By Siva, Pompe disease, infantile onset, Malaysia, January 11, 2020
Swathi was born healthy on the 12th of April 2017. At the age of 6 months, upon prolonged boughts of pneumonia, a series of tests led to the shocking results of her diagnosis with Infantile Pompe disease. Ever since our lives have not been the same.
Like any other rare parents, we were in denial, then moved on to acceptance and we are now battling it with all our strength. We get tremendous morale support not only from local but also regional and worldwide rare families.
Our challenges are similar if not better compared to worldwide rare families. While we are glad that Swathi is getting her weekly ERT Malaysia government funding and pharma iCAP program, sustainable and continuous access to her life saving drug remains in question due to the non-existence of national policy to govern and ensure a sustainable support model for rare disease patients.
We remain hopeful there will be a light at end of the tunnel for worldwide rare disease patients, especially for children.