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Title:
My Son Joe - Tetrasomy 8p + Mosaic Down Syndrome - Part 1 Disabled Medical/Life
Description:
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 mosaic (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. We were initially told Joe might have Trisomy 13 or Trisomy 18. 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 inspirational 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: A diagnosis is not always a prognosis. If you'd be interested in future Joe videos, hit play and click the "subscribe" button to get auto-notified when we post one.
Author:
sharonrjust
Tags:
Down, Syndrome, Mosaic, Tetrasomy, 8p, Agenesis, of, Corpus, Callosum, Disabled, Child, Heart, Surgery, Hypotonia, Chromosome, Trisomy, 21, 13, 18, Little, Joe, Story, Multiple, Disabilities,
My Son Joe - Tetrasomy 8p + Mosaic Down Syndrome - Part 1 Disabled Medical/Life
Description:
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 mosaic (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. We were initially told Joe might have Trisomy 13 or Trisomy 18. 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 inspirational 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: A diagnosis is not always a prognosis. If you'd be interested in future Joe videos, hit play and click the "subscribe" button to get auto-notified when we post one.
Author:
sharonrjust
Tags:
Down, Syndrome, Mosaic, Tetrasomy, 8p, Agenesis, of, Corpus, Callosum, Disabled, Child, Heart, Surgery, Hypotonia, Chromosome, Trisomy, 21, 13, 18, Little, Joe, Story, Multiple, Disabilities,
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