Thursday, July 18, 2013

Found 2nd Mutation

So, after Macy was diagnosed with Fanconi Anemia we started doing gene sequencing to find out the specific mutation that Macy got from me and from Adam. At the time only one was found. The one she inherited from me. That was all we needed to do PGD for the twins because they do a DNA linkage to test the embryos. They confirm my mutation, and for Adam they figure out what FANC-A gene copy Macy inherited, and detect the linked DNA markers that are associated with the FANC-A gene. Its like DNA fingerprinting.  This is used to determine the gene copy of each embryo (mutated or normal).

However, we still wanted to know what the other mutation was for many reasons. One, incase there are any gene therapy trials in the future or if they ever find a cure it would be important information to know what 2 specific mutations she has. Knowing also allows anyone in Adam's family to be tested if they want to know if they are a carrier or not. There are also certain mutations that make you more prone to certain complications, etc.

So we joined up with the National Cancer Institute out of the National Institute of Health and they sent Adam and Macy's blood samples in for specialized testing. They called today and said they were able to find the 2nd mutation in Macy that matched the one that Adam carries. My mutation is a mutation on the FANC-A gene. Adams mutation is a large deletion of part of the gene itself. This is important to know because in genetics; if they ever find a cure; more than likely it will be from finding a way to fix the gene by adding something to a deletion. We were told that it is much easier to add something to a gene that is missing, than to fix a mutated one.

This is also important to know so when the twins are born we can confirm their FA free status by sending their blood in to be tested for our 2 specific mutations instead of having to do a chromosome breakage test. 

In other news, I know most people know already but incase you missed it; we found out both of our twins are boys!!!  We are excited!!  They are both doing great so far. Twin A measuring 1 day big and Twin B measuring 4 days big!  They have been measuring 3 days apart since I was 8 weeks so they are growing very consistently so far!  Both of my placentas are in front so my Dr said that may pose a challenge for my c-section. I have to have a c-section in order for the cord blood to be collected from both babies for Macy. If they have to cut through the placentas to get to the babies I will lose a ton of blood and there is a good chance I would need a blood transfusion. However, my Dr is going to try and prevent this by upping my iron a lot before delivery. I'm not too worried about it. As long as the babies are safe and they get that cord blood; that's what's most important. 

I hope everyone is having a great summer!  We are off minivan shopping soon!!

Take care


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