I'm so happy for you guys! I was really excited to see you mention Fragile X Syndrome as one of your examples for genetic carriers because most people have never heard of it, including doctors! I have a 27 year old son who was diagnosed with FXS at 3½ years old (September 16, 2002 was a ROUGH day for this mama!) and he is considered "patient zero" for our family because he was the 1st to be diagnosed. I learned about FXS from a women's magazine article BTW and the pediatrician argued with be for 45 minutes just over whether to do the DNA blood test or not. I was so mad when he was transferred elsewhere(military) before the results came back. I really wanted to see his face when it was positive. I was 99.99999999% positive it would be a I have an uncle with all the facial features & a lot of the characteristics. We then had my 6 month old 2nd son tested ("unaffected" a teen i hate because have 2 siblings with any disability absolutely affects you!) & my parents both got tested, though we were sure it came from my dad's side, and we were right. He talked to his parents & siblings who all agreed to get tested. It's X linked so we knew his mom had to be the carrier but then her siblings started testing and at least some of her sisters are NOT carriers, which means she inherited it from her mother. My dad is the only carrier and 1 of his brothers is what's called a "mosaic" which is actually what my oldest is too. They are both a carrier(partial mutation) & full mutation. He been married for decades, had to grown children & a grandchild in the way, but that meant my cousin would be a carrier too so she needed to be informed. My dad & grandparents went to my aunt & uncle's home to give them the news and suggest he be tested. My aunt cried because she said it was such a relief to know what made her husband different. My dad flew with him to Sacramento to see a specialist (1 of THE experts in the world) a couple of times which was helpful for them as they hadn't been able to meet and do research on older adult men who have FXS. (They live our family with all the big families😂) I was worried about whether they would actually test for FXS because they didn't routinely do that 20 years ago. We attempted to do IVF with PGD to have a 3rd child without FXS but that failed. Then 1 month before we were starting our 2nd cycle, I found out I was pregnant. Amniocentesis test to check for FXS, positive, and we donated his cord blood & cord to FXS research (they were giddy) and i was prepared for all the possible complications except the 2 that happened. He couldn't breath well enough due to his heart not pumping strongly enough so he was intubated in the NICU right away. Then less than 48 hours later, in the middle of the nurses' 2am shift change, he came out of sedation & yanked on his tube, partially extubating himself. Freaked everyone out but his numbers all stayed perfect as if he was still intubated so they fully removed the tube & he was great! Low muscle tone is common in FXS and the heart is a muscle so they think it just needed a little help to get going. He came home after a week which is a very short NICU stay & no heart issues after that. He's now 19. I wouldn't change my boys for anything because they're exactly who they're supposed to be but it has been a HARD road & it doesn't really get easier as they age, it just gets hard in different ways. Like my oldest wants "my own place, Mom!" but he can't live independently so he's decided he is too old to have to do chores around the house 🙄 & he's way bigger than me now so I have to try to train with him rather than physically help him to do different things he needs help with or that he's supposed to be doing. We're looking into group homes.
Anyway, thanks for sharing your journey! I'm so excited for you guys! 💗
Hi! I’m a FXS carrier. I saw Charlie mention FXS and I was happy to see it. I have two bio kids, one adopted and neither of my bio kids are even carriers. We found out I was a carrier when I was pregnant with my oldest and had an amnio (something our families didn’t seem to agree with but your youngest’s complications at birth were part of the reason we wanted to know). I told my family as I had suspected I have a set of paternal cousins with FXS. My other cousins who were starting to want to have children got tested and are carriers, our dads obviously are carriers from their mom. My cousins have struggled with infertility. I’m not sure if their children are affected as it’s just not talked about. I now have POI (I’m basically post menopausal) and I think I’m seeing the atraxia symptoms in my dad. Our last child was a surprise and I’m not sure why we were playing it so fast and loose so to speak because we had been told we should do IVF in the future. I don’t think I was as aware of the impact of just being a carrier. I have talked with researchers at Purdue about being part of a study for carriers but didn’t qualify because they were looking for carriers who didn’t struggle with mental health symptoms by the time I spoke with them. Are you part of the fragile x group on Facebook? That’s how I found out about the Purdue study. I have read carriers are higher risk for mental health struggles, insomnia, adhd, struggles with math- all me 🫠 combine that with the POI which I didn’t realize I was dealing with I had a rough few years! I’m on HRT now and feel a lot better. I never comment on substack articles but just wanted to say hi to a fellow carrier ❤️
So I wrote a whole reply to you and then I lost it! 🤦♀️ i haven't had contact with Purdue but we've gone to the MIND Institute at UC Davis in Sacramento a lot over the years for research studies and stuff. We're trying to get on the schedule right now cause they want me in the female carrier FXTAS study. I have all of the same carrier issues as you mentions plus autimmune diseases which were also more prone to getting. Fun times! 😒 I'm 48 and started peri symptoms at 34 so I've been on HRT but I don't think they've gotten it quite right for me. My dad has had FXTAS for about 20 years but it was progressing very slowly until 2020 when he received the 1st Covid vax and it triggered him to get Gillain Barre. No more of those for him! He couldn't even walk within 24 hours. Someone had to be with him all the time to help him eat, transfer to bed, go to the bathroom, etc. They finally got him IVIG and he was able to stand alone after the 1st of 4 treatments! He's never gotten back to where he was before that and we think it accelerated his FXTAS progression because he's declined rapidly since then. The worst part is the personality changes which seem to be connected with the memory issues but he says things sometimes, more and more often, that are so unlike him and can be really hurtful.
I am on the various FXS Facebook groups for FXS, FXS female carriers, FXTAS, etc. Are you in the LDS and Fragile X Parents group? We've not been super active for a while but someone posts once in a while. I think it's partly because it's still really small so it's just not as active as the bigger groups.
I'm glad you said hi & that I wasn't the only freak who got excited that Charlie mentioned FXS!😂 How can we connect outside of these comments?🤔
I'm so happy for you guys! I was really excited to see you mention Fragile X Syndrome as one of your examples for genetic carriers because most people have never heard of it, including doctors! I have a 27 year old son who was diagnosed with FXS at 3½ years old (September 16, 2002 was a ROUGH day for this mama!) and he is considered "patient zero" for our family because he was the 1st to be diagnosed. I learned about FXS from a women's magazine article BTW and the pediatrician argued with be for 45 minutes just over whether to do the DNA blood test or not. I was so mad when he was transferred elsewhere(military) before the results came back. I really wanted to see his face when it was positive. I was 99.99999999% positive it would be a I have an uncle with all the facial features & a lot of the characteristics. We then had my 6 month old 2nd son tested ("unaffected" a teen i hate because have 2 siblings with any disability absolutely affects you!) & my parents both got tested, though we were sure it came from my dad's side, and we were right. He talked to his parents & siblings who all agreed to get tested. It's X linked so we knew his mom had to be the carrier but then her siblings started testing and at least some of her sisters are NOT carriers, which means she inherited it from her mother. My dad is the only carrier and 1 of his brothers is what's called a "mosaic" which is actually what my oldest is too. They are both a carrier(partial mutation) & full mutation. He been married for decades, had to grown children & a grandchild in the way, but that meant my cousin would be a carrier too so she needed to be informed. My dad & grandparents went to my aunt & uncle's home to give them the news and suggest he be tested. My aunt cried because she said it was such a relief to know what made her husband different. My dad flew with him to Sacramento to see a specialist (1 of THE experts in the world) a couple of times which was helpful for them as they hadn't been able to meet and do research on older adult men who have FXS. (They live our family with all the big families😂) I was worried about whether they would actually test for FXS because they didn't routinely do that 20 years ago. We attempted to do IVF with PGD to have a 3rd child without FXS but that failed. Then 1 month before we were starting our 2nd cycle, I found out I was pregnant. Amniocentesis test to check for FXS, positive, and we donated his cord blood & cord to FXS research (they were giddy) and i was prepared for all the possible complications except the 2 that happened. He couldn't breath well enough due to his heart not pumping strongly enough so he was intubated in the NICU right away. Then less than 48 hours later, in the middle of the nurses' 2am shift change, he came out of sedation & yanked on his tube, partially extubating himself. Freaked everyone out but his numbers all stayed perfect as if he was still intubated so they fully removed the tube & he was great! Low muscle tone is common in FXS and the heart is a muscle so they think it just needed a little help to get going. He came home after a week which is a very short NICU stay & no heart issues after that. He's now 19. I wouldn't change my boys for anything because they're exactly who they're supposed to be but it has been a HARD road & it doesn't really get easier as they age, it just gets hard in different ways. Like my oldest wants "my own place, Mom!" but he can't live independently so he's decided he is too old to have to do chores around the house 🙄 & he's way bigger than me now so I have to try to train with him rather than physically help him to do different things he needs help with or that he's supposed to be doing. We're looking into group homes.
Anyway, thanks for sharing your journey! I'm so excited for you guys! 💗
Hi! I’m a FXS carrier. I saw Charlie mention FXS and I was happy to see it. I have two bio kids, one adopted and neither of my bio kids are even carriers. We found out I was a carrier when I was pregnant with my oldest and had an amnio (something our families didn’t seem to agree with but your youngest’s complications at birth were part of the reason we wanted to know). I told my family as I had suspected I have a set of paternal cousins with FXS. My other cousins who were starting to want to have children got tested and are carriers, our dads obviously are carriers from their mom. My cousins have struggled with infertility. I’m not sure if their children are affected as it’s just not talked about. I now have POI (I’m basically post menopausal) and I think I’m seeing the atraxia symptoms in my dad. Our last child was a surprise and I’m not sure why we were playing it so fast and loose so to speak because we had been told we should do IVF in the future. I don’t think I was as aware of the impact of just being a carrier. I have talked with researchers at Purdue about being part of a study for carriers but didn’t qualify because they were looking for carriers who didn’t struggle with mental health symptoms by the time I spoke with them. Are you part of the fragile x group on Facebook? That’s how I found out about the Purdue study. I have read carriers are higher risk for mental health struggles, insomnia, adhd, struggles with math- all me 🫠 combine that with the POI which I didn’t realize I was dealing with I had a rough few years! I’m on HRT now and feel a lot better. I never comment on substack articles but just wanted to say hi to a fellow carrier ❤️
So I wrote a whole reply to you and then I lost it! 🤦♀️ i haven't had contact with Purdue but we've gone to the MIND Institute at UC Davis in Sacramento a lot over the years for research studies and stuff. We're trying to get on the schedule right now cause they want me in the female carrier FXTAS study. I have all of the same carrier issues as you mentions plus autimmune diseases which were also more prone to getting. Fun times! 😒 I'm 48 and started peri symptoms at 34 so I've been on HRT but I don't think they've gotten it quite right for me. My dad has had FXTAS for about 20 years but it was progressing very slowly until 2020 when he received the 1st Covid vax and it triggered him to get Gillain Barre. No more of those for him! He couldn't even walk within 24 hours. Someone had to be with him all the time to help him eat, transfer to bed, go to the bathroom, etc. They finally got him IVIG and he was able to stand alone after the 1st of 4 treatments! He's never gotten back to where he was before that and we think it accelerated his FXTAS progression because he's declined rapidly since then. The worst part is the personality changes which seem to be connected with the memory issues but he says things sometimes, more and more often, that are so unlike him and can be really hurtful.
I am on the various FXS Facebook groups for FXS, FXS female carriers, FXTAS, etc. Are you in the LDS and Fragile X Parents group? We've not been super active for a while but someone posts once in a while. I think it's partly because it's still really small so it's just not as active as the bigger groups.
I'm glad you said hi & that I wasn't the only freak who got excited that Charlie mentioned FXS!😂 How can we connect outside of these comments?🤔
Please tell us what Ryan all takes?? Curious minds want to know🙏🏻🙏🏻