Rare Disease Awareness Day - February 29

Abby.Morris.RettMost people have never heard of Rett syndrome, but Rick and Marlene Morris of Clinton, SC are experts. Their 41/2 year old daughter, Abby, was diagnosed with this rare genetic disorder two years ago. "Abby was not developing as we knew she should," explained Marlene who became worried about her daughter's development at 12 months of age. Abby was evaluated by specialists and began early intervention therapy, but it took another 14 months and the expertise of Greenwood Genetic Center (GGC) Director, Dr. Steve Skinner for the family to receive the correct diagnosis of Rett syndrome.

Rett syndrome is a genetic developmental disorder affecting approximately 1 of every 20,000 females. Girls with Rett syndrome develop normally for the first months of life followed by a regression of development, seizures, severe language deficits and intellectual disability. It is often first misdiagnosed as autism or cerebral palsy.

GGC is one of four centers in the US participating in the Rett Syndrome Natural History Study funded by the National Institutes of Health. The study aims to better understand the clinical course of the disorder with the ultimate goal of finding effective treatments. Dr. Skinner as well as GGC clinic coordinator, Fran Annese, and genetic counselor, Lauren McNair, constitute GGC's 'Rett Team.' They follow patients with Rett syndrome at GGC and travel several times a year to Rett syndrome clinics in NJ, FL, CA and IL to evaluate patients across the country for the study.

Abby is enrolled in the natural history study at GGC. "It has been extremely helpful to have an expert like Dr. Skinner nearby," shared Marlene. "He has taken the time to discuss Rett syndrome with Abby's other doctors. We would not know where to begin to understand Abby and her condition if it were not for him."

February 29th, the rarest date on the calendar, is fittingly the day set aside raise awareness about rare disorders, like Rett syndrome. Rare disorders, 80% of which have a genetic component, are those which affect fewer than 200,000 Americans. However, collectively, such disorders are common with 1 in 10 Americans affected by one of 7,000 rare diseases.

Patients with a rare disorder and their families experience unique frustrations in obtaining a correct diagnosis, limited treatment options, finding physicians with experience and knowledge about their disorder and feelings of isolation.

The Greenwood Genetic Center (GGC) encourages awareness of the impact of rare disorders and supports families impacted by these disorders through their clinical services, diagnostic lab testing, research and educational efforts. GGC is currently involved with three natural history studies (Rett syndrome, Angelman syndrome and Mucolipidosis) and two clinical treatment trials (Angelman syndrome and Fragile X syndrome). For more information contact GGC at 1-888-442-4363 or visit www.ggc.org.

About Rare Disease Day

February 29, 2012 is the 5th International Rare Disease Day. All over the world, rare disease patient organizations and their partners will join forces to promote awareness about rare diseases and the millions of people affected by them. The theme of this year's day is 'Rare but Strong Together'. For more information visit www.rarediseaseday.org

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