- Messages
- 3
Hi Valentijn,
Yes I was a little surprised about the Cohen's marker. I have a feeling that it may have been what a great great uncle of mine in the late 1800's had. Judging by photographs and the information passed down. The albinism of course, I have had since birth (I know you cannot tell by my picture since I wear make up and stuff, but look at my arm) I am actually in an albinism study at the NIH in Bethesda, Maryland and I am the first person to start a trial drug called nitisinone (Orfadin) to cure albinism. More so because of vision problems and not just for vanity. People with albinism have HORRIBLE vision because of the lack of pigment. The Fuchs Corneal dystrophy I definitely have due to the appearance of gutatta on my corneas and I found out about that before 23andme. I did find a marker in my genome that was thought to be connected. Although I am sure that you know that many conditions, particularly ones dealing with connective tissue are still in the early stages of research and discovery. I was diagnosed with EDS before 23andme as well, but I haven't found a solid indication of it. Long QT, I had seen the rare marker on KCNE2 for it but thought nothing of it. When I was at the NIH, they said that my EKG showed a slightly elongated QT interval, and I said "Oh yeah, I found a genetic marker for that in my genome." Later, I told my dad and he said that he was diagnosed with Long QT in 1989 but never mentioned it because he didn't think it was a big deal. And the Cystic Fibrosis, I knew that I was a carrier since a few years ago when my husband and I went for a fertility work up and I had a little genetic panel done to see if I carried any common conditions. I have had numerous other relatives with CF so I wasn't surprised. As you mentioned, some carriers present with mild symptoms of the condition, and my DeltaF508 mutation for CF is one of those. I have chronic bronchitis and sinus issues. Johns Hopkins Hospital did a research study on that and found that it is true, although it is difficult for me to convince doctors that this is the cause of my issues. I think it is because of the misconception of how genes and cells actually work. I get a lot of respect and props from the doctors at the NIH because of my knowledge of genetics (which I know is still very feeble compared to doctors there) but my knowledge of genetics and how they work is still higher than most doctors practicing in our neighborhoods and not involved in research. My doctors at the NIH are some of the top in their field and specialties and have taken the time to also answer questions for me and help me learn even more about genetics. it really is very complex. The more that I learn, the more that I realize how much that I do not know and understand yet. I must be a true nerd at heart because I find it fascinating enough to stay up late nights on end, reading medical and genetic research documents on my ipad in bed, instead of sleeping, like its a thrilling novel or something, haha.
Yes I was a little surprised about the Cohen's marker. I have a feeling that it may have been what a great great uncle of mine in the late 1800's had. Judging by photographs and the information passed down. The albinism of course, I have had since birth (I know you cannot tell by my picture since I wear make up and stuff, but look at my arm) I am actually in an albinism study at the NIH in Bethesda, Maryland and I am the first person to start a trial drug called nitisinone (Orfadin) to cure albinism. More so because of vision problems and not just for vanity. People with albinism have HORRIBLE vision because of the lack of pigment. The Fuchs Corneal dystrophy I definitely have due to the appearance of gutatta on my corneas and I found out about that before 23andme. I did find a marker in my genome that was thought to be connected. Although I am sure that you know that many conditions, particularly ones dealing with connective tissue are still in the early stages of research and discovery. I was diagnosed with EDS before 23andme as well, but I haven't found a solid indication of it. Long QT, I had seen the rare marker on KCNE2 for it but thought nothing of it. When I was at the NIH, they said that my EKG showed a slightly elongated QT interval, and I said "Oh yeah, I found a genetic marker for that in my genome." Later, I told my dad and he said that he was diagnosed with Long QT in 1989 but never mentioned it because he didn't think it was a big deal. And the Cystic Fibrosis, I knew that I was a carrier since a few years ago when my husband and I went for a fertility work up and I had a little genetic panel done to see if I carried any common conditions. I have had numerous other relatives with CF so I wasn't surprised. As you mentioned, some carriers present with mild symptoms of the condition, and my DeltaF508 mutation for CF is one of those. I have chronic bronchitis and sinus issues. Johns Hopkins Hospital did a research study on that and found that it is true, although it is difficult for me to convince doctors that this is the cause of my issues. I think it is because of the misconception of how genes and cells actually work. I get a lot of respect and props from the doctors at the NIH because of my knowledge of genetics (which I know is still very feeble compared to doctors there) but my knowledge of genetics and how they work is still higher than most doctors practicing in our neighborhoods and not involved in research. My doctors at the NIH are some of the top in their field and specialties and have taken the time to also answer questions for me and help me learn even more about genetics. it really is very complex. The more that I learn, the more that I realize how much that I do not know and understand yet. I must be a true nerd at heart because I find it fascinating enough to stay up late nights on end, reading medical and genetic research documents on my ipad in bed, instead of sleeping, like its a thrilling novel or something, haha.