KATHMANDU, FEBRUARY 29
In commemoration of World Rare Disease Day 2024, the Rare Disease Society Nepal (RDSN) orchestrated a walkathon and convened an interaction program with stakeholders in Kathmandu today, aimed at fostering awareness.
According to the World Health Organization, there are approximately 7,000 rare diseases affecting over 300 million people worldwide. One out of every 2000 individuals diagnosed with a disease is considered rare.
Addressing a query of genetic disorder, Dr Digbijay Raja Mahat, Cancer Research Scientist at the MIT in USA said, offspring can inherit genetic mutations causing disorders even if their parents are non-carriers due to de novo mutations, which are new genetic changes that occur in the egg or sperm or early in embryo development.
Additionally, parents can be carriers of recessive genes without showing symptoms, and if both pass the gene to their child, the child may develop the disorder. "Environmental factors and rare phenomena like uniparental disomy, where a child receives two copies of a chromosome from one parent, can also contribute to the transmission of genetic disorders without direct inheritance from the parents' DNA," Dr Mahat said through 'X' formerly known as Twitter.
In observance of the day, participants, including health professionals, patients, and advocacy groups, gathered at Naxal and initiated a march along Hattisar and Putalisadak, displaying banners, placards, and t-shirts adorned with messages about rare diseases. Subsequently, they convened at the Nepal Medical Association (NMA) hall in Pradarshani Marg, earlier this morning.
Dr. Rupesh Mishra, a Clinical Geneticist at the Civil Service Hospital in Kathmandu, stated, "About 80 percent of rare diseases are genetic, while others are due to infections, environmental factors among others," Dr. Mishra said while initiating a panel discussion with stakeholders on the matter.
Challenges and Problems:
Dr. Mishra initiated the panel discussion by addressing the challenges and problems faced with rare diseases across Nepal, directing the conversation to Dr. Rajan Pandey, who has been continuously working on sickle cell anemia in far-western region for years.
According to Dr. Rajan Pandey, challenges persist in creating awareness about the diseases among patients and clinicians, along with problems related to diagnostic delays due to the lack of genetic testing laboratories in Kathmandu, let alone in other regions.
However, he expressed optimism, noting significant progress that has been made, offering hope to patients and their families. Dr Pandey was also honoured with a memento and certificate for his outstanding services in the areas of sickle cell anemia in the far-western region for more than a decade.
Similarly, Pratyusha Ghimire an A level student was also awarded for voluntarily contributing in creating, designing and maintaining the RDSN website.
Echoing Dr. Pandey's sentiments, another panelist, Dr. Niraj Singh, Hematologist, Hemato Oncologist at the National Academy of Medical Science (NAMS), Bir Hospital,, acknowledged the government's efforts in addressing Sickle Cell Anemia and Beta Thalassemia but stressed the need to streamline these efforts down to the provincial and local levels.
Similarly, Dr. Pragya Gautam Ghimire, Associate Professor at Department of Pathology, Nepalgunj Medical College and Teaching Hospital, shared her experiences, comparing the present situation to the challenges faced in the past when diagnosing sickle cell and Kalazar in the region.
She emphasized the urgent need to establish a data registry system to understand the disease burden geographically and urged health practitioners to share relevant data.
On a different note, Dr. Neelam Thakur reflected on the skepticism she encountered upon returning to Nepal to work as the first geneticist.
She proudly noted the significant increase in the number of patients with genetic disorders seen monthly, advocating for the establishment of a multi-specialty hospital with genetic testing facilities and the implementation of neonatal pretesting to alleviate the burden on families and the nation.
Present scenario and way forward:
In the official round of the discussion, World Health Organization (WHO) Nepal representatives Dr. Suman Panthi stated, "We are closely working with the government and others to create awareness about rare conditions among patients and clinicians," adding that WHO has also supported Bir Hospital in diagnostic areas.
Similarly, Nepal Medical Association Chairman Dr. Anil Bikram Karki emphasized that diseases, although uncommon, are significant to affected families and advocated for addressing rare conditions at the policy level to ensure treatment, diagnostics, and support for impacted families.
Chief guest Dr. Roshan Pokhrel, Secretary at the Ministry of Health and Population, acknowledged the devastating impact of these conditions, citing a personal experience with his cousin diagnosed with Duchenne muscular dystrophy.
Despite efforts to seek treatment in the USA, the cousin passed away. Dr. Pokharel recognized resource limitations but assured efforts would be made to incorporate rare disease issues into upcoming health policies.
In closing remarks, Nirmal Khadka, Chairperson of Rare Disease Society Nepal, emphasized the importance of coordination among various stakeholders in Nepal to achieve the UN-envisioned Universal healthcare for all, as outlined by the UN resolution, ensuring no one is left behind.
February 28th is globally recognized as World Rare Disease Day, with the aim of fostering understanding about rare diseases among clinicians and advocating for equitable healthcare.
