Rare Diseases in Asia and the Pacific Must be Tackled Too

By Ritu Jain

By Ritu Jain

Rare Diseases in Asia and the Pacific Must be Tackled Too

Unlike the coronavirus disease (COVID-19), few people will have heard of the rare disease Epidermolysis Bullosa (EB). It is an inherited genetic condition that affects the skin and can be fatal during infancy or early childhood for those suffering from its most severe forms. The condition causes the skin, both outside as well as inside the body, to blister and tear easily. Since the skin is unable to withstand normal wear and tear, it gets repeatedly wounded and the cells can become cancerous.

EB is just one of as many as 7,000 rare diseases known globally. Despite the classification of these diseases as “rare,” they affect approximately 258 million people in Asia and the Pacific, around half of whom are children. This represents a significant disease burden, especially since two in three rare disease patients do not receive the best available evidence-based care, according to a new report by the Economist Intelligence Unit commissioned by CSL Behring. The report, Suffering in Silence: Assessing Rare Disease Awareness and Management in Asia-Pacific, signals the urgent need for countries to look at what can be done for rare disease patients.

Rare diseases are especially challenging to manage in Asia and the Pacific because of the socioeconomic disparities across the region and the lack of research, expertise, and health policies for rare disease patients. The region also suffers from low medical awareness and a lack of momentum in acknowledging and addressing the unmet needs of patients. Most importantly, these deficiencies are exacerbated through the paternalistic health systems in the region, in which patients’ voices are seldom heard or respected.

As a mother of a daughter with EB, I have experienced first-hand the difficulties that parents face when discovering that their child has a rare disease and requires support and understanding from a social system for needs beyond medical treatment. For patients to access better care and improved quality of life, it is crucial to address the issues surrounding disease awareness, healthcare professional knowledge, and the existing policies and social and financial support in the rare disease landscape.

An uncoordinated approach to rare diseases

These issues largely stem from an uncoordinated approach to rare diseases. There is no single, widely accepted definition of a rare disease, and definitions can even differ between regions and economies. For example, Taipei, China’s Ministry of Health and Welfare defines a rare disease as a condition that affects less than 0.01% of the population, while in Japan, the Ministry of Health, Labour, and Welfare defines it as affecting less than 0.1% of the population. For patients, this translates to significant delays in diagnosis—the average time for a correct diagnosis for rare disease patients is 7 years—and can lead to insufficient financial and social assistance and inadequate access to evidence-based care, which all contribute to reducing the quality of life.

However, rare diseases, by their very nature, mean we will always lack sufficient data, and often a set of data from one population is not relevant to another. This means that we do not need perfect data to implement programs for care, treatment, and support. Instead, we can learn from models such as Taipei, China, and Japan to build programs around identified diseases and extrapolate key learnings to develop broader rare disease policy.

While the challenges posed by rare diseases remain complex, there are three key areas, as presented in the Economist Intelligence Unit report, that can be addressed to ensure improvement for patients.

Closing the gaps in data and knowledge

Despite the high collective burden on patients, there is a lack of data and comprehensive training for healthcare professionals in the area of rare diseases. The majority of healthcare professionals in Asia and the Pacific seldom see rare disease patients, with 14% of those surveyed for the Economist Intelligence Unit’s report mentioning they had never encountered a rare disease patient in their career. Many, understandably, do not feel confident to diagnose and manage these rare conditions.

To close the gap in knowledge, there is a need for more comprehensive training and ongoing professional development for healthcare professionals to enhance their understanding of the broad spectrum of rare diseases. At the national level, establishing disease programs that use a combination of multidisciplinary teams and clinical databases can facilitate more accurate diagnoses through the sharing of available data and knowledge. In the absence of local rare disease centers of expertise, we urgently need to invest in virtual networks of reference centers to access data, diagnoses, and disease specialists. These can facilitate the establishment of management regimes in partnership with patients’ local primary care providers for ongoing support and monitoring. Patients should also be accepted and respected as critical partners in the management of their conditions, as they often know more about their symptoms, care pathways, and the progression of their diseases than healthcare professionals. Patients can be invaluable partners, and they need opportunities to make a positive difference.

Collaborating to improve access and quality of care

Rare disease patients require multifaceted support. A lack of standardized clinical guidelines for treatment and the limited availability of regulatory-approved medicines for rare diseases result in a fragmented treatment journey that often leads to suboptimal care.

The scarcity of relevant knowledge and experience with rare diseases creates a unique need for collaboration. This includes collaboration between medical disciplines to provide patient-centric care and international partnerships to improve the overall standard of care through knowledge exchange and resource sharing.

Integrating social and financial care for patients living with rare diseases

Beyond poor health, people living with a rare disease also experience the financial burden of paying for medicines and care associated with their condition as well as social disadvantages. In Singapore, where there are about 50 people living with EB and many more with rare skin conditions, patients, especially children, face not only barriers to accessing education, mobility limitations, restrictions on social activities, and tremendous general stigma but also the high cost of managing their disease. For example, a 5-gram tube of ointment costs S$71, and an 8 x 24-inch foam dressing for wounds requiring daily change costs S$104 per piece. Given that nearly every inch of the skin needs to be covered, the daily cost of dressings, bandages, tapes, and ointments for a five-year-old child could amount to a conservative S$440 per day. This excludes dietary supplements, special clothing, footwear, and therapy, which are critical for baseline care.

Given that approximately 94% of rare diseases have no approved medical treatment, according to a recent report by the World Economic Forum (2020), rare disease policies are not complete without a holistic acknowledgment of the challenges related to patients’ conditions. Care needs to shift beyond medicine to focus on non-medical services that facilitate mobility, education, employment, and social integration so that patients can receive holistic help and live well with their conditions. The role of patient groups should also not be overlooked. Rare disease patients are an invaluable resource for driving change and action, and patient groups are the most effective advocates of change. They should be provided with opportunities to collaborate with stakeholders in the healthcare system and government to develop treatment guidelines and policies that can make a difference in their lives.

The way forward

Ultimately, these three high-priority areas represent opportunities for short- and long-term solutions to addressing the needs of the rare disease community.

Amid the rightful focus on combating COVID-19, there is an urgent, parallel need for stakeholders across the region, from healthcare professionals to policymakers, to take concrete steps toward creating a more holistic and unified approach to care that is currently missing for the rare disease population.

This article was first published in Asia Pathways, the blog of the Asian Development Bank Institute  (ADBI).

About the Author:

Ritu Jain is President of the Asia-Pacific Alliance of Rare Disease Organisations and a faculty member at the School of Humanities, Nanyang Technological University, Singapore.

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DISCLAIMER: The views expressed in this insight piece are those of the author and do not necessarily reflect the official policy or position of the IndraStra Global.
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IndraStra Global: Rare Diseases in Asia and the Pacific Must be Tackled Too
Rare Diseases in Asia and the Pacific Must be Tackled Too
By Ritu Jain
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