‘Rare diseases are not that rare’ Interview with Dr. Durhane Wong-Rieger

About Dr. Durhane Wong-Rieger

Dr. Durhane Wong-Rieger, the founder of the Canadian Organization for Rare Disorders (CORD), is an educator and advocator of medical and social improvements for patients living with rare diseases. She contributed her knowledge to a diversity of fields through decades of experience raising awareness for people living with rare diseases.

Rare disorders own several correlations with inheritance, environmental factors and policies, and even derive relevant social and psychological problems. Many conferences have been held to positively change the life quality of patients with rare disorders, including the annual conference of Asia Pacific Alliance of Rare Disease Organizations (APARDO) in Taiwan during Oct. 19th and 21st of this year. The annual conference invited guests from a total of 19 countries to share medical, regulatory and healthcare opinions and collaborate to work out the best for victims of rare disorders. Dr. Durhane Wong-Rieger, a prestigious scholar and a passionate fighter, was one of the guests interviewed by GeneOnline. She expressed her passion for rare disease advocacy to discuss about constant amelioration on patients living with rare disorders from the regulatory, social and psychological views.

 

Constant Improvements on Patients Living with Rare Disorders

“Rare diseases are not that rare,” constant improvements on patients living with rare disorders should be an ongoing project for multilateral aspects like government, public awareness and other relevant organizations and institutions. Dr. Wong-Rieger has been part of this ongoing project for many reasons that amplifies her intention and enthusiasm to shape the lives of patients living with rare disorders better. The first reason stems from personal connection: her beloved family members who suffer from rare disorders. The second reason derives from her advocacy experiences in healthcare. The third reason stems from her impulses as a psychologist, or more so an educat­­­­­­­or harboring a mission to disseminate knowledge. These three reasons catalyze Dr. Wong-Rieger’s determination to become a leader as well as an integrator to improve the lives of people living with rare disorders through increased advocacy and support, including the patients’ will to positively identify with their diseases, researchers’ recognitions and government’s support for rare disease, altogether. In the meantime, the identity as an integrator points a direction for organizations for rare disorders in many countries to work toward through assisting patients to gather sufficient resources domestically and internationally.

 

Correlation between Rare Disorder: Inheritance and Environmental Risks

Rare disorders could be attributed to several factors, such as inheritance and environmental agents. Dr. Wong-Rieger indicated approximately 70% of rare disorders result from genetic errors. Spontaneous gene mutations occur or are inadvertently passed down from generation to generation. For example, healthy parents each with a recessive gene associated with a particular disorder might have a child who is born with a rare disorder. Although prenatal diagnosis determines whether the developing baby has a problem, it is challenging to examine minor gene variations like spinocerebellar atrophy and congenital metabolic diseases, even through the traditional chromosomal examination, the most developed DNA microarray, or anomaly scan. Interestingly, genetic errors are not solely inherited. In addition, environmental aspects play a role in rare diseases as well. Drugs, air pollution, and contaminated water are all components that may contribute to genetic defects. Clearly, there is still room for improvements with genetic testing on rare disorders and regulations on lowering environmental hazards.

 

Legislation and Policy Play a Crucial Role in Supporting Rare Diseases System

“working collectively” maintained a heavy presence during Dr. Wong-Rieger’s responses. For her, “working collectively” with multilateral (patients, researchers and government) involvement is tremendously challenging. Dr. Wong-Rieger pointed out that Asia takes up a large part of all rare disorder incurrence rate; in fact, it contributes the most cases of rare disorder among all other continents. Fortunately, several Asian countries, including Taiwan, Japan and Korea, who take advantage of research on numbers of rare disorder case studies with a well-established research platform and regulate relevant policies to protect patients’ rights. Among these countries, Dr. Wong proclaimed Taiwan Foundation for Rare Disorder (TFRD) as a mature model for other countries because it provides holistic services in tying medical field, patients’ support groups, research and industry and even the public altogether to effectively raise the awareness of rare disorders. TFRD’s services include several elements: “improving the lives of rare disease patients by assisting rare disease patients to receive proper medical treatment and rehabilitation, securing orphan drugs and special nutrients and fulfilling the needs of rare diseases patients in terms of education, employment, and long-term care.” Meanwhile, “TFRD advocates the adoption of relevant legislation to ensure rare disease patients’ rights, encourages rare disease research and raises public rare disease awareness.” All-in-all the Taiwan Foundation helps us understand how diseases progress as well as how to potentially prevent or decelerate forms of deterioration.

Many countries mirror Taiwan’s exemplary foundation for rare disorder patients, including Vietnam, Korea, Thailand, Japan and even the US. According to Zhi-Dong Wu, the director of Vietnam National Hospital of Pediatrics, although there are many outstanding doctors in Vietnam, the lack of legislative support makes the introduction of new drugs difficult and thus referencing TFRD could help improve regulations in Vietnam. As for Japan, despite the high governmental subsidies, the public concern for rare disorder patients is relatively lower than in Taiwan. Japan might change this lack of awareness by mirroring how Taiwan builds a stronger awareness toward rare disorder patients. Another example where the TFRD made a positive influence is the collaboration between the Malaysian government and a patient association that resulted in greater patient rights advocacy and subsidizing their medical expenses since 2011.

 

The Need for Psychological Medication on Victims of Rare Disorder & Their Families

Emotional burden builds psychological shackles that, in the long term, could gradually break-down these parents’ mental states for instance developing anxiety, depression, and in some cases suicide. For the patients themselves, their disorders become debilitating for their mental health and self-confidence. As a psychologist, Dr. Wong-Rieger hopes to raise the awareness of constructing a positive mindset for both rare disorder patients and their families in order to better prepare them to overcome the inevitable psychological challenges.

 

Edit by Judy Ya-Hsuan Lin
Interview by Ella Chen

 

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