For Eva: Five years, one goal, for a cure
Friends and family excited about research breakthrough at this year's 'Eva-ning of Hope'
Eva is not as severely affected as many others with the disease. She loves horseback riding. She’s non-verbal at present but gives wonderful kisses and hugs.
By Edie Johnson
GOSHEN — Everywhere there were signs of love and hope for little Eva Fini at "Eva-ning of Hope," a fundraiser held in her honor at the hilltop home of her parents, Albert and Aimee Fini of Goshen.
Guests nibbled hors d'oeuvres while listening to the Jon Bates Band and admiring the sunset over the lower Hudson Valley. Eva, who is afflicted with Rett Syndrome, has quite a team rooting for her. More than 100 local businesses contributed to the event with funds and with prizes for the auction held at the party.
Her parents held a fundraiser earlier this month at The Great American Weekend, complete with ball tosses and a dunk tank. (Even Goshen Mayor Kyle Roddey took his turn at a dunk.) Eva's sisters staffed the booth and throughout the year sold "Team Eva" tee-shirts. A group of Eva's supporters will run the Hambletonian race for her this fall. Team Eva's resolve to see a cure in five years is getting stronger as researchers close in on it.
Family and friends would like you to know a few things about Eva: She may have trouble communicating, but she's intelligent and understands everything going on around her. She attends public school in Goshen and will enter third grade this year. She has many friends and experts at the school who help her out.
Despite her challenges, Eva is not as severely affected as many others with the disease. She loves horseback riding. She is non-verbal at present, but gives wonderful kisses and hugs. She adores her sisters, and they adore her. Eva is interested in computers, and her family hopes she may soon be able to use a special communication device. This year she received her First Communion.
The cure is so close, everyone who knows Eva prays it will be soon enough so that she can enjoy the rest of her childhood care-free. The Eva-ning's theme was: "Five Years — One Goal — To Reverse Rett Syndrome."
Rett affects little girls
Rett researchers have already made progress in breakthrough treatments that alleviate the symptoms of the disease, which robs little girls of their ability to communicate. In some cases the girls are unable to perform many simple daily activities because their muscle function is not coordinated. Some girls have seizures. Even digestion is a problem for many Rett patients.
Rett Syndrome is listed as an autism spectrum disorder, and little was known about it until recently. It usually affects girls who have otherwise developed normally until about 18 months of age. They have often begun walking and talking, but then they regress. Rett is different from other autism spectrum disorders: there is a known cause, a damaged gene with a deficiency of MeCP2 protein on the X-chromosome, and several pathways toward a cure.
Eva Fini fundraising events benefit the Rett Syndrome Research Trust, a small group of researchers. Their funding is primarily through private donations. Related research on autism spectrum disorders will reach the end of its funding unless Congress acts this month.
Researchers have in the past five years have not only identified the cause, a defective gene, but have been able to reverse symptoms in mice. The most promising treatments involve gene therapy. If the extra copy of the damaged gene with a healthy MeCP2 protein can be awakened, the problem in sequence of synapses that causes the disorder would likely disappear.
Statin drugs have been shown to be effective in reducing symptoms.
MUST READ NEWS
Sign up to get our newsletter emailed to you every week!
- Enter your email address in the box below.
- Select the newsletters you would like to subscribe to.
- Click the 'SUBSCRIBE' button.