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 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 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 ComprehensiveSM. 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 know about 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.
Because OmniSeq found that mutation, Kyle finally got the right drug. Now, the tumor has shrunk remarkably.
OmniSeq doctors are excited to be able to expand its use to pediatric cancer patients, which is only possible because of donor generosity. Christeana is deeply grateful to know 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.
