We knocked out another referral appointment with the girl today and added two more to the list.
The neurologist we saw today said that the girl has neurofibromatosis. Her pediatrician suspected it based on her short stature, head size, and cafe au lait spots on her skin. The disease has a wide range of symptoms and can be very mild to severe with tumors appearing all over the skin. She doesn’t have any of those and hopefully it will stay that way. The doctor said that kids with NF can have a lot of behavioral issues, learning disorders, and other delays.
Next up we’ll see an opthmalagist to make sure she doesn’t have any tumors on her optic nerve, and then we’ll see a sleep specialist and do a sleep study. The kiddo has huge tonsils, snores, and wakes up at night, so the neuro said she could have sleep apnea. She said if she does, she’d have surgery to remove the tonsils, and then we may see a change in her behavior and that she’d likely stop wetting the bed. We might see if the boy should have a sleep study, too.
Knowing how bad NF can be, it’s scary stuff. But at least they’re catching it now and they’ll keep tabs on stuff that wouldn’t be as obvious as tumors, like the eye stuff (apparently a lot of folks with that tumor don’t know about it until it’s too late and they’re blinded) and kidney function.