Rare Disease Poll
April 12, 2010

            Imagine finding out you or a loved one has a life-threatening disease or condition.  Then, finding out that the disease is so rare, there is little to no information, research, studies, or treatment.  That is, of course, assuming the disease was even common enough to be diagnosed.  This is a reality for one in ten Americans.  And while apart, these rare diseases may affect smaller groups of people, together there are 30 million people affected by rare diseases. 

            In a survey asking how important people thought it is to research rare diseases in comparison to more widespread diseases, the results were:

            Less important 16%

            Equally as important 70%

            More important 12%

            Not sure 2%

           

     75% of respondents were women, and 25% were male.

            Jim Gibbons, the governor of Nevada issued an executive proclamation on February 8, 2010 declaring February 28, 2010 as Rare Disease Awareness Day.  By receiving attention at all levels, rare diseases are coming to the forefront of the minds of Americans.  In his proclamation, the Governor wrote:

“Whereas  diseases such as ‘Lou Gehrig’s disease’ are well known, while others, such as ‘Erdherim-Chester Disease’ remain unfamiliar to the public, so that, affected citizens have a large burden while raising research funds; and whereas nearly one in ten Americans have rare diseases, therefore, thousands of Nevada residents are affected; and  whereas the National Organization for Rare Disorders, patients, medical professionals, researchers, government officials, companies in support of treatment development and citizens are bringing such rare diseases into focus for the public in order to bring awareness to the State of Nevada concerning this public health issue.” 

            The National Institute of Health estimates there are approximately 6,800 rare diseases.  Of those, 75% affect children.  Since so many rare diseases have ties to more common diseases and conditions, research for even those that are the most rare of these diseases is crucial, and can be the key to ensuring fulfilling lives for millions from the discovery of treatment or a cure for one rare disease.  That over 80% of people surveyed believe that rare disease research deserves equal or more importance proves that awareness for rare diseases is prevalent and affects many people in some way.

More on awareness:

            The movie, Extraordinary Measures, focuses on a family whose two children have life-threatening diseases.  The movie was released in January, 2010 and was based on the true story of Aileen and John Crowley whose children had Pompe’s disease.  The film shows the parents’ willingness to do anything to save their children, including financing and ensuring research for treatments.  The trailer for the movie is below:

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Children Diagnosed with Progeria in the World
April 5, 2010

There are currently 64 known children living with Progeria in the entire world.  Below is a map that allows you to move from country to country and by clicking on the blue placemarkers, you can view how many children are diagnosed with Progeria in that country.

The ‘Find the Other 150’ Campaign is an effort by the Progeria Research Foundation to find the, statistically, other 150 children living with Progeria in the world.

PRF President and Executive Director Audrey Gordon
February 16, 2010

     Audrey Gordon is the President and Executive Director of the Progeria Research Foundation.   Audrey was named one of the 2004 North of Boston Business and Professional Women of the Year.  She is the front runner of countless efforts to fulfill PRF’s mission of finding a treatment and cure for Progeria. I asked Audrey where she got the inspiration to start the foundation:

Progeria Research Foundation Inspiration – Watch more Videos at Vodpod.

Purpose
January 25, 2010

        Hutchinson-Gilford Progeria Syndrome, or Progeria, is a rare, genetic condition that appears in children as the effects of accelerated aging. Progeria is caused by a mutation of the gene LMNA.  Prior to April, 2003, the cause of Progeria was unknown. Children with Progeria die at an average age of thirteen to heart disease.  Progeria was first described in the late 1800’s by Dr. Jonathan Hutchinson and Dr. Hastings Gilford.

       A cure for any ailment can only come about through extensive efforts and studies.  Funding for these studies is extremely costly.  For this reason, education is key to finding a cure for these children.  A cure for Progeria will likely also help millions of adults who suffer from heart disease and stroke as part of a natural aging process. 

       The Progeria Research Foundation is located in Peabody, MA.  They have now located 54 children in 30 countries living with Progeria.   However, researchers believe there are statistically another 150 children living undiagnosed, or not identified by the Foundation, with Progeria in the world.  I have seen their volunteers work first hand at raising money and spending their time working to raise money to cure Progeria.