Sunday, June 7, 2015

Trisomy 9 Mosaic - An update on the facts

Attached is a link to the latest hot-off-the-press research that has been undertaken around Trisomy 9 Mosaic! It's just incredible to have this research, given the extreme rareness of this chromosomal condition worldwide.

The analysis is certainly more concrete than any one doctor can tell any of us with T9M kids, as most will never have supported a T9M patient, let alone met one. Sure there are similarities across trisomy kids at a general level (for example, global development delay (GDD) would be one of them), but there are also distinct differences based on which chromosome(s) are affected, and this because different chromosomes (23 pairs) play greater and lesser roles with different organs, skin tissue etc etc.

Given that there are now about 150 known T9m cases worldwide though, it's a pity that this study is so small in numbers, but it's a start! Nate is included within here and will continue to be over time. It's quite time consuming to be part of this study (which is I am sure why many Mums and Dads opt out - hard work managing to fit all this other stuff in), but we think it's super important for families to come, and also to help us understand the potential for Nate as he grows ie what to watch for, what to strive for, what's possible, and so on. Warn you now though it's a full on read for the more seriously seriously seriously interested......:-)

Click here to read the article

And here are some recent photos of some of Nate's T9M global brothers and sisters....

Kara, UK, born 1994
Gia, California, born 2010
Jacina, USA, born 2013
Dixie, Leeds UK, born 2014
Liv, born 2011
Lenny-Rose, USA, born 2013
Margherita, Italy, born 2013
Ella, Norway, born 2013
Sara Elizabeth, Connecticut, USA, born 2013
Grady, New York, USA, born 2011
Rachael, Texas, USA, born 2011
Aidan, Missouri, USA, born 1997

 

 

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