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

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.

Category:

People & Blogs

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

[nuttycow1974]

so touching what a beautiful family you have. Is there a site where we can follow Joe's progress?  chairty, facebook or whatever? I wish you well

[sharonrjust]

@nuttycow1974 Thanks to everyone for the nice comments. We have a web-site reserved for sharing info about Joe's 8p condition, but it is not yet set-up. We do plan on posting additional videos on youtube about different areas (walking, eating, teaching, etc.), so the best way to follow his progress would be to "subscribe" using the button at the top of the page, so you'll be notified when those are posted. Thanks for the well wishes.

[jordon1954]

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.

[thornzac]

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...

[AlexPepe48]

Im a 13 year old boy who skateboards and does all the "Manly" things I can possibly think of... This video actually made me cry and it touched my heart. This video made me find out that if you take chances then something great and beautiful can come out of it. This is by far the best video i have ever seen!

[madmanatrakzi]

i loved it. such a touching story, it shows the real value of life.

[wobbin91]

This video made me smile so much, I am a student occupational therapit and i can't wait to smart my work so i can see cases like this :)

[ANAHISGEE]

AWWW THIS MADE ME CRY! :'') WHAT A GREAT MOMMY && DADDY YOU MADE THE RIGHT DECISION , THANK GOD YOUR SON IS ALIVE & GETTING BETTER <3

[DulciaSteffen]

I work with adults like Joe and have a brother with special needs. I am so happy to hear he is doing better than expected and so happy you chose a hard life than no life. <3

[NeverStopAlwaysRock]

This will seem horrible from your point of view..I don't know.Of course,the mother loves the child she will bear.But..does the child live a live worth living?I don't know..So much I don't know.From my,outside point of view,from someone who doesn't have kids yet,I would have aborted tried again or adopted.Of course,the ones without kids know exactly what they would have done with theirs..You're a strong family,but there is no biological reason for it to be like that. Faith?I don't know..Good luck

[linziemhall]

he is such a miracle god must have a plan for him... you are blessed to have such a wonderful child.

[SabarStudios]

My sister has Down Syndrome,

and she is the coolest person I have ever met!

-Judah Hudson

youtube.com/watch?v=LOLQgFvh_x­A

[Mcpell4]

God bless your beautiful family!

[nicciholdstock]

What a beautiful baby xx