Friday, August 15, 2014

Fundraising and fighting for a cure

HOLDING ON TIGHT: Cellucci with daughter, Maible

In 2012, when 30-year-old Quincy resident Alex Cellucci was nine months pregnant, she was diagnosed with neurofibromatosis (NF), a genetic disorder that disturbs cell growth in the nervous system, enabling tumors to grow on any nerve in the body.

“I was not expecting to have the test come back positive, especially at nine months pregnant,” Cellucci says. “I didn’t really have a chance to be scared or sad or upset. I just thought, I need to figure out what is best for my baby, then we will figure the rest out.”

Cellucci has NF2, one of three forms of the disease characterized by vestibular schwannomas, a type of tumor. Patients with NF2 typically have tumors on their auditory nerves. Cellucci is not alone; her younger sister, older sister and father all have NF.

“It is very serious,” says Cellucci’s doctor, Scott Plotkin, MD, director of the Family Center for Neurofibromatosis in the MGH Department of Neurology, who also treats Cellucci’s sisters and father. “It is not cancer in the sense that overall mortality is shortened. Many people can live a full life; however, they may go completely deaf, blind and lose the ability to walk.

NF has created a “dark cloud over life,” Cellucci says. “It’s an unpredictable storm that just follows our family around.”

Cellucci watched as her older sister suffered through spinal surgery and a tumor in her liver. When she was in first-grade, her father was diagnosed with a brain tumor. Her younger sister was diagnosed with NF in high school and that same year had her first brain surgery. Cellucci has not had any surgeries but has a tumor on her auditory nerves and multiple tumors on her spine.

But Cellucci and her family do not sit back and succumb to the disease. They fight back by being proactive and partnering with neurofibromatosis organizations to help raise funds to find a cure.

Cellucci participates in various cycling and running competitions to raise money. Her uncle, Bill Palmer, who works in the MGH locksmith office, also assists with fundraising.

“As soon as Alex was diagnosed, she became active in fundraising right away – like running the Falmouth Road Race,” Palmer says. “She’s doing great work. A cure is possible for this disease.”

Although that cure has not been discovered, there are various treatments – including surgery and radiation – depending on the patient’s condition. Researchers at MGH are studying medical treatments for tumors caused by NF2. Like other patients, Cellucci visits the doctor on a regular basis to monitor her tumors. She is stable for now but worries that her now two-year-old daughter, Maible, will test positive for the disease. Each child of a patient with NF2 has a 50 percent chance of inheriting the disease.

“There are lots of ups and downs,” Plotkin says. “When we go through rough patches it is hard, but Alex has been really strong and has coped very well.”

Read more articles from the 08/15/14 Hotline issue.


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