It’s one of the most prevalent life-threatening genetic diseases, 12.5 million people worldwide have it— 38,000 of whom live in New York. In some cases, it causes high blood pressure, aneurysms, diverticulitis, hernias and chronic pain. In all cases, it causes cysts to grow in the kidneys, slowly destroying kidney function. This disease is polycystic kidney disease, or PKD.
While few people have heard of PKD, I live with it. My father was diagnosed when I was a child, and I watched as he modified his diet, exercised, went on dialysis at age 48 and, finally, received a kidney transplant at age 52. Now at 66, my father’s new kidney is still going strong, but not without the daily complications of anti-rejection medications.
This genetic disease is all over my family tree. My great-grandfather died at the age of 48 from kidney failure. My grandmother and uncle had PKD, and my aunt is on dialysis. My sister, cousin and I comprise the fourth generation to have the disease.
When someone has autosomal dominant polycystic kidney disease (ADPKD), there is a 50 percent chance of passing it on to offspring. I was diagnosed with PKD following a kidney infection at the age of 18. To date, I’ve had comparatively minimal complications, such as kidney infection and hypertension. But with no treatment or cure for PKD, I know more complications may lurk in my future.
Michele and Matt Karl of White Plains didn’t know anything about PKD when Michele became pregnant with their third son, Gabriel. But late in the pregnancy, Michele discovered she had no amniotic fluid and the baby’s kidneys looked enlarged. Following a Caesarean section, Gabriel began having breathing difficulties and was placed on a ventilator. Further testing revealed that his kidneys were abnormal and a formal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) was soon made.
Like ADPKD, ARPKD is genetic. In the recessive form of this disease, however, the parents don’t actually have PKD. Instead, both parents carry the gene, sometimes unknowingly, and have a 25 percent chance of passing it to their offspring.
ARPKD can begin causing complications in utero that can be devastating. Once parents become aware of the possibility of such a gene, testing should commence. Though Nate and Max, the older boys in the Karl family, were healthy, their nephrologist recommended they be tested. Then Max was diagnosed. Fortunately for the Karls, the boys’ cases currently appear to be mild. Still, PKD causes a lot of stress. “We have daily reminders that the boys have this kidney disease while we give them their medications and take their blood pressure,” Michele says. “We always have to think about their kidneys and if certain things will affect them, such as sports and food.”
The Karls try to give the boys as normal a childhood as possible while squeezing in doctors’ appointments, blood draws, sonograms, medications and trips to the National Institutes of Health, where the family is involved in a study. Many parents with babies who are diagnosed with ARPKD in utero or at birth are told that their child has little chance of survival.
Advocating about PKD has become a mission for Michele Karl. She found support from other families with children who have ARPKD. And she is now helping families nationwide obtain support and information. Often in the darkest hours following a grim diagnosis, parents discover there is hope from Michele. Yes, the reality is some infants die from ARPKD, and those who survive infancy will often need kidney transplants during childhood.
Gabriel and Max, now 3 and 9, are enjoying a relatively normal childhood. Polycystic kidney disease research has had major breakthroughs during the past decade, and there are new clinical trials available every year, giving hope of a treatment in the near future.
For my family, the Karl family and all of the families affected by polycystic kidney disease, it is important to stay informed, maintain a healthy lifestyle and remain optimistic. Like Michele, I have found strength and hope in the support of others to be a huge help in coping with PKD and believing in an eventual cure. One place we are all able to turn to for help is the PKD Foundation. The foundation is the only organization in the world solely dedicated to finding a cure for PKD and advocating for the families affected by the disease.