Rare but Strong Together

Happy February 29th!  A rare day that comes only once every 4 years. Talking about rare – today is also Rare Disease Day.

In the US, a rare disease is defined as one that affects fewer than 200,000 people.  However, as it turns out rare diseases are actually not all that rare.  In fact there are nearly 7,000 rare diseases affecting almost 30 million Americans. In other words, as many as one in ten Americans are suffering from a rare disease.

Most of my life, I have been involved in some capacity with rare diseases, some of them very rare indeed. While working in the field of transfusion medicine, I became something of an expert in factor II deficiency. This is is an inherited bleeding disorder caused by reduced activity of factor II (prothrombin). Characterized by muco-cutaneous bleeding symptoms, less than 50 people worldwide have been diagnosed.

My work has also brought me into contact with the patients and families affected by a number of rare primary immune deficiency diseases. Most notably among these – ataxia telangiectasia (A-T).  A-T is a progressive degenerative disease marked by ataxia (a lack of muscle control that results in wobbliness and slurred speech); telangiectasia (tiny red spider veins which appear in the eyes, ears or cheeks); immunodeficiencies (low levels of antibodies resulting in increased susceptibility to infections) and a predisposition to cancers such as lymphoma and leukemia.   A-T is thought to affect less than 100 families in the US, and I have been fortunate and humbled to meet most of them. The pictures of some of these children sit on my desk and serve as a daily reminder of why I do what I do. Their daily challenges remind me how inconsequential are my own.

More recently, my EMS work brought me into contact with Hunter syndrome (mucopolysaccharidosis type II). Hunter syndrome is an inherited disease in which the patient lacks an enzyme  (iduronate sulfatase) to break down complex sugar molecules (mucopolysaccharides). As such, sugars accumulate in various body tissues causing severe mental retardation, spasticity, enlarged organs, cardiac defects and deafness. Less than 2,000 people are affected worldwide, fewer than 500 of them in the United States.

Besides dealing with their specific medical problems, people with rare diseases often struggle to get a proper diagnosis and treatment.  Rare Disease Day is about increasing the recognition of rare diseases as a global health challenge and raising awareness of the common challenges and experiences faced by rare disease patients and families.

Rare Disease Day was first observed in Europe in 2008. In 2011, over 60 countries participated and it is hoped that even more will do so this year.

For 2012, the focus of rare disease day is solidarity and the official slogan is “Rare but Strong Together”.  The main aims include:

  • Extensive media coverage
  • Social networking blitz
  • Creating a Rare Disease Physician Database
  • Encouraging patients to share their stories, videos, photos, and blogs including to their local media and through social media
  • Joining hands with others worldwide
  • A three day advocacy and awareness event in Washington, DC at the FDA, NIH and on the Hill
  • Support in-school initiatives in high school biology classes and middle and elementary school classes to implement grade appropriate lesson plans for rare diseases
  • Create tool kits that can help individuals and organizations plan and implement events and awareness activities focused on rare disease day
  • Establishing online photo galleries for the “Handprints Across America” and “Visions of Solidarity” initiatives for patients to express their view of international solidarity in the rare disease community and show the support across the country for this day
  • Update a portal for a user-friendly system to send letters to Congressional Representatives so patients can teach their legislators “Rare Diseases 101”

To find out more about rare diseases and the activities going on today in your area please visit the Rare Disease Day Website.