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Neurofibromatosis: Federal Way family gets a grip on lifelong pain
For 19-year-old Federal Way resident Ashley Vacanti, pain has been a constant companion in her young life. Diagnosed at two and a half months old with neurofibromatosis, Vacanti has spent a lifetime in doctors’ rooms and surgery wings, battling this common but mostly unknown disorder.
For Vacanti, the realization that her experience was different from her peers came at an early age.
“I guess I’ve always kind of known because I would have appointments at Children’s (Hospital) all the time,” she said. “After all the CT scans, I just realized there was something different about me.”
According to the Children’s Tumor Foundation, neurofibromatosis “encompasses a set of distinct genetic disorders that causes tumors to grow along various types of nerves.”
There are three types of neurofibromatosis: NF1, NF2 and Schwannomatosis. The types are differentiated at a genetic and chromosomal level, and also in the ways they manifest themselves physically within the patient.
Vacanti was diagnosed with NF1, which occurs in 1 out of every 3,000 live births, and is more common than cystic fibrosis, Duchenne muscular dystrophy and Huntington’s Disease. According to the Children’s Tumor Foundation, most NF1 cases are “mild to moderate,” but can lead to disfigurement, blindness and skeletal abnormalities as well as dermal, brain and spine tumors, loss of limbs, malignancies and learning disabilities. NF2 almost always causes deafness in those affected, usually by age 20. Schwannomatosis is mostly characterized by chronic pain in patients.
The disorder manifests itself as either a pure genetic mutation, or is hereditary. Vacanti is one patients to whom the disorder just happened. Because of that, Vacanti herself has a 50 percent chance of passing NF to any children of hers.
In Ashley’s case, NF has expressed itself in an invisible manner, said Becky Vacanti, her mother.
“Ashley has innumerable internal tumors,” Becky Vacanti said. “They cause chronic pain (for her) because of their location.”
Her unseen sickness caused some problems for Ashley, especially in middle school, she said.
“Once I got older, I realized there was something really different about me, and that was difficult to grasp,” Ashley said. “It’s hard because when I was in middle school ... I have my own wheelchair. And so some days, I’d be in my wheelchair and some days I wouldn’t. And then people thought I was faking it because they can’t see the tumors. I was bullied, and that just made things a lot harder for me.”
One of the most difficult challenges for anyone with NF is treatment, especially in a case like Ashley’s, where the disorder appears as internal tumors. The only treatment is surgery, and surgeons are often reluctant to attempt such procedures.
“Often, surgery cannot be performed when you’re cutting around a nerve, or cutting the nerve,” Becky Vacanti said. “So many surgeons are even reluctant to entertain the idea of surgery for that very reason.”
For Ashley, surgery has become commonplace. Over the last few years alone, she’s had a couple dozen surgeries. There’s still anxiety every time Ashley has to go under the knife.
When asked if it’s become routine for her, Becky laughed, saying it never becomes normal.
“It’s interesting because people do think that. But it’s never routine. Every time is just as difficult,” Becky said.
Ashley said facing surgery is still difficult, but there has been one positive as she’s gotten older.
“I’ve gotten used to it, but at the same time, I haven’t,” she said. “I still get a little scared, I still get nervous and anxious.”
For any parent who’s ever seen their child in pain, it’s easy to identify with the absolute sense of helplessness Becky has felt throughout Ashley’s battle with NF.
“You never want your kids to be in pain, you don’t want them to hurt,” she said, her voice becoming thick with emotion. “You want them to have happy, joyful days. So to watch someone that you love so much go through all of that, it’s tough. But she’s amazing.”
While Ashley’s life has been far different than most of her peers, the joy of a 19-year-old still flashes through in moments.
In 2006, she had a wish granted from the Make-A-Wish Foundation to see the Vans Warped Tour at the Gorge Amphitheatre. Since then, she’s been a regular at the annual show.
Showing off her VIP passes from the past five years, and an autographed guitar, Ashley is all smiles.
“They signed this for me,” she said. “That was the day of my Make-A-Wish trip.”
As she showed off her guitar, Ashley and Becky had a typical mother-daughter exchange, a reminder of the normality in Ashley’s not-so-normal life.
“It’s dusty,” Ashley said, wiping at the smooth white surface of her prized guitar.
“Honey, don’t wipe off the signatures there,” said Becky.
“Mom, dad sprayed stuff on it so they wouldn’t come off,” Ashley said, that familiar scolding teen tone in her voice.
“I know,” said Becky, smiling.
• For more information on neurofibromatosis and how to help, visit www.ctf.org.
• Ashley’s CaringBridge site can be found at www.caringbridge.org/visit/ashleyv.
• Her father, Dan, will be climbing Mt. Rainier in August. Those interested in joining him or donating can visit www.active.com/donate/NFRainier2011/dvacant.