Providing Lifelong Care of Patients with Neurofibromatosis

Like most people living with neurofibromatosis type 1 (NF-1), Aaron Baum was diagnosed at a very young age. His family came to learn that he had this genetic condition as an infant after his father noticed one of the common symptoms: freckling in the armpit region. 

Now in his 30s, Baum recalls that when he was first learning about what NF-1 meant for his health, he mostly associated the condition with the difference of about two inches between the length of left and right legs. 

“I feel very fortunate that for the longest time there weren't a lot of manifestations that really impeded my daily life,” he said. 

NF-1 is caused by pathogenic variants in the NF1 gene, which result in the loss of a signaling protein called neurofibromin in all the cells in the body. Since this protein acts as a check on cell growth, the cells in various organ systems may start growing abnormally. For example, bone abnormalities, like those that caused Baum’s difference in leg length, can be a symptom. 

The condition can also lead to tumors forming in the central and peripheral nervous system. Neurofibromas and gliomas develop due to the loss of neurofibromin signaling in the Schwann cells that protect nerves and the glial cells that support neurons in the brain. 

But the specific symptoms that each patient living with NF-1 experiences throughout their life vary – as does their level of severity. 

As a child, Baum developed plexiform neurofibromas, but at that time clinical care for NF-1 was different.  

“When I was younger there wasn’t this routine scanning,” he said. “There was more of a wait-and-see approach, where if symptoms started to come up that were causing issues, then we would deal with them.” 

He describes his care as being fragmented. He and his family primarily visited a pediatrician and a genetic counselor, who then referred him out to other specialists as needed. His parents, both health care professionals, also spent time on their own researching his condition. 

An evolving field with growing multidisciplinary teams 

Pediatric neurologist and NF-1 specialist Alyssa Reddy, MD, formally established the multidisciplinary Neurofibromatosis Program in 2018 with new pediatric NF-1 and schwannomatosis clinics at UCSF Benioff Children’s Hospitals in Mission Bay and Oakland. 

“It was really reassuring to have a specialist I could see for NF,” Baum said of transferring to her care as a young adult.  

Thanks to Reddy, Baum has been taking selumetinib – a new targeted drug therapy for treating plexiform neurofibromas in children with NF-1 – for the last four and half years.  He also started receiving MRI scans every six months to monitor his tumors. 

“But since I was an adult, I didn’t have access to the full multidisciplinary team at the children’s hospital,” he said. 

Recognizing this growing need to provide continuing care, last fall neuro-oncologist Brian Na, MD, PhD, started a new clinic for adults with a dedicated team of specialists across multiple fields including radiation oncology, neuro-oncology, neuro-pathology, otolaryngology, and neurosurgery. 

Reddy now introduces her teenage patients to Na, who has training in both pediatric and adult neuro-oncology. In this initial appointment, Na lets patients know that they’ll start meeting with him once they turn 18. 

This system, Na says, is one of the only formalized programs dedicated to transitioning patients with NF from pediatric to adult care. 

The NF program at UCSF continues growing to meet the needs of this unique patient population. Earlier this year, the Children’s Tumor Foundation recognized UCSF as both a comprehensive NF-1 and schwannomatosis center, making it the only hospital in California with this designation. And last week, Na saw the adult clinic’s 100^th patient. 

Baum, who now sees Na in the adult clinic, says he feels that communication across different areas of adult specialty care will be easier for patients to navigate.  

“Things don’t stay stagnant, and there are new ways that NF affects us,” he said. As he grew older, he came to have a more complete picture of NF-1 and how his learning differences and scoliosis were related. 

Three years ago, Baum had an elective surgery to amputate part of his left leg below the knee to address some medical issues, including changes in the plexiform neurofibromas in the leg.  

His experience with surgery and rehabilitation sparked a desire to go into sports medicine – a career where he could help people recover from their injuries.  

“I would say my biggest passion and interest has always been within sports,” he said. “It’s an important part of who I am and what I was able to accomplish in spite of NF.” 

He now works as an orthotic fitter and feels that his familiarity with recovery and getting used to a prosthetic helps him connect with his patients.