Our Role

We have been actively supporting the rare disease community, specifically patients of Gaucher, Pompe, Fabry and MPS I in Pakistan since 2013, through our transformative therapies, patient support programs, partnerships with the healthcare community and patient societies and advocates. Additionally, we have been the pioneers of introducing and facilitating patients with free of cost diagnostic support through “Dried Blood Spot Test” (Enzyme Assays & Mutation Analysis).

Over a period of 9 years, 1500 tests have been conducted and sent abroad to designated laboratories at a cost of over PKR10million. Undeterred by the obstacles and absence of local precedents to follow in this sphere, we have been consistently working on various fronts to combat the challenges of rare diseases in Pakistan and raise a voice on behalf of the community. Disease awareness, patient advocacy, educational and support programs have yielded positive results over time leading to:

• more and more healthcare professionals have become aware of the burden of rare diseases in the country and their role in making timely and correct diagnosis of various forms of rare disorders;
• patients and caregivers know they are not alone and have support channels to turn to;
• patient societies, public & private donors are supportive of patients with unmet needs;
• and the existent public healthcare system acknowledges the unique set of challenges of the rare disease community in Pakistan
• the Govt eco-system is now cognizant of patient needs and have facilitated through waiving custom duties on LSD therapies and have acknowledged the need for a rare disease policy in Pakistan