little with her impulse control.

I guess I should have the attitude that anything that helps is worth it but I feel like the ratio between the effort put in and the outcome was probably not really great. Over the past three weeks we have had to fight her every two hours to get her to sit still and be brushed. She hated it the entire time. And at the end the impact was minimal.

At least we can say we tried.

Neurogenetics

2011-02-12T04:51:00.000-08:00

I posted a few months back about how our amazing neurogeneticist left CHOP to move on to a VERY presitgious job at the NIH. While we were so sad to see him go we also knew it was a job of a lifetime for him. Anyway, we got moved on to a new neuro. I am very apprehensive because while he is a very highly acclaimed neurologist who specializes in genetically based neuro disorders he is NOT officially trained as an exclusive neurogeneticist. That makes me a little nervous. We have not yet met our new doc but will this week. We have our "Big Appointment" this week.

Once a year Abby is seen in the neurogenetics clinic at the main hospital. It is generally a five or more hour appointment which looks more like a dog and pony show than an appointment. Last year we saw a genetic counselor, a PT, an OT, a social worker and the neur. The appointment took hours and hours and hours. The worst part was that we didn't know it would be such a long appointment so I went alone and I brought almost nothing to keep her busy.

This year Brian and I are both going and we are going well armed. That being said I am still nervous. Appointments like these tend to lead to more questions than answers and generally yield several new appointments. The appointment is on Wed and I CANNOT wait to get it over with!

More on sleep

2011-02-11T02:22:00.000-08:00

This week we had (for the first time since Christmas) an "easy" night! They went to bed with minimal battle and went to sleep within a half an hour of being in bed. It was magnificent. It was unfortunately short lived since the next night was back to the battle. It felt so nice to have a "normal" night.

We're hoping that this very slow progress continues until we reach a point where they can get to sleep without so much fan fair. Time will tell.

Dog Update

2011-02-09T06:06:00.000-08:00

Another option has arisen! I was doing some more digging and found something really cool. One of the problems we were going to run into with a service dog is Abby's age. Many agencies require children to be 8 and older before they will place a dog. While I am happy to wait I hate the idea of not moving forward with something that could be so awesome for her.

Well, one of the agencies I contacted e-mailed me back with a suggestion. They have something they call a Home Companion Dog that they offer for children younger than the required age of 8. Here is how it works. To train a service dog the agencies train twice as many dogs as they require. For a year to eighteen months a dog spend their time with either a trained inmate (through a special program) or a family who trains the dog to be housebroken, command trained and socialized. They also begin laying the groundwork for the training the dog will later received. After that first year or year and a half the agency assesses each dog and they "retire" any dog who has a medical or behavioral problem. The remaining dogs go through testing and the "cream of the crop" goes on for training as a full service dog. The remaining dogs are highly trained, well socialized dogs who are turned into Home Companion Dogs for children with disabilities but do not meet the age requirement. The best part is that Abby is eligible.

You must live within a specific distance of the facility (which we do) and you must go through an application and interview process. Because these dogs are trained to be companions for kids with medical, physical, emotional or sensory issues this sounds like such a fantastic opportunity for Abby. So we have made the decision to start the process. It takes between 6 months to 18 months from the time you submit your paperwork (which will take a couple of months) to be matched with a dog. Then you meet the dog, make sure it is a good fit, make a donation (less than $1,000) and adopt the dog.

So it will take a while but hopefully in the next year or so we will have a dog for Abby and for the rest of the family. I will make sure to post as we move though the process.

Hard to put into words

2011-02-07T06:48:00.000-08:00

Over the past 6 months something has changed in Abby. It is so hard to put down "on paper" what the change is. It is nearly impossible to express it without sounding negative and mean and down-trodden. It's a tough time for us all right now.

From the time Abby was born she was the sweetest, happiest, most laid back child you would ever want to meet. She NEVER greeted us without an ear to ear smile. She persisted through doctors, surgeries, therapies and so much hard work for such a little person. She used her walker and her helmet and her rails without ever missing a beat... and always with a smile. She was the kid that everyone wanted to be around. She was downright inspirational. Her inner strength and happiness were so contagious it was enough to make you want to be a better person.

She got diagnosed with RS and it was like a weight was lifted off of our shoulders. Yes, she had a rare and weird diagnosis but she was going to be fine. She would need help to get around and she would be a little slower than most but it didn't matter. Her incredible personality was going to carry her through. Her intelligence, her sense of humor, her likability, her joy... they would spring her into an amazing and successful life. We were sure of it. I never worried about that part of her life.

And then, like I said, over the past six months something has shifted. She is still all smiles. She is happy most of the time. She is tiny and cute and imp like and so smart it is unbelievable. And this is where it gets tough. She has changed. Her prognosis has changed. When her symptoms rapidly shifted from being 100% motor to 50% motor and the other 50% some mish-mash of sensory dysfunction, emotional regulation problems, acting out, aggression and frustration. She is like a different child.

Maybe it was a lifetime (albeit short but nonetheless her whole lifetime) of struggling to do anything. Having to work to do the simple stuff like roll over and pick up an object.

Maybe it is just another part of her diagnosis unraveling itself.

Maybe it is her personality.

We don't know. But what I do know is that the worry about a lifetime of having a little trouble getting around versus a lifetime of psychological, emotional and sensory paired with motoric dysfunction are two different worlds. Most nights I can't sleep I worry about what life will be like for her. I used to see her surrounded by friends, succeeding at everything she did just showing the world how capable she is. Now I worry about the fact that she can't make friends and has a hard time socializing. I worry that the obsessions and compulsions will get so bad that we have to medicate her. I worry that because she is so impulsive and reckless that people won't want her to play with their children.

Some of it is the typical worry of any parent. But some is much darker and scarier. No parent knows what the future holds. But being a parent of a child whose life is going to be ever harder than "normal"... it's downright terrifying.

Behavioralist Update

2011-02-06T07:45:00.000-08:00

The saga continues... as always.

After four week of waiting I FINALLY heard back from CHOP's behavioral division. They called to tell me she was too young for their program. Seriously? They couldn't call a month ago and tell me that???

Anyway, the woman I spoke with recommended I make an appointment with a developmental pediatrician (which I wanted to do two years ago but got talked out of it... damn!). Problem is that the waiting list is 9 months to get in. She suggested that I have one or more of her specialists lobby for an internal referral which would expedite the process. SInce we have the neurogenetics clinic in two weeks I am going to wait and have them lobby on our behalf.

So again, we wait.

Explanations

2011-02-04T01:40:00.000-08:00

This is not a new theme to my blog... I know I am being repetitive. I think I have blogged about this more on my other blog than here so I am allowing myself one more opportunity to vent about it.

Being a parent of a special needs child of any sort means that your life is full of explanations. You are constantly explaining things to doctors, teachers, family, therapists and on and on. It drives me mad having the same discussion OVER AND OVER AND OVER but I know it is a necessity. I can live with it.

The explanations that are the proverbial "straw that breaks the camels backs" are the everyday ones. The ones where you are in public and someone asks why your child is flapping or a stranger in line wants to make sure you are aware that your child is spitting intentionally or the millionth time explaining to a family member why she rolls her head when she gets excited. Sometimes I explain and other times I avoid But every single time I want to just respond with "none of your damn business". I know it's cold but it's also old. I have been doing this for years. Why are her eyes crooked? Why is she so small? Why is she SO much smaller than her twin? Why does she flap? Why doesn't she look you in the eye? Why does she spit and flap and hit when she sees a baby in a carseat? Why? WHy? WHY?

I WISH I KNEW! Trust me I wish I had an answer. I ask myself the same questions EVERY SINGLE DAY. I have NO answers. I probably never will.

I wish I had this attitude that it is my job to educate people about her condition. But because they will NEVER EVER meet another person with RS why the heck bother?

Brushing Update

2011-02-03T11:37:00.000-08:00

Just a quick update on how the brushing is going. We are on day eight (out of 21) of brushing every two hours. While it only takes about 5 minutes it is still a bit of a chore. She fights us on it most of the time which makes it worse.

We are seeing some minor improvement (less severe tantrums and slightly better self soothing capacity) but it was not the big turnaround we were sold. All in all I am mixed. It isn't hurting her so we're keeping at it. She is still flapping and head rolling non-stop so the brushing is not helping that part of it (I honestly didn't think it would).

I guess we'll see in the end if it seems worth it.

No weight gain

2011-02-02T06:30:00.000-08:00

So it has now been 6 months since Abby gained any weight. She is growing taller... since none of her pants are long enough. Unfortunately she is looking thinner and thinner. The endocrinologist is satisfied that this is just how her body wants to grow. For the most part we don't worry about it since she eats adequately and her diet is quite varied. That being said I do worry (somewhere in my brain) that she is getting all of the nourishment she needs. I think any Mom of a tiny tot worries about that.

It is something I will bring up with the neurogeneticist next month but because small stature is part of RS I am guessing it won't be of huge concern.

Guess in some respects it works for us. She can't always walk so having her be so tiny makes it so much easier for us to carry her or put her in the stroller. If we are walking outdoors she still fits nicely in the big backpack carrier. If she was 38 pounds (instead of almost 28) there would be no way my back could handle it.

I guess it is all part of "The Plan". :D

A dog for Abs?

2011-01-31T06:21:00.000-08:00

Last year during one of the monthly meetings with Abby's social worker (who I miss SO MUCH! she was so helpful) she mentioned the idea of Abby someday having a service dog. I filed it in the back of my brain... largely because I remembered reading an article about a little girls with developmental delays and motor issues like Abby who had her life changed by a service dog. I hadn't thought much about it until about two months ago when I read another article about service dogs being such a huge help for so many different kinds of people. (People think they are for blind people or those wheelchair bound, but they do so much more.)

I decided recently to start poking around and I was quickly shut down when I read that they cost minimally $5,000 to adopt. I could never justify that kind of cost unless it was a MUST.

My sister told me about two months ago that she knows a woman who adopted a dog who was trained to be a service dog but was unable to pass the certification test for small reasons. It got me thinking that maybe adopting a dog who couldn't pass because it didn't go under an airplane seat or something minor might be a good way to go. I sent a couple of e-mails to inquire but didn't hear anything.

After we lost Rex I felt like I needed to let it go for a while so I put it back on the back burner. Then, out of nowhere, I got TWO responses to my e-mails. Both e-mails (from two different organizations) told me that adopting a "career change" or retiree would be difficult since the lists are so long. BUT they explained that the cost of adopting the dogs is usually covered through fundraising, contributions, company matching and sponsorship. I was a little thrown aback. It might actually be a possibility.

So I am doing a little looking into it. There are age requirements so I am not sure what the timeline would be. I just love the idea that when she is 10 and she wants to walk around the corner to my Moms house she could go "by herself" (instead of me walking her) with her dog and I wouldn't have to worry about her falling and hitting her head or breaking anything. It would be such an amazing thing for her.

I think it will be a long process but it looks like it might be one worth starting.

Brushing - Day 3

2011-01-28T13:46:00.000-08:00

We are in the middle of day 3 and at this point I am mixed. I read through the literature and it points out that in most kids they initially over-respond to the input and have a few rough days. I am hoping that is all it is. She is still crying every two hours when she has to be brushed. She is NO BETTER... AT ALL. She is still flapping, rolling, spinning, spitting, threatening, not listening to a darn thing I say and acting like she is possessed.

Hoping for a better day 4!

Brushing - Day 2

2011-01-27T20:01:00.000-08:00

If it's possible to have done a 180 that fast... we did.

To rival yesterdays smashing success with brushing today was an epic fail. Abby spent the day flapping, spinning, head rolling and crying every two hours when brushing time came. We know it is an adjustment and we also know that the "brushing guru's" believe that this technique actually "rewires" the brain. So that being said we don't want to abandon ship without even giving it a chance.

BUT (and that is a big but) it is miserable having to not only do this "thing" every two hours but to also have to talk her off the ledge every two hours is awful. We are hoping that tomorrow is a better day. If not we're just not sure what to do with it.

Brushing - Day 1

2011-01-26T20:43:00.000-08:00

We officially started using the Wilbarger Brushing Program for Abby. This means that we follow a VERY specific brushing, joint compression and oral input regimen EVERY TWO HOURS while she is awake. Thankfully we will only have to follow this rigorous schedule for three weeks and then we will only have to brush a couple of times a day and then as needed (birthday parties, church, going out to eat, etc.). The thought it that if she will be positively effected by the program we should see the benefits immediately. I can say that she had a much better day today than she had had in a long while. She was very organized (settled) and very tantrum free. Was it a fluke or was it the brushing??? We shall see!

The Behavioralist

2011-01-26T10:34:00.000-08:00

This week I had a chance to have a phone meeting with Abby's OT at school. We needed to talk about her new fixations and tantrums in terms of what degree they are sensory based. She armed me with some new strategies to try until we get in to see someone.

She also told me that the township has a behavioralist on staff and she has put in a call to get her on Abby's case. She is apparently trained as an SLP, autism therapist AND behavioral therapist. So she sounds like a great person for Abby. So now we have to wait. She is one person for the whole township so it might take a couple of weeks. The OT is going to try to pull some strings and get us in contact sooner rather than later. Fingers crossed!

We also got word back from CHOP's Behavioral Unit. It looks like it would take at least 8 weeks to get seen. I am also not sure that it would be the best fit. It is very much for children with very serious and dangerous mental illnesses. While I don't want to minimize her need to get help I don't think that is the avenue I want to go down.

We'll see.

Brushing

2011-01-24T14:38:00.000-08:00

I spoke with Abby's OT today about everything going on with her and the OT has asked us to try the Wilbarger brushing program for 2-3 weeks and see if it has any effect on her. She has always been resistant to brushing and favored joint compressions but at this point I am willing to try anything that might work.

I go in to school on Wednesday morning to have a training session with the OT on the specifics of the program.

Where is her walk-a-thon

2011-01-24T01:20:00.000-08:00

Every time I check out at the local grocery I am asked the same question. "Would you like to donate to help children with special needs?" Every time I am asked this question my mind goes. I want to say "I am, every single day when I have to buy the new therapy equipment or pay for the latest specialist visit." Or "yes, but will my special needs child be helped?"

What I do say is "sure" and pull off my $3 tag to help Saint Jude or Jerry's Kids or whatever their charity of the month is. I leave the store feeling crappy because I know I shouldn't feel so resentful about giving but I do. I can't help it.

When I browse the internet doing research about RS or venticulomegalies or posterior corpus callosum hypoplasia I am met with site after site collecting money for CP or Downs or Juvenile Diabetes or another commonly known disease or disorder. And every link to collect your money or sign you up for a walk-a-thon or whatever else is out there makes me feel sad.

Where is Abby's walk-a-thon? Where do I click to donate money to RS research? Who will help her when she's older and has medical needs and I can't help her? What organization is going to help her afford the assistive equipment or dog or whatever she will need?

It is one of the most challenging parts of having a child with a rare diagnosis. The research is limited. The information about prognosis is limited. And the help is limited.

We will never know what causes RS... at least not in our lifetime. There is only one study being conducted on RS and it is so poorly funded that it is going nowhere. It isn't even focusing specifically on RS because the scope is too limited. We are struggling with whether or not to even bother participating. Basically if we do it will be AT OUR EXPENSE. Like financing her care isn't expensive enough.

I guess we will only ever get answers by living it and experiencing it. I can live with that. I wish I had more hopeful literature to read that would answer some of our questions about her future. But instead we will have to be patient and see what life brings.

Eyes

2011-01-21T07:16:00.000-08:00

Last week we had Abby's nine month follow up with her ophthalmological surgeon. We have been anxiously awaiting this appointment because the girls OT at school has been seeing problems with Abby's eyes wondering and not fixing properly when she is in session. We have always seen her one eye drift slightly since right after the surgery but the surgeon (who is one of the best in the field) assures us that it does not require a follow up surgery and that glasses are not warranted.

It was the typically long CHOP appointment. She was seen by two residents and a nurse practitioner before we saw the surgeon. Long story short she was VERY cooperative (impressing the office staff by doing her eye exam with letter instead of the typical shapes) AND her eyes looked great. Dr. A didn't think glasses are warranted at this point and he said her vision is a little better than average for her age.

We talked a little about things like vision therapy and he felt that it just isn't warranted. The problems we are seeing are largely neuro (which I anticipated anyway) and trying to treat them with typical vision correction isn't going to help. So I guess that was good and bad news. I am just going to focus on the good part. No glasses and no vision therapy!

In the same vain...

2011-01-19T01:10:00.000-08:00

In the vain of the last post I wanted to write a little bit about our new realities. When Abby was diagnosed in utero with a strange cluster of brain abnormalities we were told that she would likely never walk, talk or think like a typical person. This obviously shook our entire world to the ground. It took us a long time, many struggles and sleepless nights and so much work to get accustomed to the new life we were about to have.

While we were going through the process of uncovering her diagnosis we read as much literature as we could get our hands on. I spent hours reading about all of the potential symptoms that she could experience as a result of her abnormalities. As she got bigger we started to see them. She didn't hold up her head on time. She didn't smile on time. She couldn't roll over or sit up or crawl. She didn't walk until we finally invested in a walker. She couldn't gain weight. She flaps and spins. Her eyes crossed.

There were other symptoms the literature referenced but we didn't see any of it. Mental illness, OCD, anxiety disorders, sensory disorders (which we did eventually see), problems with vision and hearing, obsessions and fixations, social problems, and on and on and on. We considered ourselves so blessed that her troubles were motoric and we could work on them with therapies and equipment. So we worked and worked and worked. And every day we saw very slow but steady progress.

And then we saw the wave coming towards us. First she had to count during certain anxiety provoking scenes in TV shows and movies. She would have to count to ten ten times. Then she started withdrawing socially. The flapping and spinning increased. She has to have her things in a very specific way or she cannot function. And so many more.

We didn't prepare for this. We weren't ready. It was like getting blindsided. Bring back the walker and the braces and the helmet. Those things were so easy, so available. But an emotional mess... what the hell are we supposed to do with this. We have no specialists waiting in the wings like we did for her eyes and ears and legs and feet. There was no army forming to battle the next problem. BLINDSIDED.

So instead of going to battle armed and ready we were surprised in our sleep. We are scrambling. We are searching for specialists and appointments and therapists. They are so hard to come by... at least the good ones are.

I guess life truly is never what you expect. Just when you think you have it all figured out you realize just how little you know. Thankfully I am ready to learn.

Facing Realities

2011-01-17T01:04:00.000-08:00

From the first moment when you are told that your child has something wrong your world is rocked. You become quickly accustomed to the fact that you will now face a whole new world of realities. You can throw away the books. You can ignore people's advice. You can stop asking your friends if their child did the odd thing you child has taken to doing. Reality is something new and different.

First you let go of the idea that your new child will be "perfect". I think every parent has the realization at some point that their child isn't perfect (and that no child is). They just probably don't do it sitting in a doctors office. Then you have to mourn the loss of what you envisioned. This takes time. And just because you mourn it once doesn't mean you are done. Oh no! This mourning will come in waves. You will think you have it all figured out and you can handle it. Then the next giant waves crashes and you start over again.

Then you will, on a daily basis, have to become adaptable and flexible. Each day will bring it's own new version of "reality". If you don't learn to adapt quickly you will fall on your face.

So on the day that you finally wake up and realize that what you thought would be "reality" is gone then you can learn to stand on your own two feet and face the new reality. At least until the next wave comes...

Update two for the week

2011-01-15T19:08:00.000-08:00

SO all the progress we made last week seems to have faded. Brian and I went out for the night to get dinner and run some errands. Abby got herself so out of sorts that she screamed in her bed for two hours. I lost my cool and went in her room and yelled at her and then she quieted down. This whole process is so frustrating. Everyone who has ever had even the minutest problems getting their kid to sleep gives every ounce of advice available. I am not sure they have ever had their baby screaming in agony "it is too hard to fall asleep" until they throw up in their bed.

It isn't just about not *WANTING* to go to sleep. She just isn't able to get herself settled. The frustrating thing is that we have worked for the past two years on techniques for her to self soother and nothing is working at all. She just can't get herself settled when she gets revved up.

Before the girls started school I had some fears about OT moving to a school setting where there would be little focus on home. Now I feel like this is my fear actualized. They might be able to get her to settle for two hours at school but for the remaining 22 hours of the day she is a complete mess.

Ugh!