I keep forgetting that its not just my family and friends that is reading my blog, I am going to explain what I have.
I was born with a hearing impairment. Pretty common and understood by the public.
I have Retinitis Pigmentosa, or tunnel vision. Not as common but generally the public knows about or heard of it.
Combine the two and it's called Usher's Syndrome. Very rare, other than an eye doc, the public doesn't know.
I also have Vitiligo, white spots on skin caused by the pigment dying off, also another rare disease that isn't seen very often. Very rare for a white woman to have, mostly common in black males. Remember Michael Jackson?
I am a part of a genetic study, have been since I was 15, at Boys Town in Omaha. I was diagnosed there and my family all participated on the blood tests.
Usher's syndrome is a what I call the "Crap Shoot" disease. Both parents HAVE to carry the disease for it to carry on to the children. Both my parents, 1 million to 1 odds that they met in Nebraska at the same time. And had me.... I rather wish we won the lottery with those odds!
My brother is only a carrier with the dormant gene. If my brother has kids with a woman with the same gene, the chances goes up for one of his kids to have Ushers.
Since I have Ushers, all my kids are a carrier of the dormant gene. So far none have the symptoms. The odd thing is even if they don't have Ushers, they can develop Retinitis Pigmentosa later in life.
This is where I am going to confuse you a bit. Boys Town has found the DNA marker for Ushers. Do you remember that 1 million to 1 odds? Well increase it to 5 million to 1, they can't find my DNA marker. The last time I spoke with the geneticist, as soon as I tell them my name, they say "Oh! You're the one we can't find the marker!" well, I'm glad you know me but that doesn't make me feel better! The geneticist is almost wondering if my vitiligo has something to do with my RP. Retinitis Pigmentosa is your pigment dying in your eyes. Vitiligo is your pigment dying on your skin....... Is there a connection? So far we still don't know. Maybe I can get it named after me! Lol.
I found a great video stimulation for what its like to have RP and finally a demonstration on why I can still "see" in what vision I do have.
http://www.youtube.com/watch?v=MU1JZmUac98&feature=youtube_gdata_player
I think my attention to detail when I crochet or do another craft is higher now than it used to be. Since I can only see one small area at a time. I don't see the overall product until I am done. I work on one piece at a time, put it together and Voila!
I hope this gives you an understanding of what I have.
Daily Task: Tonight when it's dark out (if its clear) study the stars.
I can no longer see them and it was my favorite thing to do growing up. Now my husband and in the past my friends will take me out and describe it for me and I can mentally see it again.
I was born with a hearing impairment. Pretty common and understood by the public.
I have Retinitis Pigmentosa, or tunnel vision. Not as common but generally the public knows about or heard of it.
Combine the two and it's called Usher's Syndrome. Very rare, other than an eye doc, the public doesn't know.
I also have Vitiligo, white spots on skin caused by the pigment dying off, also another rare disease that isn't seen very often. Very rare for a white woman to have, mostly common in black males. Remember Michael Jackson?
I am a part of a genetic study, have been since I was 15, at Boys Town in Omaha. I was diagnosed there and my family all participated on the blood tests.
Usher's syndrome is a what I call the "Crap Shoot" disease. Both parents HAVE to carry the disease for it to carry on to the children. Both my parents, 1 million to 1 odds that they met in Nebraska at the same time. And had me.... I rather wish we won the lottery with those odds!
My brother is only a carrier with the dormant gene. If my brother has kids with a woman with the same gene, the chances goes up for one of his kids to have Ushers.
Since I have Ushers, all my kids are a carrier of the dormant gene. So far none have the symptoms. The odd thing is even if they don't have Ushers, they can develop Retinitis Pigmentosa later in life.
This is where I am going to confuse you a bit. Boys Town has found the DNA marker for Ushers. Do you remember that 1 million to 1 odds? Well increase it to 5 million to 1, they can't find my DNA marker. The last time I spoke with the geneticist, as soon as I tell them my name, they say "Oh! You're the one we can't find the marker!" well, I'm glad you know me but that doesn't make me feel better! The geneticist is almost wondering if my vitiligo has something to do with my RP. Retinitis Pigmentosa is your pigment dying in your eyes. Vitiligo is your pigment dying on your skin....... Is there a connection? So far we still don't know. Maybe I can get it named after me! Lol.
I found a great video stimulation for what its like to have RP and finally a demonstration on why I can still "see" in what vision I do have.
http://www.youtube.com/watch?v=MU1JZmUac98&feature=youtube_gdata_player
I think my attention to detail when I crochet or do another craft is higher now than it used to be. Since I can only see one small area at a time. I don't see the overall product until I am done. I work on one piece at a time, put it together and Voila!
I hope this gives you an understanding of what I have.
Daily Task: Tonight when it's dark out (if its clear) study the stars.
I can no longer see them and it was my favorite thing to do growing up. Now my husband and in the past my friends will take me out and describe it for me and I can mentally see it again.
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