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Today is Rare Diseases Day

28 Feb

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And boy, do I love a One in a Million.  Or maybe two.  Who knows?

So far, no one really knows.

We call it Sherlock Syndrome, Maura’s condition, because it’s a mystery.  We’ve run so many tests, seen so many doctors.  No one can really point us in the right direction or give us insight to the future.  Our lives are full of questions from others – what’s wrong with her, why don’t the doctors know, have you run this test, that test, are you sure it’s not <fill in the blank>?  Heck, one time, on the Rare Diseases page, they had a survey, and even their survey asked for the name of your rare disease – “Unknown” wasn’t an option.

When you love someone who is really really rare, you spend too much of your time shrugging and going “No one knows.”

But most of the time, it’s just your kind of normal.  You get up, you surprise your child with pink sparkly tennis shoes, she goes gaga over them, dressing herself eagerly so she could put on said pink sparkly shoes, impatient to get to school and show them off.  You go along each day doing your normal things – laundry, coffee, medication dispensing, email checking, grocery shopping, negotiating with the child in terms she understands, dinner, more medication, yelling at everyone to make sure they brush their teeth, collapse into bed.

Normal stuff.

Because every day is Rare Disease Day in our house.  Every day, there’s something to remind us that while we’re used to all this, our life really isn’t “normal”.  Once a year, we do a dreaded IEP, find out how far behind Maura really is, how many skills she doesn’t have, have the cold harsh mirror of reality forced upon us.  We go to doctors, who remind us that Maura’s brain just doesn’t work right, but no one knows why.  We meet new people and have to remember to explain Maura’s issues.  We take her out in public, and get questioning looks from people, because she acts weird but looks normal.

This is our normal life.

It’s not the easiest life, but we’re used to it.  It’s our normal.  And while there are challenges, I can honestly truly say that there have been so many positive life changes stemming from having Maura in our lives.  I see the compassion that my other children have, their amazing patience and understanding. I get to watch my husband be an amazing father ready to meet every challenge and then some.  I’ve watched myself learn how to not let fear hold me back anymore, or put things off for later, when the kids are grown, when I have more time.  I’ve found a voice that needed to be heard.

It’s been an emotional roller coaster, I won’t lie. Being a parent of a special needs child wasn’t really on my radar before I had Maura.  Being the parent of a child with a “something” so rare that doctors don’t know what’s going on was never a thought in my head. Even now, I’m a bit surprised that this is our life.  But it is, and we make the most of it.  Because at the end of the day – that’s all you can do.

Yet despite it all – the rareness, the unknown, the scary moments – it’s a life full of hope, of smiles, of laughter.  Because that’s who Maura is.  She’s not a syndrome or disease, she is a child full of love and happiness and hugs and emotion.  She’s a medical conundrum in pink sparkly shoes. She’s just Maura.

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2 Responses to “Today is Rare Diseases Day”

  1. Cate Pane: The Clear Parent February 28, 2014 at 1:04 pm #

    Beautifully written post! Yes, your daughter is a person, a beautiful human being! My professional experience with IEPs has made me a person who is more focused on what a person CAN do, rather than a profile of deficits. Your writing can give hope to many others who are faced with undiagnosed challenges in their children.

  2. teresamcnally February 28, 2014 at 2:21 pm #

    Looks more like you every day phoebe. Keep going. You are the voice of so many families with the ‘ Sherlock’ factor. X

    Teresa

    >

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