There’s hope that new federal legislation could one day help find a cure for polycystic kidney disease (PKD), one of the most common genetic disorders in the country.
Brea Battaglia was diagnosed with PKD when she was 15 years old.
“It was not something I was ever expecting,” said Battaglia. “I woke up in the middle of the night with severe pain, and I had no idea what it was. So immediately I woke my mom up to take me to the ER. We went through all the steps and processes for the infection that I had, which is how we found out through the CT scan that I had it. I’ve seen my dad, my uncle, my grandpa, and his dad also go through it.”
Polycystic kidney disease is characterized by the growth of cysts in the kidneys. These cysts can enlarge the kidneys and impair their function over time, leading to symptoms such as high blood pressure, abdominal pain, and eventually kidney failure.
“It accounts for about 10% of our dialysis patient population in the U.S., the people under the age of 65. And it’s a Mendelian disorder, meaning it’s passed on in a family in a dominant fashion, said Dr. Arlene Chapman of the University of Chicago Medicine. “I have a PKD Center of Excellence and we follow over 2,000 patients and 800 families.”
Last week – the PKD Cures Act was introduced in Congress.
The legislation would require the National Institutes of Health to expand and intensify PKD research, but it does not allocate a specific dollar amount.
“This is a beautiful step forward,” Chapman said. “So I think, hopefully, the working group will come up with a dollar amount or percent increase that they think is important for ADPKD research.
“The PKD Foundation is the only one funding it in the US right now,” Battaglia added. “If we open this up into Congress and get more research, that gives more hope for the future to all of our community and the millions of people it affects worldwide. I think there’s definitely going to be a better treatment at least, and hopefully a cure.
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