Swedish Study

lali

Laelia trying to put some weight through her knees while looking at the Seattle rain.

People have asked me what exactly a diagnosis of amyoplasia means. In brief (see I’m capable of brief!!!) amyoplasia (a=no, myo=muscle, plasia=growth) means that Lali has weak muscles. In fact a few of her muscles are so weak they are completely unusable. Amyoplasia is a type of arthrogryposis (joint deformities).

90% of amyoplasia cases can still get around with some help, but 10% are not ambulatory. Ambulation is the ability to walk or stand or get around under your own power. 100% of the doctors we’ve seen tell me that Laelia is most likely (or almost certainly) one of those 10%. I was hoping Seattle doctors would give me different news, but they only confirmed what we’re seeing–that she doesn’t have enough muscle.

Amyoplasia also means there is nothing in our gene pool that caused this and therefore I can have more kids and they won’t have amyoplasia. (By the way, that’s called having kids who are “unaffected,”   NOT having kids who are “normal.”) We found out in Seattle that no accident (vascular or otherwise) caused this either. So nothing I did caused this:   not sleeping wrong or forgetting to take vitamins or driving over bumpy roads or any other deed I can think of.

Thankfully we already were diagnosed with amyoplasia the day after Lali was born, and this recent diagnosis was just for clarification. The only thing we didn’t know when she was diagnosed the first time was how severe this was.

Kiersten shared this study with me which summed up nicely what I’ve been learning about my Laelia’s condition and future with her severe, non-ambulatory amyoplasia.   This is all directly copied and pasted so I hope I don’t get in trouble. :)

(Words in parenthesis are my own thoughts/additions.)

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1. Community ambulators walk with aids in the community and do not need a wheelchair;
2. Household ambulators walk with aids in the household and use a wheel chair in the community;
3. Non-functional ambulators use parallel bars or walkers with support; (what I hoped we’d be able to do, but she is missing arm strength)
4. Non-ambulators do not walk. (what we’re looking at)

In amyoplasia, community ambulators had the best muscle strength, household ambulators had severe contractures in legs but good muscle strength in arms, and non-ambulators had the most severe contractures and muscle weakness (we found out Lali was in the group  at the clinic).

Patients who turned out to be non-ambulators or household ambulators had a larger number of joints involved at birth compared to community ambulators . (Yep.) The combination of lower limb joint contractures and severe muscle weakness is negative for ambulation development.

In non-ambulators, the typical joint positions at birth in lower extremities were flexion, abduction, and external rotation in the hips with knee flexion contractures. (That’s EXACTLY what Lali had/has. You can kinda notice in the picture above.) The most important finding in our study was that muscle strength is more important than joint contractures in the development of motor function.

Early intensive treatment–stretching and splinting–has been found to be especially important in amyoplasia. (Yay! We did something right!) Casting, especially during the first three or four months, should be minimized. (Didn’t know that.) In planning surgery, it is essential to carefully assess muscle bulk and muscle function to make sure the planned intervention does not impair future motor abilities. (Which is why they don’t want to do surgery.)

We conclude that more attention should be paid to development of muscle strength with early stimulation of active movements. (I wish we had been told this very clearly when she was little, and helped with exercises!!! Accc!)

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We’re changing up Laelia’s routines and putting greater emphasis on weight bearing and exercise. No more helping her do things we know she can do, and no more getting things for her even if they’re across the room. I’m hoping this helps. Now it’s a matter of waiting for technology to catch up to us. She has function in her hands, so she needs something to lift her arms up for her. Maybe something attached to her back like a back pack with arm supports? And if you push a button it raises your arms? Is there an engineer in the building? :)

I think having a weekend to absorb the Seattle information helped. We’re dealing. I’m so used to fighting this arthrogryposis beast that I don’t like doing nothing.   No casting, it could atrophy her muscles.   No surgery, it could weaken her muscles.   No muscles, it could let her do stuff. :-/

I’m really sad about her lack of ambulation and her apparent dire prognosis for the future. I don’t know if I should accept this or hold out hope. The later is depressing me more. Maybe if I just accept that things won’t get much better then if something does change I’ll be pleasantly surprised. But at the same time, not having any hope is distressing. So what’s left is just going forward and living life… living life in the scary “we don’t have a plan” way that I dislike so much. :)

I also feel like I’m failing the strong mommy test this week. Mostly I do great at accepting what life brings and celebrating my adorable kiddo. It’s just hard when hope is raised and then taken away.   There’s always next week. Plus Lali doesn’t seem to notice at all. :)

3 Responses to “Swedish Study”

  1. Tam says:

    i tell people my kids dont know they have special needs so please dont tell them! I understand your struggle. I struggle too. WIll Sophie walk?? will she live with us forever because she cant even transfer? do we push for walking or move towards functioning the way she is? I usually lean towards walking as we have not done much for her yet in that dept. still trying to find doctors with a clue. but if she never walks it will be ok. I just need to know that I did everythng I could. so often your posts parallel my feelings. Sophie is my beautiful happy loving friendly girl. if she never walks she will still be all that and a bag of chips to me.

  2. Tracey S says:

    Hey Alexis

    Have you ever heard of WREX? It stands for Wilmington Robtic Exoskeleton. It was invented by AI DuPont Hospital in Wilmington DE. Its a body brace or an attachment to a wheelchair that helps w/ self feeding in kids w/o active elbow flexion. http://jaecoorthopedic.com/products/categories/Mobile-Arm-Supports/WREX-%252d-Wilmington-Robotic-EXoskeleton/

    I’ve seen kids w/ AMC use it very successfully. I don’t know for sure but I think its exclusively made at DuPont. Its a really really cool device! I’d go get one but I’ve had a successful muscle transfer & don’t really need active flexion bilaterally.

    I hope you don’t mind me asking, but why is Dr. Song recommending waiting another year to address anything w/ her lowers? The institution I go to almost always rotates the legs forward (leaving the hips externally rotated) & depending on the kiddo addresses the knee contractures so the kids can get standing in braces as early as possible no matter how much muscles they have or don’t have.

  3. Nicole says:

    I have a 5 month old daughter diagnosed with amyoplasia at birth. I am interested in knowing what doctors/hospitals you bring your daughter to…. we were transferred to University of Chicago. Katie has had multiple casts on her feet and legs and rigid splints on upper extremities. We are thinking of another opinion- not as to diagnosis, but plans for future treatment. Your help would be sooo appreciated!

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