Inexplicable – a Rare Disease Day post.

Rare Disease Day 2012

“Could a greater miracle take place than for us to look through each other’s eyes for an instant?” ~Henry David Thoreau

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I’m going to bring you another guest post, today – one that, to be honest, has left me feeling rather upset but that is to be expected … when you read the words, and see the photo, you will be affected too -  and it is from someone that you’ve already met; Mercedes is a wonderful person – ask anyone that has any dealings with her and you’ll get told that same thing – but, unfortunately, her family have had more than their share of misfortune.

However they – and she – don’t let that define them but, rather, to simply shape them.  I have nothing but the humblest of respect and admiration for them.

These are her words:

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The Cyclops had alobar holoprosencephaly.  So, incidentally, did Cy, the Cyclops Kitten.  So did the famous Cyclops shark.

So did my daughters.

I was (happily) carrying triplets when I learned about this disease.   Holoprosencephaly is fairly common.  It means that the forebrain of the embryo doesn’t divide as it should.  The result is a single lobed brain structure that causes some developmental issues.  Some aren’t very severe at all.  The brain may be absolutely normal, close to.  There may be cleft lips, or small facial deformities.  Things you can live with.  Things you can manage.Seija and Luke's hands

Alobar Holoprosencephaly, though, is a whole different ball game.

In this case, the brain doesn’t divide into two halves at all, but stays together as one whole.  Since there is only one section of the brain, there is only one optic nerve.  With only one optic nerve, there is only one eye.

You might be wondering if my twins had only one eye.  The answer is yes.  One passed away too early to tell.  Her identical twin sister, however, was born and lived for five hours.  She was inexplicably lovely.  It’s funny how a face with such imperfections could be so perfect.

The third triplet was in her own separate sac.  This means that she wasn’t identical to the other two.  She’s healthy, she’s happy, and protected from the anomalies that took her sisters.

We’ve had our share of rare diseases in our family.

I’m hoping that there aren’t any more.

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Mercedes M. YardleyMercedes M. Yardley wears red lipstick and poisonous flowers in her hair. She writes whimsical horror, nonfiction, and is the nonfiction editor for Shock Totem: Curious Tales of the Macabre and Twisted.

To find out more about her please visit: http://abrokenlaptop.com/

 

 

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If you are affected by a rare disease, or you know someone who is, please feel free to contact me if you would like to share your experience on here as that would be more than welcome!

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

3 thoughts on “Inexplicable – a Rare Disease Day post.

  1. Thank you for sharing your story in honor of Rare Disease Day. I am so sorry to hear of the loss of your sweet children. My son Gage passed away from a rare genetic disease called early-onset LAL deficiency (also known as Wolman disease) in 2009. As you know, it is so important to be an advocate and speak up for our loved ones. My hope is that someday other families will not have to go through what we did, which is why I founded LALSolace — a support group for people and families affected by LAL deficiency. I wish your family well! Mary http://www.lalsolace.org

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