MOSAIC MOMENTS

Yesterday, I got a message from Sharon about her son Joe. The message included a video that showed their beautiful little boy and explained their story.

This is not your ordinary story about mosaic Down syndrome or Down syndrome! As a firm believer of “Everyone Has A Story” I was interested in hearing about this family. If no one else in the world had a story, this family does! This inspirational message will impact you down to the tips of your toes!

Before we begin, I have to give you a little “Genetics 101″….

When a person has mosaic Down syndrome, a percentage of their cells have a third copy of the 21st chromosome. (trisomy 21) In most cases, the story stops here. However, there are some cases where the “extra” cells….the ones that don’t have the third 21st chromosome…have something else in another chromosome area.

I have seen cases such as these and each time a different chromosome is affected. I have also seen cases where a person has a percentage of trisomy 21, a percentage of another affected chromosome and a remaining percentage of chromosomes that are not affected.

How does this affect the individual?

It depends on each individual and what chromosomes are affected, how many, where they are located, and what God has in mind….

In Joe’s case, he has a percentage of cells that have the extra 21st chromosome, so that is his part of having mosaic Down syndrome. However, he also has a percentage of cells that have Tetrasomy 8p. So this is his mosaic tetrasomy 8p part.

Because mosaic tetrasomy 8p is rare, I had to do some studying up on it. I found from the “Wrong Diagnosis”site that mosaic tetrasomy 8p is: “A rare chromosomal disorder where a part of the short arm of chromosome 8 is repeated four times in some of the body’s cells instead of the normal two resulting in various abnormalities. You can click here for the symptoms they list connected with this chromosome disorder.

Join me as we find out all about Joe and be sure to watch his video after the story! What a fantastic message for everyone to hear!

Special Thanks to Sharon for sharing her sweet boy with us!

Our son Joseph was born in 2003 with Tetrasomy 8p an extremely rare genetic condition (only 13 cases worldwide) impacting Chromosome 8. All previously reported Tetrasomy 8p cases were mixed with normal cells. However, Joe has Tetrasomy 8p mixed with Down Syndrome (Trisomy 21). He is therefore the only person ever reported worldwide to have both of these conditions together. Mosaic genetic conditions are rare. For example, only 2 to 3% of people with Down Syndrome have mosaic Down Syndrome. Most web sites discussing mosaic Down Syndrome assume the mosaicism is with normal cells - not a second chromosomal issue. Mosaicism can sometimes lessen the impact of a genetic condition, due to the presence of normal cells. However, in Joe’s case, he has no normal cells. Joe has had other medical issues, including agenesis of the corpus callosum, heart surgery, and fundoplication surgery. We will be uploading other videos on how he was taught to eat and walk. The enclosed video (Part 1) is the story of his life from birth to age 5. His story is a message of hope to those who may be struggling with a prenatal diagnosis - especially for rare conditions and multiple disabilities.

The Little Joe Story.

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