Rare Disease Advocacy Groups: Forces for Hope

Turner Fautsko

When researchers studying rare, heritable diseases need biosamples, they often come to the Coriell Institute for Medical Research. This is because of Coriell’s recognized high quality and the one-of-a-kind collection of samples it offers.

That collection did not come about overnight. Since the early 1970s, Coriell has worked with the National Institute for General Medical Sciences to build what’s now known as the Human Genetic Cell Repository. Sponsored by the NIGMS and managed by Coriell, this diverse collection has grown over decades to include thousands of cell lines and DNA samples, including samples which represent some of the rarest diseases currently known to man.

To build this collection, Coriell has worked directly with people with these diseases and has been entrusted by them and their families to accept and care for these invaluable samples. Coriell has also built strong relationships with the rare disease advocacy organizations which are often formed by these patients and families. These groups organize the efforts of patient advocates and scientists and are very often the driving force behind some of the biggest breakthroughs in their diseases.

As the NIGMS Human Genetic Cell Repository is always accepting new samples from people with these diseases and makes these samples available to qualified researchers around the world, it’s a powerful resource for these groups.

Coriell is currently developing a new partnership with one such group, KIF1A.org, to add induced pluripotent stem cells representing the very rare disease KIF1A Associated Neurological Disorder (KAND) to the Human Genetic Cell Repository. KIF1A.org was founded in 2017 by Luke Rosen and Sally Jackson less than a year after their daughter was diagnosed with the disease. KIF1A.org is more than a meeting ground for those newly diagnosed with this very new, very rare disease, it’s an educational resource for them, and it is a force for research advocacy.

For Jenni Fautsko and her family, it was a lifeline.

Her son, Turner, was a healthy, happy baby, but concern grew when he was around 10 months. Turner wasn’t sitting up when he was supposed to, he wasn’t rolling over. They took him to doctors who struggled to identify the cause for Turner’s developmental delays. Jenni said the testing was invasive and went on for years and provide few answers other than a cerebral palsy diagnosis at the age of three.

A neurologist pushed for Turner’s DNA to be analyzed, but Jenni said it took several years to convince her insurance provider that the expensive analysis should be covered. Ultimately, it was and they had their diagnosis: Turner was born with a mutation on the KIF1A gene.

Jenni called the diagnosis a “blow to the stomach” but she soon put the disease into Google and found KIF1A.org and the group’s Facebook. Immediately, she found her community.

“KIF1A meant that we weren’t alone. There were so many other families that knew our life,” Jenni said.

Since then, KIF1A.org has helped the Fautskos learn about Turner’s condition and find others who understood her struggles, especially with doctors and the fight for the diagnosis. This disease is exceedingly rare. Just a couple dozen patients were known a few years ago, but now—largely thanks to advocacy from KIF1A.org—there are nearly 300.

“Groups such as KIF1A.org truly make the work we do possible. We would not have the collection that we have today without them,” said Deborah Requesens, PhD, the principal investigator of the NIGMS Human Genetic Cell Repository at Coriell. “They have the knowhow, and most importantly the passion to organize enormous numbers of people, to inspire the public and to convince scientists that this work is worth their time. It would be impossible without them.”

With KIF1A.org, the future is bright for Turner and his family. Turner, now 10, is receiving a range of therapies that get him out of the house and moving. He takes after his dad and lives for action—skiing, camping, rafting. Jenni said he particularly loves hippotherapy, or therapy with horses, where he can get on the back of a horse and just ride.

And the Fautskos know now that they are not doing this alone. Talented, driven organizers are leading the charge for new research and new treatments and she’s happy to contribute where she can. She shared this about the time they met KIF1A.org founder Luke Rosen at an event in Aspen, Colorado recently.

“Meeting Luke was one of those moments in life that I will never forget. A lot of people don’t see Turner. They don’t take the time to understand him. Luke took the time to get down and make a connection,” she said. “I’m so grateful that Luke and Sally started KIF1A.org. There’s so much hope.”

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