World Rare Disease Day

Have you ever thought about what it would be like living with a rare disease?  February 28, 2018, is World Rare Disease Day, a day that calls upon policy makers and the public to consider the daily impact that living with a rare disease has on patients and their families.

An example of such a disease is Rett Syndrome (RS). RS is an incurable, genetic brain disorder diagnosed in less than 1,000 children a year, and almost exclusively affecting girls.   Affected infants seem to develop normally during the first 6 to 18 months of age, but then begin to regress as they lose language skills and develop characteristic problems with muscle coordination and lack of purposeful hand movements.  RS is characterized by repetitive hand movements, including hand washing, hand wringing, hand clapping, and hand mouthing. Over time, intellectual delay, autistic-like features, panic attacks, teeth grinding, seizures and even dysfunctional breathing become more evident.   Due to the problems involving motor and communication skills, as well as seizures, and irregular breathing, most individuals with RS require maximum assistance with every aspect of daily living.While we now know that RS is caused by a change in the gene MECP2, it is not an inherited change, but an accidental one.  MECP2 produces a protein that is vital for brain function.  When the gene is altered, either insufficient or abnormal protein is produced.   The course and severity of RS is determined by the location, type, and severity of the MECP2 gene change.There's no cure, but medications, physical and speech therapy, as well as nutritional support, help manage symptoms, prevent complications, and improve quality of life.Recently, news correspondent Richard Engle and his wife opened up and shared their 2-year-old son’s diagnosis.You can find more information about RS and testing by speaking with your physician or by visiting websites, including:ghr.nlm.nih.gov/condition/rett-syndromerarediseases.org/rare-diseases/rett-syndromeIf you have questions about RS testing at Quest Diagnostics, please call 1.866.GENE.INFO (1.866.436.3463) to speak to a genetic counselor.