Why my daughter may never receive a diagnosis

This topic came up among friends last week, when I was chatting with them about how we’re starting the med-weaning process – the fact that Maura may never receive a diagnosis.

“But why not?” people have asked me over time.

For those new to the game here, the answer isn’t because of lack of trying on our part.  We have run tests.  So many tests.  Gene tests, metabolic tests, the more generic tests and the more specific tests. Whatever you test with blood and urine, we’ve tried to do.  She’s seen a neurologist, geneticist, pediatric psychologist, neurogeneticist, more neurologists.  Her MRI has been reviewed several times.  Her features have been noted time and again, and I’ve filled out more developmental questionnaires than what’s probably good for my psyche.

Where we’ve drawn the line is more invasive procedures, like the muscle biopsy.  That will only happen if we have good reason to do it.

“But how come they can’t find anything?”

My standard answer has been that they’re doctors, not God.  They are human beings with only so much knowledge.

Lately however, another fact is coming into play – some just aren’t that interested.

See, what Maura has isn’t medically “sexy”.  She is a happy, relatively healthy girl with no regression but some disabilities.  Nothing is life threatening, nothing is impeding her ability to live a decent life.  She’s not teetering on the brink of a medical crisis, nor has she lost abilities she once had.

More importantly though – she’s one girl.  She’s just one child.  She’s not 1 in 88 or even 1 in 10,000.  She’s just one.

There’s no funding for medical research to find out what makes one child tick.

We’ve known this for years, ever since my husband asked our first neurologist if Maura had something.  I can still remember his response -an emphatic “Oh, she definitely has something…” followed by “…but you may never know what that something is.”.   He then explained how medical research isn’t interested in cases like Maura’s.

It’s not sexy.

It’s not funded.

It’s just not interesting.

Not to those in the medical profession at least.

I’ve had to be comfortable with the fact that Maura will most likely never receive a diagnosis.  I had to come to terms with that years ago, along with so many other things about Maura.  For all her cognitive disabilities, she’s too healthy, too happy, too social, and therefore, we fall through all the cracks, from medical ones to caregiving ones.

I know we’re not alone in this – but it creates a bubble around us, that makes us feel alone.  There is no national group lobbying for better health care for children like Maura, for insurance coverage and therapies.  There is no local group I can call for support and a list of doctors that treat her condition.  No web site run by parents to give me a clue as to what Maura may go through medically come puberty and adulthood.

And that’s just how it is.

There’s a certain degree of acceptance to it all.  Because you have to accept this or go mad. You accept that you’ll never know, that even if  you did come up with something, it’s probably so rare that you still have no answers.

But every so often, I’m reminded that I do want that interested doctor for Maura.  The one who’ll try to figure out that mystery instead of just treating the symptoms.  I’m afraid, as she gets older, those doctors are going to be almost as rare as a diagnosis for her.


Maura, waiting for the school bus 2012