I’m a carrier for a rare hereditary kidney disease called Alport Syndrome. The clue that confirms this is I have something called persistent hematuria – red blood cells can always be detected in my urine at the microscopic level. Other than being borderline anemic, this kidney disease doesn’t appear to have any effect on my health.
But I’m raising a son with the full-blown disease.
There are different types of Alport Syndrome. In our family Alport Syndrome is X-linked, the most common form. As a woman I have two X chromosomes. There is a defective gene on one of the X chromosomes. Since I have one normal X chromosome and one defective X chromosome, this means there’s a 50/50 chance that any child I give birth to will either be a “carrier” for the disease if they’re a girl, or inherit the full-blown disease if they’re a boy.
I had no idea I was a “carrier” for kidney disease. We knew Alport Syndrome was in our family on my mom’s side. But we never considered the possibility that this disease could affect us.
I remember in my early 20s undergoing tests for a urinary tract infection and being told the lab had found microscopic amounts of blood in my urine. When I asked about the cause, the health clinic’s staff told me they weren’t sure and not to worry since it wasn’t affecting my health.
It was during Christmas holidays in 1998 that we discovered the disease was lurking in our branch of the family. My then three-year-old nephew had been hospitalized for salmonella poisoning. While it seemed the antibiotics were working, the lab kept finding blood in his urine. Doctors at the Montreal Children’s asked if we had kidney disease in our family. We were in shock. We never imagined that a disease that affected several distant relatives could also belong to us.
Several of our male cousins underwent multiple kidney transplants and died young. They would go into kidney failure at age 20 or 21, suffer organ rejection after a several kidney transplants and die in their 40s. Learning that this disease could affect my nephew was frightening.
My mom and my sister were checked. Both had hematuria. I dragged my feet on getting checked because I knew I had it. I had my son tested and was saddened to learn I had passed the disease to him. My youngest sister discovered she’s a “carrier” too. This meant our mom had given birth to three daughters who are “carriers” for Alport Syndrome. What were the odds?
My nephew was referred to the Montreal Children’s Nephrology Department and soon after, my son. We lucked out at the Children’s when we met Dr. Paul Goodyer, the head of Pediatric Nephrology. Not only is he a fantastic doctor and researcher, he also happens to be Canada’s leading expert on Alport Syndrome.
Alport Syndrome is degenerative. The mutation in the gene affects the collagen, the protein in the connective tissue. The disease may affect the inner ear and eyes (in our family the hearing loss typically associated with the disease doesn’t appear to be an issue) and it affects the tiny blood vessels in the kidney’s glomerular basement membranes. These membranes play an important role in kidney function. They act as filters, keeping red blood cells and protein in the body. They remove waste products and water from the blood and create urine. Eventually the membranes break down and the kidneys no longer function properly, causing fluid and waste products to build up in the body. Right now dialysis and kidney transplants are the only treatments offered to people living with full-blown Alport Syndrome once the kidneys have failed.
There’s a blessing in having this disease detected early. Dr. Goodyer invited us to participate in an experiment of sorts. His theory was that by having my nephew and son take blood pressure medication daily, this would slow down kidney failure by stopping the loss of protein (a condition known as proteinuria).
At first I wasn’t comfortable with the idea of having my young child on blood pressure pills. I dragged my feet about taking my son to nephrology appointments. He was already seeing the Pediatric Ear, Nose and Throat Clinic and later, the Pediatric Asthma Clinic. Besides, with the way the disease progresses in our family, there appeared to be no chance of his kidneys starting to fail until he was in his teens. Eventually we went for the annual check-up and I followed Dr. Goodyer’s advice and filled the prescription. My sister was more diligent and my nephew has been taking Cozaar (Losartan) longer.
The medication appears to be working. My nephew turns 18 this year and so far there are no signs his kidneys are failing. Ditto for my son, who’s going on 16.
We don’t know how long these blood pressure pills will work their magic but Dr. Goodyer says it will likely be years before we even have to think about kidney transplants. And by then other ways of repairing the kidneys may even be viable.
In the meantime I am grateful for the blood pressure medication.
Who knew a small pill could make such a difference?