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.

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Inherited kidney disease – carriers’ guilt?

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