We met our goal of funding the phenotyping study. So what now?Read More
The essential six podcast episodes, with links and everything.Read More
THE last thing you want to do in our house if things are going well, is to mention that they are going well.Read More
On the morning of Friday, July 13th, Tess wakes us up. She does this with a cry, as she often does, but this one is different.Read More
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.
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.
We've been waiting for almost Tess's entire life to meet someone like her, to meet a family like ours. And it finally happened.Read More
It's part of life, at least for us, that we take Tess to the doctor. A lot. She's generally a pretty healthy gal. Not many sicknesses, like coughs or colds. Just a ton of stuff that we have to figure out. Like why her hips don't work. Or why she hasn't grown an inch in about a year.Read More
Recently Kendra left that preschool. When you leave, they do an exit interview. And one of the questions was, what has been your greatest accomplishment during your time at this preschool? Kendra had a one-word answer: She said Tess.Read More
The mere mention of PECS in this IEP meeting makes me feel like I'm taking crazy pills.Read More
Tell me what you're supposed to do with that friend. You know the one I mean. You've been friends forever, maybe since childhood. And you call yourselves friends, but the truth is this: they aren't there for you.Read More
In case you've never been in an IEP meeting, let me tell you what it feels like. It is an endurance sport, only instead of doing physical stuff, you're listening. You're listening harder than you ever have in your life.Read More
Tess was headed to summer camp. But what if there was literally no one who knew her? And even worse, what if no one cared about including her?Read More
At this point we’re reeling. We aren’t exactly a roll-with-the-punches kind of family. If we had two typical kids, maybe we would be. But we don’t.Read More
Not everyone thinks before they speak.Read More
I saw progress. With my own eyes. In a hallway and in a series of offices, on a Thursday afternoon in the town of Windham, Maine.Read More
"Come on, Sara," the voice says. It's a woman, probably older, judging by the sound. It's like the way you'd speak to a small child, but there's something else underneath that.Read More
On Christmas Day we wrestle her into a pair of tights and a dress, and she essentially gives us the finger but also kind of tolerates it.Read More
It woulda been so much easier if somebody told us this stuff.Read More
Dads are hard to shop for, and we say we don't want anything. But is that true?Read More
Here is where the toy store becomes oppressive. Because as I browse, I find whole sections that are inappropriate. Almost tauntingly so.Read More