Rare Diseases Need Government Attention

In recognition of Rare Disease Day, Roche Pakistan Limited held a panel discussion and press briefing to raise awareness about rare diseases in Pakistan and to emphasize the unmet needs of patients, especially when it comes to awareness, funding, and government support. The panel comprised MD Roche Pakistan, Ms. Hafsa Shamsie, Roche’s Head of Medical, Dr. Yasir Adnan, as well as pediatric neurologist Dr. Raman Kumar, hematologist Dr. Munira Borhany, and Mr. Muhammad Ali Shaikh, Special Secretary of Health, Govt. of Sindh.

Ms. Hafsa Shamsie, MD Roche, highlighted the fact that even for those who have been diagnosed, the lack of government healthcare spending and support makes the treatment burden for rare diseases even more difficult to bear. Rare disease sufferers are the neglected outliers in Pakistan’s healthcare system. Roche is a company that is committed to serving rare disease patients by bringing innovative treatments that can help patients live a fully normal life, or at least a much better quality of life. But treatment is one side of the picture. Ensuring that patients have awareness about rare diseases and access to these standard-of-care treatments is the other side of the picture. She shared that since 2017, Roche has run a Patient Support Program that has helped almost 25,000 patients with free treatment for several diseases, including spinal muscular atrophy and multiple sclerosis. But as the burden of disease grows, no one company or entity can go it alone. That is why it is critical to have the government on board through public-private partnerships. This will help to support rare disease patients by including funding for standard-of-care treatments in government healthcare programs. She said patients with rare diseases deserve the same care, attention, and inclusion as other patients, and that is why it is time that “recognizing the rare” becomes a healthcare priority too.

Dr. Yasir Adnan explained that worldwide, about 300 million people live with a rare disease. Moreover, with Pakistan having over 240 million people, the rare disease incidence in this country becomes more acute with such a large population. Rare diseases like multiple sclerosis, spinal muscular atrophy, and hemophilia pose not only debilitating physical and health challenges for the sufferer but also grave challenges for the families of sufferers and society at large. Without treatment, children are deprived of the chance for a normal life, such as in the case of hemophilia; young women lose out on their most productive years, as in the case of multiple sclerosis; and even SMA patients who could perhaps regain function are unable to do so. One of the other problems is that rare diseases can sometimes be invisible to others, and it can take years for someone to even get a diagnosis. Worse still, these people are often lost within a healthcare system that fails to give them answers.

He stated that worldwide, less than 10% of patients with rare diseases are treated. So the numbers of rare disease sufferers coming through the system are already underrepresented, especially in a country with poverty and low literacy. He talked about multiple sclerosis (MS), a condition that can affect the brain and spinal cord, causing a wide range of potential symptoms, including problems with vision, arm or leg movement, sensation, or balance. It’s a lifelong condition that can sometimes cause serious disability. It’s most commonly diagnosed in people in their 20s, 30s, and 40s, although it can develop at any age. It’s about 2 to 3 times more common in women than men. MS is a disabling and stigmatizing disease that can lead to social isolation and exclusion. Governments, national healthcare systems, employers, and legislation must enable people with MS to achieve a quality of life. This includes diagnosing and treating the disease early to stave off relapses and prevent the progression of disability, alongside protective legislation to enable people to access affordable treatment as well as remain in employment.

Dr. Raman Kumar said spinal muscular atrophy (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 SMA in Pakistan, cousin marriages were the most common reason for its occurrence, and Pakistan had a very high frequency of cousin marriages. Dr. Kumar suggested that the government and policymakers should work on establishing a national or provincial policy for rare diseases and building the capacity of healthcare infrastructure to serve rare disease patients. Further, he encouraged all relevant stakeholders to empower people living with SMA for equitable access to diagnosis, treatment, and social opportunities.

Dr. Munira Borhany explained that hemophilia A is a debilitating and life-threatening bleeding disorder. Hemophilia A severely affects the quality of life of patients who may experience spontaneous bleeding and bleeding due to trauma within the muscles, joints, and other internal organs, often 15-20 times a year. These bleeding episodes may either end up being fatal or result in permanent joint disability. Hemophilia A patients experience long-term psychosocial impacts as well. Children face barriers to socialization (missed school, unable to play with friends), leading to impacts on education and career decisions. Later in life, they face workplace issues (missed days at work) and have to constantly rely on caregivers to manage bleeds. She emphasized that in Pakistan there was a severe lack of hemophilia management infrastructure, and it was not generally treated in tertiary care hospitals. In addition, hemophilia standard-of-care treatment was generally not covered under any government health program. As a result, patients were forced to use conventional treatments, which hindered their chances of living normal lives. She said there is a dire need for our provincial governments to provide the utmost support, especially in terms of standard-of-care treatment, so that patients could live normal lives and become active members of society.

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