PBS Segment To Highlight The Highs And Lows Of Rare Disease

(UNDATED) – There are currently 7,000 different types of rare diseases and disorders, Cornelia de Lange Syndrome (CdLS) is one of them.


The CdLS Foundation has the unique opportunity to tell the short inspirational story of this little known rare syndrome to a national audience. The Public Broadcasting System (PBS) will feature the syndrome on its program Spotlight On. Spotlight On has been airing for over 25 years. Each program is a short video that runs in between the main programs on National Public Television and is educational interest to the public.
There are 30 million people in the United States living with a rare disease. Awareness is critical for so many reasons; chief among them is the need for children to be diagnosed as early as possible so they can receive the most appropriate treatment and care, ultimately improving quality of life. The medical community is key to providing this early diagnosis, and unfortunately, many professionals are in the dark when it comes to diagnosing and caring for their patients with CdLS and other rare disorders.
The program will begin airing nationally on February 28 – Rare disease day – the rarest day of the year. The Foundation hopes to increase awareness of CdLS and all others living with rare disease among the 3 million plus viewers expected to see the program.
About Cornelia de Lange Syndrome
An estimated 30,000 people in the U.S. have CdLS but remain undiagnosed and/or without support services. Individuals with CdLS range from mildly to severely affected, though most have similar physical characteristics including small size, hands and feet; thin eyebrows that meet in the middle; long eyelashes; upturned nose; and thin, downturned lips. Some individuals have limb differences, including missing fingers or arms. Common medical problems include GERD, bowel obstruction, and congenital heart defects.
About the Foundation
Founded in 1981, the Cornelia de Lange Syndrome Foundation is a family support organization that exists to ensure early and accurate diagnosis of CdLS, promote research into the causes and manifestations of the syndrome, and help people with a diagnosis of CdLS and their families make informed decisions throughout their lifetime. https://www.cdlsusa.org/.

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