FEBRUARY, 2015 5 Chatham County Line uniting to help families of children with rare diseases by nina Verin Finding out that your grandchild has been diagnosed with a rare disease is devastating. After months of uncertainty and multiple health challenges, my one-year-old grandson, Malcolm, was diagnosed with Koolen-de Vries Syndrome (KDVS). Soon after this, I turned to the Web to learn all I could it. The first and most critical information I gleaned is that as disparate as rare diseases are, patients share many common concerns and frustrations. For example, for one-third of the people with rare disorders, getting an accurate diagnosis can take one to five years. Patients must often travel long distances to visit the few doctors knowledgeable about their illnesses, and the costs involved with diagnoses, treatment and other related expenses are exorbitant. Over 6,000 different rare diseases have been identified to date, affecting the daily life of more than 30 million people in the U.S. alone. In this country, a condition is considered rare if it affects fewer than 200,000 persons combined in a particular disease group. The condition, KDVS, affecting Malcolm is almost 10 times as rare as the standard. To date, only 250 people have been diagnosed with Koolen-de Vries Syndrome. I live 1,500 miles away from my first-born grandson and his parents. Upon learning Rare Disease Day Awareness Event february 28, 11–3 p.m. university mall, Chapel Hill For more information about u.S. Rare Disease Day check out www.rarediseaseday.us about the nature of Malcolm’s condition, I immediately sensed that anything I offered to his family, in the way of long distance support would have minimal impact on their day-today life. I felt helpless and adrift. The more digging I did on the Web, the more aware I became of the struggles of all people with Tired of Waiting? Most prescriptions filled within 10 minutes. PITTSBORO DISCOUNT DRUGS 628 East St, Pittsboro • M–F: 8:30 am to 6:30 pm • Sat: 9 am to 1 pm • 542-7283 Closed Sunday • Hablamos Español • FREE DELIVERY! Call for select delivery areas. MARTIAL ART OF AIKIDO, the art of peace now offering classes for kids, teens and adults classes: $45 first month trial (all classes included) Kids (8–11): Wednesdays, 4–4:45 pm Preteens/Teens (11+): Fridays, 4–5 pm Adults: Wednesdays and Fridays, 5–6 pm Deep River Aikido is dedicated to encouraging the development of healthy and functional movement while training in the martial art of Aikido. Aikido is a unique martial art that focuses on functional development through learning to fall and roll safely with relaxation. Along with this, Aikido emphasizes standing techniques by using circular and turning motions. Physically, over time, this develops a relaxed posture, core musculature, a better sense of balance, stability and overall functional strength. Mentally, this can additionally foster a sense of overcoming conflicts in a more fluid way—working with conflicts to gain more positive outcomes. rare conditions. I felt compelled to try to “DO SOMETHING” ! I reached out to the foundation, Supporting Families with Koolen-de Vries Syndrome (501c3), which was formed to support families and fund research for KDVS. Recently, through my work on their fundraising committee, I discovered that in 2014, over 60 countries participated in a worldwide Rare Disease Day. The overall objective of this consequential day is to raise awareness amongst the general public about rare diseases and their impact on patients’ lives. There is much comfort knowing that people all over the world are advocating for more research funding, orphan drug trials and other pressing matters. Support groups such as National Organization for Rare Diseases (NORD) have worked aggressively in the past to draw attention to people with rare diseases, with a focus on the lack of treatment options. Still, momentum must be built along many fronts even as new web-based support groups continue to proliferate. Patients and families cannot do this critical public health advocacy alone. All of us know someone with a Rare Disease. The objective of our first annual Rare when you’re ready to talk FREsh poultry, lamb, turkey, pork, beef seafood & sausages TALK To CLIFF think globally Shop loc a lly ! Visit Us At Cole Park Plaza We want to make insurance as easy as possible for you. So now you have two locations to choose from. Stop in and chat — you’ll soon see why your neighbors choose to do business with Pam and her team. 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