My Disabled Son Joe - Tetrasomy 8p + Mosaic Down Syndrome - Part 1 - Medical/Life

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13 18 21 8p Agenesis Callosum Children Chromosome Corpus Disabilities Disabled Down Heart Hypotonia Joe Little Mosaic Multiple Of Stories Surgery Syndrome Tetrasomy Trisomy
sharonrjust
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    sharonrjust
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  • Added: 12-Oct-08

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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My Disabled Son Joe - Tetrasomy 8p + Mosaic Down Syndrome - Part 1 - Medical/Life

15 Comments | Add Comment
  • Amazing... ...

    Amazing... absolutely amazing

    By ranmik3 [Affiliate User] 1225212934 Reply Spam Moderate Up Moderate Down
  • What a Blessing ...

    What a Blessing from God and Miracle of God. May God continue to Bless Joe and your family. God Bless you!

    By sharlo64 [Affiliate User] 1224954707 Reply Spam Moderate Up Moderate Down
  • I loved seeing your ...

    I loved seeing your little boy!
    He has the most gorgeous eyes and smile.

    By jules6385 [Affiliate User] 1224855036 Reply Spam Moderate Up Moderate Down
  • God is so Great! I ...

    God is so Great! I look forward to other videos.

    By ecrews110 [Affiliate User] 1224599833 Reply Spam Moderate Up Moderate Down
  • Great video - I saw ...

    Great video - I saw your link on the unique group. my daugter has a rare condition too.
    Thank you for sharing xxx

    By M2AG03 [Affiliate User] 1224536245 Reply Spam Moderate Up Moderate Down
  • Thanks for sharing! ...

    Thanks for sharing!
    I was on the houseboat with you too this weekend, but I didn't get to meet you - thanks for sharing your little blessing with all of us!
    Lisa

    By wldawgs [Affiliate User] 1224533567 Reply Spam Moderate Up Moderate Down
  • he is perfect!! A ...

    he is perfect!! A real gift from God!

    By raccoonqueen2001 [Affiliate User] 1224452487 Reply Spam Moderate Up Moderate Down
  • wonderful video! ...

    wonderful video! your son is quite a fighter and i'm sure you are sooo proud of him! you are a great mother!

    By Katiezieg246 [Affiliate User] 1224449524 Reply Spam Moderate Up Moderate Down
  • Sharon, I met you ...

    Sharon,
    I met you on the FOCUS houseboat yesterday. Thank you for sending the link to Joe's video. You are an amazing family and may GOD continue to bless you and your family. Keep fighting for that temperature controlled school-bus for Joe. I look forward to more of Joe's video's.
    Martie B.

    By edobkm [Affiliate User] 1224429729 Reply Spam Moderate Up Moderate Down
  • His smile will melt ...

    His smile will melt MANY hearts. He's precious.

    By WeirdGirlCyndi [Affiliate User] 1224360461 Reply Spam Moderate Up Moderate Down
  • What a beautiful ...

    What a beautiful strong little man!! Thank you so much for sharing him with us!!

    By Krissy12052 [Affiliate User] 1224333067 Reply Spam Moderate Up Moderate Down
  • Thank you for ...

    Thank you for making this beautiful video. The love in your family really shines through. It is love and hope and prayer that brings us through. My niece has a son with a similar-type rare condition, PKS. I cried all the way through.

    By rahmama2 [Affiliate User] 1224317710 Reply Spam Moderate Up Moderate Down
  • Great video, great ...

    Great video, great message, Fabulous child. What a blessing you all have.

    Side note, let the pictures show just a bit longer (maybe a second or half second) I had to keep pausing to really see the beautiful pictures!

    By thepreschooltest [Affiliate User] 1224289309 Reply Spam Moderate Up Moderate Down
  • Joe didn't take his ...

    Joe didn't take his first steps till age 5. Even when he was 4 yrs 10 mo old, it was unclear whether he'd ever "get" L/R motion - then it "suddenly" snapped into place (after 2 years of treadmill work) - in a 4 week period. We'll be adding a video about that - use subscribe button if you want to be auto-notified when it's eventually posted.

    By sharonrjust [Affiliate User] 1224279003 Reply Spam Moderate Up Moderate Down
  • I pray my son will ...

    I pray my son will walk one day. He has Pallister-Killian Syndrome. He is almost 4. It too was a gloomy prognosis, but Simon (simonpeters org) is quite healthy, although not doing as well with physical activity. I never give up hope. I love your last statement "A diagnosis is not a prognosis". SO TRUE! I wrote this one: "Hope Writes Its Own Story". God bless all of you! Thank you for trusting in HIM!

    By gertyp [Affiliate User] 1224278613 Reply Spam Moderate Up Moderate Down
15 Comments | Add Comment