Let's Talk OT

Written by Heidi:

From the time Ethan was 3 months old I asked and asked and asked his neurologist for an OT referral. His first sign that OT might be necessary where his fists. He clenched them .... ALL the time. Even during sleep.  I believe that the doctors were so thrilled that his cerebellum was growing to the right size (it hadn't been before 3 months old on ultrasound).  At this point we hadn't had an MRI yet, so we were unaware of his RS. Because of the "normal size" they just wanted to throw him into the "normal" category.  By 6 months it was becoming obvious this wasn't going to happen.

So finally, at 8 months we had our initial evaluation. And so it began. Therapy became our life. Everywhere I looked I saw therapy. Play became therapy. Diaper changes became therapy. We brushed him, yes I said brushed, from head to toe with those infant hairbrush they give you at the hospital. This was to stimulate his neurons. We wanted to get them going and activated (we were told this should happen before age 2). We had bean boxes, ( I believe every kid needs one....what fun!), we had putty to hide buttons and coins...great travel therapy!

And so our days of therapy continue. OT has been loads of fun with Therapeutic Listening, seek and find puzzles, a push pin letter thing I made up and so on. But it has paid off! His writing is so close to his peers.  All this being said tying his shoes is a constant battle...but that is every kid...right!!??

Hi Mrs. Fescoe, It's Abby's teacher...

Not exactly the voicemail I wanted to receive on a rainy Monday afternoon...

I came back in the house, drenched, and noticed that I had a voicemail. I put it off a few minutes since Abby came home wild, saying she "accidentally cried" at school and her face was blotchy, red and puffy. I didn't get much info out of her so I decided to give her a half an hour to rest and then revisit what had happened.

That's when I picked up the voicemail. I heard "Hi Mrs. Fescoe, it's Mrs. F.... Abby's teacher. I wanted to talk to you about a couple of things. {GULP} First there are a few birthdays coming up and I wanted to give you dates to send in vegan snacks for her {SIGH OF RELIEF}. Second, I wanted to see how her doctors appointments went {SECOND SIGH}. And I also wanted to talk to you about some behavior we are seeing. {SHIT!}

She did some brief explaining but I hung up the voicemail, called her back and prayed I would catch her before she left. I didn't see myself sleeping well if it had to wait until tomorrow. I lucked out and did catch her.

We went through the pleasantries, the party dates, the doctors visits... then got down to business. It seems my previously "model student" has escalated significantly. Meltdowns, temper, screaming, throwing things, obsessing over people and things, perseverating, singing inappropriately, being loud... you name it. I wish I could say I was surprised but we have been here before. In preschool we had to meet with the behaviorist and her OT to completely revamp Abby's behaviors and sensory plan because she was so out of control. Seems we are back to square one.

It's just so frustrating sometimes. I am not naive. I know that raising a child who is "different" will always be chock full of issues. It's because the "issues" have a tendency to ebb and flow that we become the most frustrated. There are times when things are good; her balance seems better, we have no significant falls, her behavior is great, etc. In those moments we *almost* forget that she has lifelong "issues". Because of that we sometimes feel blindsided when it falls apart.

I am not sure how, after almost six years of dealing with these ebbs and flows, we can still manage to be blindsided. Maybe it's my eternal optimism? Maybe it's self preservation? Maybe it's stupidity? I'm not sure but it sure as hell is hard!

So now we will be revamping her sensory/OT plan and it looks like the behavioral specialist will be called in. I am guessing her developmental pediatrician will want to get in on the planning and I am sure there will be another push for meds. Not sure what the outcome will be but I realize we're lucky to already have a team in place.


Posted by Kristen Fescoe

What to expect when your expecting....

Written by Heidi:

"I know Kris has written in the past about their experience during their pregnancy. Within the support group on Facebook it feels that we all share such a similar story of our RS pregnancies and mine is no different than Kris's. As I first read hers I thought "did someone steal my story"! As we were going thru it we felt so alone! We were told by numerous and highly educated doctors that basically we were alone. There was essentially no literature to educate ourselves with. The one doctor who we thought would give us answers from handed us our son back and  told us he had never heard of it and if anyone told us they did they were lying to us. This was when Ethan was just 1 1/2 years old.

But let me back up: at our 5 month prenatal check up we took our 6 year old soon-to-be-big-brother with us to find out if he was going to have a little brother or sister. Little did we know we would be leaving with heart breaking news that his little brother had cerebellum issues, along with spina bifda occulta enlarged ventricles  and we were introduced to large words that would become a second language to us. The next weeks were a blur of appointments with specialists that knew nothing, had little advice with answers of 'we don't know' and 'we suggest that you terminate'. We felt like they were suggesting this because they didn't want to be held accountable for the unknown. We scheduled the next appointment and moved on trusting that God gave us this baby for a reason and we would do what we needed to do.

The next scheduled ultrasound left the specialist yet again scratching their heads as Ethan's ventricles had decreased slightly as they told us this doesn't happen. The pregnancy and his birth continued on this trek with highs and lows and lots of scratching of heads.

I got to thinking about this as I was messaging another new RS mom the other night. She was with her new baby and they are going through another major procedure so soon after being born. It seems that nothing goes easy for these RS kids. But somehow they trek thru it. How alone and isolated we parents can feel and have felt during it as the medical staff hasn't been able to offer much in this in the past. But I believe that won't be the case in the future. If I could of had another mom message me who truly went thru some of the same rare things that I did back then. Wow!. I can remember when I first read Kris's words. I got goose bumps! Finally I had a connection with someone! There was a family out there that got it! And thru face book I  have found many families that get it!

So if you are expecting and you have found this blog because you and your little one have been given the news with some pretty big words....and all those pregnancy books are now out the door come find us facebook. You can message me Heidi Swartz (Larson)"

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! 

Sleep!

I am sure I have posted about this in the past but this seems to be such a recurrent issue for parents of RS kids. The complete and utter lack of sleep. When our RS babies are born we watch our friends children hit 6 or 9 weeks and miraculously start sleeping better and better. Meanwhile our babies still sleep like newborns. Even as we close in on 6 months many of our kids STILL don't sleep.

I am the mother of an almost five year old child with RS and it is only in the last six months or so that we consistently sleep through the nights (well, not me since I have a newborn but you know what I mean ;D). Until then Abby would wake frequently in the night. Sometimes she would ask for something, water or to be tucked back in. Other times she would just be wide awake and want to chat. Other, less fortunate times, she would be suffering from leg, foot or hand cramps that caused her extreme pain. But almost every night she would be up a couple of time for some reason or another.

We have instituted a nighttime sensory diet, quite time before bed, a rigid routine, white noise machine and fan in her room, several night lights... it felt like we tried everything.

We finally broke down and begged the neuro to give us some ideas, thoughts, panacea's, ANYTHING so we could sleep. He first suggested a sleep study to rule our apnea or other disorders but I wanted to avoid that. Because sleep issues are so common in RS (and neuro issues in general) I was pretty confident that wasn't the case. So had us try melatonin at night (up to 9mg chewable) and she can have another 3mg chewable if she wakes in the night. That in combination with the other things (fan, noise, heavy blanket, night lights, etc) started to work.

The change was by no means instant. It took about six months of this routine to get her sleeping fairly well. Even still she wakes sometimes and I still have to keep a baby monitor in her room. That being said it is a VAST improvement over being up every few hours!

You definitely miss your sleep when you haven't gotten any for four years. :D

Therapy

A post from Heidi:

Over the last 6 years we have had therapists come and go in our "therapy" lives. As therapy seems to govern so much of our life it has become somewhat of adjustment for me to say goodbye. It seems impossible to avoid becoming emotionally attached to the people that seem to make such an impact on Ethan. They know more about what is going on with him on a day-to-day basis than any of his doctors. They invest so much time into giving him the tools, skills and the strength he needs to continue to develop, so he can continue to just be a kid. You have to understand that for parents of a “typical” kid they can never understand how much works goes into being a “normal” kid when you have RS. Running, playing and throwing a ball are mundane for most kids. When you have RS these skills can take years to acquire.

Now that being said, we have had a couple of therapists that I have not been thrilled with for whatever reasons. I learned very early on that these are the times to request a change. This only seemed to happen when Ethan was receiving services through Early Intervention and the therapist was coming into our home. One therapist would always be late and then want to leave early. Another was just a bad fit personality wise. Both times I requested a change and never regretted it.

This week was an especially sad week for Ethan and I as we had to say goodbye to his beloved physical therapist, Ms. Rebecca. She has been working with him for almost 3 years. Unfortunately her husband's duty station is being transferred she must leave. I have to say she has worked him hard! She pushed him when he needed to be pushed and stood her ground when he through some pretty tough fits. They formed a terrific team over the years! She has to personally design a PT program to meet his needs since there isn't one for a RS kid. He is definitely better off because of this! I feel fortunate that she will continue to stay in our life through face book.

May the new PT have the same inspirations and stamina!

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.

Eye Surgery

No, not another one. I am talking about the one Abby had years ago. A fellow RS parent is about to have their child undergo the surgery Abby had when she was just 10 months old. I thought I would share our experience so hopefully parents who will have this experience might benefit.

When Abby was born her eyes were fine. They were straight and she could fix on a target without any problem. Within a few months we started to notice her eyes turning inward. We left her alone for a few months because our pediatrician told us that some cases of esotropic strabismus (what Abby had) can self-correct. After a few months we finally found a specialist (at CHOP) that would see her. He assessed her, looked into her condition and quickly arrived at the decision that (he felt) surgery was her best option. He went over other options with us like patching, drops and glasses but he felt surgery would be best.

We gave it some thought but decided that we had to rely on the expertise of the heads of opthalmology and neuro-ophthalmology at CHOP. She was put into glasses at about 8 months and was scheduled for surgery.

Without her glasses: 

With her glasses: 

We were prepped for how her surgery would go fairly well. They would cut the muscled behind her eyes, basically tie them tight and her eyes would appear straight. We talked about the anesthesia and other details of surgery but I felt pretty unprepared for that part.

The night before surgery:




They took her from us and sent us to the waiting room. We have been separated for other scans and things but this one was hard. We tried to be tough but it was not easy. The surgery took about an hour and a half from start to finish. When they brought us back to see her I was so surprised by what I found. Her eyes were SO swollen (which I didn't expect) and she was so puffy from all of the fluids they gave her. She felt super hot (which scared the hell out of me) but they assured me this was normal.

I figured she would wake right up but she didn't. It took a LONG time. She still looked pretty out of it when they came in to announce they were sending us home. WHAT? She was half asleep, barely drinking, puffy and swollen and sore and they were sending us on our way. I wanted to cry. I felt like they needed to keep her longer to make sure she was okay. I am usually very together and not a panicker but I was downright panicked.

Heading Home:



We got her home and she laid in bed with me for a few hours. She wimpered and whined in her sleep and it broke my heart. They told me she would be in minimal pain but the anesthesia would be tough to fight off. I think that was the case. It just sucked not being able to do anything for her.

When we got home:





By about 7 o'clock that night she was awake and hungry. My parents brought her water ice (which she LOVES) and she gobbled it up.



She slept fairly well that night and by the next morning I was shocked how amazing she looked. The swelling was down. She was alert and hungry. She looked like herself!

The next morning:







A few days after surgery:



A few weeks after surgery:

Our Appointment

Yesterdays appointment with neurogenetics went fairly well. We started off rocky when the #@$&*@ pediatricians office didn't send the referral. Being that it takes month just to get a follow up appointment there I was LIVID.

We started with OT and they were a little surprised that she is still so hypotonic. They figured with all of her therapy and strength work she would have better muscle tone this year. They were comparing her to a cooked noodle. They also noted how incredibly flexible her joints are. It doesn't sound like a bad thing but there is such a thing as too flexible. They are referring us to outpatient OT for her feeding issues. We'll probably do that over the summer.

The PT was very pleased with where she is in her gross motor development. She continues to make strides in her running, jumping, strength, etc so that part went well. They didn't want to write a script for braces for this year which was awesome. They are insisting on specific types of shoes to help with the ankle rolling.

Genetics did their part and they noted the hypotonia, lack of overall growth, nystagmus and other occular issues and the behavioral/compulsive/impulsivity part. They were concerned with the stark changes in her overall behavior. She went from being VERY passive as a baby to very hyperactive/impulsive and compulsive as a pre-schooler. The doc did say that because of her midline issues he was not surprised.

Neuro did their part last and noticed all of the same things. He is the "big wig" so he has final say over things. He reviewed where she is and these were the highlights and plans of action:

- Growth - They had hoped to see her growing a little better. Last check she was on par for 5' tall but it is not looking that way any more. She has not gained any weight in about 6 months now so they are concerned. They started the conversation about growth hormones which we are not really in favor of. It isn't something we would do anytime soon so we'll see on that.

- Behavior/Impulsivity/Compulsions - The doc asked how we felt about medicating her and we said that we were adamant that she NOT be medicated this young. We know it might be in her future but not now.

- Hypotonia - Because she gets a fair amount of OT and PT services at school we are doing pretty much everything that can be done in this area. The reality is that her tone is low and will always be low. It is something she will learn to accommodate for as she gets older.

- Eye Issues - Although she had the double eye muscle surgery her eyes still have some weakness. This is NOT something that could be (or could have been) fixed with surgery. There are eye muscle exercises as well as visual therapy that could help her. The problem is that when you combine the head rolling and the visual issues it can create a problem.

All in all I was pleased with the appointment. We got some questions answered and added a few more to the list. We will go back in a year and reevaluate these issues then. So for now we kep doing what we're doing.

Neurogenetics

It's time for the annual dog and pony show. Each year we take Abby to the neurogenetics clinic where she sees a PT, OT, Speech therapist, social worker, neurologist, several student docs, the neurogeneticist and any other doctor who wants to check our a rare diagnosis like rhombencephalosynapsis. The first year we took her the appointment took about 8 hours. IT. WAS. AWFUL. She cried, I cried. I almost walked out. It was fruitful but horrible.

Last year was a little better. I was prepared for a long visit and brought everything but the kitchen sink. It took more like 3 to 4 hours. This year she is older and (sometimes) easier to occupy. I am hoping that it will be a shorter visit.

What bothers me is why the dog and pony show? We know her diagnosis, she gets services, she's doctored beyond what she should. Why are we submitting her to more crap? The answer, for us, is that we don't want to overlook anything. Each year they shed a little light on something we never thought of. They are also a good resource for answering all of the "stupid" questions that no other doctor wants to touch. Why is her hair so thin? Why does she get leg cramps all the time? Why can't she sleep well? And so on.

So this week is our annual visit. Hopefully she cooperate and hopefully it's fruitful. We'll see...

Early PT

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.

Some regressions

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!

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...

No glasses

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!

"Big" appointments

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.

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.

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

Pulmonologist

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.

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.

Developmental Pediatrics

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.