We got some good news last week: Allison does not have a genetic disorder. While we are extremely grateful for this, it almost seems that we are at square one as far as a diagnosis goes. We do have one test pending through the University of Michigan Metabolics/Genetics Department. This is a repeated, more intensive test for Congenital Disorders of Glycoslyation (CDG) which she was cleared of about a year ago. Although we are anxious for “the big picture,” we are not all too excited about this being the one. Besides this and a pending retesting of her muscle tissue taken a year ago, there are no tests being recommended. It seems like we have come to a standstill. . .
I took Allison to Ann Arbor on Friday for a second opinion with the Peds GI doc. He basically said there is nothing else we can do for her until we figure out that “big picture” diagnosis. He checked all of her doses of medications to make sure they were appropriate (which they were) and recommended getting her into an intensive feeding clinic. The doctor hopes that Allison would be able to switch back to the G-tube and eat orally, and maybe one day take the tube out completely. He did comment on her size, saying something like, “Allison is obviously absorbing the nutrients that she is given.” Which I took to mean “she is a big fatty.” She is overweight now (I know, the irony) which can put stress on her laryngomalicia and cause more apnea episodes. I have called the dietician with Allison’s height and weight, and we are waiting for her to call back with an adjusted diet. I’m guessing a reduction in calories per ounce is imminent.
Although discouraging at times, Allison still makes progress physically and orally. She is now in therapy four times a week – and it shows! Between therapy and the botox injections she is getting closer and closer to sitting unassisted and holding a “hands and knees” position. Her therapists are able to get inside her mouth to continue desensitizing her orally, and we have been working on sips of milk/juice from a cup, as well as giving her “taste tests” of everything we eat.
We haven’t heard about the custom stroller yet, other than the doctor signed the prescription and it has been sent on to the insurance company for approval. Having this approved would be a wonderful Christmas present.
I had a great birthday (actually went shopping alone!) and we are headed to Ford Field this weekend to watch the Lions beat the Vikings.
Until next time. . .
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