myotonic dystrophy

[1990fran]

Hi all

After some advice, i don't know if i have posted on the right section (sorry if i haven't)

I am trying for a baby after a miscarriage in September. My half sister who i haven't spoken to until just before Christmas has told me she and her little girl have myotonic dystrophy passed down from my biological father and that i should get tested before having a baby... I am not finding much usefull information online if I'm honest. If i ended up pregnant again i may chose to have the testing for downs syndrome etc so should i look into being tested for this myotonic disorder to? I haven't got it i don't think as i have read i would have had symptoms by now, thing is there's nothing i can do about it if i do carry the gene! I'm so confused

Has anyone else had an experience with myotonic dystrophy that they can offer advice on this? Thank you

Hi.

So I didn’t actually have an account and was reading through this and thought I had to reply!!

I have myotonic dystrophy, had my first child on 2017 at 27yrs, I don’t show many symptoms at the moment so am lucky.

What I would suggest first is please get yourself tested, it’s a really serious illness and can have some serious complications, also within pregnancy and childbirth so you need to know if you have it or not.

If you do have MD there’s a few things you can do with conception. People have different feelings about how to go about it and to me it’s what works for you.

I tried naturally and had a CVS test at 13 weeks to check if the baby had MD luckily he didn’t and he’s a happy healthy little boy 😊 if the baby does test positive that’s that’s a tough decision you would have to make.

A lot of couples go through PGD so basically IVF but the embroyns are tested before being put back into your womb, so edtonally the baby won’t have MD. If you’re in the UK this is free but does have some limitations.

I hope this helps. If you have any other questions regarding MD feel free to message me 😊

Thank you for your help and advice
When i was at the hospital not long ago i had blood tests and saliva tests, if anything was wrong would they not have informed me or is this condition only picked up by other checks etc

I am really worrying I am approaching 30 amd really want children.. I read online that it's mainly Mother's that pass this on rather than fathers but so many sites have conflicting information, my half sister has symtoms now, i have nothing as yet, i am going to contact my gp tomorrow in regards to a referral 😟

Thank you

My mum's friend was a carrier of MD, both of her son's had the disease but her daughter didn't. She became ill with the muscular problems when she was about 70, her heart was affected & she had to have a defibrillator pacemaker fitted & lived about a couple of years after. There is so much genetic screening that can be done now & whilst treatment can't cure MD, there are lots of things available to manage symptoms.