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My Greatest Concern for My Child Whose Prognosis is Unknown

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sebastian running with a cape on.
Melanie’s son, Sebastian.

You know those moments as a parent that you will just never forget? Some of those are wonderful moments, like when your baby is born, the first time they crawl, talk, or walk, or the first time they say “I love you.” Those are the moments when parenting is a gift. But then, there are moments that aren’t such a gift. Moments when your world crumbles all around you. Moments you don’t think you will ever recover from. Sometimes these moments are more than just an instant and can drag on for years.

The moment I want to share with you started in the fall of 2012, after my son Sebastian’s three-year check-up. His new pediatrician noticed his numerous café au lait spots and the freckling in his groin, both of which are signs of the genetic disorder called neurofibromatosis type 1 (NF1). We were familiar with doctors telling us there might be something wrong with our child, as we’d heard that when he was a baby and his growth slowed down. But this time it was different, someone had a word for what might be wrong with him. For some reason that word made the pieces of my world begin to crumble.

I put up a large wall of denial to keep my world intact for the next several months. Each new specialist we visited, each research session we spent trolling google for articles about this disorder, each moment we looked at our boy with this fear in mind, another piece would fall away. By the time we received his DNA results in February of 2013, my world was a bit of a mess. Like an old, unsafe building headed into an earthquake, I called the geneticist’s office to hear the results. I already knew what the results would be. You’d think I would’ve been more prepared to hear them, but I was too unstable to be prepared.

I stepped into the hallway outside my office at work to make the phone call. The genetic counselor answered the phone, I waited impatiently while she looked through her files, pacing back and forth in the hallway, wishing I had a better place to make this phone call.

“Ah here it is, oh yes, the test showed he has a mutation on his NF1 gene.”

A loud ringing in my ears started, sudden dizziness crept up, I sat down on a bench to keep from stumbling. A lump formed in my throat, full of tears and screams of anger. After that sentence, she said more words in a reassuring tone of voice, places I can go for more information, who I can call to join a support group — things I wish I’d been able to hear. All of my efforts went to keep the lump in my throat where it was as I thanked her and got off the call as quickly as I could, totally unsure of what else she’d said. I stood up slowly and walked calmly to the bathroom, which was thankfully empty. I locked myself in the stall where I broke down. I don’t know how long I was in there crying. It didn’t matter, nothing mattered. My world had shattered.

Would Sebastian be OK? Would he get really sick? Would I be able to handle it if he did? Or would I lose it like I was losing it now? I just kept thinking, “I’m not strong enough for this. I’m not a good enough parent. I’m a wreck.”

That moment was long. It was the beginning of the depression stage of my grief and it lasted for years. After many more doctors and evaluations, the consensus was that Sebastian was fine, great actually for a kid with NF1. But still if I think too much about what could happen, I’m left with the feeling of utter helplessness. Nothing makes me feel more helpless as a parent than NF does. Raising a child isn’t easy, nobody said it would be. But raising a child with a diagnosis like NF is an intense roller coaster of emotions, nowhere close to easy. Sometimes I feel OK about it, since his issues so far have been mild. I’m inclined to push it from my mind and not think about it, not worry over it so much. He’s fine. He’s going to stay that way. Right?

The most frustrating part about this, is no one can answer this question: will my son be OK? Will this be a mild hindrance in his life or will it cause him pain and suffering? No one knows. There has not been enough research for anyone to be able to answer my very simple question. The best I’ve found in all my research is “most cases are mild to moderate.” What’s their definition of “moderate” and “most?” That doesn’t instill a lot of confidence.

So what might happen to him? What is NF1 exactly? The NF1 gene is one of the genes responsible for suppressing tumor growth. A mutation on the NF1 gene allows tumors to grow on nervous tissue throughout the body. Tumors sometimes form on the optic nerve, causing blindness, or in the brain or spine causing a host of other problems. In addition, NF1 can cause deformation of bones, like scoliosis and tibial dysplasia, behavioral disorders like autism, seizures, an increased risk of cancer and more. NF varies greatly from one case to the next, even within families. There is no way to predict how serious it will be, no known way to prevent it and no cure. Treatment only includes managing symptoms and removing tumors if they become a problem. It is a life-long, progressive disease, meaning it will only get worse as he ages.

Sebastian smiling

How common is NF? NF happens to 1 in 3,000 births, making it rare, but more common than other diseases you’ve actually heard of like cystic fibrosis, muscular dystrophy, and Huntington’s Disease combined. About half of NF cases are inherited, but the other half are new mutations, as is the case with Sebastian. They have no clue what causes these spontaneous mutations, another reason this needs to be researched more. Maybe they would be able to figure that out, and help prevent millions more from having to deal with this. Not to mention the millions of cancer patience who would benefit from NF research, since a lot of it has to do with suppressing tumor growth.

Research would also benefit many more who will inherit this disease. If one parent has NF, there’s a 50 percent chance they’ll pass it on to their child. That means someday Sebastian will be faced with a hard choice when deciding if he wants to have children of his own. My heart breaks at that thought. But then I think, if I had somehow known that my baby would end up with NF, would it have kept me from having him? Even given all the knowledge I now have about how bad it might be for him? Of course not. Sebastian is an incredibly special human being. As much as I don’t want to see him suffer, I couldn’t possibly deny myself and the world the experience of having him in it. He is an amazingly happy, social, accepting and loving little 6-year-old. I’m grateful for him, and this difficult NF journey every day.

This post originally appeared on the Invisible Illness Battle

Follow this journey on Mel’s Empty Journal

The Mighty is asking the following: What’s one thing people might not know about your experience with disability, disease or mental illness, and what would you say to teach them? Check out our Submit a Story page for more about our submission guidelines.

Originally published: June 3, 2016
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