Rare Disease Day

Dup15q Syndrome is 1 of 7,000 Rare Diseases.

February 28, 2022 is the designated “Rare Disease Awareness Day” across the world.

1 in 20 people will be diagnosed with a rare disease at some point in their life. Despite this, there is no cure for the majority and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision-makers to address the needs of those living with rare diseases.

• 300 million people living with a rare disease worldwide

• 72% of rare diseases are genetic

• 70% of those genetic rare diseases start in childhood

Together, we aim to raise awareness through education for our community, researchers, clinicians, and policymakers to bring equitable access to diagnosis, treatment, health, and social care as we work towards a more inclusive society.

Equity in practice means meeting peoples’ specific needs and eliminating barriers preventing their full participation in society, social opportunities, equitable access to health and social care, diagnosis, and treatments.

Why does Dup15q Syndrome fall under the definition of a “disease?” A disease is defined as a disorder of structure or function in a human that impairs normal functioning, manifested by distinguishing signs and symptoms. That sounds scary but it just means that people living with Dup15q Syndrome have a condition that impairs functioning.

Why is Dup15q called a “syndrome?” A syndrome is a term that refers to a disease or a disorder that has more than one identifying feature or symptom.

Dup15q Syndrome is characterized by having an extra copy of a portion of chromosome 15 in the 11.2 – 13.1 region in combination with a number of symptoms that may include, hypotonia, epilepsy, cognitive delay, motor delays, autism, and similar facial features.

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