Today, April 7, 2018, is the first-ever USP7 Awareness Day. We've been waiting for years for this. I'm not the only one writing these days about how isolating it is to have an undiagnosed rare disease. I wrote about it four years ago, before we knew about USP7, before we'd found anyone else who has Tess's disease. Here's my blog post from back then.
Ribbons
I constantly see ribbons. Mostly on car bumpers, but sometimes on lapels. The rainbow-puzzle-piece one for autism awareness. The yellow and blue one for Down's Syndrome. Purple for cystic fibrosis.
Thing is, there isn't a ribbon for what Tess has. Mostly because we don't know what she has.
We know she has issues with processing information, both visual and auditory, but we have no diagnosis on that front. She has specific diagnoses as to various parts of her body, like her legs (hip dysplasia) and digestive system (gastroesophageal reflux disease). But as far as an overall diagnosis, one that could explain why she's so far behind other four-year-olds in terms of her language, social skills, and cognitive ability, all we have is "global developmental delay."
All that means is that Tess hasn't met her milestones. She didn't roll over when other kids did, or walk or talk when they did. She's delayed, for sure. But why? Is there a cause?
Our geneticist in Portland keeps a handwritten list of patients she hasn't been able to solve, even after round after round of genetic testing. It's a short list, maybe four or five people long. Tess is on it. The good news is that there's a ton of scary diseases that we now know Tess doesn't have. Also good news: that geneticist turns out to be uber-competitive and, when we told her we would simultaneously start seeing a geneticist at Boston Children's Hospital, she vowed that she, not Boston, would be first to crack the Tess mystery.
The two geneticists are now working together, and they're mapping Tess's genome. This means taking DNA from me, my wife, and our kids, and comparing our DNA with Tess's. She's the only one of the four of us who has these delays, so wherever our DNA differs, that's where the issue is. (I keep joking that they need to locate the gene that makes me continually leave my wallet in public places. I hope not to pass that one to either kid.)
We expect to get the mapping results next month. We've been told not to get our hopes up. If anything, we will probably only be told about a tiny genetic mutation, nothing we'll be able to use in a practical way.
There isn't an awareness week for global developmental delay or random genetic mutations. No ribbon or pin we can wear, and no bumper sticker either. This is okay. We don't need to know what Tess has. There are secret codes, after all, for we parents of globally delayed kids. For example, I am at the pool, in the water holding Tess, and a guy wades over, also holding his four-year-old. I hear him say "occupational therapy" or some other phrase, and I look at him and then we both know. The small talk falls away. We give each other a knowing nod.
We briefly compare notes on the best local resources for funding and for PT, OT and speech. I ask the name of his child, and once I know it I say it aloud, deliberately pronouncing it. He does the same with Tess. I don't know why, but there is something deeply comforting about hearing this other adult--a stranger, really--say Tess's name.
It is like a hundred ribbons.