Patient with Rare Genetic Disorder NF2 Gets a Renewed Sense of Hope

For Jose “Gabe” Rios, surgery and infusions at the USC Brain Tumor Center have each played vital roles in managing neurofibromatosis type 2, a rare but debilitating genetic condition that can cause benign tumors.

Jose “Gabe” Rios, 50, grew up watching his father, grandfather, aunts and uncles struggle with neurofibromatosis type 2 (NF2), a rare genetic disorder that can cause a type of noncancerous tumor called an acoustic neuroma to grow in and around the inner ears — and sometimes the brain and spinal cord.

When Gabe started to notice hearing loss at the age of 18, he knew he had inherited NF2, which causes chronic pain, dizziness, hearing loss and sometimes life-threatening complications. He also understood the serious impact the disease could have on a patient’s mental health.

“I actually felt normal, because I didn’t know any other way,” he says. “At the same time, I was in denial because I didn’t want to suffer like my family members had.”

Not ready to consider the worst-case scenarios, Gabe chalked his NF2 up to fate and continued living his life.

A condition impossible to ignore

In 2006, when Gabe was in his early 30s, the symptoms escalated.

“It wasn’t just the hearing loss,” Gabe says. “There was also the vertigo and the headaches. I knew I had to do something.”

Eventually, Gabe was diagnosed with an acoustic neuroma, a tumor that grows on the auditory nerve and which is commonly associated with NF2. When surgeons removed it in 2007, Gabe lost the rest of the hearing in his left ear.

For four years, Gabe didn’t notice much of a difference in his life. After all, he could still hear out of his right ear.

Then, in 2011, his acoustic neuroma symptoms returned. He would soon find out that an acoustic neuroma tumor was wrapped around his remaining auditory nerve.

Finding a surgeon he could trust

Gabe had selected Keck Medicine of USC for treatment simply because it was covered by his insurance plan. However, Steven Giannotta, MD, a neurosurgeon with the USC Brain Tumor Center, part of USC Neurosciences and Keck Medicine, quickly won Gabe over with his expertise and pioneering work in skull base surgery. Even more importantly, he was straightforward and honest.

He told Gabe that it would be impossible to remove the acoustic neuroma without leaving him totally deaf.

Gabe explained to the doctor that he wanted to prepare first. He signed on for American Sign Language courses, completing three semesters before his symptoms became unbearable.

On December 9, 2011, he had the surgery to remove the acoustic neuroma and lost what remained of his hearing.

Gabe experienced struggles often shared by the late-deafened. Communication became a challenge, which led to increasing isolation.

He also had to find a new career. He had been a high school teacher, but without any knowledge of the Americans with Disabilities Act or options available to deaf teachers, he felt he had no choice but to leave the profession. Eventually, he found a new path: rehabilitation counseling for people with disabilities.

A new treatment becomes necessary

NF2 is a persistent, ongoing condition. As Gabe rebuilt his life, new acoustic neuroma tumors developed, and the ones that had been removed kept growing back.

In 2021, Dr. Giannotta told Gabe that he didn’t want to keep putting him through surgeries just to remove tumors that were going to return. He recommended a new approach: infusion-based treatment.

Gabe was referred to Frances Chow, MD, a neuro-oncologist with the USC Brain Tumor Center.

“She explained so much about my condition and options for treatment,” Gabe says.

Dr. Chow recommended Gabe begin regular infusions with bevacizumab, a drug that blocks new blood vessel growth that tumors need to develop.

“Since that time, my tumors have been stable,” Gabe says. “And I’ve had no side effects.”

Infusions provide a new lease on life

Initially, Gabe went in for infusion treatments every two weeks. Then every four weeks. Recently, Gabe was cleared for treatment once every six weeks.

It often helps patients on bevacizumab to eat before going home, so when Gabe arrives at the infusion center, he’s always presented with a menu. After the 30-minute infusion, he has his meal and drives home.

Between treatments, Gabe takes good care of himself.

“Many people tell me I’m lucky, and I am,” he says. “But what many people don’t see is the amount of water I make sure to drink and the amount of sleep, exercise and support I make sure to get.”

Gabe used to struggle with the toll NF2 took on him and his family. Today, he says that Dr. Chow and the success of the infusions have given him hope.

“I’m not angry at the world anymore, because there’s help for me,” Gabe says.

The biggest benefit he’s experienced? Being more present for his 12- and 13-year-old children.

“I can go to all their sports events, and I actually have the energy to cheer them on,” he says. He regularly shares with Dr. Chow photos of his recent adventures — balancing on a skateboard, working out at the gym, traveling internationally and more.

Last year, Gabe completed a doctorate in higher education leadership. Someday, he hopes to run a university.

Gabe is also interested in participating in clinical trials to help future generations of NF2 patients. After he dies, he plans to donate his brain to researchers. Even when discussing death, he maintains his sense of humor: “I’ll probably give it to Keck Medicine of USC, because they’re kind of good at what they do, aren’t they?”

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