Living with Neurofibromatosis

By: Nicole Holt Email
By: Nicole Holt Email

Nearly one in approximately 3,000 children are born with a genetic disorder called Neurofibromatosis. This disorder is known for causing tumors, possibly even deformities, cancer, vision loss and many other challenges.

Eleven year old Terra Carr of Calera has the genetic disorder. Terra’s an average teen that’s active in just about every sport and loves to be around her family.

Terra’s mother Deanna says, “Neurofibromatosis is “neuro” for nerves, “fibromas” that can grow on the ends of nerves. Anywhere you have nerves on your body, you can get tumors.”

For Terra those tumors can be painful. “Sometimes it feels like something is jabbing into my foot. The other day I couldn't even walk on the heel of my foot. I had to walk on my toes it hurt so bad.”

There are two types of Neurofibromatosis—Type I and Type II. Type II can be deadly, causing cancerous tumors and other deadly diseases. Terra's form of NF, however, is more common and less scary. In fact, Type I is seen more often than Multiple Sclerosis and Lou Gehrig's Disease. It’s just diagnosing the disorder that seems to be the difficult part.

Dr. Timothy Brumit, M.D., has been Terra’s doctor since she was born. "Neurofibromatosis is a disease mainly manifested by changes in the skin, in the nerves of the patient. It’s something for the most part hereditary.” The problem was, no one in Terra’s family had the disorder. Deanna says, “They call it spontaneous mutation because no one in my family has it nor my husbands.”

“When Terra was born on her left leg, on her upper thigh she had a very large texture or discoloration to her skin. I had never really seen that kind of lesion. It covered most of her thigh.”

A seemingly healthy baby, Dr. Brumit sent Terra to a dermatologist. The specialist saw nothing out of the ordinary, but said you might want to keep a close eye. Little did they know, by the time Terra was six weeks old, these little brown circles better known as Cafe Au Lait spots would cover the little girl’s body. “We began counting them. After a while there were too many, we couldn't keep track. We sent her back to the dermatologist and had her tested for neurofibromatosis II. They said yes we believe that you are right. When Terra was six months old, we had the genetic testing done and test came back positive.""

While there is no cure for NF doctors say it is important to see the warning signs: freckles under the arm or lesions in the eyes. For Terra life is normal and she hopes it will remain that way. Her challenge is wondering if the disorder will get worse. Doctors say she will pass the disorder along if she has children, the severity is unknown. For now, it's just coping with the pain of the tumors and hoping they don't grow. All while, spreading the word of awareness. “I want to meet others and start fundraisers to help those that are almost dying from neurofibromatosis. Nf2. Because NF2 is much worse it can cause cancer."

There are not a lot of children in this area with neurofibromatosis so a company out of California has set up a book and teddy bear named "Buddy" they are sending to children with this disorder. The book tells a child's perspective of NF and educates those who read it about various side effects. The bear is also passed on from child to child with a note specially written from the previous owner about Buddys' adventures.

To learn more about Neurofibromatosis and Buddy log onto: http://www.ctf.org/.


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