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Life with Sherlock Syndrome

11 Feb

I think the one thing I’ve never gotten used to with Maura is the fact that she has no diagnosis.  She has a laundry list of stuff, but no handy dandy label to stick over the list and say “THIS is what we’re dealing with!”

I’ve gotten comfortable with this status.  I’ve had to, it’s been a constant companion since September of 2004.  I’ve even given it its own name – Sherlock Syndrome.  As in “It’s a mystery”.  It’s also a play on our last name, and I like waiting to see who gets the connection.

In a way, I’ve been glad to not have a name, a label, because it means I’ve learned a lot about all sorts of special needs.  I’m not hiding out in my own little corner of the medical world, with others like us.  Because there’s really no one like us except for the few people who’ve emailed me with “I thought I was alone!”   It’s someone amazing to me how segregated the special needs world can be.  All the causes are so specific.  “Help us raise funds for OUR group!” “You can get this therapy, but only if you have THIS label.”  “Let’s get insurance coverage for THESE kids.”

It sometimes gets lonely in my corner of the world.  Because my child – and the other children like her – deserve the recognition too.  We deserve to have some celebrity promoting awareness for all the kids who are falling through the cracks because no one can figure out what form of Sherlock Syndrome they have.  We need to be interesting to medical researchers.  We need insurance coverage too.

I guess small numbers are just not that sexy.

I knew that.  Our neurologist warned us years ago, that we’d probably never know what Maura had because medical research isn’t interested in kids like her – kids who are relatively healthy, who aren’t regressing.  I have had years to process that, to witness the truth of it.

But it was just recently that I got smacked in the face with it again.  February 28th is Rare Diseases Day.  Raising awareness for rare diseases.  It had a little survey you could fill out, about life with your rare disease.

And I realized – I don’t even have the ability to claim it as a rare disease – because one of the first questions asked was “What is the name of your rare disease?”

I wrote “Undiagnosed”.

I know whatever form of Sherlock Syndrome Maura has is rare.  If it wasn’t so dang rare, we’d know by now.  Meanwhile, I’ve learned about all sorts of rare diseases and syndrome – a special needs parent can throw out most anything at me and I’ll go “Oh, I’ve heard of that.”

Because after eight years, I can’t help but still look.  Still wonder.  Even though I’ve accepted it, I still keep searching.

And yet, still, I will keep fighting for ALL the kids.  Not just the ones with This Syndrome or That Disease.  My mantra is that ANY child who needs help should be getting it, no matter what label they may or may not have.  ALL children deserve the best chance at life.  Whether they are the Diagnosis Du Jour or label-less.

That’s my cause.  That’s what I promote.  Children like Maura need to have a place in the Great Big Cause World.

A couple years ago, my husband and I came up with the word “wonderpuzzle” to describe Maura.  Our goal was to unite others who also are still searching.  But then we moved, and life got in the way.  (It’s amazing how much moving to another country can throw you off-track!)  But recently, I’ve felt the need to get back to Wonderpuzzle.   I’m going to start reviving it via Facebook.  Because I love Facebook (well, when it’s not changing my privacy settings!)

So if you’re feeling alone and you have a little Sherlock Syndrome person of your own, feel free to join me over on Facebook.  I have a little group there for Our Kind (it is a closed group, to keep spammers at bay) – if the link doesn’t work, look for Wonderpuzzle on FB.

wonderpuzzle_logo

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10 Responses to “Life with Sherlock Syndrome”

  1. Jessica February 11, 2013 at 10:09 am #

    There are many diseases to which there’s no name, the underlying cause cannot be found. Let alone given a name. What remains is a, as you put it, a laundry list of symtoms but no actual umbrella diagnosis. Life would be easier if one did have a name for what ails your chiild or yourself. I was lucky, I got a syndrome that had been described, yet I don’t fit all the regular criteria. The NIH has a project going in which they review patients which has defied research in finding a name. Some of what they find has never been desribed. The person infront of them might very well be the first case ever described.
    Orphan diseases carry the gloomy fact that it’s being orphan with itself. No one in medicine and/or pharmaceutical industry is all that interested in providing research funding to find a root cause. Not when they can make a bundle in whatever popular medication. My own syndrome is without a cure, yet knowing what it is is indeed a relief.

    Orphan disease/rare disorders day is February 28.

  2. Jessica February 11, 2013 at 10:11 am #

    And with my comment of there being many diseases that remain nameless; people generally assume that an actual name/an actual diagnosis that encompasses all of the laundry list, is present for everyone when it in fact isn’t.

    • phoebz4 February 11, 2013 at 10:12 am #

      Yes, most people are surprised that we don’t know what causes Maura’s issues. Then they ask if we’ve had her tested…so I tell them ALL the tests…then they’re sort of impressed. Doctors aren’t all-seeing gods, I learned that one long ago.

      • Jessica February 11, 2013 at 10:33 am #

        My blood count recently tanked. And I mean TANKED. It was as if I was bleeding buckets of blood. They looked at everything; cancer, bleeding disorders, everything. They found nothing. Still have no idea what made me need blood transfusions almost twice my own volume. It has sorted itself out now, I got some clotting factors, yet they couldn’t find any clotting disorder.

  3. Suzanne Barrow February 11, 2013 at 10:50 am #

    My daughter has a “not quite but close enough” diagnosis. They call her autistic, but it doesn’t *really* fit. We’ve been working with a geneticist for years, doing this test and that test, to no avail so far. So they just keep calling her autistic because it’s the only label that comes close to describing her. So I understand the acceptance AND the frustration. We humans like putting labels on things – it helps us understand the world. So when something – anything, really – doesn’t have a label, we have an almost desperate need to FIND a label for it.

    I absolutely agree with you, 100%, that all children – regardless of label, regardless of whether they even HAVE a label – deserve all the help they can get. Health care should be a human right, not something reserved for this group or that group.

  4. Mary Painter February 11, 2013 at 6:03 pm #

    Thank you for this post. While our son does have a “label”, it is rare, and the only way we have been able to meet other families with a similar experience is through Facebook. It is so valuable to know that you aren’t alone, and sharing everyday day experiences can be such an encouragement. We also moved to a foreign country (Australia) two years ago, so I follow your blog with great interest. Cudos on keeping up with it and the encouragement you have given others. And hoping your facebook group reaches out to many and does the same.

  5. Gail February 11, 2013 at 8:38 pm #

    It took us 16 1/2 years to get a diagnosis so I completely understand how you feel.

  6. Looking for Blue Sky February 12, 2013 at 5:02 am #

    My special girl is still undiagnosed and it’s a lonely place at times xx

  7. Trisa Harris February 12, 2013 at 8:57 pm #

    Thank you for these words and for opening the door to community through Wonderpuzzle!

  8. My Dance in the Rain February 14, 2013 at 8:42 pm #

    My daughter has Cri du Chat Syndrome but it does not make her cause any more significant than any one elses. Your right, awareness and services should be for all people with special needs.

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