I thought it maybe easier if I summarized our week, so it was easier to follow than the two posts I shared when we were in the hospital.
I was diagnosed with NF1 around 2002. I was in my early 20s.
I didn’t meet the really meet the requirements until then but my new doctor suspected my “keloids” were something else and he was right. We did a biopsy on one and that’s how I was diagnosed.
I was paralyzed in a car wreck in 1999 and despite all the MRIs and CT scans and surgeries no other doctors ever picked it up.
My husband and I chose not to get genetic counseling because we wanted children and understood the 50-50 risk from our own research. I had three children and two of them have been diagnosed with NF.
The neurofibroma on my skin multiplied with each pregnancy. I now have an insane amount of them on the majority of my body. 🙁
We had our first son and 2004 and he never showed any signs of NF. We had our second son in 2008 and he has the classic café au lait spots. He has more or less been diagnosed by his pediatrician but would like us to see genetic counseling. He is showing no other signs.
We had our third son in 2011 and until two weeks ago the only signed he showed where the café au lait spots. However a week and a half ago he started looking cross-eyed. I took him to an ophthalmologist and she noticed optic disc swelling (palpilladema) & immediately sent us for an MRI. The first MRI was for his brain and the doctors immediately, without even knowing our history, said that this kid has NF! He showed the classic “NF noise” but they found no other reason for the swelling.
They did a lumbar puncture and took four vials of fluid and those all came back normal too.
The neurologist was doing patellar reflex test and his left leg was giving us have abnormal results. The right leg flexed and relaxed normally. He ran a thyroid test and that came back normal.
A few hours later there was a bruising where he kept tapping his knee and so they ran a clotting test and it came back normal.
After all of this they decide to do a spinal MRI and another lumbar puncture to check his pressure. Again everything checked out normal.
A second neurologist saw us the next day and he’s told us that my kid “just had NF and that it must have been pseudopapilledema”. They sent us home with no real answers, but all the bad stuff has been eliminated.
Our next step is to follow up with the ophthalmologist to see if she still sees swelling and to see what we are going to do about the strabismus and then the first neurologist that thinks we are still missing something.
After that we will make an appointment with the NF specialists in Dallas or Houston.