Reflections on the Orphan Disorder Conference

Recently I was chatting with another mom in remarkably similar circumstances to mine. She also has three kids under five. One of hers is also severely disabled and requires a feeding tube and wheelchair. My kid with disabilities has more going on in the cognitive and social department, hers has more in motor skills. But really, they are roughly the same level.

There was a very significant difference, however. Her kid is undiagnosed. It sometimes happens that while a kid very clearly has a genetic disorder — there are dysmorphic features and all the physical and cognitive hallmarks of a genetic disorder — her genome will appear normal on most tests available. Everyone knows something is going on genetically, but no one has any idea what. And that is the case with the daughter of this mom.

Not so in my kid’s case. The disorder readily appears on genetic tests. Due to a derivative unbalanced translocation (a piece of one chromosome broke off, and a piece of another made an extra copy and stuck itself on in its place), my kid has two syndromes. He has a deletion, where the piece broke off. And he has a duplication (also known as a partial trisomy) where an extra copy is made. Extra genetic material doesn’t sound like a big deal. Down Syndrome, however, is a matter of a duplication of one of the 21st pair of chromosomes: trisomy 21.

The only person who appears in the literature who has roughly my kid’s deletion and duplication failed to thrive and died at age two. Clearly, that’s not the case with my kid.

Less than a hundred cases have been described in the medical literature of my kid’s duplication. I have never been in contact with anyone who has it. I have contacted registries of rare chromosome disorders in the U.S. and U.K. and turned up no one. I’ve sent out feelers on rare chromosome listservs – no one. (Interestingly, though, two doctors I know have told me they’ve had a patient with it.)

Yet my kid’s deletion syndrome has got some numbers. It even has a name! On the blog, I call it Ridiculously Rare Syndrome, or RRS, for googling anonymity reasons, but those of you who would like to know what it is, it’s this. Less than a thousand people in the U.S. have it, so it’s considered an orphan disorder (I love that term, it seems so nineteenth century). But we have a support group and everything. So what do I have that this other mom, whose kid is undiagnosed, doesn’t? Actually, I think what I have is so much that I’ve decided to direct all my fundraising efforts toward our syndrome support group.

One nice benefit of raising funds for them is that they are such a small organization with such a small mission. So they have no paid staff that I resent getting the funds. Unlike any major organization, they hold no official positions or legislation support with which I might disagree.

These people are family. Seriously. We have nothing in common except we’ve all been through the same insanely life-altering experience. Which, it turns out, is a lot to have in common. Like family, a lot of these people may not have been my best friends otherwise, but we really do have a bond. And I think the very rareness makes that bond all the closer. We are all facebook friends, and one of them has become one of my very best friends. It’s a group of people who all know what it’s like to have a kid with severe disabilities.

Today our family is headed to the national conference, which is held once a year. We have gone every year since my kid was born, and plan to keep going. The first time we went was terrifying. You can read about severe disability in reading up on your kid, but you don’t get to see it very often out in the world. Yet here, all around, are the people whom your kid will grow up to be like. They look more like him facially than you do. They have his gestures and movements. And, they are very disabled. I thought everyone would insist everything was all sunshine and smiles and no one would admit negative feelings and I would be lost and alone. I was wrong.

I met a woman on a line for lunch. “This is your first conference?” she asked. Yes, I replied. “What are doing down here? I spent the entire first conference in my room crying hysterically!” Person after person I met lightheartedly referred to how hard the conferences were at first. They also were shockingly able to discuss the negatives of having a child with disabilities while making utterly clear their love for their kids.

There are talks from professionals, which I find sometimes helpful and my husband finds utterly useless. Researchers studying the syndrome show up to recruit subjects, and I am enthusiastically in favor of this.

Most important, though, is the sense of community and normalization. With a rare syndrome and severe disability, most of us don’t know many others in our situation. I so rarely see anyone as disabled as my kid. For one weekend, we are like every other family around us. Every night, there is a hospitality suite with beers. We can drink and socialize with parents who are like us (this is the part my husband likes). This makes it all seem do-able, even fun! And this is the place where you get the most helpful tips on how to deal with what comes up.

For one weekend, people I run into in an elevator unhesitatingly coo over my disabled kid. Not to make a point about their tolerance, but because he’s cute. I don’t stop to think about whether his feeding tube is visible. My oldest son gets to see that he is not the only person with a brother who can’t walk or talk.

It’s a moving, grounding experience, and one I am privileged to have once a year.