Rare Disease Day
February 29, 2023 is the designated “Rare Disease Awareness Day” across the world.
Did you know 95% of the 7,000 Rare Diseases —referred to as Orphan Diseases—do not have a single FDA-approved drug treatment? 72% of them are genetic.
Rare Diseases, by definition, affect a small number of patients, and they historically have not attracted significant pharmaceutical investment.
We may be RARE, but TOGETHER OUR VOICE IS LOUD!
We raise awareness on Rare Disease Day so others may better understand the challenges that come with a Rare Disease like Dup15q syndrome. For example, access to basic medical care or insurance coverage for items needed for our kids to not only live but to be safe.
We raise awareness in hopes that our voices are loud enough for funders and pharma to invest in research to create Targeted Treatments that will improve the quality of life for our loved ones.
We raise awareness so others do not have to go undiagnosed and they get Access to Genetic Testing Faster.
Today is Rare Disease Day. Individuals with Dup15q syndrome are not contagious, they just have rare genes.
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.
The Dup15q Alliance is committed to investing in research that will lead to treatments and positively change the daily lives of all impacted by Dup15q syndrome.
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