Genetic disease and future family planning

[kristalee]

Hello -

I have a son with an x-linked genetic disease (myotubular myopathy); I found out after he was born that I am a silent carrier of the disease.  My partner and I are thinking about our options for future children - we're definitely open to adoption, less excited about IVF, and looking into something called "sex-linked sperm sorting" or "microsort" combined with IUI.

I'd love to connect with other parents who are carriers of genetic diseases and hear about how you've made choices about having kids.  We're weighing this (surprising to me) desire to have biological kids with the knowledge that adoption probably makes a lot more "sense" -- less invasive for my body, less experimental ("Microsort" is still an FDA trial), and the knowledge that there are kids already in the world who need homes. 

If anyone is willing to share what they've been through in thinking about these options - either here or by being in touch with me over email - I'd love to hear get others' insights on their process.

Thanks so much,

Krista

[~cassie]

My husband and I are both carriers of a mutation on the OTOF gene that caused our 3 1/2 yr old's deafness.  For us--it isn't a big deal.  We feel we can handle another deaf child.  Our son has done wonderfully and although if another child is born the same--it won't be the exact same but we are hopeful that we are familiar enough with what needs to be done that we will be willing to chance having another child born deaf.  Our chance is a 1/4 chance each pregnancy of that child having the mutation.  Of course--this is only for MY family with a genetic issue that is a lot easier to handle than some other genetic mutations.

[kristalee]

Hi Cassie -

Thanks for this response - it's good to be reminded that "genetic disorder" is a really broad category.  My son's disease is really life altering and difficult -- he hasn't been able to breath on his own since he was born and will likely need a ventilator all his life.  Nonetheless, it's still hard to think about planning our next pregnancy (or adoption) to avoid having another child with MTM, since we love everything about our son so much.

Thanks again.  - Krista

[beenmum]

This is our line of thought

We have the risk of having another child with what my DD has. (My son and i both have 1 chromo mutation...she has 2)

However, we also could not be carriers and end up with a child who has CP like my nephew b/c of a stroke.

Our geneticst encouraged us to have more kids if we wanted to. That knowing what was wrong would make things easier to deal with next time round. That we shoudlnt not have more kids, and then regret it later.

[beenmum]

YEs, this is also how we feel. Like it would be admitting that there is something wrong enough in our child to actively seek not having another one.

However, I could also see why we would want to aviod the pain of having another disabled child,

There is no easy answer to this.

[Heidi74]

My father was recently diagnosed with ADPKD: Polycystic Kidney Disease. This disease often is not diagnosed until mid to late adulthood, and I don't know whether or not I have it. I keep going back and forth on whether or not to be tested...but I think that as long as there is no existing treatment for the disease, and as long as I don't have any symptoms, I would prefer to not know. I will ask my doctor to monitor my blood pressure (which has always been fine), but that's it. My chance of having it is 50%. If I don't have it, my kids can't inherit it. If I do, they also have a 50% chance of inheriting the disease.

We just found out about this a few months ago. We are currently on the fence about having a third child, but I don't think we are going to allow this to affect the decision. At least as long as I don't have symptoms, I don't think we'll let it stop us. Should I start developing symptoms and am actually diagnosed with PKD, we may change our minds...also considering my health in going through another pregnancy. I just don't know. As I said, this is pretty new to us, so there is a lot to take in right now.

[plum tree]

My son has a fatal genetic disorder.  There is treatment available (which he has had), but the treatment carries significant mortality risks.  We chose IVF/PGD in order to have more children.  PM me if you want to talk further, I typically don't post the details on public boards.