Brittle bone disease

[Alex1tuck]

Hi ladies, I'm 25 weeks pregnant and I told my midwife (2that I've had) that my partner had a sibling who died at birth due to brittle bone disease, I've had no medical genetic testing for this even tho his ex partner did, and his brothers partner did. Should I be pushing for this? Anyone had experience with this?

Thanks x

[Hidden]

I think if u want it then u shud b able to b tested...my mum has cmt (charcot marie tooth) which is a debilitating illness and my midwife got me in contact with the people tht do genetic testing to test me to see if I was a carrier...which I am not so worth asking xx

[Alex1tuck]

Do they have to do genetic testing between certain dates or is it me they will test and if I'm not a carrier then its not possible for my little girl to get it? X

[Hidden]

I am not very clued up on these things so my advice wud b to ask ur midwife or gp as I hav no idea about brittle bone disease and whether it can b passed on etc. Just as my mums condition can b passed on but as I say I am not the brightest when it comes too these things but wud assume if u or ur partner are not carriers then the chance of her having it wud b minimum x

[Alex1tuck]

Thank u, I'll get back on to my midwife about it, if I don't feel ok with it I'll book an appt with the GP. Thank u for ur help xx

[DrFluffy]

Is your partner a carrier? Assuming he was also tested?

[Alex1tuck]

No they ever tested him, but said its a 50/50 chance that he would b a carrier, they said they don't test men, unless they want to go private, I contacted the hospital they said I am entitled to get tested, but is should have been done early on in pregnancy. But they will still refer me especially as I'm young and its my first then if we have more kids it will put our minds at rest for the future if I'm not a carrier as then my kids could never have it, only carry it if my partner is a carrier. Thank u.