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Monday, 07 March 2016 09:08

Rare Diseases on a Rare Day

By | News
Rare Diseases on a Rare Day

SARATOGA SPRINGS – The last day of February is Rare Disease Day, a worldwide campaign that raises awareness about rare diseases and how they impact patients’ lives. According to the National Institutes of Health (NIH), a disease is considered rare in the United States if it has a prevalence of fewer than 200,000 affected individuals, and currently, there are 7,000 rare diseases that have been identified. On Monday, February 29, fittingly the rarest day on the calendar, a rare disease movie event and fundraiser took place at Bowtie Cinemas in Saratoga, which brought together community members, patients and their families for an inspiring night of awareness and advocacy. 

The sold-out movie night featured five local families affected by rare diseases, and showed films about the families’ experiences. 100 percent of ticket sales and donations benefitted the National Organization for Rare Diseases’ (NORD) RareCare Undiagnosed Program, which helps patients with mysterious, undiagnosed illnesses pay for diagnostic testing. 

The DeFabio family, who lives in Ballston Spa, was one of the families involved in the movie night and shared with the audience a documentary about their seven-year-old son Lucas DeFabio, who suffers from Menkes Disease. Daniel DeFabio, Lucas’s father, created the film, titled, “Menkes Disease: Finding Help and Hope.” 

“One of the things, when facing a rare disease, is that awareness can lead to more research and even a cure, so you want to shout that out all the time. It can never be said enough,” said Daniel DeFabio. “Rare Disease Day is promoted all around the world, and not only helps the cause, but it gives [families] more of a push, too. It validates our efforts.”

Lucas was diagnosed with Menkes Disease when he was one-year-old. Menkes Disease is a recessive disorder that affects levels of copper in the body, causing the brain, muscles and hair to not develop properly. If treatment is given within the first ten days of life, the prognosis for Menkes is good, but early treatment is difficult, as rare diseases such as Menkes are hard to diagnose. Lucas may not be able to eat, talk or walk on his own, but he brings pure joy to his family with his sunny personality and positive outlook.

“He’s just a happy guy right now,” said DeFabio. “Lucas is smiling and laughing all the time. It helps me to focus on the positive when he is so positive. He’s got a wicked sense of humor that keeps us in check. If we’re overexerting ourselves, he’ll crack up, and you just look at him laughing. Despite his limited abilities, he changes the rest of us. He changes our attitudes.”

DeFabio became involved with the movie night after going to a rare disease conference in Huntington Beach, California. Coincidently, that was where he met Dan Bobear, the president and founder of The Patient Experience Project (PEP) in Saratoga Springs. PEP, which hosted the rare disease movie night, is a communications firm that works directly with patients to make sure they have a prominent voice in the healthcare, pharmaceutical, and biotech industries. 

“We did [the movie night] because a lot of our work is with rare disease patients and their families, and we wanted to give back through a community-based event,” said Bobear. “It also filled up our tank emotionally at PEP. Our staff cares about people, and spending time with the people we do this for make us feel rejuvenated.” 

Bobear explained how raising awareness for rare diseases is vital to improving medical care for patients, for a variety of reasons. 

“If you look at healthcare, a lot of these conditions are ones you never see and often, you don’t know it when you do see it. Doctors work by routines and patterns, and if they don’t see these people, they fall between the cracks. Getting a care team is really hard, and misdiagnoses are common.”

Bobear also noted how since the market for drugs that help rare disease patients is so small, it’s difficult to justify the expense of bringing these drugs to market. Furthermore, when medications are available, they can be incredibly expensive. The more awareness there is of rare diseases, however, the more scientific research can go into helping these patients with new therapies and treatment. 

“1 in 10 Americans have a rare disease, which means that rare isn’t so rare when you look at the big picture,” Bobear said. 

As for DeFabio and his son, they are taking life day-by-day, and making each moment count. 

“You have to reset your expectations,” said DeFabio. “Longer term plans aren’t as important. Getting the chance to play with Lucas today and hug him today is the greatest thing, so who knows what tomorrow will be.” 

For more information about Rare Disease Day and rare diseases in general, visit the National Organization for Rare Diseases’ website at rarediseases.org. For more information about The Patient Experience Project, visit the-pep.com. 







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