HomeScienceGeneticsA rare neurological disorder makes for an unpredictable childhood, but this Montco...

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

Amaya Rottloff loves to run around outside with her dogs. But if it is hot and humid, she can become very ill.

Every three months, she gets an MRI to monitor tumors in her brain. So far, they’re all benign, but they could one day become brain cancer.

Amaya, 13, lives with neurofibromatosis, a group of genetic disorders that cause tumors to grow on the nervous system. The way the condition affects a person depends on exactly where 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 for hearing and vision loss, learning disabilities, heart problems and severe pain. For some, the tumors can become cancerous.

“It is very difficult to tell patients what will happen to them,” says Bakker. “If they don’t develop tumors, they still live in constant fear from one MRI scan to another.”

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 if she’s too hot or too loud. She has been diagnosed with ADHD, which is common in 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,” says Amaya, an 8th grader at Colonial Middle School in Lafayette Hill.

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The other forms of neurofibromatosis – NF2 and schwannomatosis – are even rarer and usually diagnosed in adults.

Although it is a genetically inherited disease, only half of children with NF1 inherit it from a parent who also has the condition. 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, nobody knows to look forward to it,” says Jane Minturn, a neuro-oncologist at Children’s Hospital in Philadelphia and Amaya’s physician.

Since she was a baby, Amaya had large gums on the bottom 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 able to sit still for a CAT scan that she was diagnosed with the condition.

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

“Children can lose vision before they’re even diagnosed with NF1,” Minturn said.

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

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

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

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While there is no roadmap for how NF1 will affect someone with the condition, they have 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 “constant fear 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 coming’, said Bakker. “But when it comes, it can hit you really hard.”

Amaya depends on the support of 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 feared what NF would mean for their daughter. But instead of dwelling on the unknown challenges ahead, they set out to research and connect with other families.

“We wanted to be trained as best we could to provide the best possible care for our daughter,” said Ron.

Early diagnosis of NF1 is important but can be challenging because many parents don’t know what to look for. Common symptoms in 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 bent legs, can also be a sign of NF1. The condition 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 accelerate the treatment of rare diseases. Clinical studies found that the drug shrank plexiform neurofibromas by at least 20%.

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“It’s a good start to do more for our patients,” says Bakker.

There are currently 50 ongoing clinical trials and research studies for patients with NF1. The key will be nontoxic targeted therapies, Minturn said.

She hopes the pipeline of new treatments will help curb the complications of NF sooner. Bakker encourages parents to talk to their pediatrician if they are concerned about the freckles they see on their child’s skin.

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

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

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