My Son Joe - Tetrasomy 8p + Mosaic Down Syndrome - Part 1 Disabled Medical/Life
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Uploaded on Oct 12, 2008
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.
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Pierre van der Westhuizen
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Top Comments
jordon1954 2 years ago
hi, im about to become a father for the third time, my son Joshua is due in april 2011. Doctors about a mth ago said he has Trisomy 9 mosaic & due to his quality of life we should have an abortion, Such is that I am his dad, I love him already, he's a gift, just like the others I have. I look forward in what challenges & love we will gain in our life. God Bless you all, Thankyou for the video.
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thornzac 2 years ago
i was very inspired and cried a river while watching this video...it's not a cry of grief but joy....i admire the courage of the young joe and his parents...may God bless you all...i have a down syndrome baby too and i just realized that me and my baby's adventure has just began..we have a long way to go...unlike joe here who come a long way already and still fighting....i love you sweetie...
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All Comments (219)
mariza garcia 1 week ago
Beautiful baby God bless you
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pamela judd 2 weeks ago
Beautiful story, beautiful family,love to you all
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Mindy Iacovelli 1 month ago
Wow what amazing touching story. Thank you so much for sharing your journey. Joe is truly an inspiration to us all. How is Joe doing?
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Karrie B 2 months ago
Namaste' Thank You for Sharing the Beauty.......and Awe...... in the Light a child Brings to those they touch
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DaMamaDory 4 months ago
Thank you so much for sharing the journey so far, of your gorgeous son! He melts my heart. God bless you all.
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gmc1960ful 4 months ago
What a sweetheart!!!
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LeahLovesLaguna 5 months ago
oh my gosh 5:18 and 6:01 are absolutely awe inspiring! he is truly amazing and you should be so proud. you truly have an incredible story and a beautiful family!
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Emel Civan 6 months ago
I cried a river.. What an inspring video.... God bless you all..
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Kari Kidd 6 months ago
Thank you so much for sharing your story <3 My 4 yr old daughter was born with Mosaic Down Syndrome and there have been some challenges but there have been a lot more of the happy and proud moments as well. Lily touches everyone she comes into contact with and it just amazes me how strangers just fall instantly "head over heels" for my baby girl :) its a unique club we are in and I wouldnt go back and change one moment of it. God bless you Joe and Family!! Love The Kidd's from Florida
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