Ms. Hafsa Shamsie, MD, Roach, said the burden of treating this rare disease is aggravated by the lack of public health funding and support even for those diagnosed. People with rare diseases are neglected in Pakistan’s healthcare system. Roche is a company dedicated to serving patients with rare diseases by implementing innovative treatments that can help patients live normally, or at least better. But treatment is only one side of the picture.
Ensuring patient awareness of rare diseases and access to these treatments is another side of the picture. He said Roach has had a patient support program since 2017 to support nearly 25,000 patients who receive free treatment for various conditions, including spinal muscular atrophy and multiple sclerosis. But as the burden of disease rises, no company or organization can stand alone. This is why the government through public private partnership is very important. It will help support the government’s health care programs by funding the standard of care for patients with rare diseases. He said that people with rare diseases deserve the same care, attention and inclusion as other patients, so it is time to make ‘Rare Recognition’ a healthcare priority.
Dr. Asirasir Adnan explained that approximately 300 million people around the world live with rare diseases. In addition, with a population of over 240 million people in Pakistan, rare diseases in the country are exacerbated by the large population. Rare diseases such as multiple sclerosis, spinal muscular atrophy, and hemophilia cause not only physical and health problems for patients, but also for families and society as a whole.
Without treatment, children lose the chance to live a normal life, as with hemophilia, young women miss their productive years as with multiple sclerosis, and even high school patients who can regain function do not. meat Another problem is that rare diseases are sometimes invisible to others and can sometimes take years to be diagnosed. Worse, these people are often lost in an unresponsive healthcare system.
He says less than 10% of rare diseases in the world can be cured. So the number of people suffering from rare diseases of the system is already representative – especially in poor and illiterate countries. He talked about multiple sclerosis (MS) – a condition that can affect the brain and spinal cord, causing a variety of symptoms, including vision, arm or leg movements, sensation or balance. It is a lifelong condition that can sometimes lead to serious disability.
It is most often diagnosed in people in their 20s, 30s, and 40s, but it can develop at any age. This is 2-3 times more common in women than men. MS is a disabling and devastating disease that can lead to social isolation and alienation. It is important for the government, the national health system, employers and legislation to enable people with MS to achieve quality of life. Preventing disease and preventing the development of disability includes diagnosis and treatment, and protective laws that allow people to get affordable care and stay in work.
Spinal muscular atrophy (SMA) is one of the leading genetic causes of severe neurovascular disease and infant mortality, said Dr. Raman Kumar. Although there is a lack of data to estimate the prevalence of high school in Pakistan, he said that cousin marriage is the most common cause of its occurrence and that cousin marriage is common in Pakistan. Dr. Kumar said that the government/policymakers should work in making national/provincial policies for rare diseases and increase the capacity of healthcare infrastructure to serve patients with rare diseases. It also encourages all stakeholders to empower people living with high school to have equal access to diagnosis, treatment and social opportunities.
