ClobberBlog | Mormonism, Evangelical Christianity

It’s always fun trying to explain my daughter’s disability to strangers. I’ll usually start with, “My daughter has a rare genetic disorder,” to which they’ll reply, “What’s it called?” And then I take a deep breath and say, “It’s called velo-cardio-facial syndrome.”

Them: “Huh?”

Me: “Also known as 22q11 deletion syndrome.”

Them: “Still haven’t heard of it.”

Me: “Sometimes known as DiGeorge syndrome.”

Every now and then, they’ll get a spark of recognition in their eyes at the sound of one of the alternate names. More often they haven’t heard of any of them.

Lack of a single, cogent term to describe the disorder coupled with widespread ignorance of it makes for major frustrations to the parents of newly-diagnosed children. Everyone knows what Down syndrome is, and it only has one major alternate name which all medical professionals and plenty of normal people know: trisomy 21. Some statistics say Down syndrome occurs in 1:1000 births, while a 22q11.2 deletion occurs in 1:2000 births. That means for every two kids out there born with Down syndrome, there’s one child born with velo-cardio-facial syndrome / 22q11.2 deletion syndrome / DiGeorge “syndrome.” But no one knows what it is, plenty of pediatricians aren’t interested in learning, and geneticists can’t agree on what to call it.

Let’s talk about the name issue for a second. The three most common terms for it are velo-cardio-facial syndrome (with or without hyphens), 22q11.2 deletion syndrome, and DiGeorge “syndrome” or sequence. What’s up with all that? Dr. Robert Shprintzen wrote an article for the Velo-Cardio-Facial Syndrome Educational Foundation called “The Name Game” which explains it all very well. Here’s a summary of his points:

If you’re still with me, you’re probably asking, “Why the hell can’t they just decide on one name and stick with it?” Shprintzen and the folks at the VCFS Educational Foundation prefer the term “velo-cardio-facial syndrome.” The folks at the Children’s Hospital of Philadelphia prefer “chromosome 22q11 deletion.” Folks in Britain and some other parts of the world seem to prefer that horrible misnomer “DiGeorge syndrome.” And there are some other bizarre names for it in other places and languages.

The reason why they can’t agree on a name though? Well, I have a really crude way of putting it. As far as I can tell, it’s the medical research equivalent of a “whose penis is the biggest” contest. This is a new enough disorder that the people who first began observing and diagnosing it are all still alive, and they all want to wear the big, shiny crown. So they have this medipeen contest where they try to advocate their preferred term for the disorder as much as possible, in hopes that theirs will be the name people remember. They really don’t care that the bickering causes confusion and makes things harder on us parents. We probably won’t see any solidarity on the issue from geneticists until a few of the original researchers kick the bucket and quit fighting for it.

I prefer to describe my daughter’s disorder as velo-cardio-facial syndrome (with hyphens) for several reasons. The folks at the VCFS Educational Foundation have been the most helpful to me and given me the most straightforward information. As an abbreviation, “VCFS” is the shortest one to say out loud and the shortest one to type. My daughter doesn’t have DiGeorge sequence so I can’t use DiGeorge, and 22q11 deletion syndrome is such a mouthful to both type and say that I’d rather not. I actually kind of liked calling it “Catch 22,” but all the serious geneticists say only insensitive jerks call it that. So, can I call it that if I’m okay with being known as an insensitive jerk? Eh, I’m sensing that would be an uphill struggle.

Anyways, until I hear a better argument for another term then, “VCFS” is what I use and what I encourage other parents to use. Have fun!