By Jennifer Kohlhepp, Managing Editor
Neurofibromatosis (NF) affects one in 3,000 people, more than cystic fibrosis, Duchenne muscular dystrophy, and Huntington’s disease combined. But because it effects a relatively small segment of the population it is hard to get pharmaceutical companies to fund research. Educating people about NF is therefore crucial, according to the Children’s Tumor Foundation.
Deirdre Sheean and her husband Ron Kostar, of Roosevelt, are very involved in fundraising efforts and are busy planning for the Children’s Tumor Foundation Central Jersey NF Walk, which will take place in Veterans Park in Hamilton on Sept. 26.
“A relative of ours was diagnosed with this disorder at six months of age and thankfully has ‘minor’ symptoms,” Ms. Sheean said. “Other people are not so fortunate.”
Lara Mukabenov’s daughter, Altana, or “Tati” as her family calls her, was diagnosed at one month with NF Type 1 (NF-1).
“In April 2008 they found her first plexiform neurofibroma (PN) tumor,” Ms. Mukabenov said. “This benign peripheral nerve sheath tumor runs from near her left ear around and up into her cheek and down her neck following her carotid surrounding her trachea and down to the aortic arch of her heart. It is not compromising her airway at this time but after each MRI it has grown and now she has a new smaller PNs in her arms, one in her right thigh and one at her left knee.”
In order to slow or hopefully stop its growth before it became an airway or any other issue, Tati started chemotherapy in October 2008. Since then she has completed three different chemo trials, with the final one a 24-cycle, or two-year course, that ended the second week of May this year.
“This last chemo showed more promise than any other with even some shrinkage of the tumors,” Ms. Mukabenov said. “She will now do quarterly MRIs to track their progression. It is going to be a lifelong challenge for her, but at almost 10 years old she inspires me with her strength and wisdom.”
She continued, “I think that I speak for the thousands of other parents in the region when I say that the greatest challenge with this diagnosis is that there is no way to predict how it will manifest itself. This makes my daughter’s future very uncertain. Most people with NF-1 experience mild to moderate symptoms. However, there are individuals who develop severely debilitating tumors that cause painful cosmetic and psychological issues.”
Tati is a sweet, strong, funny, intelligent, cute, kind, sarcastic, lovable and all-around amazing soon to be fifth-grader.
“Our goal is to ensure that this disease doesn’t take those beautiful qualities away from her,” her mother said. “It’s for this reason that I accepted the challenge of helping to organize the NF walk in Philadelphia and most recently with the New Jersey walk committee as well since I was born and raised a ‘Jersey Girl’ and know so many families in New Jersey affected with NF.”
Currently there is no treatment and there is no cure for NF.
“Until now, there have been few opportunities for these families/individuals to network with and gain support from others dealing with NF,” Ms. Mukabenov said. “Working with the Children’s Tumor Foundation and the Walk program has been such a gift to my family.
Eighty percent of all funds raised for our Walks help raise money to fund education and research, such as the drug trials my daughter was lucky enough to have been a part of. But most of all it also brings our NF community together and raises awareness to a much overlooked disorder.”Rebecca Silver, of the Children’s Tumor Foundation, said NF is an under-recognized genetic disorder that can cause tumors to grow on nerves throughout the body. It can lead to blindness, bone abnormalities, cancer, deafness, disfigurement, learning disabilities, and disabling pain. NF has been classified into three distinct types: NF1, NF2 and schwannomatosis.
NF affects both sexes equally and has no particular racial, geographic or ethnic distribution. Therefore, NF can appear in any family. Half of all cases of NF are inherited from a parent who has NF; the other half are the result of a new or spontaneous genetic mutation, according to Ms. Silver.
NF occurs in one in every 3,000 people of all populations and affects millions worldwide. NF2 is much rarer, occurring in 1 in 25,000 people; schwannomatosis is the most rare type of NF, occurring in 1 in 40,000 individuals, according to Ms. Silver.
“Researchers throughout the world are exploring ways to understand NF,” Ms. silver said. “Currently, there is no cure, so each symptom of NF is treated individually with interventions such as surgery, chemotherapy or medication. It is important to be evaluated by a doctor who is familiar with NF so concerns can be detected early and treated appropriately. The Children’s Tumor Foundation is dedicated to developing a clinic network of experienced NF doctors, as well as funding and supporting research to fight and eventually end NF.”
The Children’s Tumor Foundation’s NF Walk Program was established in 2009 as a community event to support NF research, raise awareness and provide support for individuals with NF and their families.
“One of the most cherished parts of the NF Walk Program is the prominence of NF Heroes, children and adults living with NF who elect to share their story and are recognized for their positive spirit and resolve. At the Central NJ Walk, these NF Heroes include kids like Tati and Logan.
Megan Christie’s 5-year-old son Logan was diagnosed with NF-1 before his second birthday. When he was diagnosed, they discovered tumors growing on his optic nerves and began monitoring him closely as he was at risk for losing vision, among other things. While monitoring his tumors, new tumors began to grow in other areas of his brain and they were starting to affect him.
“Our first signs that the tumors were causing damage was drooping on one side of his face,” Ms. Christie said. “It was at that time that the doctors felt that he needed to start on chemotherapy to stabilize the tumor growth.”
Since his diagnosis he has had 12 sedated MRIs, an ultrasound of his liver, full cardiac work-up including wearing a heart monitor at home, an overnight EEG seizure study, countless trips to the emergency room, 15 months of chemotherapy, and one hospitalization for a blood infection, as well as being followed closely by neurologists, a neuro-oncologist, a neuro-opthamologist, a neuro-psychologist, and a dermatologist.
He has tumors in his brain, in his liver and on his skin. Logan also is very affected by ADHD and learning disability, which is common in kids with NF. He will be starting kindergarten in the fall with an individualized education plan for full-time support from a special education teacher in the classroom.
Through it all, Logan is the most positive kid and he loves going to the doctor, despite the unpleasant things that they sometimes have to do to him, his mother said.
“For so many of these kids that experience this at such a young age, they don’t know any different,” Ms. Christie said. “The scariest thing for us, as with all families affected by NF, is that there is no way to know what will happen in the future. There is no predicted course or way to know what next month or next year holds for our kids. Some people with NF live relatively unaffected, and some go through life with pain and severe disability and there is no way to know what my son will face. This is a lifelong battle for him and we will only know the difficulty we will face as it comes.”
Ms. Christie grew up in New Jersey but now lives outside Washington, D.C.
“We joined in the New Jersey walk last year because our family is all still there and this was all about family, love and support,” she said. “Our families have been so supportive through this all it was amazing to join together for Logan. After participating last year, I realized it was about so much more. We met so many others living similar stories to ours and realized that we are no alone.”
She continued, “NF is more prevalent than cystic fibrosis, Duchenne muscular dystrophy and Huntington’s disease combined, yet no one has ever heard of it or knows about the struggles that so many face day to day. It feels so isolating in a way. So many NF kids face more obstacles in their first five years of life than most people do in their lifetimes and they deserve to know that people know and support them in their struggles. We need to support them, love them and help to find a cure.”
The Central Jersey NF Walk will take place on Sept. 26 starting at 8 a.m. Online registration is now open at www.nfwalk.org/nj . Find out more information at www.facebook.com/nfwalk.
