SAN ANTONIO – At six months old, Krista Comfort was diagnosed with neurofibromatosis, commonly called NF.
It’s a genetic tumor condition, but it’s not cancer.
“It causes tumors to grow on the nerves throughout the body,” Comfort said.
NF affects one in every 2,000 people. All patients are born with it, but some don’t show symptoms until they are young adults, making diagnosis difficult for those patients.
Half of the patients have the gene in their family, but half don’t.
“Because the tumors can grow anywhere, there can be a wide range of complications,” Comfort explained.
Depending on where the tumors are, they can cause loss of vision and hearing, severe pain, and mobility problems.
Comfort has two tumors on her optic nerves, some on her spinal cord, and one in the skin on the left side of her neck.
Surgery usually isn’t an option.
“There has been a little bit they’ve been able to do because it’s so invasive in the skin that it would require years of surgery. These tumors can grow back, and they tend to get, like, a little agitated if you start messing with them,” Comfort said.
The condition comes with a stigma.
“It’s not always accepted by other people. They’re scared to ask you what’s happened, and that’s why I get involved in the summit,” Comfort said.
Comfort is a board member of the Children’s Tumor Foundation’s Texas chapter and is organizing the world’s largest NF patient summit in San Antonio from Thursday through Saturday, April 11-13.
“It can be isolating, and at these summits, you find out that you’re not alone, and there’s so many people like you. You get to connect with physicians, researchers, and there’s so many great clinical trials going on that were a blip on the radar 10 years ago,” Comfort said.
In 2020, the FDA approved the first drug to treat NF, and that was just the beginning.
“We have now two drugs that are in phase three, which is the last phase before you go to the approval. And there are a about 60-ish drugs now in the clinical pipeline which are being tested and evaluated in patients,” said Annette Bakker, president of the Children’s Tumor Foundation.
Bakker started in cancer research and recognized a cellular intersect with conditions like NF.
Now, she’s trying to bridge the gap and find cancer treatments that could work for NF and vice-versa.
“We are convinced that patients are partners in research,” Bakker said.
For years, Bakker has included patients in all steps of the trial process, which is why there are so many more participants than in other rare disease trials.
“If you think about rare diseases in general, one out of three clinical trials fail because we cannot recruit the patients in time. Our patients are part of the clinical trial designs, which means at the moment the trial is ready to be recruited, the patients know what this trial is about,” Bakker explained.
The research is there. Now, Bakker needs pharmaceutical companies and investors to jump on board.
All the movement has inspired both researchers and patients around the world.
“The research that’s been being done today gives me so much hope that, if we can’t find a cure, we be able to keep this condition stable in my lifetime,” Comfort said.
The NF Summit is Thursday through Saturday at the Hyatt Regency on the San Antonio River Walk. For information on how to register, head to the NF Summit website.