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28 February – Rare Disease Day

www.rarediseaseday.org

Rare Disease Day is observed every year on the 28th of February (or 29th in leap years, the rarest day of the year). The Day was set up and is coordinated by EURORDIS and 65+ national alliance patient organisation partners, to provide an energy and focal point that enables rare diseases advocacy work to progress on local, national and international levels. Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity (just and fair inclusion) in social opportunity, healthcare, and access to diagnosis and therapies for those who are living with a rare disease.

A disease is considered “rare” when it affects fewer than 1 in 2000 people.

There are more than 7,000 rare diseases, of which approximately 95% have no treatment.

Rare diseases are present across the medical spectrum. Some are widely recognized by name, such as cystic fibrosis, while others are less known, such as cat eye syndrome. Most cancers (all but a few types) are rare. There are rare neurological and neuromuscular diseases, metabolic diseases, chromosomal disorders, skin diseases, bone and skeletal disorders, and rare diseases affecting the heart, blood, lungs, kidneys, and other body organs and systems.

Some of the problems people with rare diseases experience:
• Difficulty in obtaining an accurate diagnosis (this can take years, which can be critical for stopping or halting the progression of a disease),
• Limited treatment options,
• Little or no research being done on the disease,
• Difficulty finding physicians or treatment centers with experience for a particular disease,
• Paying for treatments that are generally more expensive than those for common diseases,
• Reimbursement issues related to private insurance, Medicare, and Medicaid,
• Difficulty accessing medical, social, or financial services or assistance because those making the decisions are not familiar with the disease,
• Feelings of isolation and of having been abandoned or “orphaned” by the health care system.

Rare Disease Day raises awareness for the 300 million people currently living with rare disease around the world who require immediate and urgent attention, and their families and carers.

Visit the official Rare Disease Day website to learn more and to see events happening near you.

Sources: www.rarediseaseday.org. ; Rare Disease Day FAQ 2019.


Rare Disease Awareness Bracelet

The Rare Disease Awareness Bracelet consist of pink, blue and green wooden beads with silver and diamante fillers. Includes a diamante Awareness Ribbon charm.

Raising SMA Awareness with Kerry Walsh

“My name is Kerry Walsh, I was born on the 22nd of October 1997 in a set of fraternal twins. Around the age of one, my parents had realized that I wasn’t developing like my sister was. I was taken to the doctor where I was diagnosed with low muscle tone. We tried months of physical therapy but unfortunately, there was no improvement. I was then sent for a muscle biopsy in my neck. They discovered that I had SMA (Spinal Muscular Atrophy). I was given the life expectancy of 5 years old. My parents were told to take me home and enjoy the time we had…”

Kerry Walsh

“Life is a beautiful gift and it’s our responsibility to live it to the full, that is what I plan on doing!” – Kerry Walsh

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