Did you know 1 in 10 people in America have a Rare Disease? That means 30 million Americans have a rare disease.
February 29th is the rarest day of the year and appropriately marks Rare Disease Day worldwide. Events sponsored by NORD, the National Organization for Rare Disorders, are held throughout the world. These events target legislators, legislative staff, the public and the media in an effort to raise awareness of the needs of the rare disease community. It is vital to educate our state legislators about the many challenges that the rare disease community faces because many important decisions related to rare diseases are made at the state level.
An event was held at the Connecticut State House on February 25th. There were a variety of speakers present, including people with rare diseases, legislators, researchers, and advocates.
People affected by rare diseases and parents of children with rare diseases spoke about their experiences. Some had the audience close their eyes while they described what it is like to live with a life-long chronic illness. Eloise Stager spoke about her own condition, Ehlers-Danlos syndrome (EDS), a syndrome that affects the connective tissue. Connective tissue makes up 80% of the body, and therefore EDS leads to many issues throughout the body. She shared how hard it is to live with constant pain everyday and to see her daughter experience the same. Her daughter, Jackie, also spoke about not being able to dance, one of her favorite hobbies, because of the pain. She has started an organization, JaxLegacy, to raise awareness for EDS.
Another mother, Michelle Cotton, shared her son’s diagnosis of a rare disorder found on newborn screening, and that initially doctors did not explain the disease and left her and her husband in the dark. A father, Denis Mackey, expressed how he could not afford the hundred of thousands of dollars it costs to buy his son’s hemophilia medication. To make the medication last longer they would skip doses. A high school-aged girl, Maddie Shaw, shared what it’s like to live with Primary Immune Deficiency Disorder and the great expense of her treatments. Maddie expressed that she wants to go to college, but may not be able to because of how much her family is spending on her treatments. She is an role model in activism starting her own organization, Maddie’s Herd at 13 years old.
Although these stories are heartbreaking, the air was charged with a spark of hope. Recently HB697 passed which created a Connecticut Rare Disease Task Force. To have legislators hear people’s personal stories of struggle with medical bills and a lack of treatments was promising for further legislative support. Legislators were also educated by scientists to see the advancements already being made.
Senator Richard Blumenthal couldn’t attend the event in person, but he recorded this urgent message of how vital research is for rare diseases.
The Executive Director of the Fibrolamellar Cancer Foundation, John Hopper, asked the audience to consider four important points: to know diseases, to support any legislation for current research, to encourage young researchers, and to work with industry to get repurposed drugs, orphan drugs and new drugs for rare diseases. When researching one rare disease often scientists end up discovering findings that can positively impact another rare disease.
Dr. Marc Lalande, the Director of the Stem Cell Institute, added on to these points by educating the audience on the advancements UConn Health has made in the area of regenerative medicine. UConn has successfully taken skin cells, transformed those cells into stem cells that then have the potential to be developed into any type of cell, such as a heart cell, for example.
The celebration continues tomorrow, March 1st, 2016, with NORD and ABC News for a tweetchat at 1:00-2:00pm EST. Learn how you can join in on the nationwide discussion of rare diseases using #abcDRBchat.
Check out the official Rare Disease Day 2016 video:
Photo: 2007 Jina Lee