This is the story of our family disease, called hereditary nephritis, or Alport syndrome.
The first time I remember my father being sick, I was 14 years old. We went to the beach for a vacation and had to leave early because my Daddy's ankles were so swollen he could not walk. They put him in the hospital and ran tests. They knew he had albumin in his urine and they thought infection. They pulled his teeth, I don't know why -- I guess thinking infection might be coming from there. He had the most beautiful teeth. Anyway, this was the first I knew he was sick. Long before that, when W.W.II started, he tried to enlist and was denied. My Dad died in 1962 after two strokes and a major heart attack. While we now believe that Dad and his brother, who died at 30, both had Alport syndrome, the doctors told us it was not hereditary, so my sister and I had children. She had three boys. All three were diagnosed with hereditary nephritis when they were very young, at 7, 9, and 12. Then, my son when he was 6.
My son was the first in his generation to have renal failure, at 24. Three years after a transplant, following five years on dialysis, he looks and feels wonderful, and is working. He and his wife just had a beautiful set of twins, a boy and a girl. About a year later than my son, my middle nephew had kidney failure, at 32; and then my sister's youngest at 30. Her oldest son at 40 has not had renal failure yet, but has just developed high blood pressure.
When my daughter became pregnant with her third child, she met a geneticist who knew about the work being done at the University of Utah. We were asked to participate by the whole family donating blood to help identify "markers" for genetic tests that might predict carriers and find those affected; the results of those studies of our family and many others helped do this. It told us that my daughter was a gene-carrier, like my sister and myself, and that both her sons, 7 and 14, are affected. We are knowledgeable now about their condition and can take precautions that might help stave off renal failure for a longer time. In fact, the l4 year old is taking capoten now; hopefully, this will help. He has not experienced any kidney failure or symptoms at this time. The studies also told us that my other daughter and her son do not have the Alport gene.
I want to learn how and why my family has inherited this disease. My father was raised by relatives, and I am trying to find his sisters that he last saw when he was 5. With my genealogy research and the genetics results from University of Utah, we have determined that Alport syndrome came from my Dad's maternal grandmother, who was born in Tennessee and moved to Ohio when she married. Thus in six generations of my family we have at least six men or boys with fatal, serious, or potentially serious hereditary kidney disease, and at least six female gene-carriers. While this is a devastating thing to happen to a family, we feel fortunate that the University of Utah undertook the task of researching this disease. It has given us hope for the future of my six grandchildren and my sister's eight. My fervent prayer is someday they will find a way to take out the defective gene. With the support and money donated to kidney research, this can be a reality. Thousands of people scattered across the U.S. have similar or the same disease as ours, and many may be my distant relatives. I plan to keep searching my genealogical connections to all my cousins with Alport syndrome, so that together we may further help with the research.