A rare neurological disorder makes for an unpredictable childhood, but this Montco teen has her eyes on the future

Amaya Rottloff loves to run around outside with her dogs. But when it’s hot and humid, she can become violently ill.

Every three months, she gets an MRI to monitor tumors growing in her brain. So far, all are benign, but they could someday turn into brain cancer.

Amaya, 13, is living with neurofibromatosis, a group of genetic disorders that causes tumors to grow on the nervous system. The way the disorder affects a person depends on where exactly in the body the tumors develop, said Annette Bakker, the New York-based president of the Children’s Tumor Foundation. While some people experience only mild symptoms, others are at risk of hearing and vision loss, learning impairment, heart problems and severe pain. For some, the tumors can become cancerous.

“It is very difficult to tell patients what will happen to them,” Bakker said. “If they don’t develop tumors, they still live in continuous anxiety from one MRI scan to the next.”

Amaya has NF1, the most common of three forms of neurofibromatosis. NF1 affects one in 3,000 people, about 2.5 million people worldwide. She has a tumor in her hypothalamus, the part of the brain that controls bodily functions, and often gets headaches when she gets too hot or it’s too loud. She has been diagnosed with ADHD which is common among children with NF1. Research indicates that 50-60% of children with NF1 have some form of learning disability.

“Sometimes it makes it hard for me to focus,” said Amaya, an eighth grader at Colonial Middle School in Lafayette Hill.

The other forms of neurofibromatosis — NF2 and schwannomatosis — are even more rare and typically diagnosed among adults.

Though it’s a genetically inherited disease, only half of the children with NF1 inherit it from a parent who also has the disorder. The other half get it spontaneously through a genetic mutation. Each child of an affected parent has a 50% chance of inheriting the gene mutation.

“So if one of your parents doesn’t have it, no one knows to look out for it,” said Jane Minturn, a neuro-oncologist at Children’s Hospital of Philadelphia and Amaya’s doctor.

» READ MORE: Pediatric brain cancer is rare. A CHOP doctor explains why some kids are more vulnerable than others.

Since she was a baby, Amaya had large bottom gums and light brown freckles, called cafe au lait spots, on her body — two symptoms of NF. But it wasn’t until she was 4 years old and could sit still for a CAT scan that she was diagnosed with the disorder.

Amaya’s doctors found several tumors in her optic pathway, which can affect the brain, optic nerves and hypothalamus.

“Kids can lose vision before they are even diagnosed with NF1,” Minturn said.

Amaya was carefully monitored every three months with an MRI for changes in the tumors’ size or shape. In 2020, a tumor on her cerebellum had grown rapidly, and her doctors worried it would affect her motor skills if not removed.

The surgery was a success. Amaya still has at least seven tumors in her mouth, neck, head and the orbits that surround her eyes.

“Her daily life is unpredictable,” said Amaya’s mother, Ursula Rottloff. “If it’s hot outside or humid, we have to be careful because she can get violently ill. That’s hard for a 13-year-old.”

While there is no road map for how NF1 will affect someone with the disorder, they are at a higher lifetime risk of other malignancies, such as cancer.

Because it’s so hard to predict whether NF1 will lead to more serious complications, patients live with “continuous anxiety of not knowing what’s going to happen to you tomorrow,” Bakker said.

“One parent described it as walking through a train tunnel in the dark. You don’t know when the train is going to come,” Bakker said. “But if it comes it may hit you really hard.”

Amaya depends on support from her siblings — two older brothers, Caleb and Justin, and a younger sister, Briella. No one else in the family has NF.

After Amaya’s diagnosis, Ron and Ursula Rottloff were scared about what NF would mean for their daughter. But rather than dwell on the unknown challenges ahead, they got to work researching and connecting with other families.

“We wanted to be as educated as we could to give the best possible care to our daughter,” Ron said.

Diagnosing NF1 early is important, but can be challenging since many parents don’t know what to look for. Common symptoms among children include large light-colored spots called cafe au lait spots, freckles in the armpits and groin, pea-sized bumps on or under the skin, large head size and short stature, according to the Mayo Clinic. Bone deformities, such as a curved spine or bowed legs may also be a sign of NF1. The disorder must be confirmed by genetic testing.

While there is no cure for NF, new treatments are on the horizon. AstraZeneca’s Koselugo was approved by the Food and Drug Administration in 2020 as part of an initiative to expedite treatment for rare diseases. Clinical studies found the drug shrunk plexiform neurofibromas by at least 20%.

“It is a great start to do more for our patients,” Bakker said.

There are currently 50 ongoing clinical trials and research studies for patients with NF1. The key is going to be non-toxic targeted therapies, said Minturn.

She hopes the pipeline of new treatments will help curb complications from NF earlier. Bakker encourages parents to speak with their pediatrician if they have any concerns about the freckles they see on their child’s skin.

Amaya inherited her parents’ forward-looking outlook on life. She lives in the moment, which right now, makes her a history-loving eighth grader.

“Her future is what she wants to make of it,” said Ron.