Muscular Dystrophy - Genetic Testing

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.

Amy - i'm sure you'll come up with answers to your questions very soon. i would think the sooner you get the testing, the better it will be for you and DH in your planning for a bubba. with luck, you won't be a carrier at all, but if you are, there are many options - it just means planning differently - IVF/PGD can be a bit on the exxy side, but if you're prepared in advance, you can budget and work out when you want to start.

have a talk to your gyne about your TTC journey in the future following the removal of the endo - it may regrow and you might be advised to TTC sooner rather than later, or may have to have another lap beforehand. it's definitely something you want to throw into the mix in your TTC discussions with DH...

thinking of you hun

BG

:hug: You've been through a lot this year Amy :hug:

I hope 2009 brings you the answers you need, and that everything works out. You'll have your babies, I have no doubt!!!

Good luck with your appts and tests! I hope that it all goes well for you. I dont know anything about MD, but I do know 2 people who have haemochromatosis, and both can control their with just diet, you wouldnt know they had it unless they told you.

Good luck with the tests Amy! I'm :pray: that you won't even be a carrier and so it won't be an issue. It's great that you're getting this sorted now though and each test is a step closer to your little bub!

that's great that you have a plan, and will get the info you need.

If you can see a genetic counsellor through the same service that your family have been through, it should cut down on time because they will already have access to the family genetic file.

I am waiting for genetic results at the moment, so if you ever want someone to chat to, feel free to PM.

take care,

Kate