Foundation Is Life or Death Effort for Family

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Jeff, Natalie and Nancy Stack.

For Natalie’s Stack’s 12th birthday, she didn’t want toys, clothes or trips.

The Corona del Mar girl wrote down her one wish on a napkin during lunch with her mother. In purple crayon, she scribbled: “to have my disease go away forever.”

Her parents, Jeff and Nancy Stack, were shocked.

Natalie had been diagnosed with cystinosis, a rare and deadly metabolic disease, when she was an infant. She had never before talked about her disease or any fears she might have, her mother said, and it all converged onto that one little napkin.

“It was unexpected,” Nancy Stack said. “that she would be thinking and worrying about cystinosis. … I was speechless.”

Cystinosis causes abnormal accumulation of the amino acid cystine in each of the body’s cells. Build-up of cystine in the cells slowly destroys all major organs of the body, including the kidneys, liver, eyes, muscles, bone marrow, thyroid and brain. There is currently no cure.

“I got the immediate feeling that time is running out, we have to go into action,” Nancy Stack said.

The Stacks decided to hold a fundraiser and within seven weeks they were at the first “Natalie’s Wish” luncheon event. About 75 people attended and the Stacks raised more than $100,000.

“It became our mission to save Natalie and all other children with cystinosis,” Stack said.

Cystinosis affects approximately 500 people, mostly children, in North America and fewer than 2,000 worldwide, according to the foundation’s website. It is one of the so-called “orphan” diseases, where federal funding for research is extremely limited and most pharmaceutical companies are uninterested because the potential financial rewards are too small.

“Having a child with a rare disease or a chronic illness …  life changes the moment (she or he) is diagnosed,” Stack said.

The Cystinosis Research Foundation, an Irvine-based non-profit started by the Stacks, already – not even 10 years later – has funded research that has developed a new drug that can greatly improve the quality of life for cystinosis patients.

The foundation has raised more than $17.5 million  for research toward treatment and finding a cure, and has funded more than 90 studies and fellowships in nine countries, including funding research on stem-cell and gene therapy, which has the greatest promise for a possible cure.

“It’s amazing to look at where we are now,” Stack said. “We’ve made huge progress I a very short period of time.”

The amount of research being done now compared to when the foundation began nearly 10 years ago, is huge. Giant steps have been made in treatment because of the money the CRF has raised and given out for research grants. In 2011, the foundation awarded more than $2 million in grants.

A lot of the research is also applicable to other diseases and disorders, like Parkinson’s, because cystinosis is in every cell.

The foundation’s mission to find a better treatment has been realized with the completion of the clinical trials of a new delayed-release medicine, which is very close to getting the FDA’s approval. This new drug allows patients to take their medicine twice daily, rather than every six hours like the current schedule.

“This is a significant change in our children’s lives,” Stack said, about the approximately 50 kids, including Natalie, now 20 years old, who are taking the drug during the clinical trials. “This has brought freedom to the community.”

The hope is to not only stop cystinosis in its tracks, but also reverse the effects it caused.

Stem-cell research funded by the foundation has actually begun reversing the disease in mice. This is great progress, Stack said – if the process can be duplicated in humans, it could mean a cure for cystinosis.

The foundation has written a protocol for stem-cell treatment and is hoping to recruit it’s first patient this year.

“I do believe there is a cure in sight,” Stack said.

“We want to offer hope to families,” Stack said. “Every minute of every day some expert is working on curing cystinosis, families should sleep at night knowing that.”

The foundation also launched the Cure Cystinosis International Registry, which consolidates all patient information. More than 300 patients in 31 countries are already registered.

Stack’s long-term goal is for the whole foundation to be out of business, she said, because they’ve found a cure and everyone is free of the disease.

Natalie has a sense of optimism and hope about the future, the proud mother said. Natalie has helped the Stack family re-evaluate what’s important and put life into perspective and to look at every day as special.

“She is the source of my greatest joy and my greatest sorrow,” Stack said. “Life is fragile. … When I hug her, I know I have to keep going. I need to work faster and harder to save her life.”

The next event is the 3rd International Cystinosis Research Symposium for cystinosis researchers and scientists at the Beckman Center in Irvine, March 29-30. mThe Day of Hope Family Conference and Natalie’s Wish Event will be held at the Balboa Bay Club and Resort, April 19-21. Visit cystinosisresearch.org for more information.

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