Did you know that one in 20 people will live with a rare disease at some point in their life? 29 February 2020 marked the 13th international Rare Disease Day – learn more with MPS Austria.
Hundreds of patient organisations from countries and regions across the globe mark 29 February 2020 with the main objective of raising awareness amongst the general public and decision makers about rare diseases and their impact on patients’ lives. Here, Health Europa introduces our incredible partners: the Austrian MPS Society (MPS Austria) who work tirelessly to highlight the importance of research and improving the quality of life for those living with a rare disease.
MPS Austria have a mission, and that is to put a spotlight on the rare disease MPS (mucopolysaccharidoses) and make everyday life easier for children and families living with MPS.
The world of MPS Austria
MPS is a fatal metabolic disease which occurs in children of healthy parents. It is triggered by a genetic defect that leads to disorders in the function of protein substances (enzymes). Due to this enzyme defect, certain metabolic products (the mucopolysaccharide) are not broken down but stored in body cells. The ‘metabolic waste’ accumulates and destroys these cells, which leads to severe physical and / or mental disabilities.
Because 11 different enzymes are affected, the term MPS encompasses very different clinical pictures. The symptoms range from changes in the bones to impaired functions of internal organs such as the heart, liver and spleen, to severe disorders of brain function. Some children go blind, most hearing impaired.
The average life expectancy of an untreated MPS child is 15 years.
MPS Austria championing self-help support and research for therapy
Discover the partner page of MPS Austria and learn more about the origins of the society, and how they are helping to improve the quality of life for children living with MPS.
Check out the Partner Page of MPS Austria here.
Let’s delve into all things MPS
What are mucopolysaccharide storage diseases? What are their signs and symptoms? And what treatment options are available? Check out the intriguing e-book brought to you by MPS Austria exploring this further.
Everything you need to know about the annual MPS therapy week
You know about Rare Disease Day, but what do you know about the annual MPS therapy week? Therapy week will take place from 18-25 July 2020, but in the meantime learn more about last years MPS therapy week in this special report.
Donate to the Austrian MPS Society today!
MPS Austria have the vision that one day MPS will be curable. Your donation could boost research and provide families with the support they need. Every donation makes all the difference! Donate here to make your contribution.