The Power of Rare Disease Awareness

Rare Disease Day

Three Reasons Why It’s Important

Chances are, you or someone you know – a family member, friend, colleague, or classmate – is living with one of the more than 7,000 identified rare diseases. Although the incidence of each disease is rare, as a group they are collectively common. According to the World Health Organization, approximately 1 in every 15-20 people worldwide is affected by a rare disease.

For decades, little progress was made to advance research, advocacy, and treatment for rare disease patients. The passing of Orphan Drug Act of 1983 did much to change that, spurring research and development for hundreds of therapies to treat rare conditions. Yet still today, only 5% of rare diseases have an approved treatment option for patients.

Rare Disease Day celebrates how far the rare disease community has come and encourages us to continue building momentum for the future. Here are just a few of the many reasons why raising awareness for rare disease matters.

Reason #1: Awareness helps save children’s lives

50 percent of rare diseases affect childrenImagine you are a parent of a baby who is growing and developing at a typical pace, then one day you notice your child is getting weaker, not stronger. They are not hitting milestones at expected times. You know something is not right but have no idea what or why.

Imagine you are that child’s doctor. You run every test available, send the child to every appropriate specialist, do everything to find answers so you will know how to best treat this child and get them back on the path to optimum health and development. Yet, diagnosis is elusive.

Symptoms of rare diseases, including those of lysosomal storage disorders, tend to remain hidden until the disease has significantly progressed. The low numbers of people with each disease and the variety of symptoms expressed within the same condition makes them difficult to clinically identity.

According to EURORDIS Rare Diseases Europe, over 50% of rare diseases affect children, 30% of whom will not see their fifth birthday.

Reason #2: Early detection equals early intervention

The sooner treatment begins, the better the outcome. Treatment generally cannot reverse damage that occurs while families search for a clinical diagnosis. Permanent damage to the body can begin at any time, often within the first days or months after birth.

Without diagnosis, children and their families enter the diagnostic odyssey, a years-long journey through multiple specialists and ineffective treatments.

Early diagnosis can lead to life-saving therapies and significantly improve the quality of life of a child and their family.

Reason #3: The work done today prepares future generations

Awareness brings rare conditions to the attention of people who can make a positive impact in the lives of those affected by these diseases. Knowledge and understanding of rare diseases encourage research participation and lead to innovations in detection, treatment and care.

Awareness is not for my children, its for all children going forwardThe parent of a child diagnosed later in life with Mucopolysaccharidosis (MPS) II put it perfectly, “Awareness is not for my child, it’s for all children going forward.”

New therapies are developed, and existing medicines repurposed, to stop damage to the body. Advancements in gene therapy for treating rare disease advances the science as a whole and can lead to treatments for other types of conditions.

Innovative screening and testing techniques improve accuracy and speed of results so patients can receive immediate therapies. Increasing awareness leads to development of tests for more conditions and better accessibility to these technologies.

Health care providers’ ability to recognize symptoms, progression, and impact of different rare diseases equips them with the tools to accurately diagnose and deliver optimum care.

Better understanding within communities promotes inclusion, support, and other positive outcomes for patients, families, and our greater public health. Children grow up to lead independent lives and communities can better adapt to capabilities and needs.

Continue to Shine a Light on Rare Disease

When rare diseases cease to be shrouded in a fog of mystery, health equity increases as more locations worldwide can implement tests, fund research, and access therapies.

Please share information about Rare Diseases and help us bring healthy starts to everyone, everywhere.

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NIH Facts About Rare Diseases


Published February 28, 2022