KARACHI: Roche Pakistan Limited held a panel discussion and press briefing on Thursday to raise awareness about rare diseases in Pakistan on the occasion of Rare Disease Day.
The event was aimed to emphasize the unmet needs of patients, especially when it comes to awareness, government support, and funding. The panel comprised MD Roche Pakistan, Hafsa Shamsie, Roche’s Head of Medical, Dr. Yasir Adnan, paeds neurologist, Dr. Raman Kumar, hematologist Dr. Munira Borhany, and Dr. Saqib, Director of Health Services, Health Department Sindh.
Hafsa Shamsie underlined the fact that even for those who have been diagnosed, the lack of government healthcare and support makes the treatment burden for rare illnesses even more difficult to bear. Rare disease sufferers are the neglected outliers in the healthcare system of Pakistan.
Roche is a company that is committed to serving rare disease patients by providing innovative treatments that can help patients live a fully normal life or at least a much better quality of life. But, the cure is one side of the picture. Ensuring that patients have awareness about rare diseases and access to this standard of treatments is the other side of the picture, she said.
She added that since 2017, Roche has run a Patient Support Programme that has helped at least 25,000 patients with free-of-cost treatment for a number of diseases, including Multiple Sclerosis and Spinal Muscular Atrophy. But as the burden of disease grows, no firm or entity can go it alone. That is why it is important to have the government on board through public-private partnerships.
300 Million Patients of Rare Diseases Worldwide
Dr. Yasir Adnan explained that worldwide, nearly three hundred million people live with rare diseases. Moreover, with Pakistan having more than 240 million people, the rare disease incidence becomes more acute with such a large population.
He said that rare diseases like Spinal Muscular Atrophy, Multiple Sclerosis, and Hemophilia pose not only debilitating health and physical challenges for the patient but also grave challenges for their families and for society at large. Without treatment, children remain deprived of a normal life, such as in the case of hemophilia, young girls lose out on their most productive years, as in the case of multiple sclerosis, and even Spinal Muscular Atrophy (SMA) patients who could perhaps regain function are unable to do so. One of the other issues is that rare diseases can sometimes be invisible to other people, and it can take years sometimes for someone to even get a diagnosis.
Dr. Raman Kumar said that SMA is a severe neuromuscular disease and one of the leading genetic causes of infant death. He said that even though there was a lack of data to assess the prevalence of the disease in Pakistan, cousin marriages are the most common reason attributed for its occurrence and the country had a very high frequency of cousin marriages.
Dr. Kumar suggested that government and policymakers should work on establishing national and provincial policies for rare diseases and building the capacity of healthcare infrastructure to serve rare disease patients.
Dr. Munira Borhany said that Hemophilia A is a life-threatening and debilitating bleeding disorder. It severely affects the life quality of patients who may experience spontaneous bleeding and bleeding due to trauma within the joints, muscles, and other internal organs, often fifteen to twenty times a year.
She said that these bleeding episodes may either end up being fatal or result in permanent joint disability. Hemophilia A, sufferers experience long-term psychosocial impacts as well. Children face barriers to socialization (unable to play with friends, missed school), leading to an impact on education and career decisions. Later in life, they face workplace problems (missed days at work), and have to constantly rely on carers to manage bleeds.
