Why my daughter may never receive a diagnosis

7 Jul

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

 

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9 Responses to “Why my daughter may never receive a diagnosis”

  1. Suzanne July 7, 2014 at 1:56 pm #

    Ditto. We’re in the same boat. I don’t even bother anymore. I just say she has the “Kinsey Syndrome”

  2. Christine Stimson July 7, 2014 at 2:14 pm #

    There seems to be a lot more diagnoses ending with “not otherwise specified” lately. Why can’t they just have a category of Special Needs, not otherwise specified or SN-NOS? Not that that would solve any of the problems that come without a specified diagnosis. Having to present Maura not as “this category” but as “this child, with these things going on” must be both a blessing and a curse.

    • phoebz4 July 7, 2014 at 5:53 pm #

      Well, eventually, those with your idea of SN-NOS just get “Cognitive disabilities” stamped on their profile, but it’s very generic and doesn’t open as many doors like, say, an autism label.

  3. Suziqueue July 7, 2014 at 4:39 pm #

    I can kind of relate. My daughter has an official diagnosis of “Autistic Spectrum Disorder” with an unofficial diagnosis of “well we don’t /really/ think it’s Autism, but that’s the closest thing we can come up with right now”. She has her own geneticist who is still interested; every time a new test for a new thing he thinks could be it is developed, he tries it. But so far, no luck.

    But she’s 19 now, so I’ve pretty much given up hope of ever getting a clear-cut answer.

    I wish there didn’t have to be groups for each different diagnosis. I wish people simply cared more about all special needs, and cared enough to fund research for everyone.

    Yeah I know. I can dream though, right?

  4. Cate Pane: The Clear Parent July 7, 2014 at 6:09 pm #

    It must be very lonely. I truly hope that SOMEDAY, you and other parents like you will be given more support and attentive specialists who won’t stop until they determine a diagnosis. In the meantime, your acceptance is sanity; but, it isn’t fair. Years ago, I taught a few students who were “undiagnosed.” At that time and now, I hope for a clearer future for kids without a diagnosis. I am not a doctor; but, I bet the research would unravel many complicated medical questions.

  5. Renee Anne July 7, 2014 at 7:35 pm #

    We have an opposite problem. Little Man (3.5 years) was flagged for a genetic metabolic disorder at birth, more specifically a fatty acid oxidization disorder wherein the body cannot metabolize certain types of fat. There are several types and varying degrees of each type. The one Little Man was flagged for is extremely rare (carrier rate is 1:~50,000 but the incident rate is 1:~500,000)…our geneticist was practically peeing himself with excitement. It gets better, though….he has a novel mutation in the “right” place. Geneticists and other metabolic experts have no idea what this particular mutation does, if anything. He’s already had papers written about him, they’ve done testing on both my husband and I (he gets the novel mutation from me and gets the other, known-disorder-causing mutation from my husband). But, like I said, they don’t know what that mutation does. He’s had no symptoms of the disorder except for some slight decrease in the enzyme activity that breaks down the long-chain fats…but it’s not enough to say that he really, truly has this disorder.

    It’s going to be real fun trying to explain it to the schools…

    Sometimes, I wish there were more interest in what makes each individual child tick.

  6. eden July 7, 2014 at 7:44 pm #

    Same boat, although as a doctor myself I feel like I could likely find a diagnosis if I was allowed to order tons of tests myself BUT insurance won’t cover them. There are tons of genetic tests she’s never had that just might be the answer BUT insurance won’t cover them. Did I mention INSURANCE won’t cover them. AND they are outrageous to pay for out of pocket. So, for now, we continue with Mystery Meg.

  7. Rev Doc Lorna July 8, 2014 at 10:21 am #

    Looking for the medical needle in the haystack is so frustrating. God’s blessing on your journey.

  8. Evie Hawley July 14, 2014 at 3:35 am #

    I wanted to acknowledge the isolation that not having a clear understandable diagnosis makes. My situation is defined, but she has multiple disabilities, so she doesn’t really present like any one of her diagnosis peer groups. Having to have special handling instructions for anyone who interacts with your child or family is exhausting and isolating.

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