We had a busy time at the National MPS Society Conference, talking to patients and experts in sunny Florida in December 2019. 

Mucopolysaccharidoses (MPS) is a group of inherited lysosomal storage disorders. Over the past two decades, extraordinary advancements have been made 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 listening to the diagnostic odyssey that she and her family went through. Despite the progress in therapies, delays in the diagnosis of MPS are still common.

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 flew by. We learned a lot and made friends. We left the conference pondering what we can do to help build a better future for those impacted by this devastating disease.

  • Dec 20, 2019