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I am not a genetic couselor, but I am familiar with genetic disorders. The biggest thing to remember is that you won't know your level of risk until your husband's tests are complete. Generally, positive tests indicate the the probability of having a child with a specific disease is higher than the general population, not that they will necessarily have the disease.
Tay Sachs is an autosomal recessive genetic disoder. Basically, that means that you have to obtain two genes (one from each parent) to have the active disease. If you have just one copy of the gene, you are a carrier. If you husband is a carrier for Tay Sachs, there is a 25% chance of having a child with Tay Sachs. There are a number of things that can be done to make sure you don't have a child with this disease (if he is actually a carrier), including preimplantation genetic diagnosis and prenatal diagnosis.
Fragile X is an X-linked dominant. Basically, this means that the gene affected is on the x chronmosome (females are XX and males are XY). Because of it's dominant inheritance, the child only needs one copy of the gene to have the disease. However, in females, there can be "compensation" because of the xx status (only one of the x chromosomes is active in each cell).
I'm not very familiar with familial hyperinsulinemia. I believe there are quite a few specific genetic changes that can cause this to occur.
Definitely don't get too worried until you find out the results and potentially talk to the genetic counselor. There are a TON of variables!
@EvaBostonTerrier: Thank you for all the information! I know I'm freaking out for no reason right now, but it's just scary to think about...I know the odds of having a child with Tay Sachs is only 25% (if my hubby is even a carrier), but I just don't think I could take that chance--and that would mean we could kiss normal TTC plans goodbye.
So for Fragile x, it seems like you're saying that if it's a boy, he'll definietly have Fragile X, because he only has 1 x chromosome, whereas a girl has two, and the normal x chromosome might help offset the abnormal one?
Familial hyperinsulinism is when your body produces way too much insulin, so the child would have constant hypoglycemia. It didn't sound too bad at first, but then I googled it--always a bad idea. Apparently it can lead to seizures. cognitive disabilities, comas, etc. from repeated periods of low blood sugar.
Anyway, thanks for the encouragement. He's going on Friday, and then we'll have to wait about 1.5 to 2 weeks to find out the results.
@hilsy85: I am a genetic counsellor in Canada. I don't have time to respond at the moment (at work) and can't provide specific advice, but I can answer some basic questions if you PM me.
:( I can understand the fear & worry.
Crossing fingers & toes that your hubby is not a carrier.
@blondy: Thank you! I may take you up on that.
@Gerbera: Thanks so much for the kind thoughts...I just wish we knew one way or the other already.
@hilsy85: We went to one once I became pregnant with Wombat after losing Moose so late. It was scary because we had such a late loss and I was already pregnant again. The lady asked a lot of questions about our family medical history and had tests performed which i hadn't already had. It wasn't bad at all.
"What do they do if it turns out that you're both carriers?"
Genetic counsellors are essentially there to help put information about genetics, genetic disease, and genetic testing into laymans terms so that the patient can better understand their options and make an informed decision.
In your particular situation, if your husband is a carrier of Tay Sachs, then a genetic counsellor will help you understand the disease, the genetics behind it, and the risks associated with being carriers. They will explain each of your options with regards to having children, and they will be there for you and help you through the process when you decide to begin your own family.
Essentially, they are there to provide information and support :)
@echo: Thanks for the info...I mean, I know the counselor is there for support. I guess I was more looking for what would happen if it turns out that both my hubby and I are carriers, and has anyone been through that before. Hopefully we won't actually have to meet with a counselor though, because hopefully he won't be a carrier! :)
@TheFutureMcBride: Thanks for sharing your experience :)
I haven't seen a genetic counselor but I think I want to. My husband has severe asthma, he has life threatening asthma attacks. It's scary. Now I'm fine with taking care of my child no matter what but I want to know what the risk of our child getting his severe form of asthma. I know asthma can be hereditary but I want to know about the severe form of it. My husband on the other doesn't want to know. I'm a worrier and a planner so I would like to have time to plan around the possibilities.
Well, let us know how your session goes.
Crossing my fingers for you.
My fiance & I went to see a genetic counselor when I was pregnant with our daughter almost 3 years ago. She filled out a family tree for each of us and wrote down specific diseases/conditions that appeared in our relatives. I had to have an amniocentesis where they checked for sickle cell anemia & tons of other genetic disorders, but luckily she came back negative for all those. Good luck, and I hope things turn out well for you both!
@AudzinLuv: Yeah, we wanted to get it done before getting pregnant, because of the potential risk of having a baby with Tay Sachs. I can't imagine finding out that information after you're already pregnant :( I'm glad everything was okay for you and your family!
@yrret107: Yup I'm pretty much the same way...there's no way I was going to just get pregnant without first knowing for sure whether we were carriers. I'm grateful that our insurance covers the testing...sometimes they don't until after you're pregnant. Which seems kind of silly to me...by the time you're pregnant, you're in a terrible position to make a decision on what to do if you do end up both being carriers and your baby has a disease.
@hilsy85: Oh, that's good to know insurance covers it. I'll need to check with my insurance but I always thought this kind of stuff wouldn't be covered. Have you started TTC yet? Did you have to ask your ob/gyn about it? I wouldn't even know where to start with finding one.
@yrret107: We haven't started TTC yet, in part because I wanted to wait to find out about these tests. If we're both carriers for Tay Sachs, then from what I've read it seems like we would need to have pre-implantation embryo selection, where they select embryos that do not have both Tay Sachs genes from us and then implant those. So it would be way more scientific (and probably expensive) than normal TTC, which would make me sad :( I mentioned to my GYN at my last appointment that we're thinking about TTC this fall, and she told me to find out if my insurance covers these tests before I'm pregnant. If not, then it would have been up to us if we wanted to pay to do them anyway, or wait til I was pregnant. I'm assuming that if DH is a carrier of the same stuff I am, they'll hook us up with a genetic counselor. Whew, sorry to write a novel :)
@hilsy85: Oh, ok. My husband and I are planning to start TTC at the end of the summer and I still need to go see my Ob/gyn for a pre-conception appointment. I'll bring it up with her and maybe she can refer some counselors. Thanks!!
@hilsy85: Ah - sorry. I thought you were wondering what a genetic counsellor will do for you because often people haven't even heard of genetic counsellors before they're referred :)
I take it you are more so wondering what happens if you are both carriers (fingers crossed this is NOT the case) and you want to be sure to have an unaffected child?
If that's the case, I tend to agree with not getting too far ahead of yourself - and causing undo worry and stress, because the odds are your husband is NOT a carrier! However, if you're anything like me, you are probably a worrier and like to do your research - heh.
For any couple that are carriers of a genetic condition there are a few options:
1. Get pregnant naturally, have no testing and hope for the best. If the child is affected when born - deal with the situation at that point.
2. Get pregnant naturally, have diagnostic testing to confirm whether the child is affected (can be done as early as 11 weeks). If affected - choose between option of continuing or stopping the pregnancy.
3. Use process called pre-implantation genetic diagnosis combined with IVF. Eggs and Sperm are put together in vitro (petrie dish) and the resulting embryo's are tested for the genetic condition. Insert only those embryos that are unaffected into the uterus via IVF.
Is that more along the lines of what you were looking for ?
Edited to add: And I see you've already been doing your research :)
@echo: Wow, that's great information. Thanks!
I haven't, but a couple at my temple ended up concieving a baby with Tay Sachs. They weren't tested until after the baby was conceived, and they found out that the baby did have it. They ended up terminating the pregnancy and tried again. Each time there's a 1 in 4 chance that the baby will have it. They did get pregnant again and now have a healthy 2 year old baby boy.
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I just found out that I'm a carrier for Tay Sachs and for hyperfamilialinsulinism. My DH is getting tested for those things this Friday, and possibly for Fragile X, if my test for that comes back positive as well. The nurse I spoke to said that if he is also a carrier for any of those things, the next step would be to speak to a genetic counselor. I know I'm getting ahead of myself, but has anyone been throug this before? What do they do if it turns out that you're both carriers?