Magazine article The Exceptional Parent

Children's R.a.R.E. Disease Network

Magazine article The Exceptional Parent

Children's R.a.R.E. Disease Network

Article excerpt

Nicole Boice saw firsthand the anguish her friend Kelly went through after giving birth to a son with a rare genetic disorder. Born with involuntary eye movements, extra digits on his hands and feet, a hooked arm and clubfoot, clenched fists, low muscle tone and contractures in his fingers, the child couldn't breast feed, digest food or cough up phlegm, and he suffered several bouts of bronchitis and pneumonia. After two and a half years, doctors finally diagnosed the baby with Joubert syndrome, a condition also characterized by an underdeveloped or missing portion of the brain that controls balance and coordination. Boice was so moved by Kelly's feelings of helplessness, isolation and frustration that in September 2008, she launched the Children's Rare Disease Network (CRDN) to boost public awareness and connect the millions of impacted families and caregivers.

Boice knew that, by working together, the families of children affected by Angelman syndrome, Fragile X and other disorders could do more than they could alone. By definition, a rare disease impacts fewer than 200,000 people, which not only makes it difficult to diagnose and treat, but can also create a financial hardship for families seeking solutions. Collectively, however, more than 25 million people in the U.S. are born with 6,000 identified rare diseases. And they all need the same thing: a doctor who understands their child's illness, the ability to afford medical care, information about scientific developments, and resources to help them cope with physical and social issues.

"Rare disease needs a voice, a champion that will tell the world that we can no longer look past these families and their children, our friends, relatives and neighbors and ignore their needs," Boice wrote on the California-based organization's website. "There has been little attention paid towards rare diseases as a whole because the families affected by them are focused on their individual issues. As a result the efforts today are segmented. We intend to change that."

To accomplish this, CRDN serves as an online home to link families, organizations, physicians and researchers. Blogs, podcasts and social networking venues help parents find each other, access the information they need and share common problems. They can also post videos, success stories and photos; learn how to advocate for their children; and better understand specific diseases through comprehensive databases. An online SOLVE Toolkit shows parents what steps to take to reach a diagnosis. …

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