What Happens When There's No Specialists for Your Child's Disease

When you have an undiagnosed child, fear of the unknown is your constant companion. You watch your child carefully, trying to tease out which of their little quirks are symptoms and which are not. Second guessing becomes a pastime.

Why is this happening to my child? 

Was it something I ate? 

Something he ate? 

Was it all the happy hours I went to after work before I knew I was pregnant?

The oral vaccine I chose over the injection?

Is my child going to die?

No one can prepare you for this existence. There is no short course on navigating an unidentified disease; no strategy for fighting an invisible foe. In a world where over-the-counter pregnancy tests and DNA paternity testing is the norm, a disease without a test is difficult for some people to comprehend. You therefore may be accused of not doing
enough to find out what is wrong. Doctors may lose interest after hundreds of tests turn up nothing.

It’s a lonely place to be.

You believe with all your heart that a diagnosis will bring closure and a possible treatment for your child’s illness. A diagnosis will open doors and give you access to the people and resources you need to provide the best possible outcome for your child.

And then one day the diagnosis comes and there is a sense of great relief: finally, you will be able to take your child to the specialists who can help. You can connect with the experts who know how to treat the disorder and tell you what the future holds for your child. The answers will be forthcoming and for the first time in years, there is hope.

But your child’s disease is rare, and before too long you realize there is no expert. No clinic, no research, no resources at all. The doctors you see rely on the same research journals you are reading, most of which contradict each other.

The only person who is going to research and understand your child’s disease is you. You will have to advocate even harder than before, educating doctors and pushing for treatments that don’t exist or are considered fringe. You will have to reach out and find other families with the disease and learn from them. The only difference between your world before diagnosis and the world after, is there is a name for the “evil beast.”

For 17 years I had a child with an undiagnosed disease — a disease so severe it was relentless in devouring my son. My formerly healthy child was disappearing in front of our eyes, and no one could tell us what was wrong or how to make it stop.

My son has an extremely rare genetic disease called riboflavin transporter deficiency type 2 (also referred to as Brown-Vialetto-Van Laere disease). There are fewer than 100 people worldwide identified with his condition. Because this disease was only identified in 2012, we have spent most of my son’s life looking for a diagnosis which didn’t exist. When we finally received a diagnosis in late 2014, we were handed a single research paper and told we could try the recommended therapy the researchers had proposed.

That was it. No doctor referral. No clinic. No research trials. Nothing. 

No one in the world was studying this disorder in any significant way, and any
doctor in the United States who had ever heard of the disease was going by the
same research paper we had been handed.

The same day we learned our son’s diagnosis, I got online and tracked down a small online forum that had been created by a few proactive parents. I started learning what treatments they were finding successful and what research they had come up with. And over the past 18 months that I have known the name of our son’s disease, I have not found a single physician who knows more about our son’s condition than I do.

Recently a friend asked where my son was being followed, now that we have a diagnosis. We live in a part of the country revered for its medical facilities, so the question seemed reasonable. Surely there must be several doctors following a case such as his. “No one is following him,” I managed, finding the words difficult to utter. It must have sounded like an admission of guilt because her face stiffened. “What I mean is, there is no one in the United States who knows much, if anything, about this disease. I have had to do my own research and learn everything about this disorder by myself. I am the one following him and developing a treatment plan. I’m the only one monitoring his progress. There is no one. Just me.”

The words stung as they left my lips, comprehending for the first time the weight of the situation. I was suddenly jealous of all the parents with children who had doctors they could call about their child’s disorder — the ones who had designated clinics and specialists at their disposal whenever they needed support. I envied those who could go to the library and find books about their child’s illness or get online and find people who had answers to the tough questions.

That same day my son’s report card arrived in the mail. He had received straight A’s for the year and had more or less aced all four years of high school. Yet it wasn’t always that way. There was a time when the school system didn’t want to accommodate his escalating disabilities. With no diagnosis and deteriorating health, who knew what he’d need tomorrow?

I recalled the years of battles with school administrators, making sure he was not denied the same opportunities as other children.

I thought about the doctors who closed doors in my face while I was still asking them questions about my sick little boy.

The years of, “I’m sorry, there is nothing more we can do for your son.” 

Yet there I sat, gazing at a perfect report card from the hardest working kid I’ve ever known. And all of a sudden, a revelation occurred: perhaps the lack of a specialist wasn’t a bad thing after all. In fact, maybe it was pretty wonderful. My son had exactly the right person for his disease following him: someone who had spent years advocating for him and pushing boundaries; someone motivated to learn everything there is to know about his disorder; someone intelligent enough to understand medical information and apply it to his situation, and whose full attention was on discovering the best possible way to treat his disease.

And most of all, he had someone who cared about him so much they would do anything to make sure he succeeded, not only in life but also in health. In the end, my son’s specialist had become me. From those first precious months counting down the days until he was born, to the moment I opened his stellar report card, it has been me. I am the one following him, and that’s OK. I can’t think of anyone better suited for the job.