The Neurofibromatosis Normal

For 16-year-old Philip Moss, living with a rare, incurable disease is just normal. It’s life as he has practically always known it. But for his parents, Renie and Philip Moss, Sr., finding out their son has neurofibromatosis was quite a shock – one they still vividly remember 10 years after diagnosis. 

“It was completely unexpected,” Renie says. “We knew that it thankfully wasn’t cancer because that had been ruled out by bloodwork. We honestly thought it was just a scarred lymph node, so it was a complete shock when we got the phone call that it was neurofibromatosis.”

Neurofibromatosis (NF) is a rare, genetic disorder that causes tumors to form on nerve tissue. It can happen anywhere in the nervous system, and while they are usually benign, the tumors can become malignant. There are three types of NF: NF1, NF2, and schwannomatosis. Philip has NF1, which, according to the Neurofibromatosis Clinics Association, is the most common neurological disorder caused by a single gene and occurs in one in every 3,000 children.

Overall, NF affects approximately two million people worldwide, and each type has its own signs and symptoms. For Philip, it started with a swollen area on his neck. “We went to the pediatrician, and they treated it with antibiotics but nothing changed,” Renie says. “Six months later, after testing at Children’s of Alabama, we found out it was actually a tumor that signified NF1.”

Philip was six years old when diagnosed, though many children are diagnosed as babies. Within a week of diagnosis, the family was meeting with geneticists at UAB. “There were so many emotions,” Renie says. “We didn’t want to create fear, but we wanted to maintain his trust. Philip was smart and he wanted answers. We had to talk to a family counselor to figure out age-appropriate ways to share with him what was going on medically but let him know we were going to take care of it.”

At that time, Philip was just starting kindergarten while also undergoing MRIs for doctors to best understand how to create a care plan. With NF, it can be quite difficult to treat as the tumors grow slowly, so chemotherapy won’t work, and with the tumor being on a nerve, surgery can cause significant, irreparable damage. For Philip, because the tumor in his neck was not causing him any pain and sitting on critical nerves, doctors knew surgery wasn’t an option. “We knew it would create more problems to remove it, even though it was going to create serious issues as it grew,” Renie says. “It was growing, and we couldn’t stop it. That was an issue.”

So, the family had to live with NF1 and watch the tumor grow and tried not to not let the disease define their family. “We wanted to focus on the good things and live life as normally as possible, even though NF was lurking in the shadows,” Renie says. 

But the family also knew what the growth of the tumor meant: the tumor could encircle his windpipe and suffocate him. If surgery became the only option, it could mean damaging nerves that meant he could never swallow or speak again or lose shoulder movement. “We were just watching and waiting,” Renie says. “Every six months he’d have an MRI, and concerns would start to creep up.”

After a few years, as the tumor continued to grow and encircle his windpipe, the family and the doctors continued to search for possibilities as there was still no approved treatment. They did try an oral chemotherapy drug to try to slow it down and buy some time. At first, there was hope: the tumor’s growth decreased to just 12 percent over a four-month period. “But then it took off again,” Renie says. “After eight months of trying, it was deemed unsuccessful. I remember walking out of the hospital with nothing left to try.”

The last glimmer of hope for treatment came when the geneticist asked if they could submit Philip’s file to the National Institute of Health as a candidate for an upcoming trial drug that they learned about. “It was experimental, but we said sure,” Renie adds. “So we went on living life and tried to wrap our minds around other things.”

But then, thankfully, and unexpectedly, the email came: Philip had a spot in the trial. Three weeks later, and they were on a plane to the National Cancer Institute in Bethesda, Maryland, to qualify for the experimental drug. “He had to go through so many safety tests, but he qualified,” Renie says. “He took his first pill of the drug trial in September 2015.”

Philip was traveling back and forth to Bethesda every couple of months for the first six months of the trial while also trying to pass fourth grade. Unfortunately, the first six months of taking the drug made him incredibly sick. “It was awful, but we didn’t have a choice,” Renie shares. “This was it. This was our Hail Mary.”

After six months of sickness finally came relief. “He just woke up one day and felt better,” Renie says. Even more important was that an MRI revealed the experimental drug was working: the tumor shrunk by 14 percent. Since then, the tumor continued to shrink and is now almost 60 percent smaller than it was originally. “The tumor is still there, but you can’t really see it like you could before,” Renie says. “You would never really know he has NF by looking at him.”

Since Philip started the clinical trial, the drug has actually been approved in the United States in 2020 and in Europe earlier this year. Philip still gets MRIs to monitor the tumor every six months, and he still makes those frequent trips to Bethesda. “We’re so very fortunate,” Renie says. “We call our life living between the scans. We try to live a normal life, then the tension and anxiety build up when you know a scan is coming up. We’re just trying to live life the best we can.”

Paige Townley is a Birmingham-based freelance writer.