Overlooked Disease Affects 1 In 3,000 Children

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.

  • nate

    I’m not understanding the French words being used within the context of symptoms for a seemingly rare/unheard of disease…which by association sounds to me like it came from France but thats just me…someone wanna clue me in as to what “Café’ au lait birthmarks” are? Thanks.

    • Brandon Stumbaugh

      “cafe Au Lait” Literally means Coffee with Milk and as far as birthmarks go they are basicaly what most people think of as “brown birthmarks” By themselves they mean very little and a large number of people in the general population have them. They are a “side effect” or “symptom” of NF (but neither is really very accurate since again, the birthmarks aren’t dangerous). There are several ways to diagnose NF, but the official means is by having 2 or more conditions off of a list of 7 or so different things. One of those diagnosis criteria is having 6 or more of these Cafe Au Lait spots.

    • nate

      And just so people are aware before they yell “Watch the video” my browser at work does not allow videos.

  • Tresa Williams

    Cafe’ au lait means coffee with milk. It is the color of the birthmarks. They are tan and can get darker and bigger as the child grows. Some people have one or two of these birthmarks and they mean nothing. But with NF you are most certain to have many more. My daughter is 2. She was born with just one birthmark. By her 8 week check-up she had like 9. She was tested and at 5 months old, it was confirmed. Her NF is by spontaneous mutation. The rest is to come. Thanks

    • nate

      I appreciate the response and the detailed information. I am very sorry to hear that your daughter has this condition. I wish her, your family, the family in the article, and anyone else confronted with this the best of luck and many happy years. Hopefully the researchers will make tremendous strides in as short a time as possible judging by what was said in the article.

  • http://minnesota.cbslocal.com/2011/07/25/overlooked-disease-affects-1-in-3000-children-2/ Overlooked Disease Affects 1 In 3,000 Children « CBS Minnesota

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  • http://minnesota.cbslocal.com/2011/07/25/overlooked-disease-affects-1-in-3000-children-2/ Overlooked Disease Affects 1 In 3,000 Children « CBS Minnesota

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  • Don

    … I am from New Jersey. Please let me state that NF is, in fact, NOT a disease. You cannot catch NF. It is a genetic disorder; there is a difference.

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