Shared Struggle Bonds Mother and Daughters
By Kelly Bothum
The News Journal
February 28, 2006
Like any proud mother, Shelley Minch can’t help but smile when talking about the successes of her three grown daughters: Catey Minch Clark, a middle-school science teacher, Hannah, a veterinary student, and Mamie, a blues singer in New York City. It’s easy to see the close relationship she shares with each of them.
But Minch’s bond with Catey and Hannah goes beyond the confines of the typical mother-daughter alliance.
The three are linked by a shared ailment: polycystic kidney disease, a genetic disorder that stole years from Minch’s mother and grandmother, both strong women named Ada Montanus. The disease claimed her mother’s life at 59. Her grandmother was in her 40s when she died.
Unlike them, Minch, 59, received a kidney from a close friend after spending four years on dialysis and having both kidneys removed. Her daughters, who are in their 20s, are without symptoms so far.
“I’m out to set a record for my family,” said Minch of Talleyville. “This disease has robbed my family of its maternal history.”
Polycystic kidney disease, or PKD, as it is often known, is the most common inherited disorder causing renal failure, affecting about one in every 500 to 1,000 people, said Dr. Charles Schleifer, a nephrologist at Lankenau Hospital in Wynnewood, Pa., and the incoming chairman of the Delaware Valley chapter of the National Kidney Foundation.
There are two types of polycystic disease, although 85 percent to 90 percent of patients have the autosomal dominant form, in which symptoms usually develop between the ages of 30 and 40, Schleifer said. A rare form of the disease is autosomal recessive PKD, which begins early in infancy and childhood.
Since PKD is an inherited disease, it is caused by a mutation in one of two genes that leads to the formation of multiple fluid-filled cysts on the kidneys. These cysts cause the kidneys to enlarge over time, decreasing renal function and leading to kidney failure in about half of all patients with PKD, said Dr. Ronald D. Perrone, medical director of the kidney transplantation program at Tufts-New England Medical Center in Boston. Patients with renal failure need dialysis treatments or a kidney transplant because their kidneys no longer work to filter waste products produced by the body.
People with PKD may experience back and side pain where their kidneys are located, urinary tract infections, blood in their urine, headaches and high blood pressure. The symptoms are usually related to the increasing size of the kidneys, which can grow from their regular size of about 3/4 of a pound to 20 or 30 pounds because of the fluid in the cysts, Perrone said.
Minch found out she had the disease when she was in her early 20s, after seeing her doctor for recurrent kidney infections. It was the first sign she had PKD, but it would not be her last. By the time she was 47, her kidneys had failed. Both were removed. She spent four years on dialysis. All the while, she suffered bouts of fatigue and anemia related to the PKD.
As she was getting sicker, her three daughters, in their teens and college years, were getting older. “They saw PKD take a toll on me,” Minch said. “The frustrating aspect is that you’re ill in your prime.”
Her husband, Ed, wanted to donate a kidney to Minch, but he was not a match. So she waited on a transplant list. In 1999, a close friend, Wendy Voss, offered one of her kidneys. It turned out she was a match. Minch underwent transplant surgery at Johns Hopkins Comprehensive Transplant Center in Baltimore.
These days, Minch is feeling healthy and showing no signs of PKD. Her transplanted kidney is functioning well. Her liver has cysts, but is working normally. Her blood pressure, often an issue among PKD patients, is good.
While many families prefer to keep details about their genetic history of PKD private, Perrone said, it’s important that they talk among themselves about the disease and its impact. That way those with with PKD can get treatment for early problems like blood pressure and also be aware of increased risks, such as whether a family history of PKD also includes an increased risk of aneurysms. Patients in families with a history of PKD and aneurysms are 25 percent more likely to have them as well, he said.
Communicating about the disease also is key for patients who are seeking a kidney donation. Living kidney donors typically provide the best results for patients with PKD, Perrone said. Looking back on past family members with PKD also provides current patients with an idea of how their disease will progress, Schleifer said.
The Minches aren’t a family trying to hide their experiences with PKD. Clark, who was a college sophomore when she was diagnosed, uses her family as an example when teaching genetics to seventh- and eighth-graders at Gauger-Cobb Middle School in Newark. It’s an easy example to demonstrate, and the personal nature keeps kids interested.
Plus, she said, it gives her a chance to plug the importance of organ donation, even though her students are too young to consider it.
Although she doesn’t yet have symptoms of PKD, Clark makes sure her blood pressure is controlled. She doesn’t take too many anti-inflammatory drugs, such as ibuprofen. And although it’s too early to think about the possibility of needing a kidney transplant, Clark said she and her sister, Hannah, already know their dad and younger sister, Mamie, could be possible matches.
“I think I see it as it’s so far off in the future,” said Clark, 31. “It’s a little bit hard to imagine it happening.”
Soon after Minch was diagnosed, her mother, suffering from PKD, told her that the medical advances made in fighting the disease would make Minch’s experience better than hers was. Years later, Minch said, that statement was true. Improvements in dialysis treatment and kidney transplantation have undoubtedly extended her life.
She’s hoping the same can be said for her daughters.
POLYCYSTIC KIDNEY DISEASE
Also known as PKD, polycystic kidney disease is the one of the most-common genetic disorders, affecting more than 600,000 Americans and an estimated 12.5 million people worldwide.
The kidneys we have two are fist-sized organs in the back, upper part of the abdomen. Their job is to filter wastes from the blood to form urine. People with PKD develop multiple, fluid-filled cysts that increase the size of the organs and decrease function.
Symptoms usually appear between the ages of 30 and 40 and include back and side pain and headaches. About half of PKD patients eventually develop kidney failure and require dialysis or a kidney transplant. PKD is usually diagnosed by X-ray or ultrasound.
When the disease causes kidneys to fail, the patient needs dialysis or a kidney transplant. That happens with about half of people with the major type of PKD, called autosomal dominant PKD. In 2003, 23,000 people with cystic kidney disease mostly PKD received dialysis or a kidney transplant, making it this country's fourth-leading cause of kidney failure.
PKD also can cause cysts in the liver, high blood pressure and aneurysms in the brain. Since it is a genetic disease, there is a 50 percent chance that a parent with PKD will pass it to a child.
Sources: PKD Foundation, National Institute of Diabetes and Digestive and Kidney Diseases
LOOKING FOR SUPPORT?
A Wilmington chapter of the PKD Foundation is being formed and organizers are looking for people interested in joining. The group is planning a Walk for PKD Sept. 17 at the Riverfront. For more information about the group, contact chapter coordinator Erin Quinonez at 836-8946 or PKDDelaware@msn.com.
For details about the walk, contact Lois Fleck at 477-1294 or WalkforPKDDE@earthlink.net.