This Wednesday we have our long awaited appointment with the neurogeneticist at CHOP. I have met him once and he is the one who diagnosed Abby with RS. He is a very nice man and considered one of the best (if not the best) pediatric neurogenetics docs in the country. Problem with that is it takes 6 months to get an appointment with him. I was slightly irritated when last week his secretary called to cancel the appointment we have had for almost 6 months and set it up for a terrible time (right in the middle of naps) this week. The next appointment was at the end of March so I am sort of stuck with it.
Anyway, this is one of the most important docs that we see for Abby. Most of her other docs tend to "pass the buck" to her neuro so pretty much any important questions that need answering we ask Dr. Bonnemann or one of the genetic counselors that we also see. Over the course of the past few months we have been busily compiling our list of questions in hopes that we can get most of them answered. With a diagnosis so rare you get a lot of "wait and see" kind of answers which suck.
The list we have compiled covers things like what to expect from her Ataxia, why she lacks protective reflexes, does she have Gomez-Lopez-Hernandez Syndrome, will the dysmetria get any better, will she ever grow, why is her metabolic and endocrine system not working properly, and a whole host of others. We just go into this praying that they won't be rushed through, that they have some answers and that lack of nap doesn't mean I am shouting over Abby crying through the appointment.
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6 comments:
It sounds like this appointment will answer a lot of questions for you! I hope it gives you some relief. The mid-nap time sucks though. Maybe it's time to pull out the big guns: lollipops or soda (in a sippy cup so the doctor doesn't see!) or crazy candy that you swore you would never let your kids eat! Laptop with DVD. Cell phones. Whatever it takes to keep her happy! Good luck.
I'm praying that you get all your questions answered. My daughter(23) has pseudotumor cerebri and I know the frustration of needing answers from the neuro.
Great idea with the lollis and soda. I might resort to all of it. :D Thank God for movies on i pods. :D
Man. I hope it goes well. Please let us know. Thinking of you guys.
Thinking of you. I hope it went well and the Dr took the time to answer all of your questions.
Aleigh
I am sure you are way ahead of me on this one, but is it possible to bring your husband or mom or someone that can take Abby to the waiting room or somewhere close by when her part of the appt. is done. That way you can have the time to talk to the doc. without any disractions.
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