Feeling 'Stuck In Between' as a Mom to a Child With a Rare Disease

If you search the internet for “parents of special needs children,” you will find a multitude of blogs, articles and books on the topic. They share stories of doctors’ appointments, treatments and financial woes. Many parents reach out across the country bonding with strangers over shared diagnoses and experiences. Support groups are found all over social media and offer a great place to vent and ask questions of one another. These support groups can be amazing; they help families feel less isolated and allow people to connect around the world.

But what about those children and adults who do not fit the label? They do not “look” disabled; they do not require a wheelchair or assistive device. They do not act or look obviously different. Their disorders and diseases may be rare and are usually poorly understood or simply unrecognizable to the untrained eye. Where do those rare children fit in, the kids who may not have any obvious disability? The kids whose parents may not feel like they fit in a community? I ask these questions because I am that parent. I am the parent who feels I cannot bring up my son’s genetic disorder because it’s not as severe as others’. No one can see my child’s disorder (yet) or know by looking at him that a tiny genetic mutation could wreak havoc on his body.

I am the parent of a child with a rare genetic disorder, whose prognosis is totally unknown. In a sick way I sometimes envy those with a more black-and-white diagnosis. I analyze every movement for seizures, I critique every social interaction and attempt at speech. The terrible twos are no longer something we grin and bear our teeth through — I analyze every possibility that these behaviors maybe signs of something neurological. Every bump and bruise on my son’s skin is obsessively monitored by yours truly for fear it may be the beginning of a fibroma. After every bath I silently count each café au lait spot on my son’s body, noting new ones and praying they will stop appearing soon.

I used to be the mom who laughed when other parents called the doctor’s office after every little sniffle and sneeze; I am now on a first-name basis with my pediatrician’s office staff. There are doctors for everything; I never knew how many doctors one person could really have. I sometimes tease that my son has an “ologist” for just about everything. I know in reality many more specialties are out there, which in turn makes me wonder if and when we will ever need that referral to add to our ever-expanding medical record. I long for order and a black-and-white answer. I like structure and rules and hard scientific facts. But my son’s diagnosis does not offer any black-and-white answers, unless you count the DNA test that helped diagnose him.

When you look at the big picture I know we are lucky. My son is almost 2, and since his diagnosis at 8 months old we have seen no major complications of his disorder. He has a slight speech delay, low muscle tone, some GI issues and has been a little more prone to illness. The “could happens” are terrifying. It is enough to overwhelm any parent.

I remember a conversation with our pediatrician not long after my son’s diagnosis. She told me to go on with life like “normal.” She encouraged me to just pretend our son didn’t have a disorder since he had no major symptoms at the time. Now don’t get me wrong — I love our doctor, but in that moment I wanted to slap her. I wanted to ask her if she was in my shoes, could she pretend it didn’t exist? Could she go on with her everyday life without that little voice in the back of her head asking if and when this disorder would rear its ugly head? I doubt anyone could truly forget about a diagnosis like ours.

Maybe my son’s genetic disorder was God’s way of showing me there are gray areas and unknowns and that even though they terrify me, I can manage those unknowns. My son’s diagnosis has forced me to face many of my personal issues and anxieties. It has forced me to deal with my anxiety and accept my own flaws. I know I will always fear the future for my son, and I will continue to watch over him a little more intensity than most parents do. I don’t think I will ever feel like I fit in with other parents. I’m not sure I will ever stop feeling guilty for comparing my situation to those parents who have more critically ill children. I’m not sure if I will ever feel comfortable putting a label on my son either.

These days there is not much I am sure of at all, except the strength of myself, my family and my amazing little boy. I had never been pushed to step outside my comfort zone and speak my mind until now. I had never challenged a medical professional on a diagnosis or a course of treatment. I had never refused to take no for an answer from an insurance company. I can say now that I understand how to advocate for myself and my children better than ever before. I am prepared to face challenges in school and will not let my son fall through the cracks of the educational system. Some days it is hard, some days the voice in my head tells me I’m overdoing it and I should just forget about the disorder. Some days the voice tells me I’m creating more problems than are really there.

I am the mother to a child who has a rare medical condition that I cannot control, and it scares the hell out of me. I am also the mother to a child who makes me laugh every day and whose hugs and kisses can fix just about everything that is wrong in the world. I am the mother of a child with neurofibromatosis type 1, and I don’t know what our future holds.

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