Rare Disease Day

It’s a genetic disorder typically diagnosed in childhood that’s more prevalent than cystic fibrosis, hereditary muscular dystrophy, Huntington’s disease and Tay-Sachs disease combined, and yet, you’ve probably never heard of it.

Neurofibromatosis, or NF, is an under-the-radar yet no less debilitating condition that causes tumors to grow on or around nerve tissue, including the brain, which can trigger blindness, chronic pain and developmental delays.

Of the three types of neurofibromatosis, NF1 affects one in every 3,000 children – the most common neurological disorder caused by mutations in a single gene, according to the Children’s Tumor Foundation. And yet, NF1 and its less common counterpart, NF2, which affects one in every 40,000 children, are often grouped with other rare diseases – which causes advocates to struggle to raise both awareness and research dollars.

“In general, we all know someone, whether we realize it or not, who has NF, but the symptoms are so varied that it ends up being a rare disorder by virtue of people not understanding what it is,” says Dr. Kent Robertson, a pediatric hematologist and oncologist at Riley Hospital for Children at Indiana University Health who is helping lead NF research.

To mark Rare Disease Day on February 28, educate yourself on the basics of neurofibromatosis and the game-changing progress being made right here in Indianapolis.

What are the signs of neurofibromatosis?

The more common NF1 is usually diagnosed in childhood, with some of the earliest visible signs being the development of café-au-lait spots. While plenty of healthy people have one or two of the small, light-brown birthmarks, children with six or more spots that are at least half a centimeter or larger likely have NF1, according to the Neurofibromatosis Network. Other skin changes can include tumors on the bottom layer of the skin and large skin or nerve tumors.

NF is also typically characterized by an unusually large head size and skeletal malformations, including scoliosis and bowing of the lower legs.

What we can’t see from the outside, of course, are the tumors that develop along nerve tissue, which can cause a variety of problems as they press on vital organs, including breathing issues, digestive problems and high blood pressure

Who is at risk to develop neurofibromatosis?

NF affects both sexes and all races and ethnic groups. NF1 and NF2 are caused by mutations in two different genes. Researchers have found that about 50 percent of those with NF have a prior family history of the disorder, while the other 50 percent of cases are the result of spontaneous genetic mutation.

How is neurofibromatosis treated?

While some symptoms of NF can be successfully treated, the tumors at the root cause of the problem have historically been nearly impossible to eradicate effectively – too slow-growing for radiation or chemotherapy and too close to vital organs for surgery.

The Cancer & Blood Diseases Department at Riley is one of only a few centers in the country researching what prompts the tumors to start growing in the first place. “If you can understand the trigger point, you can potentially stop them,” Robertson says. “Ideally, you’d like to get them to shrink away, but it’s also worthwhile if you can just plain stop them.”

Riley is one of 13 sites that make up the NF Clinical Trials Consortium, a worldwide group aimed at making it easier to conduct clinical trials related to NF. Robertson says several drugs have shown promising results in stopping tumors from growing, which would mark a real advancement in the field. “Ten years ago, there wasn’t anything you could really offer (NF patients), and these things would just continue to grow,” he says. “Now, we’re finding more and more fascinating trigger points, so it’s come a long way, but there’s more to go. There’s always more to do.”

For more resources and information about NF, visit NFnetwork.org, NFmidwest.org and rileychildrens.org/health-info/neurofibromatosis.


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