Empire State Ride Donations Fund Genetic Testing That Saves Lives

Pictured: Kyle

Every summer, 100+ strong and adventurous bike riders pedal from New York City to Niagara Falls, New York — more than 500 miles in seven days, through busy Manhattan, into wooded areas, along the Erie Canal — to raise money for cancer research at Roswell Park through the Empire State Ride. Here’s one story of how these riders and their supporters make a difference in the lives of our patients.

Imagine that your child is sick, but no one can tell you what’s wrong. That’s what happened to Kyle’s parents when he took a strange fall and started having trouble walking. He kept waking up in great pain in the middle of the night, and nothing could help. After multiple hospital visits, an MRI finally detected a tumor on his spine.

Surgery and pathology narrowed it down to a rare, unclassified spindle cell tumor — but couldn’t reveal anything beyond that. Doctors still didn’t know how to treat him.

“I was distraught,” says his mom, Christeana. “I was so upset and so scared, wondering, Am I going to lose my son?

Finally, Kyle was sent to Roswell Park, where he was tested with OmniSeq Comprehensive℠. OmniSeq discovered a mutation on a gene that conventional tests had missed. He had an inflammatory myofibroblastic tumor, a type of sarcoma. OmniSeq Comprehensive is a diagnostic test developed by Roswell Park researchers in the Center for Personalized Medicine. It sequences genes of a patient’s tumor biopsy looking for mutations. Once doctors find a genetic mutation, they can tailor treatments specifically to the patient’s tumor.

Donations to the Empire State Ride and to the Alliance Foundation have supported much of OmniSeq’s development and the testing it provides patients — as well as the development of other forms of diagnostic testing to identify new personalized therapies.

At first OmniSeq testing was available only to adult patients at Roswell Park. More than 600 of them received the testing because the cost was covered by "the generous support of Roswell Park donors," says Carl Morrison, MD, DVM, Executive Director of the Center for Personalized Medicine and founder, President, and Chief Medical Officer of OmniSeq. Donor-funded testing proved that the test was a useful medical-management tool, which led to several regional insurance companies agreeing to cover the cost of OmniSeq Comprehensive tests.

Now, adds Dr. Morrison, "We are excited by the promise shown for the usefulness of comprehensive genomic profiling for pediatric patients."

Because OmniSeq found Kyle’s mutation, he finally got the right drug — and the tumor has shrunk remarkably.

OmniSeq doctors are excited to be able to expand its use to pediatric cancer patients, which is possible only because of the generosity of our donors. Christeana is deeply grateful to the donors who helped make the diagnosis happen.

Kyle calls his tumor his “monster,” and after repeated imaging, he asks how his monster is doing. “The pill was working, and it still is — it’s amazing. It’s a miracle drug to help my son cure this monster,” his mom says.