I’m scared. I’m confused. I’m angry. My heart is breaking.
Today, our sweet, happy, lil’ man was diagnosed with Neurofibromatosis.
I knew it was coming. I had detected it before he was even 6 months old. I had googled the light brown spots he had on his body as an infant & discovered they were cafe au lait spots. Being an avid googler, I discovered cafe au lait spots were a sign of NF (Neurofibromatosis). So, I brought it up to our pediatrician at his 6 month check-up. He said they could mean nothing, but had referred us on to a dermatologist at Children’s Mercy, just in case. At the time, the dermatologist couldn’t make a conclusive decision. He didn’t exhibit any other signs of NF, but he was only 6 months old & only time would tell.
Fast forward a couple years, and I noticed a few small bumps on lil’ man’s tummy. I asked the pediatrician at his well check, and he said it just looked like some irritation. However, he was concerned with lil’ man’s cafe au lait spots, so he referred us on to the dermatologist again. This time, lil’ man had 3 symptoms of NF. The bumps on his tummy had never gone away. We discovered those are called neurofibromas, small tumors under his skin.
As a person gets older, they tend to get more of these neurofibromas, or the neurofibromas tend to get larger. Usually, these tumors are benign, but they still have to be monitored regularly.
It’s a genetic disorder, which we find confusing since neither of us are aware of any family members with NF. There is a 50% chance that his children will have NF. There’s also a 50% chance of learning development problems with NF.
Before googling a couple years ago, I had never heard of Neurofibromatosis, however NF is more common than cystic fibrosis, Huntington’s Disease, and Duchenne muscular dystrophy combined. 1 in 3000 children are born with NF. I feel like the fact that it is more common should make me feel better, but it doesn’t.
There are many different levels of NF. It is a progressive disease, so there is no way to predict how mild or severe it will be for a person. It’s a lifelong disease. There is no treatment (other than having painful or cosmetically troublesome tumors surgically removed). And that terrifies me.
I don’t know if he’s going to grow tumors in his ears & go deaf. I don’t know if he’s going to have brain tumors & have to go through chemo. I don’t know if he’ll be self-conscious of his spots. Of his bumps (neurofibromas). I don’t know if he’ll have tumors on his optic nerve & lose his eyesight. I don’t know if he’ll develop lesions on his bones.
My mind is running over all kinds of possibilities.
I know God doesn’t want us to focus on the what-ifs. I know He doesn’t want us to worry. But today, we can’t see through the tears we’re crying. We can’t see past the heart ache.
We can only hold our lil’ man & pray for him. And be thankful that today, he’s alright.
You can find more information on Neurofibromatosis at nf.org.