Thursday, December 16, 2010

Boston Children's NF clinic visit

So yesterday we went to the NF clinic inside the genetics department at Boston Children's Hospital. Not quite as informative as we thought it was going to be, but really, there wasnt much more they could tell us. They 'highly believe' that Alvin has NF1, but he doesnt meet diagnostic criteria (yet). No surprise there, most of the diagnostic criteria for NF dont show up until adolesence or older. So, because Tricare and Navy are on our butts for a FIRM diagnosis, the NF clinic is going to send out for the genetic test for NF. However, a negative on that test doesnt mean he doesnt have NF. In that case, we'd re-evaluate once he'd have a second diagnostic criteria. The doctor is pretty sure that the test is going to come back positive though. Regardless of the outcome, we are to treat Alvin as if he DOES have NF1. Basically, as far as they are concerned, he does. Like the neuro in Akron, the doctor here has said that Alvin meets all the non-diagnostic criteria of NF. He has a big head, small body. He is learning disabled. He has spots on his brain. He has more than 6 6mm cafe-au-lait spots. Unfortunately, only ONE of those is a diagnostic criteria. He is showing signs of having a second sign: speckling in the folds of the skin. In Akron months ago, he had none. Now he has a few. The doctor said that most NF kids develop the 'speckling' sometime between 3 and 6 years of age, so him starting to have some isnt surprising. If he develops MORE of the speckling, then they could diagnose him based on that and the amount of spots he has.

Basically, we wait. Wait on the gene testing to come back in 2 months. I'm sick of waiting. I really am, but this will hopefully give us a solid answer. Normally they dont go to gene testing this early in NF. They prefer to wait to see if a second sign shows up. Being in the Navy though, we need an answer. The Navy wants Alvin in the EFM program if he has NF.

Anyway, some good news. Alvin is officially 35 inches talls and weighs in at an astounding 27 lbs! Woo hoo!

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