For seven years, the question “What does Maura have?” has come up. First, it was us asking it. Then, it was others – friends, therapists, schools, strangers.
People – including us – want to know what causes Maura’s issues – her delays and seizures and other things. The answer has always been “I don’t know.”
When Maura was three, Josh finally asked a doctor point blank “Do you think she has something?” The doctor answered “Oh yes! I know she has something. But what that something is, you may never know.”
See, my daughter’s condition isn’t really that sexy to medical researchers. She’s pretty healthy, she has no regression, she makes progress – even if it’s slower than a snail on a dry day – and there aren’t 5000 Maura’s running around the metropolitan area. So it’s just not worth it to those medical researchers to investigate why my daughter is the way she is.
That is the harsh reality we deal with constantly. Another doctor did reassure us that after a while, and after lots of testing, not having a diagnosis is actually a good thing – because it means we’ve ruled out a lot of the more scary, devastating diagnoses. Which is true. But it doesn’t make you feel less stupid answering “I don’t know.” to people’s questions.
When your child doesn’t have a “proper” diagnosis, the world becomes…well…more interesting. You live your life viewing things differently. People love to send me the “Welcome to Holland” story – which can be wonderful and inspiring…except we never made it to Holland. We’re stranded at the airport, still waiting for our destination. I would kill to get to freaking Holland at this point.
Also, when your child doesn’t have an overall diagnosis, people become very…opinionated and experts on diagnosing others. There are those who ask you if you’ve checked out this or that rare syndrome – usually it’s something I have already researched. If it’s done in a nice “hey, I want to help you out!” sort of way, I never mind. Heck, I find myself in that position sometimes of saying “Have you checked this out.”
But other times, it’s “Well, are you SURE it’s not X?” Yes…
“Positive?” Pretty darn.
“Are you just AFRAID of an X diagnoses and are in denial?”
No. Seriously. I’ve been asked this. It’s usually one particular diagnosis which is very much in the news these days. When my husband was once confronted by this, and explained patiently that no, she didn’t have X, we tested for it, the tests came back normal, the person said “Well, how well do you trust your doctor?”
Um…more than you, complete stranger who’s never met our daughter. (Which is not what he said, he was nicer about it.)
People who go down this route, grilling us over what they thing our daughter has, don’t understand a very basic principal – if you spend literally years looking for a diagnosis, you have read a lot of scary shit out there and you pray that’s not what your child has. Meanwhile, stuff that makes the average parent quiver in fear? That stuff is completely doable in your book. Especially if it comes with treatment plans and other parents going through the same thing. When Maura was first diagnosed with epilepsy, I went into overdrive and got all sorts of informative and proactive – because it was the first thing we could really do something about, inform people about, that people could go “Oh! I’m familiar with that!” The school was impressed with all the information and guides I handed them – I was just happy to be able to do something.
Imagine your child having a problem and having no idea how to fix it. That is our reality. We know she has “something”. We know that “something” includes delays and seizures. We don’t know how long she’ll keep progressing, or if she’ll develop other health problems. There’s nothing telling us “Kids with X usually potty train by age 10” or “Children with X will never learn to do this.” There’s no statistics, no support groups, no funding. Heck, at one point, the state of Michigan didn’t consider Maura disabled. Why? Because she didn’t have a “qualifying diagnosis”.
So when people insist we must be in denial because we won’t look into what they think Maura has, it doesn’t show our reluctance, it shows their ignorance. Because if they lived a year or two in our shoes, going along the best we can without a road map of our child’s future, they would never ever ever dare to say the word “denial” in our presence.
There is also another group that says “Well, why don’t you just get X diagnosis, then you can qualify for lots of stuff!” My answer is – because it wouldn’t be true. Why diagnose her with X if she actually has YZ? Not to mention, some insurance companies, if you’re diagnosed with one thing, say “Okay, you’re done, no more searching!” Why pigeon hole ourselves like that?
I will say, being on this side of things, I get to view things from another perspective. Maura not having a diagnosis means that I see similarities between her and lots of other kids with different diagnoses. In a way, my view is broader than others. I don’t have a cause to support, so instead, I support all the causes. I don’t see what makes my child different than yours – I see what makes your child similar to mine. I don’t just want children with X-Thing to get therapies or insurance coverage. I believe that any child who needs it should get those therapies. I see how things that work with one group of kids can work for other kids with similar traits, even if they don’t have the “qualifying diagnosis” (a term I tend to twitch at.) I tend to surprise other moms by knowing the syndrome or issue their child has. I remember a friend, when we were still getting to know each other, saying how her daughter had selective mutism. Instead of the blank stare and “Huh?” she was used to getting from other parents, I said “Oh yeah! I’ve read about that!” It’s almost like a party trick. Not one I ever expected to have, mind you. But that’s just how it is.
Just over a year ago, our last big thing before moving to Ireland was a trip to the Cleveland Clinic to see a specialist, in hopes that maybe this doctor could look at Maura and go “Oh! I know!” Within ten minutes of meeting with the doctor, I knew our journey was in vain. I decided then that if none of the tests came back with answers, I was going to give up and start telling people Maura had Sherlock Syndrome – as in “it’s a mystery to us” and a play on our last name – and call it a night on trying to find out what her “something” was. But then when we met with the neurologist here in Dublin for the first time, I could tell he was intrigued by her, and then he asked if he could take pictures of her to show his friend the geneticist.
And once again, I found myself getting hopeful. And maybe…just maybe…if we do figure out what Maura has, or what’s causing Maura’s issues…and it doesn’t have a name…we could still call it Sherlock Syndrome. I think I’ve earned the right to name it after all these years.
“…when you have eliminated the impossible, whatever remains, however improbable, must be the truth…” – Sherlock Holmes, “The Sign of Four” by Sir Arthur Conan Doyle
Note – there is an organization out there, SWAN – Syndrome Without A Name – started in the U.K. with a branch in the U.S. According to SWAN – “Although estimates vary enormously the most commonly quoted figure suggests that between 30% – 40%of special needs children do not have a specific diagnosis.”