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

by , on
Jun 11, 2013

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.

In her own time

by , on
Jun 11, 2013

When you have a preemie, the one thing you hear a lot is “in her own time.” As in “she’ll start nursing in her own time.”, or “she’ll smile in her own time”, or “she’ll make I contact in her own time”, or “she’ll have alert periods in her own time”…you see where this is going.

Obi wasn’t acting like a ‘typical’ newborn. She was slow to gain weight, could latch to nurse, but couldn’t transfer enough milk to make a meal. You had to wake her up to feed her at term, 2 weeks past term, two months past term. She wasn’t smiling at 4 weeks corrected, 8 weeks corrected, 12 weeks corrected. She didn’t make eye contact. She didn’t follow sounds. She wasn’t doing things in her own time (own time my ASS I wanted to tell everyone who tried to convince me to just wait it out)…she wasn’t progressing at all.

So, like every crazed sleep deprived woman who spends hours on her own watching a sleeping baby willing her to wake up, I turned to Dr. Google. Now, I am not suggesting this is an activity which is good for your health or your sanity. There is some crazy scary shit out there. But I needed to find some sort of explanation, however unlikely. However crazy sounding. However unpleasant for me.

I came up with a short list of conditions that fit with her behaviour and, on March 26 went to doc to discuss the possibility that “In her own time” was not the whole story. I believed there was more to it and at that appointment, the doc agreed. She felt that Obi had some ‘soft markers’ and perhaps digging a little deeper would be a wise course of action. She didn’t necessarily agree with the top idea on my list, but marked it down and suggested casting a wider net. We were referred to genetics and were sent for a few other tests as well.

Finally, I thought, we’ll get some answers. I am the kind of person who believes knowing is better than not knowing. Even when knowing changes everything.

The Makings of MommyDo

by , on
Dec 28, 2011

This is a two-part story.

The first part answers the question, why MommyDo? My just over 2-year-old boy often carries over whatever object he’s trying to figure out, plops it on my laps and cries “MommyDo”. So I show him how to do/move/make go/turn on/turn off the thing that is causing him great distress. And then I find I’m not called upon again for that particular task. I know, before too long, he’ll have figured just about everything out and I won’t hear that little phrase anymore.  I truly love being the answer to all his troubles and wanted to mark this moment in time.

The second part answers what does MommyDo do? Aside from blowing my boy’s mind with being able to make a whatsit whistle, I find myself, more and more, doing what I stereotypically believed Mommies did.

I’m learning to sew. I knit up some Christmas presents. I cook. I bake. I take pictures to preserve fleeting moments. I try to decorate. I battle clutter. I wage war with our money pit house. I parent with my spouse. I buy and wrap a seemingly endless parade of presents for birthdays. I balance my love of gizmos with my desire for a simpler life. I work full-time. I try to remind myself that the perfect household isn’t real. I do what all Mommies do. I do the best I can.

I’m certain I’m also guilty of a mountain of MommyDon’ts. Come along for the ride and I promise to spill about those too.

Just got a new camera today. Battery is charging now so I haven’t tried it out yet. In the next post I’ll tell you my “fresh out of the box” feelings about it. And share some snappy photo’s too.

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