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Overlooked Disease Affects 1 In 3,000 Children

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PLYMOUTH, Minn. (WCCO) – While watching 3-year-old Jacqueline at a Plymouth daycare, one would never know she has a condition that about one in 3,000 children is born with. It is a condition more common in children than cystic fibrosis, muscular dystrophy and Huntington’s disease combined, and you have probably never heard of it.

It is neurofibromatosis, nicknamed NF, a genetic condition that causes tumors to grow along the nerves. Until Jacqueline was diagnosed, her mother, Joanne Pastel, had never heard of NF.

Pastel is a Twin Cities children’s author who writes “Bur Bur & Friends,” which features young characters with disabilities and medical conditions. But, to accomplish more for Jacqueline and other children with NF, Pastel joined the board of the Children’s Tumor Foundation, a group dedicated to “ending neurofibromatosis through research.”

“I feel so lucky that, so far, [Jacqueline] seems to have a milder case of it,” Pastel said. “But I want to be able to help everyone, and hopefully we can help find a cure for it.”

The University of Minnesota has one of the largest research centers in the world dedicated to understanding neurofibromatosis. While there is no cure yet, they have already made progress in managing the complications caused by the condition.

Dr. Christopher Moertel, a pediatric neuro-oncologist, said that the U of M’s research has made progress in managing the bone disorders caused by NF as well as the malignancies that might emanate from it.

“In the olden days, people could go blind developing optical gliomas in the context of neurofibromatosis,” he said. “Now, we’ve developed therapies that we can prevent those optic gliomas and save vision.”

There’s no newborn screening for NF. Café’ au lait birthmarks that appear in the first few months of life and get darker or more numerous are often a clue for diagnosis.

A NF forum, featuring specialists from around the country, will gather in the Twin Cities Thursday. For more information on the forum, click here.

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