Post # 1
Someone close to me was told at her 20 week scan that her baby has a severe genetic neurological disorder.
This is the same disorder that killed her brother. When her brother was born they didn’t identify the disorder as genetic because it can have other causes and there were no other cases in the family.
When her baby was diagnosed the doctors went through her brother’s medical records and have concluded that it is very likely genetic. The genetist they worked with told them that for this specific disorder only 70% of the mutant genes have been identified so the fact that they can’t find the mutant gene doesn’t exclude the diagnosis.
The doctors have also excluded any other cause and told them that if they were to try and get pregnant again there is a chance it could happen again.
Knowing this would you try and conceive again?
Post # 3
@walnutgirl: Probably not. I’d definately look into other options, such as egg donation or adoption.
I am so sorry this happened to your friend 🙁
Post # 4
- Wedding: October 2011 - Bed & Breakfast
I would probably TTC with donor eggs.
Post # 6
If it is fatal, probably not. If it’s just something that would make life different, like albinism (which runs in my family) then I wouldn’t consider not TTC naturally.
Positive thoughts going out to your friend right now.
Post # 7
Probably not, it sounds very severe if her brother died from it. Oh, it does depend on the risk though, if it’s a likely thing than probably not. If chances are small then maybe.
Post # 8
It depends on the risk. My husband is a type 1 diabetic, so our children have a 1/17 risk of getting it, though the fact that he was diagnosed at 27 and nobody else in his family has had it might lower that a bit. We will still have biological children and take that risk, because while it would be devastating if our children got it, it is not a death sentence and technology is improving every day so we would deal with it. If it were a more deadly disease or a higher risk, we would reconsider.
Post # 9
I struggle with this myself. I have Crohn’s Disease and it is genetic. While it’s chronic and not fatal, it sucks. I thought I was the only one in my family to contract it, but my dad (57) is now starting to show symptoms. I want munchkins, but I don’t know if I want to put them through this. The one factor that is leaning me to having kids is the fact that they won’t have to go through as much struggle as I went through and we will know to test them and be able to coach them through all of the flare-ups.
Post # 10
This disorder leads people to live a very limited life. It basically stops the brain from developing normally. 🙁
It’s just sad and I have advised her to look into adoption and things like that.
Thanks for the positive thoughts 🙂
Post # 11
like others have said, it depends on the severity of the condition. Something that would 90% lead to death of the child and was more than 50% likely each pregnancy, then no.
But DH has osteochondromas (benign bone tumors), his mother, sister and nephew all have them, it is definitely genetic, but there is a 50% chance the child would get them each pregnancy. Since it isn’t life threatening and now-adays they don’t even remove them unless they are causing a problem (when DH was little they would remove them no matter what… he had LOTS of surgeries) it’s not even a blip on our radar. If it happens it happens, it’s no reason to not have a child of our own.
Post # 12
@walnutgirl: She could also go the donated egg route and invetro. It is expensive, but it does give her the opportunity to birth her future children if that is something she finds imoportant.
Post # 14
I’m sorry to hear about your friend. While I know you have good intentions, please do not “advise” her on adoption. I can promise you that she knows adoption is an option, you are not telling her something she doesn’t know, and very few things annoy people going through difficult times regarding their own childbearing more than a helpful hint to just adopt. She may be able to do IVF with genetic screening of the embryos. Or she may have to grieve the loss of having her own biological child, whether that means donor eggs or adoption. Even if she decides to go the adoption route, it’s a process to make peace with that decision. If she’s a good friend, she can use all the support you can give her, and you advising her to adopt isn’t going to make her feel supported. If you have specific knowledge or experience with adoption, that’s really great and could be extremely helpful, but she will need that info when SHE’S ready to hear it, not hoisted onto her when she’s hurting.
I don’t mean to sound harsh. As someone who has had my own issues TTC, I have wanted to smack anyone who advises me to just adopt, as if I’d never thought of that before, and it’s the #1 complaint on infertility message boards. I know this is isn’t infertility, but I think the logic applies.
Post # 15
It really depends. Is it something that can be detected by ultrasound fairly early on?
What’s the estimated probability? If it’s thought that it’s a recessive trait, so 25% and can be screen via ultrasound and we really wanted a child that was a mix of our genes then I probably would. Higher than that, or if it can’t be screened for when it’s a 25% chance, no.
Post # 16
I struggle with that question. I have Epilepsy and even though there is only a 5% chance I would pass that on to my child I am terrified to think of my child going through what I go through. My seizure disorder is severe and not 100% under control but I am happy to say I am at a really great point in my life right now.
My biggest fear more so than my child inheriting a seizure disorder is the birth defects that my medication can cause. My nuerologist has stressed the importance of swithcing medications if I choose to become pregnant but changing medications causes me a lot of mental and physical difficulties and I could still have seizures or even increased seizures. I would be too afraid of what would happen to my child.
We will happily look into adoption in our future.