CDM Girl's Birthday Wish Spurs 'Life-Saving' Medicine

It was the moment that changed Nancy and Jeff Stack from parents, just trying to help their daughter live with an incurable disease, to warriors battling for a cure.

Stack had taken her daughter Natalie, who suffers from nephropathic cystinosis, to Ruby's in Laguna Beach to celebrate her 12th birthday.

"I told her to make a wish for her birthday. After some hesitation, she wrote on a napkin 'I want to have my disease go away forever,'" Nancy Stack recalled. "I went home and told Jeff we can't sit around anymore.”

The next year the couple formed Stack's Cystinosis Research Foundation in 2003 and have raised more than $22 million to research a cure. On Tuesday the  U.S. Food and Drug Administration approved Procysbi, a new drug developed with funding from the Stack's Cystinosis Research Foundation to treat nephropathic cystinosis. The disease affects about 500 people in the United States and 3,000 people worldwide, according to the FDA.

"It is a revolutionary treatment for us," Nancy Stack, of Corona del Mar, said. "Most people with cystinosis take about eight or nine medications a day, but Procysbi is the life-saving one."

Cystinosis, which Natalie was born with 22 years ago, attacks the kidneys, eyes, muscles, liver and brain and can be fatal if not treated during early childhood. The disease affects a child's growth, and most patients will need a kidney transplant. Up until the FDA's approval of Procysbi, most cystinosis patients have been treating the disease with Cystagon, a medication that has to be taken every 6 hours and has a variety of side effects.

"With Cystagon, children and parents don't get much sleep because they have to wake up their child to take it at night. The schedule is so rigorous that many people don't comply with taking it when they should," Nancy Stack explained. "It also causes nausea, diarrhea, vomiting and it smells like rotten eggs."

Procysbi, which will be sold by Novato-based Raptor Pharmaceutical Corporation, is a sigh or relief to many parents like the Stacks because it only has to be taken every 12 hours, and the bad odor is reduced.

But the drug is not without controversy. According to the New York Times, Procysbi will cost an estimated $250,000 a year in contrast to existing similar drugs that cost about $8,000. As is the case with new drugs, it’s priced to recoup the high costs associated with research and development.

However, Procysbi has significant benefits over its predecessor, said Christopher M. Starr, Raptor's co-founder and chief executive. The vast majority ― 80 percent of patients ― skip their scheduled Cystagon pills, he said. Though it will take some time to convince insurers to bear the extra cost, the "subtle advantages" of Procysbi should result in people taking their medicines when they should, Starr told the newspaper.

Nancy Stack said she hopes Procysbi won't cost the hefty price tag, but if it does, she said it is essential for the longevity of those battling cystinosis.

"When Natalie was born, they gave us a pamphlet of all the horrible things to expect and said she probably wouldn't live to graduate high school. There was no internet, and we had limited resources," Nancy Stack said. "Through the foundation, we have worked to develop and fund better treatments, and that is what Procysbi is. It is the closest thing to a cure."

Natalie, an alumni of Newport Coast's Sage Hill School, will start taking Procysbi soon but has been thriving on the drug's prototype she started taking in 2006 as part of a cystinosis study. She has not had to receive a kidney transplant and is expected to graduate from Georgetown University in December. After graduation she plans to become a social worker.

"She's very driven and she wants to be like everyone else," Nancy Stack said. "She has always said her disease doesn't define her, but it's a huge part of her life."