Aibu? husband and genetic testing.

[Deemail]

My dh is at risk (50%) of inheriting a debilitating illness, if he is a gene carrier our dc will have the same risk. It is a terrible terrible illness which usually strikes between 30-45 but can be sooner or later, there is no preventative, cure or effective treatment.

We didn't find out that he was at risk until after we had children. Obviously when we did find out it was a huge shock. Dh felt he wasn't able for genetic testing to find out whether or not he has the gene mutation. I would have been keen to find out but understood that this wasn't something he was yet able for. We decided to wait a few years and agreed that at some point we would have to know for sure for the childrens sake, (if the illness had not already started).
It has now been a lot longer than the few years we said. The kids are teenagers and I feel we need to know for their sake. We mention the illness and family members having it and it been inherited, from time to time but they really do not understand the signifigance of it.

Aibu insisting dh has the test so we know where we stand and also where children stand. He says he wants to have it but has said that for years and has never done anything about it.
Im scared if I push him into it and it is a positive result he will blame me and also give up.. Im scared if he doesn't have it the dc will resent us in time to come for not been more honest about what lies in the future for their father and possibly themselves.

[raltheraffe]

I am in a very similar situation. Husband has a severe variant of RP and was registered blind age 8 and now has zero vision. Our son has a 50/50 chance of having the illness. Normally there is no test for RP but my husband comes from a giant family called the McGuffys which happen to be the most researched and studied family with RP in Manchester (I think most of them are Catholics hence the size of the family). Anyhow when we took our 6 month old son to the Professor at Manchester Children's Hospital he informed us that they have isolated the faulty gene and our son could have a blood test to see if he had the illness. I immediately demanded the test, but the Professor refused to do it. He said I did not actually want the result of the test, I wanted to be told there was nothing wrong with my son. He said if the test came back positive I would probably be very angry with him that he allowed me to have the test done. He said you have a healthy child now, just go away and try to live a normal life and if my son's vision starts to deteriorate to return to clinic then.
I left the appointment fuming I could not have the test done, but now I think the doctor did the right thing. My son is now 3 and continues to have good eyesight and every year that goes by and he does not develop a problem the probability he has RP drops.

[Deemail]

Thank you all, I can honestly say weeks later it's just starting to sink in, we never expected a negative result would be so over whealming and hard to get our heads around.

I really wish that everyone in this and similar positions could be as lucky. thanks for the good wishes and contraband hugs:-D and let's keep supporting modern science especially research and development.