I know that seems like an oxymoron because I went searching for a more definitive diagnosis. But I didn't go searching because I needed to validate anything. But I just wanted to have more information.
But to the juicy parts.
Dr. Hall believes Anabelle is in the Amyoplasia spectrum. And on the severe side of Amyoplasia. She cannot say definitively, but believes this is correct due to the Gastroschisis along with the AMC. I'm getting ahead of myself.
The reasons she cannot say it's Amyoplasia 100%:
- Kids are typically presented with their arms stuck straight and legs bent, kind of like a pretzel.
- Anabelle is opposite of this. Even though no two people are effected exactly the same way, Anabelle is pretty far from the typical Amyoplasia kid.
- Anabelle has these long dimples on her forearms and legs. Dimples in AMC are areas that didn't move much at all in utero, causing little to no muscle (and other things) to develop, so the skin basically stays to the bone, making a dimple. Ana has them on her shoulders, elbows, wrists.. All typical places. But Dr. Hall has never seen the ones on the forearms and legs quite as large as Anabelle's. Also, she was puzzled because she has seen kids with dimples on the legs, but shorter ones, and when they do have them, it was caused by the placement of the foot/feet. Meaning the toes were facing up towards the shin. Ana also does not fit that category as her feet were turned out.
Back to why she thinks Amyoplasia in relations to Gastroschisis. She explained that in every big study anyone's done in Gastroschisis that 3-4% of the participants have Arthrogryposis, and of those with AMC, all are Amyoplasia.
She also thinks it was all caused in relations with the vascular system. I can't remember exactly what she was meaning (I know, totally dumb of me), so I will be emailing her shortly for a refresher.
But she cannot say exactly what caused any of it. The AMC or Gastroschisis. But she did say she is running a study of AMC and Gastroschisis/bowel adhesions soon, and will be looking for similarities.
She also said if she finds anyone else with long dimples like Ana that she will be in touch with us. There is another genetic test they can run, more fine tooth then the two we have already ran.
She did say that she recommends us returning to our local geneticists when Anabelle is about 16-18 years.
AND. She said that of course she cannot guarantee anything.. however, in her observations, kids with good hip movement can walk. Anabelle has GREAT hip movement. I know that she isn't so amazing she has a crystal ball or anything... But Ana's uppers (hands/arms) don't function too great, (though she is making great strides!!) so if she can have walking in her pocket, I won't say no to it. No matter what happens she'll be fine, it'd just be nice to have the benefits of lowers.
We also got the chance to meet other AMC families. It was really fun. There was an adorable 3 year old little boy. At first, very shy, but then he started joking around with me. Just made me miss Amelia and Allison all that more. I'm not sure how we're going to make it in March for a week when we go to Philadelphia.
Side note: She is interested in food! We have been giving her little taste of it, and now when she sees food she yells at us if we don't give her tastes. By little tastes, I mean we dap our fingers in what we are eating and put it on her tongue. I cannot wait for the bronchoscope to be done with so we can hopefully start feeding her orally. Although, I don't think that will happen anytime soon. When we give her tastes, she is still swallowing the way she was when she was orally eating. Imagine eating air. That's the closest I can come to to describe what it sounds like. As if she is eating and breathing at once.
Side note #2: So far this month, besides therapy, she has a total of 2 out of the home appointments. TWO! Last summer it was 20. Just shows how much she has improved in the health department.
Promise, pictures in the next post. :D
With love,
The Polk's
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