I am a Fragile X carrier. I learned that Oliver had a "full mutation" of the gene or that he was fully "affected" about a week and a half after he was born. Realizing that now two of my four children had Fragile X and would required special care throughout their lives, David and I both felt that the idea of trying to conceive another child was not wise.
Still my heart ached. I had always thought I would have a large family, and I had hoped for more children.
When we took the boys to the geneticist I told her my feelings. She suggested I visit with a specialist who was in town that very day from Salt Lake. That was the first time I really explored PGD or Preimplantation Genetic Diagnosis.
Basically, PGD is when doctors determine which embryos are affected with Fragile X, remove them, and then implant an embryo that is unaffected. I know, it sounds sci-fi. But it gave me some hope. Could I really have another child, or two, and guarantee (98% success rate) that the child would not have Fragile x? Could Ethan and Nataleigh have the benefit of other siblings not affected?
We met with a fertilization doctor who specializes in PGD. After a lengthy consultation, he ordered a blood test which was the first step in the process. The Anti-Mullerian Hormone (AMF) test is thought to reflect the size of the remaining egg supply or "ovarian reserve". There are a lot of steps in the PGD procedure. The more eggs that can be harvested, the better.
The last words the doctor said as I was leaving the hospital, referring to the results of the AMF test was, "A '1' is good; .4 is okay, .1 is really difficult."
My result was .08.
I am clearly below the lowest possible option. When the doctor called with the results he said there was really no point in proceeding with our initial plan. My ovarian reserve, or egg supply, was too low. (He did encouraged us to look at the option of egg donation, but that's not something we want to pursue.)
I have to admit I was disappointed. But, I also felt peace. Now I know, this is my family. I'm glad we explored the option--especially when we did. It's really hard to believe that at 35 my child bearing years are over. Period.
Still, I fell like now I can really enjoy Oliver as my last baby. It makes late night feedings, stinky diapers, and fussy spells more tolerable. It forces me to stop what I am doing and focus on what matters most.
I am extremely grateful for my four children. They are each unique; each requiring special attention. I thank Heavenly Father for my complete family.
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