JOHNSBURG – Every day Paula Shal takes 52 pills.
She takes four pills every six hours for cystinosis, the rare disease she was diagnosed with 25 years ago, and she takes three anti-rejection medications for her fourth kidney transplant. She has pills for the side effects and vitamins to supplement the nutrition that goes straight through her system.
Cystinosis is a genetic disease – the abnormal accumulation of the amino acid cystine in various organs of the body, according to the Cystinosis Foundation based in Mo raga, Calif. In Shal’s case, it’s responsible for severe muscle-wasting.
“We wanted to put a face with the issue,” she said.
Shal, her husband, Jim, and nine other families affected by cystinosis went to Washington, D.C., last week to tell their stories to policymakers’ staff to stave off cuts ahead of budget talks and the automatic cuts set to occur in a month.
The cuts, called sequestration, were pushed back 60 days as part of the “fiscal cliff deal,” but unless a new deal is reached by March 1, across-the-board cuts are supposed to take place.
Besides getting through any cuts unscathed, rare disease advocates such as Shal hope to build on policies such as the Orphan Drug Act, which encourages research aimed at discovering treatment for rare diseases.
About 500 people have cystinosis in the United States. That makes it one of almost 7,000 diseases that meet the criteria in the Orphan Drug Act.
Shal and the people who traveled to Washington with her would like to see additional funding for academic research and financial incentives to encourage private drug developers to take on the often expensive and lengthy drug development process. They’d also like policies to help families afford the drugs once they’re developed.
Shal’s medication would cost $28,000 a year if she didn’t have insurance.
She’s lucky, she said, that her insurance through her job in the training department of American Girl
covers the medicine, some of which has to be ordered through specialty pharmacies.
“There’s a ton of focus on cancer because a lot of people have it, but then there should be focus on rare diseases, too, like cystinosis and the 7,000 other rare diseases out there,” Jim Shal said.
“When you add up all the rare diseases together, there are millions of people affected,” Paula Shal said.
Telling her story to Washington staffers was unusual for the 42-year-old Johnsburg resident.
As a former board member of the Cystinosis Research Network, most of her work has been focused on children.
Most people with cystinosis live only into their 20s and 30s. A rare case of a rare disease – Shal wasn’t diagnosed until after her first kidney transplant at age 17. She is one of the oldest people in the U.S. with cystinosis.
“My mission there wasn’t to help find treatments or a cure for myself necessarily,” Paula Shal said. “I’ve already had a lot of complications from it. Honestly, if a cure was found tomorrow, I don’t know how much it would help me.”
Shal’s late diagnosis might be why her muscle-wasting is particularly bad. At least that’s her theory.
She has 25 percent function in her hands, which makes cooking and other tasks that require fine motor skills difficult. Voice-recognition software on her cellphone has been a real lifesaver.
“I don’t want the disease to control me, so I just try to live my life,” she said.