Monday, October 21, 2013

October, 2013 Down Syndrome Awareness... Day 14

Today’s story is about a boy named Ephraim. And his mom, Erica.

His mom and I have never met in real life, but that doesn’t stop us from sharing a bond that’s unbreakable… quite remarkable. It's quite special when you share the bond of Christ and Down Syndrome. That's not something I expect everyone to understand and know that probably even sounds silly... but it's unique, unusual, special.

I remember when Erica first learned about the diagnosis and she called me. She was sitting in a parking lot somewhere in Texas and I in my mother's living room. As we were talking, I could feel her strength building.

She donned her proverbial boots and pulled herself up by the straps and has never looked back. She faced the challenge with courage, determination and love.
I know she was frightened and had many concerns, but she trusted the One who sent ‘wee E’ to her heart and today?

Well, today he’s beautiful. Thriving. Wonderful. And so is she.

Thank you for writing for me Erica… you are so special.

Ephraim was diagnosed with Mosaic Down Syndrome when he was ten weeks old. What is MDS? It's the most rare form of Down Syndrome, affecting only 1% of people with DS. It means that all of Ephraim's cells do NOT have the extra chromosome. Some have 46 like they "should" and some have 47.

I joke that God chose MDS for E just for me. I am a control freak and planner, I dislike surprises and want to know what is going to happen. His heart doctor used to say "Mr E is a mystery". With MDS you can't be certain how the "cards fell". Some people with MDS don't have the physical characteristics of DS but might have trouble with cognitive delays. OR the opposite can be true, they excel in school but maybe they have physical characteristics. There are people out in the world who have MDS but don't know it. Maybe they just needed extra help in math and had a hole in their heart, but nothing to raise a red flag and get doctors to run a genetic test.

I feel odd stating all these facts, but MDS sort of flies under the radar. Now to get to the more personal stuff. Ephraim's diagnosis has been nothing but a blessing. Can it be hard sometimes? YES! When he was younger, it was tough to see friend's babies hitting milestones like they should and E falling behind more and more.

But you know what!?!

It made the victory that much sweeter. When he FINALLY ate off of a spoon, I cried. While you friends of Susan don't know me, my friends know I am NOT one to cry at things. It was a huge deal. We worked so hard and for so long it was just awesome when it happened.

Ephraim is just 3.5 yrs old but so much has happened in that short amount of time. Awesome things, scary things, sad things, but most importantly GROWTH. Not just for E or me, but for those who surround us.

Ephraim attends preschool this year and he loves it. He speech is exploding. I love watching him do things I wasn't sure he would be able to do. Small things like walking in line correctly, sitting and doing his work, playing and interacting with his friends and teachers.

Three years ago, when I thought of the future I was afraid of not knowing what was coming next. Now (while I am still a planner/control freak haha), I am excited. Excited to see how E grows and the things he blows my mind with AND excited to see how I grow and change as well.

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