Hi, I'm 24 Female and a carrier for the genetically passed on disease Alport Syndrome. My family has a long history of this little bugger but I feel that there isn't enough information out there about this particular affliction.
My grandmother's father passed it to her BUT no one is her family GOT it/ had symptoms. I've heard it is known to skip a generation. My mother is a carrier and my uncle HAS it. He suffered renal failure I believe in his early 20's. Luckily my mother was a match and donated 1 of her kidneys to him (he is still alive despite the life expectancy having been passed a few years ago) ;) His children are all boys and thus do not carry or pass it. My eldest brother HAS it and 4 years ago suffered renal failure. My elder sister was a match and donated 1 of her kidneys to him (he is doing great). I obviously carry it like I stated above. My brother's daughter is like me and is also a carrier.
If you ask your every day Dr. or even some specialists (which my sister-in-law hounded every visit during my brother's failure) most will tell you that carriers do not exhibit any symptoms. I believe this to be utter garbage. True I only have a few family members to base this off of but my mother has had horrible vision, hearing loss, and even experiences blood in her urine when sick. My niece has problems with blood in her urine when sick but has yet to show any signs of hearing or vision impairment. I seem to be a little better off with only vision problems.
:mad:This disease is a horrible thing to have happen, the emotional and physical trauma my family has gone through again and again is something I would NEVER wish on anyone. This topic deserves better research and awareness! True with medical advancements I can do things to prevent passing this on to future generations and kidney transplant surgery within 1 generation has come leaps and bounds, which I am grateful, but the information is still so hard to find that keeping informed is ridiculous.
I am curious about others out there that also have this in their families and if they have found better knowledge of this disease that could come in handy when visiting a Dr. ( I recently underwent a major surgery in which they were concerned about my kidney health. . . I told them of my conditions and they were a little wary on exactly how to judge the possibility of problems. I feel I need a pamphlet to bring with when visiting the Dr.s.)
What are your stories and findings?