Rare Disease Day is an international event held on the last day of February each year. The goals are to raise awareness about rare diseases and improve access to treatments and medical representation for individuals with rare and genetic diseases.
In the United States, more than 7,000 rare diseases affect 30 million people, about two thirds of whom are children. In fact, rare diseases are more common than AIDs and cancer combined. However, there are only fewer than 500 approved treatments.
Rare Disease Day helps to bring widespread recognition of the challenges faced by people with rare diseases such as spending years seeking a diagnosis, addressing medical problems and symptoms, and experiencing feelings of isolation.
Connexion Healthcare is a communications partner that understands the nuances and complexities of rare diseases. Our goals are to broaden the understanding of these natural diseases, while ensuring access to innovative therapies for an underserved patient population. At Connexion, we are deeply committed to the rare disease community and are passionate about improving healthcare for this very special patient population.
About 80 percent of rare diseases are caused by faulty genes, and everyone at Connexion participated in Rare Disease Day by supporting the Wear That You CareTM denim awareness campaign by wearing bluejeans. (For more information, visit https://www.connexionhealthcare.com and https://globalgenes.org/.)
On February 28, Rare Disease Day, Connexion Healthcare provided a free luncheon for employees. The guest speaker was Lisa Clarke of New Jersey, the mom of Charlie, who has cystic fibrosis, or CF. Connexion staffers wore decorated jeans, creations of their own, and also relayed the significance of the decorations in regard to how rare diseases have had an impact on their family members.
Charlie’s story began with a cough when he was six years old. Lisa spent six months taking Charlie from doctor to doctor in attempts to find out what was wrong. One day after watching a TV segment about a patient with CF, who happened to be coughing, Lisa decided she wanted Charlie tested for CF. Only 30,000 people in the United States have CF, and Charlie’s doctors did not want to test for the disease. Lisa insisted, partly just to rule out CF.
As it turned out, Charlie did have CF because both Lisa and her husband are carriers of a CF gene. Lisa has a rare CF gene that is not detected in current screening, and her husband has one of the typical CF genes. As a result, most members of their families have had genetic testing for CF.
Charlie’s disease is managed by a regimen of nebulized medicines, inhalers, and pills to keep his airways open, thin the abnormally thick mucus, and keep lung infections at bay. Under the care of physicians who specialize in CF, Charlie leads a full, high-quality life.
Today, Charlie is an athlete and is preparing for college. He is expected to live an independent life, with a much longer expected lifespan than people with CF had previously, thanks to research and aggressive treatment.
Over the last 10 years since Charlie’s diagnosis, Lisa has been a tireless supporter of and fundraiser for the Cystic Fibrosis Foundation. She has raised $1.5 million for research, education, and awareness. One venue is “Charlie’s Night,” which is being held on Saturday, September 20, 2014, in association with the Delaware Valley Chapter of the Cystic Fibrosis Foundation.
At the conclusion of the luncheon, Connexion Healthcare, through its charitable arm, Connexion Cares, donated $500 to Charlie’s Fight.
How Can You Help Spread the Word?
1. Go to https://rarediseaseday.us/raise-your-hand/ to “Raise Your Hand,” and the pharmaceutical company Lundbeck will make a $1.00 donation to support rare disease research (up to $10,000). Click on any of the share buttons on the left side of the page, or copy and paste the code onto your blog or Website. You can also copy and paste a snippet of code onto your Website or blog.
2. Give @rarediseaseday a Tweet, or use #RareDisease
3. Watch, share, or embed the official Rare Disease video in your Website or blog:
4. “Raise and Join Hands” to show the solidarity of your group, no matter how big or small, with patients who have rare diseases worldwide; take a photo and upload here (specify the group and location): https://www.rarediseaseday.org/join-your-hands.