2002 brought good tidings and troubling news to the Genova family.
Garden City residents Danielle and her husband, Matt, learned they were expecting. Parents to Jake, who was 3 at the time, they were excited to add to their family.
It was during routine prenatal testing that the couple discovered that Danielle carried the cystic fibrosis (CF) gene. This testing was not available during her first pregnancy with Jake. In 2001 The American College of Obstetricians and Gynecologists began recommending that physicians offer carrier testing.
Testing was recommended for her husband as well, who found out a week later he was also a carrier. Shock led to fear as they worried about the fate of their unborn child. Testing on their unborn child revealed he shared carrier status like his parents but did not have the disease.
Ease led to relief but little did the couple know that their worries were not over and it would be Genova herself who would put the pieces together for her son, Jake, who had been having gastrointestinal issues. Doctors were puzzled by Jake’s symptoms and suspected celiac or Crohn’s disease.
It was Genova who asked if the symptoms could be related to CF. Five minutes later, after a sweat test, it was determined he was suffering from CF. Jake was born healthy and didn’t have any of the classic symptoms, such as coughing.
Cystic Fibrosis (CF) affects about 30,000 people in the United States and approximately 70,000 people worldwide. It is a life threatening genetic disease that affects the lungs and digestive system.
“It was devastating and it gets worse when you start reading about the disease,” shared Genova. “However, the next day, I sprung into action. I found my inner strength to fight this disease, not just for Jake but for all sufferers.”
True to her word, Genova hasn’t stopped. She’s teamed up with the Cystic Fibrosis Foundation and in eight years has raised a half a million dollars. Genova established “Jake’s Team” in conjunction with the Great Strides Walk For CF and hosts a Halloween party every year called “Costumes For a Cure.” Genova also supports parents whose children are newly diagnosed.
“You hate to ask people for money but the promising advances that have been made would not be possible without fundraising,” said Genova. “Ninety cents of every dollar goes directly to research. CF is considered an orphan disease and despite having many political and celebrity advocates, the government does not contribute a single dime toward CF research.”
Arlene Dayboch, senior development director for the Cystic Fibrosis Foundation, said Genova has been an invaluable partner.
“If we didn’t have support from parents like Danielle research for new medications would not be in development,” added Dayboch. “One recent breakthrough is VX770 a drug that has improved lung function in a clinical trial. This research is quite promising.”
Though the past nine years have been difficult for the Genova family, Jake is doing quite well. He’s a well-adjusted 12-year-old who will be entering seventh grade this fall and despite time consuming drug and physical therapies, he’s an honor student and an enthusiastic technophile.
“Love, pray, fundraise” would be an ideal way to describe Genova’s life but she wouldn’t want it any other way. She says she’s always been a “pay it forward type of person” and since her son’s diagnosis she’s found her true calling.
If you would like to make a donation to “Jake’’s Team” visit: www.cff.org/great_strides/jakesteam. “Costumes For A Cure” will be held Oct. 22 at the Plattdeusche Park Restaurant at 1132 Hempstead Turnpike in Franklin Square. For further information, email Danielle Genova at firstname.lastname@example.org.