Maria, Sam and Max Mohideen of Park Ridge are shown having fun. Doctors have diagnosed Sam with neurofibromatosis, in which tumors form on nerves. His family is advocating for more research. - Original Credit: Mohideen Family (Handout / HANDOUT)

When Sam Mohideen was born three years ago, his mother, Erin, noticed some dark markings on his skin — often referred to as cafe-au-lait spots.

“They just looked like birthmarks,” she said. “My husband’s from Sri Lanka, and his skin is darker and mine is lighter, so I thought, oh, my kid’s got some spots on him. No big deal.”

And for most children, that would probably hold true. But for Sam, whose family lives in Park Ridge, it was unfortunately a marker for neurofibromatosis, a genetic disorder that can cause tumors to grow in the body’s nervous system. While the disease, usually abbreviated as NF, affects 2.5 million people in this country, it’s historically received little attention, according to medical researchers. Part of that stems from the fact that many people aren’t aware that they have the condition until a tumor develops.

“It’s a disease that affects all ages, ethnicities and genders,” said Dr. Annette Bakker, president of the Children’s Tumor Foundation, a nonprofit dedicated to studying NF in hopes of producing a cure. “It doesn’t discriminate.”

It is, however, wildly inconsistent in how it affects people.

In some ways, Sam’s is an unusual case in that it was found so early — he was diagnosed at his one-month appointment. “The only way to tell for sure is to get a genetic test,” said Mohideen, who, along with with her husband, Shahan, and two older children, are Sam’s biggest supporters. “But with us, Sam had several biomarkers. Our pediatrician knew what it was right away.”

Erin and Shahan Mohideen are advocating for more research into neurofibromatosis after their three-year-old son Sam was diagnosed with the disease, in which tumors form on nerves. Sam's older siblings are Max, 7, and Maria, 5. - Original Credit: Mohideen Family (Handout / HANDOUT)

“You find a spectrum of patients,” Bakker said. “Sometimes you don’t see anything on the outside, but they have all kinds of tumors and challenges on the inside. And then some people are visibly severely affected.”

Symptoms of the disease can often take years to manifest, or if they do, they may not affect a person’s everyday activities.

“So far, Sam is a very, ‘normal’ kid,” Mohideen said. “As far as a three-year-old boy is concerned, he’s running around, he’s playing with his siblings and he’s having fun. You would never know by looking at him that there’s anything wrong with him.”

“Most of the patients you look at, you say, well, there’s nothing wrong with them,” Bakker said. “That’s part of the reason why this disease isn’t as well known. We need to shine more light on this disease and get people out of the shadows.”

While there is no cure now — doctors can only treat the tumors as they develop — there is a sense of optimism in the NF community from promising developments. At a symposium held in Chicago this month, doctors, researchers and patients gathered to discuss the latest advances, some of which are the result of changes in the medical community due to COVID.

“(COVID) convinced a lot of researchers to share data faster,” Bakker said. “It would often take two years between the time a researcher discovers something and that discovery becoming public. Other researchers wanted access to that data sooner, so we can use it. And because of COVID, people started doing that more.”

Bakker said that she’s also working on getting better access to studies that have found unsuccessful treatments, which are often duplicated because the results aren’t easily shared.

“For example, if someone tests (a drug) and there’s a 99 percent chance it doesn’t work, it’s very difficult to get that published,” Bakker said. “That information never comes out, which means that we keep funding the same studies over and over because nobody knows that the drug doesn’t work.”

Erin and Shahan Mohideen are advocating for more research into neurofibromatosis after their three-year-old son Sam was diagnosed with the disease, in which tumors form on nerves. Sam's older siblings are Max, 7, and Maria, 5. - Original Credit: Mohideen Family (Handout / HANDOUT)

Before COVID, getting researchers to share this data was next to impossible, Bakker said.

“When we launched in 2014, it felt a little bit like we were asking people to share their toothbrush,” she said. “There’s a very different perspective now, and I hope that continues. It could be at least one silver lining of COVID.”

Researchers have also recently found success in repurposing drugs designed to treat cancer and other ailments.

“We have had some success borrowing drugs from the cancer space,” Bakker said. “We have one right now that is approved, and there are quite a few clinical trials ongoing.”

One of the complexities of NF is the tumor’s location on nerves, which often complicates removing them.

“When they’re intertwined with a nerve, you can take out the tumor, but then you also take out a function of the nerve at that place,” Bakker said. “It’s often not an easy decision.”

The fear of developing a tumor — even when it may not happen — is another burden of living with NF.

Sam Mohideen of Park Ridge is three years old and has been diagnosed with neurofibromatosis. - Original Credit: Mohideen Family (Handout / HANDOUT)

“You’re always on this roller coaster of not knowing what comes next,” Bakker said. “Nothing may happen to you, and you’re one of the lucky ones. Or it may manifest at any time. Are you having a normal headache, or does that mean something is wrong? They live in the continuous anxiety of, ‘What’s gonna happen to me tomorrow?’”

“It’s one of those things that’s a blessing and a curse,” Mohideen said. “Of course, you want to know early so it can be treated. But at the same time, you worry about everything.”

After adjusting to the initial shock of the diagnosis and learning more about the disease, Mohideen hopes to get more involved with the NF community and help spread the word about an ailment that is still under the radar for far too many people.

“We’re so lucky to live where we do, where incredible doctors are just a short drive away,” she said. “We want to bring more attention to this disease. It needs to be better recognized across the country.”

“We are making progress,” Bakker said. “But it’s still something that doesn’t get as much attention as it should. We’re doing our best to reach the clinician population. You want to educate them and let them know they can reach out to an NF expert.

“We’re moving in the right direction,” she said. “But we still have a long way to go.”

“Sam is so young that I’m very hopeful that a cure can be found in his lifetime,” she said. “We just need to put the resources into it.”