[tri-wings] An inspiring story

Hello everyone,
 
Recently I have been talking with a family that received a positive amnio  
result at 18 weeks for Mosaic T13 in their little boy, after two abnormal quad  
screens. All ultrasound testing was completely normal and there were no 
markers  seen in any of the high level ultrasounds, yet they were counseled to 
terminate  the pregnancy. After much thought and prayer, they chose not to. 
 
Samuel was born July 17 at 34 weeks. Mom did have polyhydramnios (too much  
water) which they think caused the premature birth, and could be a sign of T13. 
 He needed ventilator support for a short time and assistance with feedings. 
He  weighed 4 lbs 13 oz and continued to progress. Doctors felt he had low set 
ears,  but the pictures I saw did not look like it to me. He did not appear 
to have the  typical features associated with T13. Testing was done on both the 
placenta and  the baby, although the doctors did not do the rapid FISH 
testing. Over a week  and a half later the placenta test came back negative for 
T13. 
The geneticist  told the family that most likely meant that the baby had the 
mosaicism, and not  just the placenta as was hoped. Today the Samuel's results 
came back. 
 
NEGATIVE, normal male 46XY.
 
Perhaps a miracle, but definitely a story of hope and faith in the midst of  
a devastating diagnosis. Samuel's parents are thrilled, shocked, scared, 
upset,  relieved and everything you could imagine. They do not know yet if it 
was a 
lab  error, but with the abnormal quad screens it is unlikely that it was. It 
could  be a case of cellular rescue, something that is very rare and unusual 
and as of  yet, very unstudied but known to be a possibility. Basically, the 
body "rescues"  itself by not duplicating the abnormal cells any further. The 
mechanism is not  known, but maybe someday, more will be known and this process 
could be utilized  to save other children. I just thought you all would like 
to hear about a  positive thing, even a miraculous thing that happened to a 
family who decided to  hope for the best, and were so blessed to receive the 
best. Something, I am  sure, we all hoped for and for me at least, now see that 
we were right in  knowing that sometimes miracles do happen and even though we 
did not get that  miracle, we received the miracles we did get for a little 
while, our precious  angels. 
 
To see Samuel and read about him and his family go to : 
_http://www.samuelsspace.com_ (http://www.samuelsspace.com) 
 
 
Bess

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

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