Tanapol Dokkaew, kidney disease survivor and avid advocate for rare diseases

Globally, more than 400 million people grapple with rare diseases. In Thailand, around 3.5 million individuals, comprising 5% of the population, are affected, and approximately only 20,000 rare disease patients are under the Thai healthcare system.

Every year, a considerable number of Thai individuals grapple with rare diseases. Despite their diligent self-care, many find themselves unexpectedly afflicted with illnesses for which the cause remains unknown. Unfortunately, the journey to realising they have a rare disease is often prolonged, leading to delayed diagnoses, restricted access to necessary treatments and can lead to premature death.

This group of patients faces various challenges, including delayed diagnoses, limited healthcare access, and the risk of social marginalisation within the Thai community. Furthermore, caregivers and those affected by rare diseases often confront economic hardships due to their constrained access to healthcare services. This situation compels them to shoulder the responsibilities of self-care and caregiving, potentially resulting in missed work opportunities and financial struggles.

These difficulties underscore the broader issue of the economic repercussions on both patients and caregivers when confronted with limited healthcare accessibility.

At the forefront of the battle against rare diseases in Thailand is Tanapol Dokkaew, President of the Friends of Kidney Diseases Association and President of the Citizens Network for Healthy Forum. Tanapol, himself a kidney disease patient, highlights rare diseases affecting the kidney. Drawing from his personal experience and extensive collaboration with patients and public health officials, Tanapol highlights the alarming instances of kidney disease patients exhibiting abnormal symptoms or experiencing sudden kidney failure without apparent causes.

“The common causes of kidney diseases include genetic factors, hypertension, diabetes, lifestyle, dietary habits, and medications. However, some patients unexpectedly suffer kidney failure, which is linked to rare diseases." Tanapol said.

Tanapol brings attention to the challenges faced by Thai patients dealing with rare diseases such as Systemic Lupus Erythematosus (SLE), Hemophilia, Rheumatoid Arthritis, and Neurofibromatosis (NF). Despite the relatively small number of individuals affected, these rare diseases significantly complicate patients' lives. The difficulty in accurately diagnosing these conditions often leads to misdiagnoses, causing delays or, in some unfortunate cases, even death. The inherent complexity of these diseases makes the lives of those affected more challenging; therefore, appropriate and timely treatment becomes essential for improved outcomes.

Tanapol has dedicated himself to addressing rare diseases since 2019, predating the Covid-19 pandemic. His efforts have identified over 300 rare diseases in Thailand. Currently, individuals with rare diseases in Thailand have access to medications and treatments for 24 diseases, covering more than 40 diseases.

As a kidney policy advocator, Tanapol has seen the trend of a rare and often overlooked condition called Atypical Hemolytic Uremic Syndrome (aHUS), which has proved to be silently lethal for some patients. This uncommon condition triggers tiny blood clots in the body's small vessels, significantly affecting critical organs like the kidneys, leading to irreversible damage and eventual kidney failure.

Highlighting another rare disease with potential implications for kidney health in Thailand, Tanapol spotlights Atypical Hemolytic Uremic Syndrome (aHUS). This disorder disrupts the normal functioning of the complement system, leading to red blood cell rupture, platelet formation, and urea accumulation in the blood, often manifesting through paleness and weakness symptoms.

Currently considered a rare disease in Thailand and globally, aHUS present a considerable challenge in screening and diagnosis due to the lack of definitive clinical practice guidelines and laboratory tests. This delay contributes to late diagnosis of patients, with up to 79% loss of life or progress to end-stage renal disease within three years of diagnosis.

Considering the hurdles, Tanapol stands as a prominent advocate in Thailand, urging the government to adopt a comprehensive approach to rare disease screening akin to Taiwan's model. Taiwan achieves a 100% screening rate for rare diseases in newborns, supplemented by follow-up screenings over 6-8 years.

Taiwan, with a population of 23 million, boasts 25 centres dedicated to supporting individuals with rare diseases across the country. In contrast, Thailand, with a larger population of 67 million, faces the challenge of providing comprehensive care for those with rare diseases. Currently, individuals with rare diseases in Chiang Mai may need to undertake impractical journeys to Khon Kaen for treatment due to the limited availability of specialised centres in their region.

Malaysia's Ministry of Health a dedicated fund and budget for the management of rare diseases, aimed at supporting the treatment of rare diseases, aiming to support follow-up treatment for diagnosed patients and initiate treatment for those on waiting lists.

Tanapol underscores the significance of proactive measures within Thailand’s public healthcare system. These measures involve implementing early screening for rare diseases from infancy, guaranteeing equitable access to treatment, and establishing support mechanisms for patients in their homes. Central to this approach are specialised healthcare professionals and well-equipped facilities tailored to address the unique challenges of rare diseases.

He added, "Firstly, my primary concern is implementing 100% proactive measures in Thailand's public healthcare system, similar to Taiwan. We aim to avoid relying solely on screening when diseases emerge. Secondly, we advocate for quicker screenings and diagnoses to ensure prompt patient treatment. Establishing a supportive unit with a comprehensive drug system that adheres to standards for referrals and medication is crucial. The entire system should be streamlined for efficiency and effectiveness.”

In Tanapol's vision, tackling rare diseases is not just a medical challenge but a societal responsibility. He envisions a scenario where every individual receives timely and effective care regardless of their condition. Tanapol is committed to safeguarding the right to standardised treatment and actively advocates for the rare disease community and society.

In his pursuit, Tanapol extends a warm welcome to individuals affected by rare diseases and everyone else to join his association. This inclusive approach emphasises the importance of collective efforts in ensuring equitable access to care for all.