Thursday, November 03, 2005

Madison and the Neurologist

Ok, here are the facts:

  • Madison does not have anything life threatening.

  • Neurologists (or at least this one) know very little about albinism and in fact seem to believe some of the same myths the public believes, although we don't blame him since it's not his area.

  • Madison is 25th percentile in length, but she has dropped off the bottom of the chart in weight and head circumference.

  • Madison still has a newborn reflex that she should have had to overcome before she could roll over, but somehow she's able to roll over anyway.

  • The neurologist didn't do the EEG because he said there was no indication that she was having seizures.

  • We have been referred to a genetecist so that chromosome studies can be done on Madison to determine if there is any other explanation for her developmental delays besides just plain low vision (whether or not it's due to albinism).

We're rather nervous, because we went in to see the neurologist thinking that we were just going through getting an EEG as a formality, but instead we ended up with all of these other possible issues and now we're having to go see a very rare kind of specialist to look into all of these rather rare neurological disorders.

We don't want to just disregard what the neurologist is saying, but we feel like we're chasing a red herring at this point. We'll go see the geneticist. It takes 3-4 weeks to get results, and right now we're not going to get in to see him until 12/1. We've emailed to see if there's some way to get to see him earlier, but we don't know yet.

While that is going on, we're going to go see a GI specialist to see if he can explain her lack of weight gain and her fussy eating habits. Also, we're going to find another pediatric opthamologist that is an expert on albinism so that we can get a second opinion. If he also diagnoses her with albinism, we should be able to get more information from him on what developmental delays are normal and what we should be concerned about, as well as get information on where to go from here.

1 Lonely Comment:

Bonnie said...

Wow, sounds like a rough day and a lot of uncertainty. I hope you can get into the geneticist sooner, so you can get some more concrete answers. Our prayers are with you!