u/Flat_Coffee_1512

My father died from ALS two years ago. It was a horrific experience for him. He had an intermediate number of repeats (30) for ATXN2. Since then, I was tested and also have 30 repeats. My husband and I went through the long, emotional, and expensive journey of IVF to do pregenetic implantation testing for the gene. We transferred one of our “healthy” embryos in February and I am now 13 weeks. We did the CVS test to confirm whether the fetus is all good to go and I just got the results. Repeat lengths of 22-29. Apparently the 29 repeats came from my husband, not me. Holy curveball. Which means that baby doesn’t have a risk of ataxia but does still have a risk for ALS. My husband and I did all of this to avoid passing on the gene and now here I am, faced with either terminating or potentially passing along an ALS risk. The only upside is that the baby won’t have ataxia. But I don’t want them to get ALS either or to have to go through all of this someday to have kids of their own who are healthy. The hard thing about the ATXN2 gene is that it’s just a risk gene. I know that at 30 repeats, I have something like a 3-7% risk of ALS and I’m not exactly sure what the risk is at 29 repeats.

What would you do?? Should I terminate since the whole point was to avoid this? Or is the risk worth it? We do have other embryos to use, though I have no idea if those also have morphed genes now.

I’ve reached out to some GCs but haven’t heard back.

My father died from ALS two years ago. It was a horrific experience for him. He had an intermediate number of repeats (30) for ATXN2. Since then, I was tested and also have 30 repeats. My husband and I went through the long, emotional, and expensive journey of IVF to do pregenetic implantation testing for the gene. We transferred one of our “healthy” genes embryos in February and I am now 13 weeks. We did the CVS test to confirm whether the fetus is all good to go and I just got the results. Repeat lengths of 22-29. Which leads me to believe my 30 repeat gene has morphed into a 29 repeat gene. Which means that she doesn’t have a risk of ataxia but does have a risk for ALS. No one warned me that this could happen with a gene that passed the PGT testing. My husband and I did all of this to avoid passing on the gene and now here I am, faced with either terminating or potentially passing along an ALS risk. The only upside is that she won’t have ataxia. But I don’t want her to get ALS either or to have to go through all of this someday to have kids of her own who are healthy. The hard thing about the ATXN2 gene is that it’s just a risk gene. I know that at 30 repeats, I have something like a 3-7% risk of ALS and I’m not exactly sure what the risk is at 29 repeats.

What would you do?? Should I terminate since the whole point was to avoid this? Or is the risk worth it? We do have other embryos to use, though I have no idea if those also have morphed genes now.

My father died from ALS two years ago. It was a horrific experience for him. He had an intermediate number of repeats (30) for ATXN2. Since then, I was tested and also have 30 repeats. My husband and I went through the long, emotional, and expensive journey of IVF to do pregenetic implantation testing for the gene. We transferred one of our “healthy” genes embryos in February and I am now 13 weeks. We did the CVS test to confirm whether the fetus is all good to go and I just got the results. Repeat lengths of 22-29. Which leads me to believe my 30 repeat gene has morphed into a 29 repeat gene. Which means that she doesn’t have a risk of ataxia but does have a risk for ALS. No one warned me that this could happen with a gene that passed the PGT testing. My husband and I did all of this to avoid passing on the gene and now here I am, faced with either terminating or potentially passing along an ALS risk. The only upside is that the baby won’t have ataxia. But I don’t want her to get ALS either or to have to go through all of this someday to have kids of her own who are healthy. The hard thing about the ATXN2 gene is that it’s just a risk gene. I know that at 30 repeats, I have something like a 3-7% risk of ALS and I’m not exactly sure what the risk is at 29 repeats.

What would you do?? Should I terminate since the whole point was to avoid this? Or is the risk worth it? We do have other embryos to use, though I have no idea if those also have morphed genes now.

ETA: apparently the 29 repeats came from my husband, not me. Holy curveball.

My father died from ALS two years ago. It was a horrific experience for him. He had an intermediate number of repeats (30) for ATXN2. Since then, I was tested and also have 30 repeats. My husband and I went through the long, emotional, and expensive journey of IVF to do pregenetic implantation testing for the gene. We transferred one of our “healthy” genes embryos in February and I am now 13 weeks. We did the CVS test to confirm whether the fetus is all good to go and I just got the results. Repeat lengths of 22-29. Which leads me to believe my 30 repeat gene has morphed into a 29 repeat gene. Which means that she doesn’t have a risk of ataxia but does have a risk for ALS. No one warned me that this could happen with a gene that passed the PGT testing. My husband and I did all of this to avoid passing on the gene and now here I am, faced with either terminating or potentially passing along an ALS risk. The only upside is that she won’t have ataxia. But I don’t want her to get ALS either or to have to go through all of this someday to have kids of her own who are healthy. The hard thing about the ATXN2 gene is that it’s just a risk gene. I know that at 30 repeats, I have something like a 3-7% risk of ALS and I’m not exactly sure what the risk is at 29 repeats.

What would you do?? Should I terminate since the whole point was to avoid this? Or is the risk worth it? We do have other embryos to use, though I have no idea if those also have morphed genes now.

My father died from ALS two years ago. It was a horrific experience for him. He had an intermediate number of repeats (30) for ATXN2. Since then, I was tested and also have 30 repeats. My husband and I went through the long, emotional, and expensive journey of IVF to do pregenetic implantation testing for the gene. We transferred one of our “healthy” genes embryos in February and I am now 13 weeks. We did the CVS test to confirm whether the fetus is all good to go and I just got the results. Repeat lengths of 22-29. Which leads me to believe my 30 repeat gene has morphed into a 29 repeat gene. Which means that she doesn’t have a risk of ataxia but does have a risk for ALS. No one warned me that this could happen with a gene that passed the PGT testing. My husband and I did all of this to avoid passing on the gene and now here I am, faced with either terminating or potentially passing along an ALS risk. The only upside is that she won’t have ataxia. But I don’t want her to get ALS either or to have to go through all of this someday to have kids of her own who are healthy. The hard thing about the ATXN2 gene is that it’s just a risk gene. I know that at 30 repeats, I have something like a 3-7% risk of ALS and I’m not exactly sure what the risk is at 29 repeats.

What would you do?? Should I terminate since the whole point was to avoid this? Or is the risk worth it? We do have other embryos to use, though I have no idea if those also have morphed genes now.

ETA: apparently the 29 repeats came from my husband, not me. Holy curveball.