DAVID'S FIGHT (w/Trisomy 18): Confirmation from the Specialist

Thursday, February 17, 2011

Confirmation from the Specialist

February 17, 2011

Today we were transferred to the pediatric specialists from our mid wife. We went through a thorough sonogram session, met with a genetic counselor, and NICU staff. Emotionally spent.

It was very surreal sitting with doctors talking about our child's death, before we had ever even celebrated his life.

Confirmation came from the doctor "99% sure it's Trisomy 18". He has a defect in his heart, and three other symptoms of the chromosome syndrome. The good news is that he is confident David will be strong enough to survive the full term. We are 20 weeks.

-Aaron's Journal Entry

1 comment:

DonnaFebruary 22, 2011 at 7:54 PM
Hey guys - there are friends praying for you in Fort Worth Texas!

Here is a video for you to see and give you some great encouragement.

http://www.ignitermedia.com/mini-movies/570/99-Balloons

http://www.ninetynineballoons.com/

Love you both!
Donna
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DEFINITION OF TRISOMY 18 (EDWARD'S SYNDROME)

Edwards Syndrome : Edwards Syndrome (Trisomy 18) is a chromosomal abnormality where there is an extra chromosome present in every cell of the body. This is an example of where “the more the merrier” is not true. This extra chromosome means that every cell has extra information encoded into it. The extra information causes confusion in the way that the cells are formed and results in the potential malformation of all of the body systems. Sadly, this condition is considered "not compatible with life". Just like with Down's Syndrome (Trisomy 21), there is a wide range of how this condition will play out (what the doctor's will refer to as your child's phenotype). Unfortunately because there is more information encoded on the 18th chromosome, the severity of this condition is greater than that of Down's Syndrome. Current studies show that while 1:1500 children will be diagnosed prenatally with trisomy 18, only half that number (or 1:3000) will be born alive at full term. Of those who survive to birth, only half will make it to two months of age, and only 10% will survive to their first birthday. Children who live can be an important part of their family and community, but are profoundly developmentally delayed.