RS Oddities

One of the things I have found most peculiar about RS are the tiny little oddities. Not the balance problems or brain malformations but the smaller things people might not even notice. Things like the fact that her baby toes are oddly shaped. Her hair and nails are very thin. Her tooth enamel is weak. Her sternum is shaped oddly. She has bald patches (alopecia) on both sides of her head. She cannot regulate her body temperature well. Her resting body temp is very high (99.2 on average). She metabolizes food faster than anyone I have ever met. She experiences pain in the strangest ways.

It fascinates me. Some of her doctors are equally fascinated while others are driven crazy when I ask for the hundredth time whether some of those things are RS related or Abby related. I guess it's all part of her mystery.

This week she came to me in tears complaining of severe burning pain in her face. She was BESIDE herself and scaring me half to death. I went for ice and Brian gave her Tylenol. When she chomped down on the tylenol she told Brian it hurt. Turns out the burning pain was from a molar coming in. And just like that... no more pain. It was almost as if as soon as her body could process the pain the experience of the pain was gone.

She is a riddle that one. :D

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

Head Rolling

Abby has a fair amount of tics and involuntary movements. She flaps and spins and rolls her head. She has facial tics and other sporadic movements. Most of the people around her don't even notice she does it since we are all very used to it. Any time she starts something new (like a new year of school) we are reminded that, although it's normal to us, it is not typical to have these movements.

For the most part it doesn't bother her. She rarely complains. Every once in a while I look at her as she rolls and rolls and rolls her head when she tried to watch tv or look at a book it makes me sad. It must be so hard to not be able to sit still when you want to. She has some strategies to help (like folding her hands or sitting in certain positions) but they only minimize it. She can't stop it completely.

We were recently sitting watching tv and I had a free minute to tape her watching tv. This was a very mild case of rolling since it was during the day. By nighttime she can barely watch tv.

More allergies

Last week I took Abby for her skin testing to confirm what caused the bad reaction a few weeks back. We know that she was exposed to raw cashews, walnuts and agave. I was suspicious of the tree nuts but the doc wanted to confirm. Thankfully the little chickie is pretty tough when it comes to these things. She knew she was getting skin tested but there was hardly a whisper of dissent about going. 

She got a little ornry when the nurse and doc came in but she wasn't too bad. We talked a little about how things have been going and he confirmed that her last round of blood work was too high for eggs and milk to bother testing for those yet. He ran the tests for four tree nuts and it was obvious she was positive for a couple.

He came back in and let us know that she is severely allergic to cashews and moderately allergic to walnuts (according to the skin tests). He will test for more tree nuts in six months but he doesn't like to test more than 4 for fear of a false positive. As of right now the only tree nuts she can have are hazelnuts and pecans.

She did, however, get an Ariel sticker out of the deal so she could have cared less that she can't have tree nuts. :D Good thing the kid is so resilient! 

MIA again

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...

The Sensory Side of Rhombencephalosynapsis

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!

Strabismus

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.

Leg Cramps

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.

Little Gains

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

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

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.

Appointment

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

Nerves

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.

Two "new" issues

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

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.

Melatonin... the wonder drug

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.

No weight gain

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

Brushing - Day 1

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!

In the same vain...

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.

Update two for the week

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!