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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Comments are posted from viewers like you and do not always reflect the views of this station.
  • by vicky Location: lynchburg va on Mar 14, 2012 at 07:56 AM
    im a 34 year old lady children and me and my oldest son have nf in 2010 my son had to have his back redone. this year im started to stuffer with chest surgery and no i have to get a tomur remov ed this is a something we need to bring more to america notice so the can work on a cure.lets speak out and be notice
  • by Anonymous on Oct 13, 2010 at 04:52 AM
    Hi...32 with NF older child have NF too. Luckily 2 ther children dont have it. Possibly 8 mo may have doing testing at this point. Email me at ejjaa4@yahoo.com
  • by eva Location: ny on Aug 9, 2009 at 09:14 AM
    if any one wants to email me i wrote before im 32 yrs old living with nf1. i have three children two of them have it one does not
  • by eva Location: ny on Aug 9, 2009 at 08:43 AM
    my email adress is evahimmel@aol.com email me at any time i have nf1 and two out of three of my children have nf i have a 12yrold she dont have it but my 10 and 16month old does my 16month old does not have any problems so far but my 10 yr old had to have brain surgery when she was 7 she is doing fine now the doctors think it might never happen again
  • by Al on Feb 26, 2009 at 11:43 AM
    This site was very helpful for my project. Thank you
  • by Hilarie Location: Springer on Jul 17, 2008 at 10:23 AM
    I sorry I did not put my E-mail it is angel5436@brightok.net
  • by Hilarie Location: Springer on Jul 15, 2008 at 03:57 PM
    Hi I am a single mother of 3 boys that has NEUROFIBROMATOSIS type 1(nf1) my oldest is going to have his right leg remove to help him.can e-mail me anytime
  • by Terra Location: Calera on Jul 5, 2008 at 09:50 AM
    Thank you for your comments and blessings. If you want to e-mail me, my e-mail is freespirit74730@yahoo.com. I would like to meet other children with this disorder.
  • by angie on Jul 3, 2008 at 06:48 PM
    I know understand all that you go threw. I have two children with this disease. The oldest has quiet a few problems on her part. Her skull really never got bigger so they had to expand it last year. We have MRI'S many times a year to monitor her tumors that are growing inwards. She although is a normal child , loves to play although sports are no longer a option (her nurosurgon wont allow it any longer). But she loves to dance and her close friends all know about this disease. The younger brother whom has it, is ok, just lots of the angel kisses as we now call them. But both are sharp as a tack, and he plays all sports and has a ton of fun (he doesnt even really know anything is wrong0. We all understand what your daily life is like how the ups and downs come and go.. One min you feel great and the next you may have a headache the size of texas... I would love to let our two girls meet and know that more kids have this disease in this area!!! May god bless you and your family!!!!!
  • by aunt Location: ardmore ok on Jul 3, 2008 at 01:58 PM
    All three of my nephews under the age of twelve deal with this disease. They all have different problems, the oldest will have his leg amputated next month because of a tumor in his leg that makes it almost a foot longer and three times bigger around than the other. He is excited though and we're excited for him. Now he may be able to do things he couldnt before with the help of a prosthetic leg of course. The other two have the cafe au alait spots but suffer more with the mental side effects of this disease. The sad thing is they inherited it from their father and he ran out on them several years ago leaving my sister to raise the very challenging children herself. I hope they find more ways to help all children and their families with this disease.
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