Genetic Appt

Well yesterday we had our genetic counselor appt at UofM. I got into work and my anxiety was at all time high. I hardly ate, was very nervous and actually was shaking.

Well we walked back into the hospital that 6 months ago that day left, with empty arms. That day exactly 6 months ago was the hardest day of my life. I was wheel chaired out with just a memory box of my daughter. I remember the nurse hand on my shoulder telling me this is the hardest part, is leaving the hospital. I chocked back the tears and left the hospital, a day I will never forget.

Back to the appt....

Honestly the appt didn't really give me any new information. Addison had a form of Fetal Akinesia Sequence, which means a lack of movement in baby which in turn causes problems and abnormalities in the baby. (http://radiopaedia.org/articles/fetal-akinesia-sequence) So as I explained before, she had joint contractures, hydrops (fluid around heart, lungs, under her skin and eventually in her belly), little movement not only from her limbs but breathing and swallowing which caused the polyhydramnios in me and IGUR. But of course there are about 350 different types of Fetal Akinesia Sequence (FAS) and alot of time babies don't have the same exact abnormalities. There are recessive gene testing that they can do for Carl and I. Which basically looks at our genes and see if were the carriers for a specific mutated gene that might cause a specific type of FAS? But this is not always genetic it could be just a complete fluke, something that happen during cell division. She was sick very early on, signs starting showing at 11 weeks with the cystic hygroma that she developed. But if it is genetic it gives us a 25% chance of recurrence. Then it gives a Brent or other children a 50% chance of being the carrier of the mutated gene. But both Mom and Dad have to have the specific mutated gene for it to be able to affect the baby. As for now we have to see if our insurance company will cover the gene testing, which will test 77 different type of genes that are similar to Addisons findings. Also because we never did an autopsy on her they were only going off the ultrasounds we had while pregnant still. Our hope it was a complete fluke which in recurrence is pretty much nothing. But because we don't know very much they couldn't even give us a percentage of it happening again in future pregnancies.

The appt overall was good the genetic counselor said "Addison was her name right" and I could feel my whole face light up. Alot of times Dr's won't refer a baby that died before by name, other then fetus or baby. So when they talked about her and were referring her by name it was so nice. It gave some more information to Carl on why Addison developed fetal hydrops, which I already new. I remember reading a quote one day "A worried Mom does more research then a FBI agent", and I can defiantly contend to that. I knew all the words she was referring to, at times I was completing her sentence, and I could tell she knew what I was talking about. I am overall happy I went to the appt just because YES there is recessive gene testing we can do. Also they were so helpful and willing to help as much as possible. They said to keep calling in if insurance doesn’t cover it because they foresee prices of gene testing to go from in the thousands to the hundreds with technology. The thing about our situation is that it is fairly rare in about 1 in 3000 births so it's something that doesn't get researched alot.