The Questions You Really Want to Ask?

Raising a child with a rare condition like rhombencephalosynapsis is something entirely different than most parenting experiences. If your child is born with a disease that has been studied and most doctors have heard of you have channels to gather information. When your child is among a group of people that number in the hundreds at best your channels are much narrower. I have been lucky enough to use the internet to meet some wonderful people and gather plenty of information. When I look back at my early days of gathering information what strikes me most are the questions that I really wanted to ask but didn't dare. I have compiled a list of some of those questions and I am doing my best to answer them with a few years of Rhombencephalosynapsis parenting under my belt. Here goes:

Will my child look normal?

Will anyone want to marry my son/daughter?

How am I going to afford all of these appointments and medical crap?

How the hell am I going to do this?

How will this effect my other children?

What do I do when the doctor caring for my kid has never heard of her diagnosis?

How long will my child live?

Will She be able to have children?

Will she make friends?

How will my extended family handle my child?

Will the kids at school think my kid is weird?

Will we need things like a wheelchair?

Why are her eyes crossed?

If she is different, will she grow up and move out or will she always need me?

What do I do if I have questions no one can answer?

Am I alone in this?

Will it effect my marriage?

Snow and RS

It's been ages since I have had an opportunity to put together a post. Abby is doing wonderfully in third grade, with a teacher who can truly handle her well. She's had some balance issues in the past few months, which we are attributing to either inner ear fluid fluctuations or a growth spurt. Really, and thankfully, there is little to report in the world of RS.

We did notice a funny RS-related accommodation she has made to handling the snow. For years she has used these ski pole like contraptions to make her way through snow. Without them she can't manage to walk almost at all. When she was smaller she was stuck in an inner tube with a rope. :D This weekend was our first big snow fall and we noticed that she was making her way through the snow without her poles.

As it turns out she has discovered that when she comes to a larger pile that she can't make it through she flops on the ground and shimmies to shallower snow. It's hysterical... and it works! She was climbing the big snow hill (from the plow) and managing to sled down ON HER OWN! It's amazing how these kids can manage to make their world work for them!

Update

When I was reading over an e-mail I was composing to update how Abby has been doing to our friends at the University of Washington I had to take a minute, sit back, and think about how far this child has come. This what I had written:

I apologize for the delay in my response. Abby is going amazingly well. Her health has been excellent over the past year. She still has asthma, very serious food allergies and is small in stature but this has been her healthiest year yet! She is academically well above average. She is finished the 2nd grade school year reading above the 5th grade level and on par with 4th grade math. She still participates in OT and PT but will scale back her OT in the coming school year. Her balance steadily improves over time but she periodically experiences balance “setbacks”. We haven’t established whether it’s inner ear fluid, growth or just her RES that causes it. She is participating in track (yes, TRACK!) and doing so much better than we even expected. We thought she would be the slowest on her team and that is not true. She falls occasionally but can run very FAST! She just qualified for our local track and field championship in both a relay event and the long jump. She can long jump over 7 feet, despite her only 45” frame. She is attempting to qualify for the junior olympics in the long jump event. 

Is this the same kid I used to write about? Is this the same girl who we truly thought might never walk or climb or sit on her own? Can this really be the kid that required 5 day a week therapy to ensure she could learn to roll over? 

How can this be??? 

It is amazing. I will never, ever, ever forget how long and hard we all had to work to get her here. The therapy, surgery, doctors visits, exercises, appointments, hours of conversations and planning and on and on and on. It was SO DAMN HARD for all of us. But this, this makes it all worth it. 

My sweet, sweet girl

I write so much about how Abby has a knack for kicking ass and taking names. The kid is a freaking enigma 99.9% of the time. People who meet her CANNOT believe that she is a "disabled" child. And in honesty, most of the time, neither can I.

But then there are those few and far between times that break my heart. Like tonight when she had a massive allergic reaction to a food allergy exposure. And after her tiny body wretched out the contents of her stomach and she laid in the tub itching her skinny little body I wanted to either cry or climb into that bathtub fully clothed and comfort her.

Why is life so hard for her? How the hell is she going to be a teenage with all of her "Abbyness"? How is life going to treat her? How the hell can I protect her from it all? I try to remind myself that she is easily 100 times stronger and more resilient than I am. She is a study on toughness. But I am her Mom. I have watched her suffer through therapy, surgery, anesthesia, doctors, braces, glasses, shots, tests and so many other things. I have rubbed her backed and shushed her through so many tears but I had to sit there and watch EVERYTHING be harder for her.

It isn't fair. None of it. Not one damn minute. Thankfully she doesn't even know it. This is her life and this is how it is for her. But for this one tiny little minute I question why it has to be so much harder for her.

I don't know now but I know there has to be a why. I guess we just have to be patient and wait for the answers. I am just incredibly thankful these moments are truly few and far between.

Posted by Kristen Fescoe

RS and the perils of being a twin

Most of the time being a twin has served Abby very well. If it weren't for Grace hitting milestones on time I am not sure we would have realized so early on that Abby was behind. I doubt she would have crawled or walked when she did had she not had a sister to keep up with. There are things like running track, swimming, climbing at the playground, etc. that we might not have done had Grace not been more developmentally age appropriate.

But every once in a while it back fires. Like tonight. Grace is a great swimmer. She has been swimming since she was four. Abby is a good swimmer although her awkward development means awkward swimming. If you throw her in the middle of the pool she can swim to the side (thank God) but it isn't necessarily pretty.

Grace has practiced all summer and tonight she passed her diving board test. She had to swim the length of the pool freestyle, tread water for 30 seconds and swim back. This is not easy as we have a big neighborhood pool. It is actually a feat few 6 years olds accomplish at our pool. While Grace was swimming Abby was her biggest cheerleader. After she passed Abby was hugging her and cheering for her. She was the first in line to watch her dive.

Then it dawned on her.

Grace accomplished yet another thing that she did not. She got passed by. Her "disability" slowed her down. Although not entirely true because Grace is a physical anomaly for her age but still...

That's when the tears start. And the snowball effect happens. It becomes all too obvious that she is different. She is slower and weaker and can't do everything that she wants to do. In those moments the fact that she has come SO FAR means absolutely positively nothing to her. And that isn't easy to watch.

Lucky for us those moments are few and far between. But when they happen... we all want to cry with her.

Posted by Kristen Fescoe

A few things I've learned

The past almost six years have taught me A LOT of lessons. Here are a few of the things I have learned along the way.

The Good:

1. It isn't as hard as I thought it was going to be. 
2. It isn't as bad as I imagined it. 
3. It isn't as rare as they had us believe. 

The Bad:

1. It isn't easy. There are a lot of tough days. 
2. Watching life be a little more difficult for your child is hard. Really hard. 
3. Parenting is hard. Parenting a round child that doesn't fit in a square hole is harder. 

The Ugly:

1. You will spend more time in a doctors office that you thought possible.
2. You will know every nurse, office assistant and doctor by first name. 
3. You will wonder if life will ever get easier (see above... it does!)
4. You will question EVERY. SINGLE. DECISION. you make. 

Posted by Kristen Fescoe

Never walk, huh?

I can still go back there in my mind. That moment when I realize my baby would NOT BE NORMAL. First it was that horrible, wordless ultrasound. Then it was the meeting with Dr. "Gloom and Doom" when he outline for us all the things our daughter would likely never do.  

"She will most likely never walk or talk" he said.  

"It isn't likely that she will be able to think normally. " He continued. 

And I swear that it was in that moment that my girl decided to stick up her middle finger at the medical establishment. From that moment on she has been nothing but a medical miracle. 

My girl is running track. And every time she rounds the corner at full tilt I want to cry. That tiny baby who would never walk IS RUNNING. FAST. 

She is kicking ass at the long jump. My tiny little peanut (she's all of 3 foot and some change) jumped 5'2" at the last meet. 

She is kicking ass and taking names and I couldn't be prouder. So the little girl that needed a walker and a helmet (she still needs it on the playground at school) and surgery and therapy and a team of doctors is part of a team. She's one of the most popular kids on her team. She amazes me. I mean, seriously, literally, truly amazes me. She might fall on her face every other practice but she jumps up, laughs it off and KEEPS. ON. RUNNING.

We all need to keep on running.

Posted by Kristen Fescoe

A Unique Perspective

Most of the members of the RS/RES group that I am a part of are parents of young children with Rhombencephalosynapsis. This is probably because we are not sure what the future holds for our children so we all are in search of answers (and camaraderie!). Recently one of our group members, Nichole, an ADULT with RS shared her story with us. She was kind enough to give Heidi and I permission to post it. Without further ado:

To my RES family,

I was diagnosed with RES by an MRI only 2 years ago following memory problems (forgetting to pick up my children from school, leaving hotplates on, forgetting regular phone numbers), and some nerve/sensory issues in my left shoulder (A sun burn feeling -  Parasthesia). I have very little Vermis on my cerebella and no midline. I have a slightly enlarged ventricle as well. I took my MRI to my neurologist who replied “You should be thankful you don’t have something serious like MS. Come back in a year and we will see how much your memory has declined”.

I have been looking for another neurologist to see ever since. I have not found any near me who know anything about RES. I am worried about my memory decline, and would love someone to tell me if I can do anything.

I asked the neurologist what is RES, and he said it didn’t really need addressing, it wasn’t affecting my health, and that I’m ok. Everything I know is from scientific journals (I have a science degree which has helped immeasurably), I have trawled websites and I have learnt so much from you all in such a short time….my RES family.

At the time of my memory/nerve issues, I spoke to a doctor for the first time about my weird brain stuff. Prior to that it had all seemed unconnected.

Sometimes I write with numbers in the middle of my words. I use 4 and f interchangeably all the time, however I have no trouble reading, never have. I can’t write a phone number down right the first time…ever… I need to check it 2 or three times.

I can’t tell left and right despite being a dancer all my life and a dance teacher while at uni. I would teach by pointing my fingers one way or the other.

I get lost ALL the time. In my local shopping centre, in my home suburb, on the way home from my gym across town. I get disoriented a lot. Even in small places, like a public toilet, I find it hard to find the exit. I need directions to get almost anywhere, and directions to get home as well. This is perhaps the most distressing part of my RES. I grew up in a small town, and my parents would always comment on how I never remembered where people lived, or where my dad worked. They thought I was just not really observant.

I am super clumsy. I have loads of scars on my legs and hands, I am constantly bruised. I have had a few big falls, especially as a kid and chipped my pelvis. Fake tan does wonders for bruised legs. My feet and my eyes are turned in. As a kid they called my eye condition congenital esotropia. The term is incorrect now, as I now know I don’t have “normal neurobiology” one of the diagnostic features. I also wore orthotics, which I hated, and I don’t think helped all that much. I have had 4 lots of corrective eye surgery all pre RES diagnosis. My eyes just eventually turn back in, especially if I am tired. It is considered elective plastic surgery here, so each time I have had to wait years, and have paid a lot for the ophthalmologist.

I have worn glasses since I was a baby. Only 4 years ago I was given a pair with a Prism, which drags my eye out. They have been great! I can read more smoothly now. I don’t see out of both eyes at once. As a kid I wore a patch/tape on my glasses, which from what I gather did not a lot at all.

Thus I have huge issues with depth perception. It took me 7 years to master my driver’s license test (all pre RES) and I had no idea why I was so bad at driving.

I can walk fine, though not in a straight line. I have a bit of a funny gait, and my head does have some forward backward movement when I walk, but no shaking side to side. I have trouble with proprioception. I feel like I don’t know which way is up sometimes. I always put my hand out in front of me when I walk through doorways, and I have trouble negotiating stairs.

Some of my nerves (ulnar/radial) in my hands innervate the wrong muscles. It hasn’t affected function, but I’m pretty sure it’s a weird RES thing.

I have some sensory processing issues. I hate lots of noise. I can’t filter noise in crowds. This manifests as Anxiety sometimes.

I have a blood clotting issue as well. I had a bilateral pulmonary embolis at age 18. I have been on and off anticoagulant treatment ever since. I have no idea if this is RES related, but they have never adequately diagnosed why my blood does it. It does not fit with other recognisable blood conditions. This is a lot of trouble when I travel. I get Deep Vein Thrombosis, so have to wear the leggings, carry injectible medicine with me when I’m more than 2 hours from home and when I fly, and my travel insurance won’t cover me.

Because I wasn’t good at sports at school, I studied hard. I did very well at school and went to a selective high school. I had a rebellious adolescence, left school, had a baby, then settled and went to university. I did very well at uni, and studied Science. I fell into psychology (by failing chemistry twice, despite giving it my all) and I now work as a clinical practice leader across a statewide specialist youth mental health/drug and alcohol service.

I married while I was studying. I have 2 amazing, healthy children. My daughter Halle looks exactly like me. She has all the same features as me. No signs of RES. My son is completely different to me. No signs of RES.

Things that helped…

My parents never knew I had RES, so my dad made me play heaps and heaps of sports. I think he thought I would learn coordination. It didn’t work, but it made me much more resilient. I was however, a great swimmer. I liked that it drowned out the sound.

All of my de-stressing strategies involve quiet time. I love the bath, the shower with my head under, doors closed. If I’m home alone I turn the TV off. If I listen to something, I listen to only one thing at a time. Sensory loading helps. Using smells and tactile sensations helps with my anxiety.

I do a class at the gym called “Body Balance”, it is a yoga, Tai Chi, Pilates mix to music. It has a whole section on balance. It has helped a lot.

The prisms in my glasses.

Finding someone who loves me, just as I am

I hope this helps someone, even a little.

Nichole (33 years old)

From Australia

I cannot personally thank Nichole enough for sharing this with us! 

Posted by Kristen Fescoe

Rare Disease Awareness Day

We have all seen the myriad of ads for various awareness days and ribbons and fundraisers for diseases. But what happens when no one has heard of the disease you or your child is diagnosed with? 

Abby has something called Rhombencephalosynpasis. This (and I am oversimplifying a little) means that where her cerebellum should be two separate lobes it is instead fused together with no vermis. She also has hydrocephalus, enlarged 3rd and 4th ventricles and partial agenesis (fusing) of her corpus callosum. 

When I was pregnant with her the doctors told us that she would be very unlikely to survive pregnancy and birth and that if she did the chances of her walking, talking or thinking about be minimal. We decided to take our chances and have some hope. I'm glad we did. 

Despite the doctors being SO WRONG she still struggles. With everything from balance, to fine motor skills to her social interactions with peers... she struggles. 

When your child has a diagnosis that people can understand they are (sometimes) sympathetic. People are willing to raise money and wear ribbons and do walk a thons. When they cannot pronounce the condition your child has you get a lot of blank stares and stupid questions. That part is hard. There is no where to send a check so that future generations of children with RS can have it a little better. There is very little research being conducted. VERY few doctors have a clue what it is. 

So today is Rare Disease Day. It's a day for families like ours to display our ribbons. I'm not personally trying to raise money, just a little awareness. (Although you can donate to the Rare Disease Cause HERE.) My daughter doesn't have cancer or downs syndrome or cystic fibrosis but she deserves as much awareness as any "known" disorder. She deserves to have people try to understand what she deals with. 

Today is her day. 

Stupid Friend

One of the less talked about parts of Rhombencephalosynapsis is the social aspects. I think this is an area that vary greatly from RS kid to RS kid. But from talking to other parents I think this is an issue for many RS families. Many kids with RS have social skills that may be lacking. For Abby this is definitely the case.

In preschool one of her primary IEP goals was to make and keep 1 friend. (Can I tell you how sad this was as a parent???) She is usually the kid, in a group setting, who either hangs by herself or finds the nearest grown up to talk to. She will play alongside others but rarely with them. Even when Grace is playing with a group and invites Abby in she will stick to herself. The only person she really played well with until recently was Grace.

In four-year-old preschool she did a little better. I think the small class size (7) and familiarity (all the same kids as 3-year-old preschool) helped quite a bit. She was able to make friends and play with others. It was great progress. That being said when she meets new people it is usually a debacle. She will often have inappropriate interactions. It can be anything from avoiding a person and not responding to them to more overt responses like making rude comments, being mean, becoming oddly obsessed with people, etc. We always say that Abby lacks her "social filter". That little voice inside your head that helps you figure out what to say and what not to say is missing in her brain.

This year she has had the opportunity to make friends in her new class. She is in a multiple disability kinderclass so the kids are less "challenging" for her. Her best friend is Tori. Tori uses a walker and is the first kid Abby has encountered who is slower than her. I think that is a draw for Abby. Being able to relate to her socially and not worry about keeping up with her physically is a game changer. She simply adores Tori. She talks about her non-stop and just loves her to pieces.

Unfortunately her adoration can be a little much. Because she lacks that social filter she can often go way over the top. Tori doing something an inane as choosing to play with someone else can be a personal affront to Abby's social sensibilities. This week when Tori chose to play at a different "center" than Abby, Abby called her a stupid friend and started to wail. I feel so blessed that her teachers know exactly how to handle her. But it still makes me sad.

We live in a social world full of social beings. Parenting a child who struggles with the most basic social situations (like meeting someone new) is hard. You spend half your time explaining her "odd" behavior to people who really don't want to even try to understand. I also fear for her later years. Being a teenager is awkward enough. Being a teenager with physical and social issues could be excruciating. We just choose to take it one day at a time. One social interaction at a time. Plus, we pray... A LOT. :D

Posted by Kristen Fescoe

Rhombencephalosynapsis goes to Disney World

As most of you know we just got home from a week long vacation in Disney World. The short version of the story is that we were supposed to go last Christmas but ten days before we left my Dad was diagnosed with Stage IV lymphoma and almost did not make it. Thankfully he is kicking cancers sorry butt and so we went. It was a perfect "victory lap" for our family.

We thought a lot in advance about what this experience would be like for Abby. Disney is obviously exhausting for any five year old but what about a five year old who tired from a walk around the block? How much would we have to slow down to accommodate her?

To try to deal with it in advance we rented a double jogging stroller from a local rental place (not the uncomfortable Disney ones). This would give her a way to ride from attraction to attraction while getting some rest. We made sure to pack plenty of snacks and drinks to keep her filled up with energy. We even resigned ourselves to letting her have some good old sugar when necessary. ;D This worked for about the first three hours.

We got into what would be our first long line and quickly realized this was not going to work well. Even though it wasn't that hot (about 75) we was drained after standing for half an hour. I started to panic at the thought of either holding all 32 pounds of her her through line after line (and killing my back) or having to sit out of rides with her. Neither one seemed like a good option.

I then remembered on the Disney site that they outlines the measures they go to in order to accommodate people with disabilities. Although we don't tend to think of her as "disabled" these are the times that her "differences" are glaring. I found a young woman working there and asked her about how we might be able to work around this problem. They were SO helpful.

She outlined what they like to do and she sent us to guest services immediately to get started. We informed them that we have someone in our group with a "disability" and we were given a "red card". This gives you access to the rides through the Fast Pass lines so you generally wait about ten minutes for a ride instead of an hour or more. They usually only write them for a group of 6 but we got one for our whole group. So at each line we flashed our card and walked right on.

For one short moment I felt a pang of guilt (not sure if that is the right word) about getting a "reward" for her disability but then I thought how much she deserved it. Should she have to miss out or be too exhausted to enjoy herself? NO!

There were still small matters like her food allergies and her balance winding through lines and the park itself. But since we took care of the larger issue of the standing we were in good shape.

Posted by Kristen Fescoe

An RS twin

When Abby was first diagnosed with Rhombencephalosynapsis the doctors made sure to inform us how incredibly rare it was. They explained that it happens at a certain gestational period but the specific cause is unknown. I have always thought the fact that Abby is a twin and her twin does not have RS is very interesting.

Life with twins is interesting. Life with one twin who is atypical and one who is more typical (although Grace her fair share of developmental issues unrelated to RS...) is even more interesting. We have to make sure we meet the needs of each girl since they are twins. We also have to make sure that the more "needy" twin doesn't get more than her fair share of attention. It has always been a balancing act.

The amazing thing is that Grace has turned into such a caring and nurturing child. She won't let anyone pick on her sister. She will make sure she is included, even though Abby is socially very awkward. She cares so deeply for her sister it amazes me to watch.

Recently we took the kids to the park that has a fair amount of accomodative play equipment. We love this park since the girls can both do their thing without us hovering. The girls were playing when Abby fell off of a climbing ladder. The floor is padded so it wasn't catastrophic but it still hurt. Grace immediately came running to Abby apologizing for "not remembering that Abby has terrible balance"... From the mouth of a five year old.

In that moment it felt so bittersweet. The sweet in that she cares SO MUCH for her sister. The bitter in that she felt responsible. Like if she had slowed down her play than Abby wouldn't have fallen. I don't believe for one second that Abby hold Grace back. They both move at their own pace. That doesn't mean Grace doesn't slow down sometimes to move at her sisters pace. I just can't help but wonder how this will effect them and their development later on. I think being twins makes them stronger. It helps them grow and learn and keep pace. They challenge each other in wonderful ways.

Some day Grace will be writing her own blog post on being an RS twin. Until that time I pray that she will tell us all how enriched her life is because of her sisters diagnosis.

Accommodations

When you raise a special needs child life is full of accommodations. We special needs parents spend a lot of our time trying to make sure our children have as "normal" a life as possible. This includes modifications that we make to our home and our environment to make life more livable for our children. Since Abby was very small we made modifications. Special strollers, lots of childproofing to deal with falls, helmets, etc. As she has gotten older and more mobile the modifications become more important.

We have done everything from installing care rails on our stairs

to buying hand towels with rings in the bathroom. (She gets very upset that she doesn't have the dexterity and balance to hang the towels up when she is done without help.)

We do things to accommodate her smaller stature like step stools EVERYWHERE and smaller toilet seats for her tiny bottom.

We bought her a special chair so she can reach at the table

(note her weighted vest that helps her stay organized during meals).

We have special devices so she can reach light switches.

We still have all of the baby proofing devices on our doors and furniture.

She has a heavy blanket in her bed to help her sleep, she has her helmet by the front door, we bought toy shelves that are low enough for her to reach, and so many more.

We feel that she has had to make SO MANY accommodations to fit into her world that it doesn't hurt for us to make some for her. In an ideal world I would love to make bigger accommodations to our house. I would lower the bathroom vanities. I would lower a kitchen counter. We would put all the light switches and door handles lower. Unfortunately that would all cost a fortune. So for now she lives in an environment that isn't built for her. Thankfully she is one flexible little girl.

Posted by Kristen Fescoe

People don't realize

Reading Heidi's post got me thinking. When parents raise small children they run into their fair share of issues when it comes to visiting new places. Kids tend to wander. More falls tend to happen. They can get off schedule.

When you raise a child with RS you have the typical problems PLUS a whole set of other issues. Next week our family leaves for our annual trip to the beach. I have to make sure I am prepared for the usual issues with sun and sand and the ocean. We pack our sunscreen and our puddle jumpers (life preservers) and our toys. But what people don't realize that for a child like Abby (or Ethan) we have to think way beyond that.

A normal kid can bound through the sand by about age two or three. At age five Abby still struggles. By three Grace no longer needed a stroller to navigate the boardwalk but at five Abby still needs hers after a few blocks. The shift in her sleeping schedule means that her sensory system will be good and turned upside down by the second day.

It's not that we don't have fun because we TOTALLY do but there is so much planning ahead. We know that there will be more falls than normal. We know that she will be more frustrated than normal. And we know that in order for all of the family to enjoy our vacation we have to work twice as hard as we would if we had kids with no special needs.

I am just not sure that people realize that even on vacation, or our lazy days at the beach or a simple trip to the mall that so much goes into parenting a child with special needs. Most of us RS parents pray that we make it *SEEM* effortless (;D) but trust me, it isn't.

Off the map

I will be going off the proverbial grid for a little while. Baby is set to be here on Monday (scheduled C-section) so I am not sure how much I will be updating this blog for a bit. Anyone who wants to follow can check my other blog for baby updates.

Life with Coco and Gigi

Social Worker

One of the benefits to being part of the Early Intervention system was that Abby was entitled to a social worker. At first we quickly rejected the idea of having a social worker working on her case. We are a good, stable family with enough money so why would WE need a social worker? It wasn't until the list of equipment we needed (and insurance wouldn't cover) grew did we okay a meeting. It was a very smart decision.

We met with our social worker and she was lovely from the start! She talked to us about different programs we could participate in. She went through things like getting a handicapped placard for our van to finding an organization who would help pay for Abby's walker. So even though we didn't qualify for social security or anything like that having social worker was still a HUGE benefit. She taught us a ton about the system.

I say this because I am sure there are plenty of parents who have kids like Abby that would say No to a meeting... just like we did. I urge you to think twice about that. Listen to what they have to say. They are an amazing resource and support system.

Those sad moments

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.

Bring in the perinatologist

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.

Been a while

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!

MIA

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!