I wasn't too sure where to put this as it involves IVF/PGD as well.
Some of you may remember a while back a thread I started about my chances of being a carrier of Muscular Dystrophy. My Uncle has the disease and my Dad is a carrier (although does not suffer from the illness). That gives me a 50% chance of also being a carrier which could in turn affect my baby should he be a boy.
My families strand of MD is call Scapuloperoneal Dystrophy which primarily affects the calf and shoulder muscles - with progressive weakness and wasting. It is an extreamly rare form of MD and there hasn't been much research on this particular strand. They have, however, identified where the defect lies on the chomosome thanks to the testing my Uncle has undertaken. This form of MD is late onset - meaning that it doesn't not affect a person until later in life (my uncle didn't show signs until he was 30-35). The illness can only be passed on by females to male children, however any carrier can pass the gene onto male or female children. Hence, it is possible that my Dad has passed on the defective gene to me - however, I cannot get sick from it but I can pass it on to a male child who is at high risk of being affected by MD.
DH and I made the decision months ago that should it be proven that I am a carrier we will will undergo IVF and PGD in order to avoid passing on this horrible condition. This means either using gender selection and choosing a girl or using other testing to identify which embryos carry the gene.
I was all set to go for my tests when I was diagnosed with endometriosis and booked in for a laparoscopy. Now that the lap is behind me it is time to move on to the next stage of "pre-TTC" by going for my blood test to see if I am a carrier.
I will be visiting my GYN in the New Year where I will be referred to a genetic counsellor for testing. DH will also have some tests done as he is a carrier for Haemocromotosis. I have also been tested for Haemocromotosis which came up negative. Once we have both been tested we will have a much clearer picture of where we stand when it comes to our genetics and future TTC plans.
I am a little bit worried but I was far more worried about my endo diagnosis. I know that whatever the outcome with our tests, we will still be able to have a baby. It will just be a little bit harder if I am a carrier.
I appreciate everyone who has previously supported me when I have raised concerns about this. It has really helped me to be more calm and relaxed about it now.
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