Chronic illness passed down
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Anonymous
| We have a chronic immunodeficiency that runs in our family. My father, then me and now my child. How do we stop this from getting passed to next generation? My adult child would like to get pregnant but has concerns about passing this … what are the options? She is able to get pregnant but is concerned about the genetics |
Anonymous
| Stop having kids. Break the chain |
Anonymous
| Op my daughter wants to have kids |
Anonymous
| Is there a way with IVF to take out gene?? |
Anonymous
| You need a genetic counselor. I believe you can find one at Georgetown or at Hopkins in Baltimore. My info is old though. |
Anonymous
Can select an embryo without specific genetic markers - look into pgt-m |
Anonymous
| You can’t take out the gene(s) but you can have all embryos tested if you do IVF, and select only the embryos that do not carry the relevant gene(s). |
Anonymous
That's only possible if the immunodeficiency is carried by one or a set of known genes that can be identified by available screening methods... which rules out all the multifactorial diseases, unfortunately. My daughter has a chronic autoimmune disease that impacts her ability to have a safe pregnancy and healthy baby. Since it's a multifactorial disease, it's not possible at this time to select out embryos. But she can adopt. |
Anonymous
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If it’s a single gene mutation then you can select for the embryo without the known pathogenic mutation. However, there are many diseases which are multifactorial and do not lend themselves to pgt-m screening.
First stop is genetic counseling to see if the disease can be genetically identified. If not, I would suggest using a donor egg. Then, your daughter can still experience pregnancy and breastfeeding. The baby will be genetically linked to her husband and the chain of disease will be broken. |
Anonymous
This is what I did. 49 no kids and I'm happy that I made the right decision for myself. My life has been a lot of torture and I don't want to pass that on. |
Anonymous
Me too. I knew at a young age I would not have children due to the gene pool. |
Anonymous
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First step is to clearly characterize the disease. If you don’t know precisely, find out. There is likely a scientist at NIH Clinical Center in Bethesda that researches your disease. I previously worked with people with inborn errors of immunity severe enough to need a bone marrow/stem cell transplant. Can you provide more info?
Seeing a doctor who specializes in your disease can help you navigate. |
Anonymous
I think it would be selfish to do so. You can basically "save" someone the pain of a life like this why wouldn't you? |
Anonymous
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Agree that she should start by speaking to a geneticist. She may need a referral from her GP or OBGYN. The geneticist can tell her the chance of passing the condition on and what options she might have for conceiving a child. When I received a prenatal diagnosis for a random genetic mutation I spoke with Rebecca Miller at Inova. I found her to be well informed and unbiased.
Once your daughter has more information she can make an informed choice. And if that choice is to try to conceive a child naturally and hope for the best, I think that’s a decision to be respected. Likewise if she chooses to pursue IVF or adoption or another path. She knows firsthand whether the condition is manageable and how much it affects one’s quality of life. This is likely to be a tough road for her whatever she decides to do. Hopefully you as her parent are ready to stand by her no matter what. Having my parents’ universal support was so important to me as I weighed whether to continue my pregnancy, and it continues to be as I raise my disabled child, who has a very happy life despite their condition. |
Anonymous
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It really depends on the genetics of the disease. Some basic googling should tell you whether it’s known what gene is responsible for the disorder and whether it’s autosomal dominant, recessive, etc. It should be easy to look up the chances of passing it to an offspring (for instance for recessive disorders the chance of being affected can be as low as 25%). I personally would probably not go straight to IVF if I had a 25% chance of having an an affected kid; if it were a 50% chance I might. You daughter could decide to get pregnant naturally then get amniocentesis to test the fetus knowing she’d abort if positive for the disorder.
It’s a really personal decision, but a genetic counselor could lay out the exact risks if you don’t want to Google it. |