We have very exciting news! Carter tested Negative to L1CAM Syndrome! What does that mean? Here's a scientific definition in kindergarten terms: Well, there are ten's of thousands of genes in our bodies. Each gene is connected to one of our many chromosomes. We tested just one of those genes in Carter's body. That was going to tell us if he had L1CAM Syndrome. That is a genetic cause to congenital hydrocephalus. If he did have L1CAM that would mean that I (Mom) had that mutated gene. I would then have the chance to pass it along to 50% of my male children and my female children would have a 50% chance of carrying it and passing it along to her children, because it's attached to the X chromosome. This mutated gene only affects males (giving them hydrocephalus) and the females just carry it. I probably have confused you right?
What does this mean for little Carter?
While its really good news for any future children that the stork may drop off to our home, but it doesn't mean we are any closer to finding out why Carter has Hydro. It ruled out just that one reason, there are hundreds of other causes, or so they think.
HYDRO MOM TIP: If you are interested in more information, we went through the company Gene Dx for our L1CAM test. There isn't much information out there just by searching (atleast that I could understand) but at the bottom of Gene Dx click on "information sheet" for a pretty good explanation.
5 comments:
It is crazy how much our kids mirror each other. Even their baby photos look the same! JP also tested negative for the x-linked hydro. And, he went through wearing DAFOs with the gripper bottom added too :)
Good to see your new pics. Carter is just amazing and looks so healthy and happy. I am so glad for you all. You have come a long way from when we met!
Blessings,
kelly and John Paul and fam
YAY!! What fantastic news!!!
BIG WHEW!! I' so glad you guys were able to get the test and confirm your instincts on L1 disorder.
He looks absolutely terrific and ready to take on the world, just like his mom, dad, and big brother.
Love you guys!
Great blog! We have added you to our blogroll. We blog and are launching a new social networking site for parents of children with special needs. www.knowledgesafari.com
Blog: ksafari.blogspot.com
I found you through Andrea/Rowan's Journey!
Hi! We have two boys (born 2/2006 and 11/2008) with L1CAM-linked congenital hydrocephalies. After our first son was born, Gene Dx tested our son's gene sample for the CRASH/MASA syndrome-causing mutation, and the test proved negative. Gene Dx told us that the margin for error in this test was only 0.1%. Doctors told us that we could go on and get pregnant again and it would be very improbable we would have another baby with same condition.
Our second son's gene sample was tested in Groeningen (The Netherlands) and they found one very tiny mutation in the L1CAM gene, that was not documented before. Our first son carried the same mutation, as it turned out.
I don't mean to put anyone down by telling you this story. I'm only pointing out that gene testing laboratories such as Gene Dx may get their results wrong.
Best regards,
Eric, Tarja and our wonderful boys (Finland)
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