Fragile X Syndrome Support Group
Fragile X Syndrome is the most common inherited cause of mental retardation, and is associated with autism. The fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X chromosome. Mutation at that site is found in 1 out of about every 4000 males and 1 out of about every 6000 females.
Shortly after getting married almost 2years ago, a family member (cousin) shared that her three boys had all been diagnosed with full mutation Fragile X and it came from our family. She is a pre-mutation. My husband and I were terrified. We had never heard about this syndrome before and now all of a sudden, I was quite possibly affected by it.
I suspected that I would be at least a carrier as my mom had pre-mature ovarian failure in her late 20s-early 30s. Sure enough, test results came back and I was a carrier (pre-mutation). We also learned that my mom had 2 affected Xs but in pre-mutation levels meaning both my maternal Grandmother and Grandfather were carriers. The implications for my mom's very large family (6 brothers and 4 sisters) was huge.
My husband and I went for genetic counseling and saw a doctor regarding IVF with PGD testing. After talking with the counselor, we learned that our chances of having a pregnancy resulting in a full mutation was approx 20% vs. a 60% failure rate of using IVF per the stats from the fertility doctor. We thought, our chances of having a healthy baby or one with a pre-mutation like me was very high and that we would chance a natural pregnancy. After 3 months of trying, I was pregnant. The fact that I even got pregnant was a joy for me as I feared I would have difficulty like my mom (and many other female family members) in getting pregnant. At 6 weeks, I had a dating ultrasound which then determined my CVS procedure at 12 weeks. It was so difficult to go through my pregnancy and feel as though I couldn't even tell my family members. The only people who knew (and this was at 7weeks) was both my husband and I's parents. My husband's own siblings were not told. We were told that the CVS results would be in at 2 weeks.
4 weeks later, we had the results and they were devastating. Our baby (a girl) had a full mutation and it was high. At 16 weeks, I was showing (and it was getting hard to hide) and we were finally allowing ourselves to get a little excited over this little life growing inside me. And now, we knew that the life of our little girl would be so drastically different than we ever thought. With her numbers so high, what kind of quality of life would she have? Would she even be able to attend a regular school or would she need special arrangements? My cousin had said that since it was a girl, she would have the extra x to compensate and wouldn't be that affected but in talking to the genetic counselors, we learned this was not so. Being a girl with Fragile X is a wild card; who knows how much of that "good x" would be turned on. We made the difficult decision to end the pregnancy and at 17 weeks, I was induced. Being induced and going through labor was my choice. I did have other options but the option we chose felt like the best route.
Now, 9 months later, my husband and I have gone through 2 rounds of IVF and our embryo samples are currently being tested through PGD. My first round of IVF yielded 10 eggs, of which 9 were fertilized. Throughout the first 3 days, 8 embryos remained strong and then on day 5, I dropped to 1 embryo. So sad. Day 6, 3 more came around. For my second round, the doctor switched my meds. The second round didnt seem as organized as the first and things were just more up in the air. On egg retrieval day, they got 12 but only fertilized 10. On Day 1, my number dropped to 6 and quickly I learned that this second round was not going to be as good as the first. By day 6, we only had 1 embryo remaining. The thought that my husband and I would not become parents grew even more realistic. So with 5 embryos being tested, we are hanging on to a strand of hope that we have at least 1 or 2 unaffected embryos and by some miracle, they take when implanted. If this doesnt work, this is it. My husband does not want to adopt, get an egg donor or anything of the sort. Could use some positive thoughts and good vibes as I must admit, we're running low on them these days.
Even with all this looming, I cannot help but to think about my extended family... All my cousins, aunts, uncles...etc... Some of my aunts and uncles have chosen not to tell their children, thinking that this family genetic issue is nonsense. Many of my cousins have children or are starting to. One of my cousins, who originally learned of the Fragile X, did notify the aunts and uncles but left it to them to decide whether to share with their children. I have an internal fight with myself constantly regarding reaching out to them again and stressing the importance of having themselves and their children tested by sharing my story. I am curious to see whether anyone out there has had difficulty in getting their family to acknowledge Fragile X and how you dealt with it?
I suspected that I would be at least a carrier as my mom had pre-mature ovarian failure in her late 20s-early 30s. Sure enough, test results came back and I was a carrier (pre-mutation). We also learned that my mom had 2 affected Xs but in pre-mutation levels meaning both my maternal Grandmother and Grandfather were carriers. The implications for my mom's very large family (6 brothers and 4 sisters) was huge.
My husband and I went for genetic counseling and saw a doctor regarding IVF with PGD testing. After talking with the counselor, we learned that our chances of having a pregnancy resulting in a full mutation was approx 20% vs. a 60% failure rate of using IVF per the stats from the fertility doctor. We thought, our chances of having a healthy baby or one with a pre-mutation like me was very high and that we would chance a natural pregnancy. After 3 months of trying, I was pregnant. The fact that I even got pregnant was a joy for me as I feared I would have difficulty like my mom (and many other female family members) in getting pregnant. At 6 weeks, I had a dating ultrasound which then determined my CVS procedure at 12 weeks. It was so difficult to go through my pregnancy and feel as though I couldn't even tell my family members. The only people who knew (and this was at 7weeks) was both my husband and I's parents. My husband's own siblings were not told. We were told that the CVS results would be in at 2 weeks.
4 weeks later, we had the results and they were devastating. Our baby (a girl) had a full mutation and it was high. At 16 weeks, I was showing (and it was getting hard to hide) and we were finally allowing ourselves to get a little excited over this little life growing inside me. And now, we knew that the life of our little girl would be so drastically different than we ever thought. With her numbers so high, what kind of quality of life would she have? Would she even be able to attend a regular school or would she need special arrangements? My cousin had said that since it was a girl, she would have the extra x to compensate and wouldn't be that affected but in talking to the genetic counselors, we learned this was not so. Being a girl with Fragile X is a wild card; who knows how much of that "good x" would be turned on. We made the difficult decision to end the pregnancy and at 17 weeks, I was induced. Being induced and going through labor was my choice. I did have other options but the option we chose felt like the best route.
Now, 9 months later, my husband and I have gone through 2 rounds of IVF and our embryo samples are currently being tested through PGD. My first round of IVF yielded 10 eggs, of which 9 were fertilized. Throughout the first 3 days, 8 embryos remained strong and then on day 5, I dropped to 1 embryo. So sad. Day 6, 3 more came around. For my second round, the doctor switched my meds. The second round didnt seem as organized as the first and things were just more up in the air. On egg retrieval day, they got 12 but only fertilized 10. On Day 1, my number dropped to 6 and quickly I learned that this second round was not going to be as good as the first. By day 6, we only had 1 embryo remaining. The thought that my husband and I would not become parents grew even more realistic. So with 5 embryos being tested, we are hanging on to a strand of hope that we have at least 1 or 2 unaffected embryos and by some miracle, they take when implanted. If this doesnt work, this is it. My husband does not want to adopt, get an egg donor or anything of the sort. Could use some positive thoughts and good vibes as I must admit, we're running low on them these days.
Even with all this looming, I cannot help but to think about my extended family... All my cousins, aunts, uncles...etc... Some of my aunts and uncles have chosen not to tell their children, thinking that this family genetic issue is nonsense. Many of my cousins have children or are starting to. One of my cousins, who originally learned of the Fragile X, did notify the aunts and uncles but left it to them to decide whether to share with their children. I have an internal fight with myself constantly regarding reaching out to them again and stressing the importance of having themselves and their children tested by sharing my story. I am curious to see whether anyone out there has had difficulty in getting their family to acknowledge Fragile X and how you dealt with it?
ashleyg
Hi I am a carrier of fragile x and my mother and aunt are carriers also. My brother and male cousin are affected. I've gone through 3 ivf cycles and one one embryo was unaffected. We transferred and unfortunately it did not take. I believe with the amount of eggs from my ivf cycles it seems like I have a diminished ovarian reserve. Not sure where to go from here either. Looking into egg donation as a last resort.
fffFFF
I am sorry you are going through this. I would recommend considering PGS NGS as the option. Good luck
Jha
I wanna say I am so sorry you have to go through all of this... I went through exactly the same with my pregnancy when I found out I was a carrier of the fragile x and my unborn baby girl had the full mutation... I'm still dealing with the pain and just started the IVF process. How did your second round end up? How are you?
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