Spreading awareness of a genetic disease
As seen in Issue 19 of The Simmons Voice:
Spreading awareness of a genetic disease
By Jackie Carlozzi
Polycystic kidney disease (PKD) is a common genetic disease that is not well known. According to the PKD Foundation Web site, one in every 500 people has it and 12.5 million people worldwide are struggling with it today.
Women such as Beth Leven, coordinator of the Boston PKD walk, Lisa Ostrow, accomplished artist and mother, and Kathy Curran, news reporter for WBZ, have all been affected by PKD through personal experience or as a witness to their loved ones struggles. These three women were kind enough to share their personal stories in order to raise awareness to the disease that has remained unacknowledged for so long. According to Leven, PKD is a “debilitating illness that reduces the function of the kidneys due to the growth of large cysts frequently causing the kidneys to grow to the size of a football.”
According to the National Kidney Foundation, the kidney acts as a filtration system for the body, removing toxins that could poison the body’s blood. PKD prevents the kidneys from functioning properly because they become so overwhelmed with fluid-filled cysts, causing toxins to compile in the blood. Unless removed, this results in fatal health consequences.
Through decades of kidney research, only two forms of PKD have been diagnosed. Ninety percent of all PKD cases are autosomal dominant PKD (ADPKD), which typically develops in adulthood, but can show earlier. The second form is autosomal recessive PKD (ARPKD), which is a rare form that develops before the infant leaves the womb. Both of these strains are inherited and passed along through each generation with a 50 percent chance that each individual in the next generation will inherit not only the mutated gene, but also the disease.
Ostrow’s twin daughters, Jennie and Laura, 13, were diagnosed with PKD when they were only four months old. It was first noticed during Ostrow’s pregnancy that there were some problems with the girls’ kidneys, which was likely to be ARPKD.
PKD was something Ostrow and her husband had never heard of. They had already had one healthy daughter, so when their twin daughters were diagnosed with the disease it was unexpected. According to the PKD foundation, ARPKD is a recessive strain. It can carry through generations but never show the effects of PKD on the carriers. This is why there was no family history of the disease for the Ostrows.
The twins look out for each other and have stayed in good health through policing each other on dietary things like sodium intake and making sure they get exercise. “They’re fortunate to have one another,” said Ostrow.
There is always the concern of what it could become for these young girls, but Ostrow monitors them and helps instill a valuable principle that “there’s nothing that can’t be done,” Ostrow said about helping her daughters live beyond PKD. “No one can put conditions on what you can do—only you can do that.”
The scientific research behind PKD has been increasing over the last few years, but there is still no cure, only treatments. When the kidneys begin to fail the options for treatment are scarce: dialysis or transplantation.
According to the National Kidney Foundation, there are two kinds of dialysis available for when the kidneys fail: hemodialysis and peritoneal dialysis.
Hemodialysis uses an external machine to pump out toxins, salts, and water.
Peritoneal dialysis focuses on the peritoneal membrane, where a catheter is inserted for about an hour and dextrose solution removes waste from the abdominal area. These forms of dialysis are extremely time consuming and may come with risks of serious infection and side effects, such as nausea.
Dialysis does not provide support to the kidneys, but acts as a partial replacement. It takes on the role the kidneys play for filtration, but does not match their effectiveness. Dialysis is not a permanent solution—just a treatment until a transplant can be obtained.
According to a Massachusetts regulation, in order to be eligible for a transplant, the patient must have undergone dialysis treatment. Transplants can come from live donors or cadavers. Only 25 percent of donations come from live donations. The average wait time for a transplant is two-to three years, but this can vary depending on where a person lives, their blood type, and whether they have certain “bad” antibodies.
Curran’s mother was on dialysis for ten years before finally receiving her cadaver kidney in 1998. The process was classified as “being highly sensitized, finding a blood and tissue match was extremely difficult,” said Curran. She had to go out of state just to be considered for a transplant before ultimately receiving one from Beth Israel Hospital.
Transplants are difficult to obtain in the New England region for various reasons, including strict rules. Leven transferred over to a hospital in Indiana, and after years of waiting for hospitals in Boston, she received her kidney from a cadaver almost immediately from the new hospital.
Today 12,800 people in Massachusetts have PKD, and at least 10,000 of them are waiting for a transplant, according to the PKD statistics.
Leven explained how transplants are commonly mistaken for cures, but the disease can come back at any time regardless of the new kidney; there is no cure. Along with the risk of the disease coming back, the patient has to be on immunosuppressant drugs for the rest of his or her life. On top of this, there is the risk that the body could reject the kidney or complications from infection could arise.
Cysts can continue to form and spread throughout other vital organs, such as the liver, and can cause serious problems in the brain and heart; it is the cysts which cannot be treated that make this disease so horrible.
“To this day, she is in tremendous pain due to the complications of PKD and polycystic liver disease. She has participated in several research studies and has had numerous surgeries. Cysts fill her core, her skin tears like tissue and she is in constant pain,” Curran said.
Dialysis and transplants were expensive, but now Medicare covers about 80 percent of the dialysis costs. For the first 36 months, it also covers 80 percent of the transplant costs and necessary medications, according to the National Kidney Foundation. After that, the patient has to find another way to supplement the costs.
This can be hard for many people, as genetic diseases face discrimination from health insurance agencies. Currently, many are hoping the Genetic Information Non-Discrimination Act (GINA), which would not allow employers or insurance agencies to use genetic information in making decisions about providing health care or hiring an individual, will get passed this year after 12 years of failing.
Many people who are healthy enough for clinical studies will not come forward out of fear that it will hurt their chances at employment or health insurance-a risk only a few are comfortable to take in the face of such loss. Right now the government, through Medicare and Medicaid, spends more than two billion a year for treatments related to PKD.
The act’s benefit is to save money and save lives. Clinical trials could “delay the onset of dialysis and potentially save the federal government
billions in Medicare dollars,” said Leven.
This does not leave much money for research. According to the National Institute of Health (NIH), it funds PKD research at $53 per person.
This is an astonishing number when you consider PKD is more common than hemophilia, cystic fibrosis, sickle cell anemia, Huntington’s disease, muscular dystrophy, and Down’s syndrome combined—all of which receive up to $1600 per person.
Those numbers do not dissuade the advocates, because with the PKD Foundation, they are not alone. According to Ostrow’s Web site, “the PKD Foundation is the only organization, worldwide, dedicated to promoting research to find a cure for polycystic kidney disease (PKD) and improving the care and treatment of those it affects.”
In fact, if it were not for the “aggressive and effective activism on the part of the PKD Foundation, its members and volunteers… who raised $2.4 million at nationwide walks in 2006,” Leven said. “Cutting-edge [research projects focusing on new] PKD therapies could be in jeopardy.”
The walks for PKD have shown how “one person’s volunteer effort or small donation goes a long way,” Leven said. These walks provide the necessary money for PKD research. With over 80 percent of the donations going directly to research, the increasing amount of participation increases each year with expectations and “anticipation that this September 21st walk will be the biggest yet at Artesani Park in Brighton” said Leven.
According to Leven, there are seven centers around the country, including Tufts-New England Medical Center and Beth Israel-Deaconess Medical Center in Boston who are investigating the disease and recruiting patients. Dr. Ronald Perrone, associate chief of Nephrology at Tufts and kidney transplant medical director, also serves on the PKD Scientific Advisory Committee. Perrone has said before how essential the Walk for PKD is, as it gives support to vital research, but also gives a place for people with PKD to interact.
Leven and Curran first got involved through the PKD walk after seeing the disease spread from generation to generation, devastating all those it came across—an all too common story for families who have been affected by PKD.
“After years of sitting around doing nothing for a cause I have lived with all my life, I decided to get actively involved. The miracle of the life altering gift that I received from a total stranger inspired me to give back to the community, especially PKD,” said Leven. She is now coordinator of the Boston Walk.
“I work hard all year long to increase awareness and raise money for research and education. From June to September, I devote all my free time,” Leven said.
Curran also takes part in the annual walks with her own team, “Curran’s Crew.” She has spread the word about PKD at her work place, where no one knew that is affected “hundreds of thousands of people.”
Curran’s hope that the walk will assist “by spreading the word about PKD [and then] more money will go [toward] research and someday there will be a cure…[it will] help end this disease and stop it from spreading from generation to generation.”
Ostrow has also gotten involved in spreading awareness for the disease. As an accomplished musical artist, she has recorded a CD called Unconditional, where all the proceeds from the sale will be donated to the PKD Foundation. Ostrow hopes her music will compel others to learn more about PKD and its hold on so many people.
“The glass is half-full for them; it’s a matter of finding a way around those obstacles and not succumbing to them. This is just one more challenge we’re going to meet,” said Ostrow.
The Walk for PKD is a powerhouse when it comes to spreading the word on the disease and getting people involved. The goal of the PKD foundation is for “no one [to] feel the full effects of PKD,” and that is exactly what all of these women and many more like them will continue working on, through raising money for research or educating the public in whatever way they can.
For more information on this disease, visit the PKD Foundation Web site at pkdcure.org
Posted: May 16, 2008 5:14 pm by Jaclyn Carlozzi | 0 comments
Tags: Health and Sciences, PKD, The Voice