Beaverton promotes patient involvement
Wes and Mary Beth Campbell were expecting their second son, Teddy, when they found out their first son, Calvin, now almost 3, had Bloom Syndrome.
"We're both scientists so we started researching everything about this rare genetic disorder," Mary Beth said from their California home Monday. That's when the couple contacted Scientific Director Charles Keller at The Children's Cancer Therapy Development Institute lab in Beaverton — a place that Keller calls "A rebel science lab working to achieve patient empowerment."
The institute just earned funding to host a national collaborative to replace a void of information related to Bloom Syndrome, a rare genetic disorder. Fewer than 300 cases have been reported worldwide. It was first discovered in the 1960s. It poses an extraordinarily high risk of developing cancer early in life, making the average lifespan for affected patients 27 years.
"Bloom Syndrome kids are so, so tiny," Keller said. "A 3-year-old is the size of a 4-month old baby many times. They are proportionately small though. They also often get a skin rash from the sun because of the inability to repair DNA when it's damaged."
Because of the lack of information, families whose children have been diagnosed with Bloom Syndrome often don't know how to detect symptoms and get treatment.
That's why the Campbells, scientists at University of California, Los Angeles and Cal Tech, turned to Keller. They partnered to raise $27,000 through Portland-based consano.org/" Consano, an online crowdfunding platform that connects donors with medical research that matters to them.
"I always think of that song, 'New York, New York,' you know: If you can make it there you can make it anywhere. If we can cure or prevent cancer in any one you can do anything," Mary Beth said.
Molly Lindquist, CEO, of consano.org. Consano said Keller was an early believer in crowdfunding, because it draws people from all over the country. The Impetus is patient engagement with the intent that it provides a tool kit for rare diseases.
"For me, I am a breast cancer patient," Lindquist said. "I like to see families utilizing the opportunity to change the conversation around and give patients a voice in the process, focusing on things from their perspectives. The patients are micro-experts."
With this funding, the collaborative will bring together researchers, physicians and families who have first-hand experience with Bloom Syndrome.
This five-day nano-course will produce a peer-reviewed roadmap for Bloom Syndrome research and clinical care guidelines. It's set to take place this summer in Oregon.
It is designed to help families understand how to plan for people diagnosed with Bloom Syndrome and will support further research into effective treatments or cures.
Keller and the Campbells are looking for Bloom Syndrome patients, families, researchers and physicians to participate in the nano-course. He said he's been running nano-courses since 2012. For more information, visit consano.org/projects/bloom-syndrome-nano-course-2017/.