Rare Disease Day – February 28

Rare Disease Day – February 28
February 24, 2015 Our Circle of Moms

By: Sue Anganes 

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On the last day of February millions of people around the world will be celebrating Rare Disease Day, including my family. In more than 80 countries there will be events taking place to focus attention on rare diseases as a public health issue.

There is a good chance that we all know at least one person who has been diagnosed with a rare disease.  In our country, 1 in 10 people have a rare disease.  Families often have trouble getting access to life-saving medical treatment or other services because elected, insurance, medical, and other officials may not be familiar with their diseases.  In our case, the developing drug company denied my boys a trial of a medication because it was not developed for their specific disease. It is considered “off label use” and is therefore not even available for them to try. Despite the fact that the drug has a very good chance of helping them, we are denied access because of FDA and other regulations involving orphan drugs. Hopefully, through legislation and by other means we can fight for more access to life saving drugs for those with rare diseases.

In the U.S., a disease is considered rare if it affects fewer than 200,000 people.  My boys are so very rare that we don’t know of anyone else in the country with the same disease. Medical research does not often happen for rare diseases because there usually aren’t enough individuals to participate in medical trials. Advances are being made daily in genetic testing and more people affected with a rare diseases are finding others with the same conditions. Hopefully that will help contribute to a greater pool of research participants.

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Our family does not lose hope even though my boys are very rare and at this point we have no treatment for their neurometabolic disease. We traveled with them on two separate weeks to Bethesda, MD, to the National Institutes of Health in late 2013. They were enrolled in the Undiagnosed Diseases Program and went through a year’s worth of testing in the first week they were there. We traveled back to the NIH for another week a month later for a trial of medication which unfortunately did not help them. At this point, knowing that the boys are enrolled in a medical study with the top specialists on earth trying to figure out a diagnosis and a treatment is our greatest hope. We are waiting for results from exome sequencing (genetic testing) of our whole family (six kids and my husband and me) hoping it will give us an exact genetic answer to the disease. We are not giving up!

Raising public awareness truly makes a difference.  It gives my family hope and can lead to new, life-saving treatments.  One of the ways I’m going to participate in Rare Disease Day is to wear “Jeans for Genes” on February 28.  Maybe you can think to support rare disease by putting on your “Jeans for Genes” on February 28, too!

#RDD2015  #RareDiseaseDay

 

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Comment (1)

  1. Sue Anganes 7 years ago

    Here’s a link to the Undiagnosed Diseases Program at the NIH.
    http://www.genome.gov/27544402
    The program has now been expanded to other locations around the country making it easier for families to access the program. Boston is now participating with the NIH at Harvard Medical School.
    https://www.genome.gov/27557990

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