Wednesday, February 16, 2011


Today was our (semi-dreaded) annual neurogenetics appointment. I was very nervous because I wasn't sure what the appointment would yield, what other appointments it would lead to and if we would click well with the new doc. First things first the doctor was awesome! He was good with Abby and she responded well to him. You could tell that the child that he read about was not the child he saw in front of him. He was blown away by how awesome she is doing! YAY!!

Here is the rundown of what we discussed:

- The OT at CHOP doesn't feel that brushing is for Abby. Not sure what we are going to do with that info but it was interesting. She felt that things like brushing are purely passive and more active types of strategies (heavy work, wheel barrel walking, etc.) are better for a younger child.

- The PT is pleased with how school is handling her PT. We have some concerns but she reassured us.

- Abby is going to start taking Melatonin (a three month course) to try to help with the sleep issues.

- Our wonderful genetic counselor is going to slide Abby into one of the neurogenetics slots with the developmental pediatrician so instead of 9 months it should take 2!

- Abby is FINALLY on the growth chart. She's tiny but she's on it. :D

- The Ataxia has improved a great deal. Her balance and gait are good for where they expected her to be.

- Very interestingly, while we thought she only had hypoplasia (thinning) in the back portion of her corpus callosum she actually has partial agenesis.


- All in all she is a neurogenetics rock star. Based on what her MRI's look like she should not walk or talk or think or be cunning and smart alicky. :D She is so far above what she "should" be doing it is amazing!!

The weird part is that despite all the wonderfulness that was this appointment it is still a little frustrating. We hear A LOT about how she is doing "compared with what she *should* be doing". I feel like in the midst of that some of what she *could* be doing gets lost. It's hard to explain but it is almost as if I should be thankful that she can walk and talk and I need to "relax" on some of the peripheral stuff. As her Mom it is MY JOB to NOT let the peripheral stuff go. If I do than it will slip through the cracks.

I do want to end on the bright side though. She is amazing. She is a complete and utter miracle. You look at how mushed and squished and malformed her little brain is and then you look at this wise-cracking, humorous person and it is astonishing. She is astonishing.


  1. Such great news!! Glad it turned out better than expected, your Abby is
    quite amazing!!!

  2. Thanks Danielle! I think she is too. :D

  3. Glad it went well! We do melatonin too (along with some heavy hitter sleep meds) - the liquid melatonin you can buy at health food stores is so much better than crushing pills. (We are on 3mg so far). I hope it helps - I can empathize with sleep issues. Keep it up - you're doing great! Sometimes doctors forget to look at the child in front of them and work on that, not what is in the papers! Focus on the "could!"

  4. F - That is what we definitely have to do... think about the "could" and ignore the "should". :D

  5. I'm so glad your visit went well! I was thinking of you guys over the weekend. :) She's amazing, and so are you!!

  6. Sorry for the anonymous post my computer was not cooperating with a user ID. my name is Jennifer. Who Did you see at CHOP? We live in the suburban Philadelphia area and are looking for a Dr that has treated a paient with RS. My son is newly diagnosed and his neurologist has not treated any other patients with this.