Daniel's Gift E-Zine
For Families of Children with Special Needs
Searching for a Diagnosis
by Carolyn Murray
Spring 2002
I'm thinking again about diagnoses. Every month when Special Child.com updates it's
site I get a few bites via the diagnosis search page that I have Daniel posted on. There is
a photo of him and a link to a list of his characteristics and the testing that's been done
already.
This month a mother wrote to me to suggest Kabuki Syndrome. Her daughter was
given that diagnosis, and Daniel shares some of the same characteristics. The problem
is, children with Kabuki's have very specific facial features that he does not have, along
with a list of symptoms he is free of.
I turn again to the web search that allows me to plug in his characteristics and get a
list of possible syndromes. Many of them I've looked at before, but I look again anyway.
Nothing fits. It's frustrating. I want to know what caused his microcephaly and all of the
neurological idiosyncrasies that go along with it.
If I had a name I'd have a place to go. I could join a listserv, attend a conference, link
with others who have kids with precisely the same genetic challenge. There's a comfort
in that sort of sharing.
A diagnosis would give me information and answer questions. What therapies work
best? Are there nutritional quirks of the disorder that I should be attending to? What
might the future hold for Daniel?
When he was a baby I was relieved as each test came back with negative results. It
meant that maybe he was normal after all and that all the fuss was for nothing. The
TORCH screen was negative. Whew, that meant no viral infection. Chromosome panel
normal. Well, they must be overreacting to his small brain, then. (Didn't I hear someone
mention a Rhodes Scholar with microcephaly?) CT scan of the brain ok. Metabolic
studies reveal nothing. There must be some mistake, then. my Daniel isn't going to be
retarded after all.
Now, three years later, I'm aching for an explanation. The mystery has gone on too
long. We've tested for Fragile X, done more metabolic work-up, scraped skin from his
arm for a biopsy. The University of Chicago took a good long look at his telemeres, and
still we know nothing. It just doesn't add up. They tell me I may never know.
Some people say that knowing won't change what we're doing, or change what he's
able to do, so it doesn't really matter. That may be true, and yet it matters to me. I want to
know. I need to know. I'm not the sort who is patient with puzzles. I can't rest until they're
solved.
Soon we'll be meeting with a new geneticist. Our first, who I keep in touch with, is in a
town I moved away from; and our second moved away herself. I don't know if our new
doc will have a fresh idea or two, but I'm hoping. My fingers are crossed for a clue.
