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,