As a kid I thought I knew how it worked; you grew up, you got married and you simply decided how many kids you wanted to have and when you would have them....easy peasy! And that plan worked pretty good for awhile. I grew up, I got married, and after being married for around four years, my hubby and I decided to have a baby. I stopped taking my birth control pills, and four days later -- voila! I got pregnant! (I know exactly when it was, too, because at the time my hubby was working out of town and only came home on Wednesdays... :) )
My perfect little life plan was working just fine until some routine pregnancy blood work revealed that I was a carrier for the Cystic Fibrosis (CF) gene mutation F508. (Which, if I correctly understand what my genetic counselor told me, of the known 36 mutations, the F508 causes the worst form of this disease.) I was totally suprised to receive that phone call from a genetic counselor. Cystic Fibrosis? What in the world was that? My genetic counselor was very quick to tell me not to worry, it would only be a concern if my husband were also a carrier, because fortunately the CF mutation is a recessive gene. So we quickly got him in for a blood test. Well -- as fate would have it, my hubby is also a carrier of the same F508 mutation (also the worst one...hooray! If you are going to read this blog, I hope you can infer the sarcasm...). So what did that mean for the baby I was already carrying? That meant that he/she had a 25% chance of being completely unaffected, 50% chance of being a carrier (but healthy, like us) and 25% of being born with a disease that would most likely kill him/her before he\she reached the age of 7. And every child we conceived would face the same odds. I put that in bold, because that is how that news felt: a big, bold truth that was crushing my perfect life plan.
Our next step was to do amniocentesis, so we would know whether or not our baby would have this disease or not. (Many people sadly, do this so they can abort an affected fetus. For us, abortion was NEVER an option, we just wanted to know what we would be facing so we could prepare.) During the agonizing FOUR WEEKS (!!) it took them to get the results back to us, I did a ton of research to learn all I could about Cystic Fibrosis. It was then that I came across some information about a revolutionary breakthrough called Preimplantation Genetic Diagnosis, or PGD. I read that people were using PGD in conjunction with InVitro Fertilization (IVF) to conceive children that would not be affected by single-gene defects, such as CF. About that time we received news that our unborn daughter (a girl for sure...I was given a copy of her karotype clearly showing XX chromosomes!!) was also a carrier for the F508 CF mutation, but would be healthly just like us. With that happy news, I tucked all my CF/PGD information away in a file and focused on preparing to become a new mommy!
Fast forward a few years....our daughter, Delia, was a happy and healthly two-year-old, and I was starting to really want another child. I now knew that our family would never be large, but I NEVER wanted Delia to be an only child. But now that I was painfully aware of our carrier status for the F508 CF mutation and had knowledge of what having that awful disease would mean for a future child, there was no way this mommy was going to throw caution to the wind, hope for the best and just get pregnant. (In fact, I carried my birth control pills with me in my knapsack, and set my cell phone alarm to tell me to take one so I would take it at exactly the same time each day. And if for some reason I was even ten minutes late taking it, my hubby knew not to even think about having sex, because I was terrified of an accidental pregnancy.) So out came my IVF/PGD file, and I started doing what I do best -- internet research.
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