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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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.

Find the Other 150
February 1, 2010

            The Progeria Research Foundation began the ‘Find the Other 150’ Campaign three months ago.  The idea of the campaign is that there are statistically one hundred and fifty other children in the world with Progeria who are either undiagnosed or unknown by the organization.  In just these three months there have been three children identified; two are from Brazil and one is from Turkey.  PRF has set up a separate website to get the word out about this campaign.  Press releases about Progeria are being released in six languages across the world. 

          Once families are in contact with PRF, they can more fully understand Progeria and have access to the medical facilities they need as well as a network of families who know what one another is going through.  A clinical drug trial began in May, 2007 at Boston Children’s Hospital.  In just ten years, the Progeria Research Foundation has discovered the cause of Progeria and is working on treatment. This video introduces you to the children involved in the trial:

Dr. Leslie Gordon is the Medical Director of the Progeria Research Foundation.  She says the campaign is necessary to find children with Progeria:

As a parent of a child with Progeria, I don’t want other parents to feel helpless in diagnosing and treating their child. The “Find the Other 150” Campaign will allow PRF to provide these children with life-changing treatments and connect them with local medical professionals and other families of children with Progeria.

            The symptoms of Progeria include osteoporosis, growth failure, loss of body fat and hair, joint stiffness, cardiovascular disease and stroke (ProgeriaResearch.Org).  If you know a child with symptoms of Progeria, you can contact Audrey Gordon, President of the Progeria Research Foundation, at agordon@progeriaresearch.org.

Image from FindtheOther150.org

 

Inspiration
January 25, 2010

       I was introduced to the Progeria Research Foundation when I was in middle school.  The foundation had an office next to my dad’s where I would sometimes go after school. 

       One of my first memorable volunteering experiences was for the Progeria Research Foundation.  I spent a day of my break with two friends stuffing hundreds of envelopes.  I felt very accomplished after this experience and continued to volunteer at different events sponsored by the foundation.  My two friends and I even appeared in PRF’s newsletter in a picture taken from that day of volunteering.  PRF holds a bi-annual benefit for research that I have also volunteered for.

       Since the foundation is located in my hometown, it has been difficult to volunteer since I’m living at school in Connecticut.  However, I still try to educate others about Progeria when I get the chance. 

       TLC recently aired “6 Going on 60” which documented the lives of two girls, Kaylee and Lindsay, living with Progeria.  The moving documentary displayed the struggles and triumphs of their parents and families as their daughters try to live normal lives.  I watched with several of my roommates. They were moved and curious to find out what I knew about Progeria.  This made me realize that I can do my part to educate others and spread awareness for Progeria.