Blind and Visually Impaired Community
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Choroidemia carriers CHM (self.Blind)
submitted by dlc2889
Hi,
Anyone experience with choroidemia? I feel like I need to vent, sorry if i’m violating any group rules
I’m a 29 y.o. Female, always used glasses and had eye corrective surgery when I was 21... now 9 years later I hd an episode of optic neuritis... which led to oftalmologist finding pigment in my retina on my left eye.
My uncle on my mom’s side has choroidemia and is pretty much blind, this affects mostly men. Doctors say my symptoms might stay the same or be mild since it’s not common for women to have chm.
I just found out i’m 6 weeks pregnant so the doctor suggested genetic test to know if i am an active carrier but said from the scans he is “almost 100% sure” i had a genetic blood test for chm done today and will get results in about 6 weeks.
I feel so incredibly sad for my unborn children, i feel devastated. I am thankful for me it means probably living with difficulty to see in dim light, but that’s pretty mild and let’s me go on with my day to day. But how fo you cope with the idea of passing a gene to your future children? I am not ready to decide not to have kids, and the doctor says Through IVF you could isolate the gene ..which is an idea for my future children if test comes back positive but there is already one on the way , I wish i knew about these testing sooner. Anyone can recommend any support/coping suggestions? I feel like my world is coming down appart.
Anyone experience with choroidemia? I feel like I need to vent, sorry if i’m violating any group rules
I’m a 29 y.o. Female, always used glasses and had eye corrective surgery when I was 21... now 9 years later I hd an episode of optic neuritis... which led to oftalmologist finding pigment in my retina on my left eye.
My uncle on my mom’s side has choroidemia and is pretty much blind, this affects mostly men. Doctors say my symptoms might stay the same or be mild since it’s not common for women to have chm.
I just found out i’m 6 weeks pregnant so the doctor suggested genetic test to know if i am an active carrier but said from the scans he is “almost 100% sure” i had a genetic blood test for chm done today and will get results in about 6 weeks.
I feel so incredibly sad for my unborn children, i feel devastated. I am thankful for me it means probably living with difficulty to see in dim light, but that’s pretty mild and let’s me go on with my day to day. But how fo you cope with the idea of passing a gene to your future children? I am not ready to decide not to have kids, and the doctor says Through IVF you could isolate the gene ..which is an idea for my future children if test comes back positive but there is already one on the way , I wish i knew about these testing sooner. Anyone can recommend any support/coping suggestions? I feel like my world is coming down appart.
OutWestTexas 2 points 4y ago
Mom of three here. One has inherited my eye problems. I wouldn’t change a thing. Don’t fret about what might happen. Medical advances are coming quickly. My son has had a great life so far, full of adventure. Like I said, I wouldn’t change a thing.
dlc2889 [OP] 1 points 4y ago
Thank you your words mean a lot right now. I feel my head is a mess, I just heard all this today and found out about the pregnancy just last week so it’s all a bit too overwhelming. The doctor did try to make quite some emphasis on the gene therapy and all, so I am trying to process the news. Thanks a lot for your reply, you have no idea how much it has helped me.
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