Care About Rare 2018

Care About Rare 2018
February 26, 2018 Our Circle of Moms

By: Sue Anganes




Rare Disease Day takes place on the last day of February each yearThe first Rare Disease Day was celebrated in 2008, on February 29, a “rare” date that happens only once every four years. Ever since then, Rare Disease Day has taken place on the last day of February–a month known for having a “rare” number of days. The main objective of Rare Disease Day is to raise awareness among the general public and lawmakers about rare diseases and their impact on patients’ lives.

Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their lives. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed.


Walking to the Clinical Center at the NIH 2013

Once again, I am writing about Rare Disease. For the past nineteen years, my family has been affected by a rare disease. We were told the disease occurs once in every 1,500,000 people. For the first fourteen years of our journey, we were searching for a diagnosis for our two youngest sons to a very perplexing neurological disorder. We saw over fifteen specialists in various Boston hospitals without ever getting a definitive diagnosis. In 2013, we were accepted into the Undiagnosed Diseases Program at our nation’s only federally funded research hospital, the National Institutes of Health in Bethesda, MD.  After a week on intensive testing, we were sent home to wait for possible answers. One month later we received a call from the NIH with a possible answer. We flew back for another week to trial a medication. Although there were no immediate improvements with the medication, the boys have now been on it for over four years with some positive results.

As with many who have rare diseases, there are often no cures, and most of the time no treatments. We were fortunate that the doctors at the NIH were researchers and were willing to try things that other doctors may not have tried. For a whole year, we fought to obtain another medication that might possibly help the boys. We had to fight for approval through the drug manufacturer for a medication that wasn’t FDA approved for their condition. We also had to fight with our insurance company; because the medication was considered an Orphan Drug and we were not using it for its intended usage, our insurance wouldn’t pay for it. We were basically using it experimentally for the boys. After a year of petitioning and negotiating, we gained approval for use of the medication.

Having a Rare Disease connects you to a world that most people don’t navigate through; genetic testing, experimental medications, physical therapy, wheelchairs, and numerous specialists become a part of your everyday life. I’m thankful for a day to recognize the battle that those with a Rare Disease face, for those who work legislating laws to help those with Rare Disease to obtain the care and medications that keep them alive, and for those researchers in the field who dedicate their lives for treatments and cures for Rare Diseases.



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