Trisomy 9 mosaic.. What’s that?

As I will write quite a bit about my son it might be good for you to know some more about him.

He’s born in February 2013 diagnosed with a rare chromosome disorder called trisomy 9 mosaic – there are about one hundred others similar to him out there in the world. Now I’ll try to keep this basic for simplicity.. So. Chromosomes are the master plan with all the info needed to form us psychically and mentally correct and – We have 22 of them formed as pair with one from your father and another from your mother. (sometimes this could also differ and that’s called disomy) plus a X and Y pair (if you’re a boy that is). They sorted by size, so the biggest pair is called nr 1 and the smallest 22.

Williams chromosome number nine isn’t a pair, they’re three. Trisomy. So something at some point in a very early stage of him being formed went wrong..

the tiny third..

the tiny third..

William also has something called a mosaic disorder – that means that not all cells in his body has the defect. You can measure this in different places of the body and get different counts but most common is that you take a sample of blood and count that. I think they counted around 40-50 cells and saw that around 30% of those had the trisomy defect and therefore 70% of his blood cells has normal chromosomes.

If he had 100% he wouldn’t be with us today.

Some of you might have heard of trisomy before and the most common version is called trisomy 21 (full or mosaic) and the more common name for that is Down Syndrome.

And here’s a shot of William from his first week alive on my arm.

Born 5 week early at 1550g

the 7th of February in 2013 William, or at the time, Bruce Lee, was born five weeks early at 1550g

Now I’m writing this with William sleeping beside me and I think he’s about to wake up. So, lets call this chapter one. Chapter #2 is out!

About Carl Rytterfalk

Welcome to my blog! I'm Carl Rytterfalk, a swedish photographer who loves everything that is interesting in the world of photography. In 2002 I fell in love with the three layered Foveon sensor and has since then been an addicted user of Sigma cameras. Though I use Canon and Nikon as well. :)
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4 Responses to Trisomy 9 mosaic.. What’s that?

  1. xiao says:

    best wish for your son

  2. AJ says:

    Hi Carl,
    I too gave birth to a little boy with Trisomy 9 Mosaic, in June 2014 in Sydney Australia. Your story sounds remarkably similar to mine! My baby boy was also diagnosed with this very rare trisomy post birth via genetic testing. He was born small (2.1kg at 38 weeks), was not very active in utero and was on CPAP from birth.
    Sadly, my darling baby boy passed away just after Christmas 2014. He was just 6 months old. He too, was unique, precious and beautiful. I look forward to reading more of your updates Carl; as your little William progresses. He is a gorgeous baby and I wish you all the very best of luck.

    • Kathy says:

      AJ I am so sorry to read about your son’s passing. I know Carl through a family support group on FB. When ever we loose one of our kids to becoming what we term ‘angel babies’ all of our hearts break. The group now has 150+ kids represented all over the world. We only have 7 angel babies in the group but the parents always remain part of our family. If you want to become part of the group or if you would like to join with a few of the parents that lost their child to a complication of T9M let either Karl or I know. Know that we support you even if we are all in different parts of the world (I live in the US)

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