May 15th is Mucopolysaccharidosis (MPS) Awareness Day: Spreading Rare Disease Awareness

May 15th is recognized each year as Mucopolysaccharidosis (MPS) Awareness Day. The goal of this day is to help spread awareness about this group of diseases among the general public and in the medical community. This group of genetic disorders can have severe life-limiting impacts that affect every system and organ in the body. As most forms lack any sort of effective, disease-modifying treatment, there is a dire need for spreading awareness in order to improve the lives of patients. 

About Mucopolysaccharidosis

Mucopolysaccharidosis (MPS) comprises a total of seven distinct genetic disorders, which can be further divided into different variants. These disorders are characterized by the absence of a critical lysosomal enzyme that is necessary to facilitate the break down of certain long chain molecules called glycosaminoglycans (GAGs). Generally, patients either do not produce a sufficient concentration of the enzyme or they produced a flawed version that does not function properly. The different forms of mucopolysaccharidosis are defined by which enzyme is affected. These disorders are all the result of inherited mutations that are usually passed down in an autosomal recessive manner. These disorders can vary in severity but in many cases they can be debilitating and sometimes fatal. Symptoms can result in profound impacts on many of the body’s systems and internal organs. Treatments for these disorders (when available) may include stem cell transplant or enzyme replacement therapy. Gene therapies could be a potential future treatment for these disorders. To learn more about mucopolysaccharidosis, click here.

Get Involved

A number of patient organizations, such as the National MPS Society and Project Alive, are encouraging people to share about MPS disorders on social media. You can also post a picture of yourself wearing purple, the color used for MPS awareness. Patients and their families are encouraged to share their stories on Twitter, Facebook, Instagram or other platforms using the hashtags #chasethesigns, #MPSAwarenessDay, and #MPSDay2020. 

While unfortunately the ongoing COVID-19 pandemic means that in-person events for MPS Awareness Day aren’t going to be happening this year, another great way to show your support is to donate to relevant patient organizations. 

To donate to Project Alive’s MPS Awareness Day Fundraiser, click here.

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