[tri-wings] test results/surprising info

I just wanted to share some information we learned from Mieko's geneticist.  
There had been confusion about her chromosome makeup, so we requested further 
tests during her autopsy.  Originally, Mieko was determined to be full trisomy 
18 from the amnio.  About a year and a half ago we requested a blood test to 
confirm.  We never followed-up because other  things became a priority, but on 
her last hospitalization it popped up in her chart that she was mosaic. I 
thought it was a mistake. Her geneticist said ithat a previous blood 
transfusion could have skewed those results.  
The geneticist called me this week to tell me the skin, heart, liver, and lung 
samples showed a mosaic result.  She said Mieko had 70-79% trisomic cells in 
these areas.  Now, this in itself doesn't really mean anything to us.  We 
wouldn't love her any more or less whether full or mosaic or changed her 
treatment in anyway. Here in the Twin Cities, we were fortunate to have great 
care and didn't really have to fight any battles to get what she needed. 

But what really surprised me was what the geneticist said next... she said it's 
possible Mieko was a full T18 at first, but as she grew she shed some of the 
trisomic cells. She said as cells divide, the extra chromosome has nothing to 
pair with.  I've never heard of this before.  The dr. is trying to get some 
more research on this theory.  The other scenario is that they didn't test 
enough cells with the amnio.  She said the tissue/skin samples tested 100 
cells, but the amnio (also skin cells) would've sampled far less.  

So, all of this makes me wonder if parents knew to have more cells tested or 
the possibility of an evolving trisomic makeup, would this alter the kind of 
care our kids would get? I know that mosaicism is rare, but all of this makes 
me wonder if asking the right questions could help children get better care.  
Any thoughts? All of this information plus everything else we're dealing with 
losing Mieko has been overwhelming. I'm not sure what to make of it all, but 
I'm hoping the info may help someone somewhere.


Thanks for listening.

Maya
Mom to Mieko (T18 3/09/04-7/11/08)



      
                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

Other related posts: