Fight Must Continue Despite Economy, Says Local Family

By Stephanie Mariel Petrellese

The recession has not deterred the Genova family of Garden City from keeping up with their awareness and fundraising work in the hopes that a cure for cystic fibrosis will soon be found.

"Unfortunately we can't take a break from efforts that could lead to a cure for a devastating disease like cystic fibrosis (CF). The science is truly there - the funding just is not," wrote Danielle and Matt in their fundraising letter.

Matt and Danielle Genova, along with their sons Jake and Max, have been very active in Great Strides, the Cystic Fibrosis Foundation's largest national fund-raising event, since Jake was diagnosed with the disease in 2002. In 2003, Danielle and Matt organized "Jake's Team" and every year since the family has worked tirelessly to raise money and awareness.

This year, the Great Strides walk will be held on Saturday, May 30 at 10 a.m. on the south campus of Hofstra University. Registration begins at 9 a.m.

To join "Jake's Team," visit www.cff.org/great_strides/jakesteam and click on "Click to Donate." You do not have to actually walk to become a member of "Jake's Team." For more information, call Danielle Genova at (516) 248-8686.

If you prefer to mail a donation, make checks payable to "Jake's Team" and mail to 80 Wellington Rd., Garden City, NY 11530. More than 90 cents of every dollar raised goes directly to funding the potential cure for this disease.

In the past five years, the CF Foundation has given over $600 million to pharmaceutical companies to drive potential drugs through the "research pipeline." Still, cystic fibrosis receives no federal funding and must rely on money raised through the efforts of families afflicted by the disease.

Fortunately, Jake's health has remained fairly stable. Now almost 10 years old and a fourth-grader at Stratford School, he has recently started golf lessons and is also taking drum lessons at the Music Academy of Garden City. A serious Nintendo DS player, he is excited about attending a camp at Hofstra this summer to learn how to actually develop the video games.

However, he must continue to go through a rigorous daily regimen so he can remain active. He must start every morning with chest physiotherapy using an electronic vest. He also uses a nebulizer for inhalation therapy. These two therapies help combat mucous buildup in the lungs. He also takes a variety of other medicines to control and prevent inflammation. This year his medications had to be increased twice due to bacterial infections in his lungs.

Jake must also takes enzymes before every snack and meal that contains fat to help him properly digest. He ends each day with another round of chest physiotherapy. Once every four to six weeks Jake has a check-up at the CF Center at Schneider Children's Hospital.

One way Danielle generates interest in their cause is by speaking at elementary schools about the disease. Cystic fibrosis (CF) affects 30,000 people, making it the most lethal genetic disorder in the country. Although researchers have discovered therapies and drugs that have extended the lives of people with CF, a cure has yet to be found. In 1989, scientists were able to isolate the defective gene that causes the body to produce the thick, sticky mucous that clogs the lungs and leads to life-threatening lung infections. The mucous can also obstruct the pancreas, preventing digestive enzymes from reaching the intestines to help break down and absorb food. Some patients experience liver damage if the mucous blocks the bile duct.

In an interview published on Tuesday in the online Health Guide of "The New York Times," Dr. Preston W. Campbell III, executive vice president for medical affairs at the Cystic Fibrosis Foundation and a pediatric pulmonologist at Johns Hopkins Hospital in Baltimore, predicted that a cure for the disease will be found. "I would not be here if I didn't think we could cure cystic fibrosis," he said. "We have over 30 drugs in development, a number of which have the potential to address the basic defects. I think it is unlikely that in the next 20 years we will have a treatment that is a one-time fix. It is going to be more like asthma, where patients must take medications for the rest of their lives but rarely die from their disease because they can control it. We hope that, in time, it will be the same story with cystic fibrosis."

For more information on cystic fibrosis, call the Cystic Fibrosis Foundation at (516) 827-1290 or visit www.cff.org.