To the Editor:
My family will be joining the National Organization for Rare Disorders (NORD) and others around the world in observing World Rare Disease Day on Feb. 28.
On this day, millions of patients and their families will share their stories to focus a spotlight on rare diseases as an important global public health concern. A rare disease is one that affects fewer than 200,000 Americans. There are nearly 7,000 such diseases affecting nearly 30 million Americans.
“There are nearly 30 million Americans — and millions more around the world—affected by rare diseases,” said Peter L. Saltonstall, president and CEO of NORD. “Everyone knows someone with a rare disease. But, while many of these diseases are serious and lifelong, most have no treatment and many are not even being studied by researchers. This leaves patients and families without hope for a better future.”
Our youngest son was born on May 28, 2008 and was soon after diagnosed with a Urea Cycle Disorder called Citrullinemia. He has been hospitalized more than 17 times since birth and relies on a feeding tube for nutrition.
His medical team is based at Johns Hopkins Hospital and he is also seen by doctors at Children’s National in Washington.
Thanks to the Orphan Drug Act and the amazing group at the National Urea Cycle Disorders Foundation, on Feb. 8, 2013, our UCD families received the amazing news that a clinical trial drug, more than 10 years in the making, was approved by the FDA for better management of Urea Cycle Disorders.
While we are personally overjoyed at the approval, many other rare disease families are still waiting on help.
On Rare Disease Day, people with rare diseases around the world promote awareness of the challenges of living with a rare disease. The global theme for 2013 is “Rare Disorders Without Borders.”
World Rare Disease Day was launched in Europe four years ago and last year was observed in more than 60 nations. It is always observed on the last day of February.
On that day, patients and patient organizations will post stories, videos and blogs online and host events to raise awareness of these diseases, which are often called “orphans.”
This year, the observance has special significance in the U.S. because 1983 is also the 30th anniversary of the Orphan Drug Act, which provides incentives to encourage companies to develop treatments for rare diseases, and of NORD, which was established by patient advocates in 1983.
I encourage your readers to visit the U.S. Rare Disease Day website (www.rarediseaseday.us) on or before Feb. 28 to read about Rare Disease Day activities in the U.S. and the global website (www.rarediseaseday.org) to learn what’s being done around the world.
Mindy Mooney and family