It's Genetic

Monday, May 2, 2011

I am needle phobic.  To avoid pricks (at least the kind that get under my skin...that didn't know, the ones that draw blood), I just don't go to the doctor.  But, when you're pregnant, you really have no choice (unless you don't realize you're carrying a watermelon in your gut AND you're constipated AND you haven't taken a trip to the feminine product aisle at CVS in 9 months, like these chicks). 

If you're Jewish, you're subjected to blood testing even before you get pregnant in order to screen for genetic diseases.  When my doctor suggested the testing, I refused.  There is no history of genetic disease in my family or my husband's family and I sure as heck was not going to let Mr. Phlebotomy take 5 vials of my blood.  After some not-so-gentle prodding by my doctor, I reluctantly subjected my little veins to the not-so-gentle prodding at the lab.

A week later, my doc called to inform me I was a carrier of Familial Dysautonomia and since 1 out of 4 Ashkenazi Jews (those of us from eastern Europe...or, the pale Jews) is a carrier of at least 1 of the 19 genetic diseases, it would make sense for my husband to be tested as well.  We did the math and odds were definitely in our favor.  But, 1 in 900 meant nothing when Matt's test came back positive as well. 

Shocked, upset, and scared, we made an appointment with a genetic counselor to learn about our options for having a child without this life-threatening disease.  We narrowed our choices down to either: 1. Gamble (make a fetus, get tested at 12 weeks, hope for the best, and make a difficult decision if need-be), or 2. IVF ($30,000 not covered by insurance, not guaranteed to make a baby, and not for the needle-nervous).  I took my 3 month old to Vegas, so you can probably guess that we decided to press our luck.

It's a basic Punnett Square genetic equation - Mom and Dad each carry 1 recessive gene and the fetus would need to acquire both of these genes to have the disease.  In other words, DD, Dd, dD, dd - 25% chance the fetus would have the disease, 50% chance the fetus would be a carrier just like we are, and 25% change the fetus would not be a carrier of the disease.  Or quite simply, 1 in 4 odds our offspring would have FD.

Sperm+Egg met, EPT showed two blue lines, and the waiting game began.  Twelve long, exhausted, nauseous weeks later, a sample of placenta was removed, and two agonizingly slow weeks after that, we received the call that the fetus was a carrier of the gene, just like Mom and Dad.  Ridiculously big sigh of relief. 

Matt and I like to needle each other and guess who gave Ari his FD gene.  We really don't care.  We are just thankful each and every day that he is perfectly healthy.  (And we hope he will marry a nice Sephardic girl one day - for the genetic assurance, the darker skin pigmentation, and of course, the rice and peas during Passover). 

(On a serious note, thanks for reading.  I hope you will pass this along to friends, relatives, neighbors, clergy, medical professionals, and anyone else who may not know about the genetic screening test.  Or, just "like" this and post on your facebook page to increase awareness.  Thank you.  For more information, please visit Victor Centers for Jewish Genetic Diseases. )


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