At our 20 week ultrasound appointment Wednesday March 31st 2010 (ironically CDH Awareness Day), my husband and I were thrilled to get the news we were having our second girl. That news was quickly overshadowed by the fact that our baby had a serious complication. We were told that our baby had a left-sided congenital diaphragmatic hernia (this happens in one in about every 2,500 births) which means the diaphragm didn't close entirely when it was supposed to and some of the lower organs (in our case; stomach, intestines, and spleen) are up where they shouldn't be. As a result, the lungs wouldn't grow to normal size and our baby was at risk for a laundry list of complications that ended with the statement that she had about a 40-50% chance of survival.
Finley was in the fortunate 50% that survive. It took 19 days to stabilize her for repair surgery and after another 30 days more in the NICU, she was finally able to come home.We thought we knew all the facts and potential ramifications of Finley's CDH, and then out of the blue 3 and a half years after we submitted our genetic samples, we got a call from the DHREAMS coordinator that they had found something. They had found the cause for Finley's CDH.
Finley has a genetic mutation in the WT1 gene. The mutation is the substitution of amino acid arginine for cysteine at position 501 (Arg501Cys). What does this mean?
"Mutations in other regions of the WT1 gene have been associated with syndromic forms of CDH. This means that the children have had other problems outside of the CDH including abnormalities of the kidneys and reproductive organs, increased risk for kidney dysfunction and Wilm’s tumor (a type of kidney tumor)." Dr Wendy Chung. It also means that Finley has a 50% chance of having a child with CDH in the future because she carries 1 copy of this mutated gene.
Finley will now be monitored more closely specifically around her kidney function and to watch for this Wilm's tumor with ultrasounds and other tests every 6 months. We get to add a Geneticist to our list of specialists. And we will continue to pray.
She has already defied odds and expectations and I will continue to expect no less.
Her full story can be found here: www.finleyanabelle.wordpress.com.