Williams Syndrome Pity Party – Table for 1 in 20,000

Sometimes you just need to let your heart be broken for a bit, before you can starting putting it back together again.

We’ve heard from genetics as I mentioned in my last post.

My sweet, perfect tiny baby girl was just that. And when I was talking to the doc, just before he gave me the news, I looked over at her and thought, I need to remember this moment, because right now, you’re not a patient or a diagnosis. You don’t have a label. You’re just my perfect little baby. You have challenges and good days and bad days but that’s all they are. I need to remember this because there will be times when all I see is what they tell me you are and I’ll need to remember this sweet little critter, my Obi, my little peachie pie. Little chicken. Little Miss. Missie Miss.

I knew while I was still carrying you that you weren’t typical. I knew when I first saw you there was something different about you. I mentioned it time and again to nurses and doctors. To your dad, friends, family. I did my research. I read and dug. I came up with a theory. And I was poo-poo’d. I was told I was crazy, looking for problems that weren’t there, I needed to give you time, you were small, a preemie, coming around, I was told “it’s gonna feel good when you get the results and I can say I told you so”. The docs told me it didn’t fit, it was unlikely. They told me they’d test but they had other theories.

But I have know you the longest. And who knows you better than me? I wish I could tell you I was wrong Peachie Pie. Or that the thing I had identified was trivial or slight.

But it’s not, sweet love. And the challenges you’ve faced are small compared to what lies ahead.

You have Williams Syndrome.

10-20 times more rare than Down’s Syndrome, you have a complex condition caused by a deletion on chromosome 7 that commonly results in heart, kidney, thyroid and calcium issues. It means spacial difficulties, learning difficulties, an increased chance of ADHD, autism, diabetes and a low IQ. With these challenges also come strengths in verbal abilities, an outgoing, friendly disposition and a likely affinity for music. From my very preliminary understanding, it’s a complex syndrome with limited research and limited funding. It’s a very rare condition. And I’m so sorry you’ll spend your life in an uphill battle.

You’ll wage war against physical, mental and social challenges. You’ll battle perception. You’ll battle labels. You’ll find everyday tasks to be beyond your grasp. You’ll always be different but not by your own choosing.

That makes me very sad. Jaw droppingly, heart achingly, sick to my stomach sad. But know this. You won’t have to fight alone. Once this pity party ends (i just need a little time to grieve the things i had imagined for you and for us that won’t happen the way i had planned) please trust, in the very core of your being, that I will fight with you and for you, with every breath until my last.

You may be a 1 in 20,000 child, but that makes me, by default, a 1 in 20,000 mom, and together we will create the most wonderous life for you, your brother, and our whole family.

I just need a minute. A minute or two more. Just let me sit here a little longer before we start the fight. I need to catch my breath first. And I haven’t had my piece of pity party cake yet.

1 Comment

  1. Melanie

    June 30, 2013 at 2:04 pm

    Reblogged this on In Vitro Veritas Blog and commented:

    Sorry to have kept you in the dark. I needed to tell real life people before I could post about what’s been happening with Obi.
    It’s been a tough month. I’m just now making these drafts live.

    Reply

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