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INTERNATIONAL MOSAIC DOWN SYNDROME ASSOCIATION

Mystery Diagnosis

Meet Tim

Tim was diagnosed with mosaic Down syndrome at 2 1/2 years old

Meet Tim

When Tim was born almost 23 years ago, his physical features of mosaic Down syndrome were very slight. He had big, round, brown eyes and a contagious laugh that would brighten anyone's day.

He crawled at 7 months and sat up at 8 months. This seemed a little delayed compared to his older brother, but because he was 2 months premature, I wasn't too worried at the time.

Throughout Tim's first 2 years of life we constantly battled ear and upper respiratory infections and he had severe Reflux where he had trouble keeping all of his formula and later-milk-down.

I began to worry about Tim's development when he didn't walk well past his first birthday. Finally, with a lot of encouragement, he walked at 17 months old. Another ongoing problem Tim had was his size. He just was not growing normally. He was much smaller than his peers, even with his prematurity.

By the time he was 2 1/2 years old, Tim's speech was very delayed and I became extremely concerned. His vocabulary consisted of 25 single words that only I could understand and he was not putting any words together to make sentences. At this time I insisted that his doctors look further to find out why he was having these delays.

This is when we discovered that he had mosaic Down syndrome. I worried about what all this meant for him, but at the same time I was relieved to know there was a reason for his speech delays. I worked hard to help Tim learn to speak and communicate clearly and my hard work paid off.

Much later, I discovered that Tim had a thyroid problem that is related to mosaic Down syndrome and this was why he was not growing at an average rate. (He weighed 35 pounds and was just approaching 3 foot tall at the age of 10) Since then, he has been on medication to help this problem and although he is only 5'2", at least he has grown that much.

Tim did not require Special Education in school and excelled in reading and writing. He has an IQ of 110 and academically has not problems. In 7th grade he was reading at college level and writing short stories. He is a little immature for his age, but definitely getting there!

Tim is a joy to us all and has taught us that having mosaic Down syndrome isn't a horrible thing, in fact, he says "It's kind of cool to be different!"

Kristy Colvin-IMDSA President & Co-founder and mom to Tim

 

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