Commonly uncommon

Liam Robbins has the most common genetic disorder you’ve never heard of.

At 6 months old, Liam was diagnosed with neurofibromatosis type 1 (NF1), a genetic disorder that causes tumors on nerve endings. The disease affects each individual differently, however, and at 9 years old, Liam remains tumor-free.

Liam’s mother, Nikki, said he is just like any other kid. He goes to school, plays with his two younger brothers and enjoys video games and cartoons on Saturdays. 

“He’s just a fun-loving kid — very joyful, always smiling,” Robbins said. 

Although he was diagnosed young, Robbins said it was difficult to know what the future would hold. 

“Because it is so different for each individual, we didn’t really know what his case would look like,” she said.

When Liam entered preschool, Robbins said they noticed a difference in his social interactions. In kindergarten, his work was affected by ADHD and learning differences, two common symptoms of NF1. While these led to a few issues at first, Liam has since transferred to a school for kids with learning differences and has blossomed, Robbins said.

“He has actually made friends for the first time in his life,” Robbins said. “He’s just really become more social since he went there. Being at a school that is for kids with learning disabilities, he feels more confident.”

Liam’s teacher also helps the students with visual and cognitive therapy as well as auditory processing, which he would not be able to get at a mainstream school.

The ability to diagnose NF early helps with treatment and management of the disease, said Dr. Ashley Cannon, genetic counselor and instructor in the UAB Department of Genetics.

“We are now able to diagnose people much younger, and the people who have milder features are now able to be diagnosed,” Cannon said. “Now doctors are more aware of it and will refer patients more often.”  

Although there is no cure for NF, Cannon said it is important to track the disease’s development in individuals. NF1 affects about 1 in 3,000 people worldwide, and it can develop differently in each case. There is no cure or treatment that can reverse or prevent complications, so most treatment is focused on early detection.

“We can’t predict who is going to develop what,” Cannon said. “It’s important for people to be followed closely.”

Most people develop symptoms before they are 10 years old, but some symptoms do not appear until puberty. While Liam is tumor free at this time, there is a chance he will encounter future complications. 

“It’s still a possibility, but you can’t worry about what’s going to happen in the future,” Robbins said.

While the NF community is growing and working to raise awareness, Robbins said there is still a need for more research. Birmingham is a hub for a clinical trial network, Cannon said, and there is a large NF population in the area. Dr. Bruce Korf, an internationally recognized authority on NF, works as a co-principal investigator at UAB’s Intellectual and Developmental Disabilities Research Center. Having a leading researcher in the area is a comfort to families coping with NF, Robbins said.

The NF community is also larger than she initially expected, Robbins said. Three members of their church have NF and offer support as they learn more about the disease. One member is in his 20s and was diagnosed when he was a child. At that time, Robbins said, doctors did not know as much about NF. 

“When we were kids, no one really knew what the disease was, doctors didn’t really know what was going on,” Robbins said. “So he said it’s good that Liam has that support and has somebody that can tell him what to expect, and we both have somebody there that’s like him and with him.”

Even though NF is statistically common, knowledge about the disease is not. Informing the community about NF is one of the first steps toward more research for a cure.  

“I really hope people can maybe be able to recognize it more and be able to get diagnosed and get help early on,” Robbins said. “There’s not a cure for the disease, obviously, but that’s why we want to spread the word — so people will contribute to the foundation and try to find a cure for it.”

One event geared toward raising awareness and support is the Alabama NF Walk. The walk is in its second year, and it will take place Oct. 18 at Veterans Park in Hoover. Robbins said the event brings together friends and family of those with NF and builds the NF community.

“A lot of people have come out to support Liam, and that just means the world to us,” Robbins said.