Many rare and devastating diseases lack effective treatments or cures. The faith, funds and passion of families of our patients jump-start the search for answers that will help seriously ill children lead healthier lives.

Scientific discovery takes ideas, dollars and dedication. The families of our patients are an important source of all three, bringing hope and financial support – and forging relationships with investigators – that fuel the work at Seattle Children’s Research Institute.

Families are true partners in the research process. You feel an extra responsibility to make progress because of the faith and funds invested in you.”
– Dr. Nino Ramirez

Pediatric research receives just 6% of the National Institute of Health’s (NIH) funding – a spending history reflective of the trend toward prioritizing research into diseases and disorders that afflict adults at the expense of children and childhood wellness. Rare diseases, conditions that aren’t life-threatening and pilot studies get the short end of a short stick.

While that’s discouraging for families whose children are fighting rare and devastating diseases, many join the quest to find cures and better treatments. By personally supporting research at Children’s, these families are spurring advances in pediatric medicine that are not funded by other means. Families raise money, rally community support, encourage physicians and give consent for their children to join clinical studies to move research from the laboratory to the bedside.

Developing strong relationships with families is part of the research institute’s strategy, says Dr. Jim Hendricks, president of the institute. “Families count on us for hope and we count on them for inspiration. Their passion and participation fuels the fire of discovery.”

Solving the mitochondrial riddle

The Mitochondrial Research Guild is a dynamic example of the guilds and family foundations that support research at Seattle Children’s. Mitochondrial disease is a potentially life-threatening group of disorders in which cells fail to generate the energy the body needs to live and grow. Between 1,000 and 4,000 children are born with a mitochondrial disease every year.

There is no cure or effective treatment for mitochondrial disease, and it’s often misdiagnosed because it shares symptoms with other diseases. Jill Herczog, the mother of two daughters with mitochondrial disease, co-founded the Mitochondrial Research Guild in 2003 to raise awareness, improve care and spur research after struggling to find answers for her daughters. Families raised funds so Seattle Children’s could recruit two researchers to help solve the riddle of this mysterious metabolic disorder.

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Dr. Philip Morgan and Dr. Margaret Sedensky are studying the wide differences in the way patients with mitochondrial respond to anesthesia so they can improve their perioperative experience. The answer could also lead to a better understanding of the mechanisms that drive the disease. “The guild’s ongoing support for our work has been spectacular,” Sedensky says. “The commitment these families demonstrate reminds you what your work is all about.”

A family’s most precious commitment is allowing their child to participate in a clinical study. “It’s not an easy decision for parents to enroll a child in a study, but I can think of only one family out of hundreds who has declined,” Morgan says.

Families are also thirsty for knowledge that can help them cope with rare conditions like mitochondrial disease. To help quench that thirst, Children’s added a day of family-centered presentations to the mitochondrial biology conference it sponsored in August 2012. Families were also welcome to attend other conference presentations intended for researchers and clinicians. Experts from around the world spoke at the two-day meeting, which addressed one of the most vexing problems families face – how to diagnose the disease. Another conference is being planned for 2014.

Making innovation in cancer treatment possible

Funding for new but untested ideas is scarce. Without support from families, many promising therapies would struggle to move forward. The parents of a young boy who died of neuroblastoma when he was just 3 created a fundraising foundation in his name, the Ben Towne Pediatric Cancer Research Foundation, to hasten the development of better care and new cures. Funding from the foundation is underwriting the innovative immunotherapy approach to cancer treatment being developed at the Ben Towne Center for Childhood Cancer Research at Seattle Children’s Research Institute. The approach, led by center director Dr. Mike Jensen, involves reprogramming a child’s immune system to attack and kill cancer cells, potentially reducing or eliminating the need for radiation or chemotherapy. Read an update on this research.

A new way of thinking about Tourette’s

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Emerging ways of looking at disease also rely on philanthropy to move forward. Tourette syndrome, ADHD, addiction and other impulse control disorders affect a significant and growing percentage of children, but there are no cures, and treatments are not always effective. Jeanne Tweten and Jim Leslie, whose son has Tourette syndrome, approached Dr. Nino Ramirez, director of the research institute's Center for Integrative Brain Research, about studying these disorders as a group of related conditions. With a generous donation from their family foundation (the Leslie Fund), the couple launch a new program to find and understand the underlying cause of impulse control disorders – the first step toward developing effective new treatments and possibly cures.

But they contributed more than money, notes Ramirez. “Families are true partners in the research process. You feel an extra responsibility to make progress because of the faith – and funds – invested in you.”