on 04 May 2020
We followed a busy schedule at the National MPS Society Family Conference, meeting patients and researchers in sunny Florida in December 2019.
Mucopolysaccharidoses (MPS) is a group of inherited lysosomal storage disorders affecting mostly children. Over the past two decades, extraordinary advancements have been achieved in the treatment of MPS.
At a dinner event, we sat next to a mother whose child suffers from MPS. We were at a loss for words when listening to the diagnostic odyssey that she and her family went through. Inspite of the progress made in therapies, delay in diagnosis of MPS is still common. This is problematic since patients need to be treated as soon as possible to prevent irreversible damage.
We started to ask conference speakers about what has been done in educating healthcare professionals who are at the very front line of recognizing the disease. We heard comments such as things will get better once newborn screening is available. We became aware of a “depressive” study that investigated failure to shorten the diagnostic delay in MPS. We brainstormed with experts in the field about achieving early diagnosis through educating healthcare professionals with innovative programs.
The days at the conference went fast. We learned tons and we made friends. We left the conference thinking what we can do to help building a better future for those impacted by the devastating diseases.