Today was the long awaited appointment with the genetics team. We were referred there for suspicious hyperpigmentation concurrent with a neurological disorder called Neurofibromatosis type I. (NF1 for short.) Additionally, the possibility of one of the many mutations of Cystic Fibrosis has been on the table for a long time, now.
There are many things that were said during the appointment that I'm sure I'll miss in this note, but here goes.
In regards to the NF1, he has a big head and a small stature. That, combined with the cafe au lait stains, the gross and fine motor delays, and the speech delay has led the team to conclude that he is definitely diagnosed, with a 75% surety. The blood test for the other 25% is $2k out of pocket. We're going to take the 75%. Now, what does this mean for him in the future? No one knows. He could develop nodules in his brain, on his spine, on his nerves, in his muscles, on his skin, or in his eyes. By the same token, he could never exhibit another new symptom. He may not speak, he may. He may fall into the autistic spectrum, he may not. There's a lot of may/may not's with this one. He goes for a recheck in a year, unless new developments arise.
That out of the way, there is definite concern for his slight stature. Height and weight fall just under the third percentile for him. With all of the GI issues and his continued failure to thrive, having the sequencing done for Cystic Fibrosis was a definite.
In regards to just his slight stature, there may have been some malabsorption and malnutrition during the puking/diarrhea times. In addition to the may/may not's above, his grown may/may not have been stunted, and may/may not even out later.
Overwhelmed? Yes. But that is where we are. Love you all, xoxo
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