I'm a carrier for DMD as is my mother, her mother... and so on. My brother passed away nearly 4 years ago wth DMD. I have gone through many trials and tribulations in my pregnancies in order to NOT have this occur again in our family line... 2 failed IVF/PGD cycles and so on.

My genetic counselor told me they will not test my female newborn (due in 4 weeks!) for her carrier status. In fact, they will not test her until she's 18.

I didn't get tested until much later on... around 27 years old (I'm 31 now) and had I known then what being a carrier could actually entail I would've planned things much differently.

That being said, has anyone had their sons sisters testing for carrier status?
I've seen the list of tests they will run with newborn screening.. including a few very managable diseases. Cystic Fibrosis is on the list as well and I have to wonder why Duchene, a guarenteed terminal illness is not on the list.

If we know our daughters carrier status at an early age it will allow us to talk to her about it when she gets older or, god help us, becomes sexually active earlier than we'd like. I think it's important to discuss this with her as she gets older so she knows the effects it can have on her pregnancies, relationships and marriage.

If anyone has any thoughts on this, please let me know!

Thanks so much,
Amy

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If no-one will perform a carrier test, you might want to consider getting your paed to run a CK test. Whilst not definitive, it may give you an idea/some leverage to insist on carrier testing. CK isn't ALWAYS high in carriers but the result can give an indication.

Congrats on your pregnancy and best of luck with the birth! I'm due in 7 weeks also.

Take care.
Try another counselor. Or call the Emory Genetics Lab and ask to talk to the genetics counselor there. All you need is a blood draw locally. Insurance will more than likely not pay for the test - and if you know what deletion was that your brother had, it'll be $900. If you need a full gene sequencing, it's $2300.
Whats the number for the Emory Genetics lab?

michelle
We plan to have our daughter tested, but when she is old enough to understand the disease and the carrier status and when sex and pregnancy can be an issue. She is only 5 (almost 6) at this point in time so we have not explored having the test performed and who will pay for it. I know the MDA will pay at age 16 in our area. As far as a CK level I know that mine is always high as a carrier so that would seem like a place to start.
Number for Emory is 404-778-8499
Thanks for the recommendation, Keith. I will look into it!
My daughter was tested at age 17 and found to be a carrier. We did not have to pay anything for it because it was part of a grant or something that Childrens Hospital in Columbus, OH had. I can't remember exactly what it was now, but it didn't cost us a penny for both her testing as well as mine.

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