The geneticist confirmed that Sebastian meets the criteria for having Neurofibromatosis. With his symptoms, there's a 90% chance he has it. Thankfully that was the worst of the news. The rest was lots of good news.
- They agreed we need to do the DNA test to be sure. This test will not only test for NF-1 (Neurofibromatosis Type 1), but also SPRED-1 (also called Legius syndrome) which is a condition that has many of the same symptoms, minus the tumor growth. They are discovering more and more people with this one all the time, so here's hoping!
- They are good at getting insurance companies to cover this test. They are submitting all of the necessary paperwork and we should hear back in about 2 weeks hopefully.
- They have phlebotomists (people that draw your blood, a.k.a. vampires ;-)) at OHSU that are very good with children and know how to make the blood draw experience not traumatic.
- Even if his test does come back positive for NF-1, the geneticist does NOT recommend or require regular MRIs unless he develops other symptoms. This is the opposite of the Neurologist who wanted to order his MRI right away. We were very pleased to hear this. First she will recommend an eye exam, where they will be able to see if he has any tumors on his optic nerve (one of the symptoms of the disorder). If they do see something, then he will need to get an MRI. But at least the eye exam will be a lot less invasive (and less expensive) than an MRI.
- They agreed he is not showing any symptoms of learning disorders or tumors.
- Of people with NF-1, only about 15% experience tumor growth, and of those people, only a small percentage actually require surgery. So it sounds very likely that he could go his whole life without ever actually having a problem from this disorder.
The only other piece of bad news was, once they do the DNA test, it takes an entire month to get results back. But still, at least we should know something for sure in the next couple of months. In the meantime, we will stay positive and off of google. :-)