Inherited kidney disease – carriers’ guilt?

kidneyimageMy 21-year-old nephew is ill, his kidneys failing. We’ve known for years this would happen eventually. Alport Syndrome, the kidney disease in our family, is relatively rare. But it progressively damages the tiny blood vessels in the glomeruli of the kidneys (the kidney’s filtering system in the basement membrane of the kidney) to the point that eventually they can no longer filter wastes and extra fluid from the body. It’s caused by a mutation in a gene for a protein in the connective tissue, called collagen that progressively affects the kidneys and may affect the eyes and ears. In my family, we don’t know of anyone whose hearing was directly affected by Alport Syndrome and while a number of us wear glasses, it’s unclear whether this is because of Alport’s.

My nephew’s situation hits close to home because my 19-year-old son has the same disease. Besides worrying about my nephew, his situation has me thinking that we could be in the same position in only a few years.

When our sons were born, neither my sister nor I knew we were “carriers” for Alport Syndrome, which in our family is the “X-linked” transmission type, passed down by mothers to sons. We discovered our connection to Alport’s when my nephew was three years old. He’d contracted an illness and doctors were checking his urine to see if the infection had cleared. They noticed hematuria, microscopic amounts of blood in his urine. A doctor asked, is there kidney disease in the family?

Of course there was. It wasn’t in my mother’s immediate family but two of my great aunt’s three sons died of the disease. Other relatives had it. We didn’t know much about it but what we’d heard was scary.

My sister and mother had their urine checked for hematuria. I was urged to do the same. It was shocking for my mother to discover her daughters are carriers. She feels terrible about it.

Over the years I’ve felt sad that I brought two sons into this world with this disease, not because of their existence but because chronic kidney disease is no fun. Yet I don’t think I should feel guilty about being a carrier or not knowing that one of my X chromosomes had a “defect.”

I hate the disease and what it does to the affected male members of our family but I don’t hate my genes if that makes any sense. The disease is just one small part of my DNA and my family’s DNA and it doesn’t define who we are.

The men in our family affected by Alport’s who died in their 40s didn’t have access to the incredible medical care available today. As I understand it, my relatives received kidneys from cadaver donors. I don’t know what kind of screening was done to make sure the transplanted kidneys were a match for their bodies but as I understand it, they underwent more than one kidney transplant throughout their lives. Undergoing dialysis, experiencing their bodies rejecting transplanted organs, taking powerful medication and having many kidney transplants was hard on their bodies.

Today a young person experiencing kidney failure may receive a kidney from a living donor. Doctors do blood tests to see if a donor’s blood type is compatible with the recipient’s and if it is, further blood tests (tissue typing and cross-matching) are done to ensure a match. A living donation means better donor organ survival rates, there’s less waiting and the recipient may even avoid dialysis.

Until now it’s been a waiting game for my son and nephew. We knew they had the disease but their kidneys were healthy enough. Besides visiting nephrologists and receiving prescriptions for blood pressure medication to take pressure off the kidneys, there’s been nothing to discuss.

Now my sister is caring for my nephew and it’s a crash course in hemoglobin, potassium, phosphate and creatinine levels. She knows all about the renal diet, different types of dialysis,  the location of the MUHC’s three dialysis centres and which one to take my nephew to and when, that blood transfusions are a bad idea for a person who needs a kidney transplant, the list goes on.

I’m sorry I don’t have any relatives to talk to about this disease. I’m sure the cousins who died would have wanted to live a lot longer than they did. I only met them briefly but from what I remember they were intelligent, interesting folks, hard workers who made the most of their lives.

Right now a kidney transplant from a living donor is my nephew’s best bet. Thankfully his odds are excellent. A number of people have offered to donate a kidney and when his body is stronger and a match is found, he’ll receive a transplant.

My sons and nephew are blessed with amazing medical care and there are all sorts of potential cures on the horizon for Alport Syndrome and other kidney diseases.

I don’t know what else to do but learn more about Alport Syndrome, talk to people living with it or whose loved ones have it and prepare for when my son’s kidneys fail.  I’ll raise funds and give to groups such as the Kidney Foundation of Canada, whose staff and volunteers have already helped me tremendously with information and support, and the Alport Syndrome Foundation, an incredible organization that not only helps people living with this devastating disease realize they’re not alone, it advocates for people and funds research to find a cure to end Alport Syndrome forever.


How a small pill helps fight kidney disease

I don’t talk about this much.anatomical drawing of kidney

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?