Google+ Bree Bronson's Babies: The genetic roulette

Saturday, May 11, 2013

The genetic roulette

My cousin had a son about a year ago. (We're actually second cousins, our grandmothers are sisters.) As the boy started to grow the doctors soon noticed that everything wasn't like it should. The boy's muscles were extremely weak. Now, as he's about to turn one, he can't still even hold his head up. After some tests they found out that the little guy suffers from a difficult form of Pelizaeus-Merzbacher Disease (PMD). PMD is a genetic disease that causes muscle weakness in various levels and mental retardness as well. My cousin's son is not likely to learn to walk, although his prognose is unclear as his version of the gene mutation is unknown to science from before. Further tests showed that the disease has made its way to the boy in the X-chromosomes of his mom and grandmother. (Girls will not get ill although they may be carriers as their healthy X-chromosome backs up for the damaged one). So what does this have to do with anything here? Well, remember: I'm pregnant.

Mother didn't have her happy face on when we stopped by with the kids. She had called me and asked if we could come over to say hello to her cousin who had popped in. After hugging my godparents I already knew what I was about to hear: it's positive. It's not only the sick boy and my second cousin who carry the mutated gene, Mother's cousin has it too. So her mother may have it, her grandmother may have had it. That means that my grandmother may have it, Mother may have it, I may have it, the baby may have it. Even Daughter may have it. Son is clean as he would be ill if his X would be damaged. The regards to me from the gene lab weren't too cheerful: contact the hospital immediately. You need to be tested before you're 24 weeks pregnant. My count now is 20.

I started to calculate the odds. We're actually rather well off although we still know quite little. The gene mutation may have started from Mother's cousin or her mother. In that case we would be safe. Husband counted (an engineer, what can you do...) that in case my great grandmother carried the mutated gene our baby has a 6 % chance of being a carrier. I counted that in case I'm a carrier both Son, my uncle and my granduncle have won a jackpot in this roulette. They've had a 50-50 chance of getting ill, all of them are fine. So far there's only this one little boy who's become ill. The odds of being a carrier are always 50-50 if the mother is a carrier. And girls will not get ill. I'm suddenly hoping for a girl really badly.

Next morning I phoned the hospital right away in the morning. They weren't exactly helpful. After some persuasion they agreed though to consider my case on a meeting on Monday afternoon - if my second cousin would let them to inspect her son's papers (since he's the only one who's ill so far). Of course she did, she's the sweetest lady on earth. Now I need to phone the hospital again on Tuesday, after one more week has passed, to find out if they will inspect me. And if they don't? I have no clue. The worst case scenario I'm thinking of now is that I will need to decide whether to continue the pregnancy without any further information. I would probably take my chances. At the same time I'm too afraid of thinking of having an ill baby as our third child. I couldn't make it. I know today that if I'll be told that our baby is ill I will get an abortion. Although it will be my toughest decision ever.

On Monday we will also have a routine ultrasound check. What a coincidence. We will probably find out if we're expecting a boy or a girl. Happy Mothers' Day to everyone - I'm trying to say this without sarcasm because it isn't helping.


  1. I hope you got good news the hospital!
    I used to think that I wouldn't have an abortion no matter what. But since my friend had a son with Down Syndrome and having learned all that it carries with it, I have come to understand that sometimes it is a better option.

    1. I've always been pro-choice but making that choice for real was extremely difficult after all. Gladly I didn't have to put that choice into action. I still don't know what would have been the right thing to do. I guess what I learned is that there are really no right or wrong answers.


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