Donations Fund Genetic Testing That Saves Lives - Herd of Hope

Donations Fund Genetic Testing That Saves Lives

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 helped. After multiple hospital visits, an MRI finally found a tumor on his spine.

Surgery and pathology narrowed it down to a rare, unclassified spindle cell tumor — but couldn’t tell anything beyond that. Doctors 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 Comprehensive Cancer Center and tested with OmniSeq Comprehensive®. The test discovered a gene mutation that conventional tests had missed. He had an inflammatory myofibroblastic tumor, a type of sarcoma.

What is OmniSeq Comprehensive®?

Developed by Roswell Park researchers in the Center for Personalized Medicine and the cancer center’s precision-medicine spinoff company OmniSeq®, OmniSeq Comprehensive is a diagnostic test that sequences genes of a patient’s tumor biopsy in a search for mutations. Once doctors know about a genetic mutation, they can tailor treatments specifically to that tumor.

Donations to Roswell Park have supported much of OmniSeq Comprehensive’s development. At first, these tests were not covered by insurance. But because donor support helped cover the cost of more than 600 tests for patients who stood to benefit from it, Roswell Park and OmniSeq were able to collect the data needed for insurance carriers to justify broader coverage for Roswell Park patients.

Because OmniSeq found that mutation, Kyle finally received the right drug. Now, the tumor has shrunk remarkably.

Christeana is deeply grateful that donors helped make this diagnosis happen. “I really appreciate the donations because they helped my son. I wish I could say thank you to them.”

Kyle calls his tumor his “monster” and after repeat imaging, asks how his monster is doing.

“When I found out 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.