At Porterhouse Medical, we are passionate about the work we do with our partners to help improve people’s lives; which includes using our medical and scientific communications expertise to help raise awareness of disease symptoms and encourage support for relevant charities.
Monday was a not-so-blue day for our team as we supported MPS Awareness Day with a ‘wear it blue’ campaign, and a delicious cookie and cake sale in the office.
MPS Awareness Day is an internationally recognised awareness day for MPS disease to encourage people to think about those affected by these rare genetic diseases, remember lives that have been lost and celebrate advances in research and treatments that are now available and those yet to come.
A bit about these devastating genetic rare diseases
Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage diseases (LSD) caused by the body’s inability to produce specific enzymes. Individuals with MPS and related diseases, are missing or have insufficient enzyme which prevents the proper recycling process in cells; resulting in the storage of materials in virtually every cell of the body.
As a result, cells do not perform properly and may cause progressive damage in the body’s organs, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulIation of cell materials.
Shockingly, In the UK 1 baby is diagnosed with MPS every 8 days and there is currently no cure, only treatment for the symptoms as they arise. However research is making great strides – carrier detection, the development of replacement enzymes, bone marrow transplantation and the possibility of gene therapy, are among today’s research themes and treatment options.
Support is needed in helping to increase public and professional awareness, fund medical research and help families with affected individuals. For more information, visit: http://mpssociety.org
Porterhouse is proud to support this great cause. If you would like to learn more about the excellent work by our rare diseases team, please contact Mark@porterhouse.biz