As a young child growing up in Brazil, Paula understood the frustrations known all too well by many rare disease patients, living each day without an explanation for her frequent illnesses, infections and surgeries.
Finally, at the age of twelve, after several visits to various physicians, Paula was diagnosed with Mucopolysaccharidosis I (MPS I), an inherited genetic disorder caused by a deficiency in an enzyme called alpha-L-iduronidase. Globally, MPS I occurs in about 1 in every 100,000 births.
While the news was hard for Paula and her family to accept, they were also relieved to finally have a concrete reason for years of unexplained symptoms. A confirmed diagnosis meant Paula was able to begin treatment for the symptoms that had afflicted her since childhood.
Five years after her diagnosis, Paula was accepted to our Humanitarian program. The primary goal of the program is to deliver enzyme replacement therapy, to the best of our ability, to patients with lysosomal storage disorders (LSDs) who have a demonstrated need in certain circumstances where treatment access is limited.
With more than 30 patients enrolled at any given time, Brazil is one of the largest countries in our humanitarian program. In Brazil the program is primarily used as a bridge to reimbursement.
Now 28 years old, Paula has graduated from university with a degree in psychology.
Learn more about MPS I disease and the rare diseases we treat.