This article is excerpted from the 449th issue of "Commonwealth Magazine,"

written by Chung Bi-fang ， photographed by Hsu Hung-wei

At the Rare Diseases Treatment Center of Taipei Veterans General Hospital, one can often see a kind figure shuttling back and forth. He is Dr. Niu Dao-Ming, affectionately known as "Uncle Niu" by the children. Dr. Niu is the director of the Department of Pediatrics and the Rare Diseases Research and Treatment Center at Taipei Veterans General Hospital, as well as a professor at the National Yang-Ming University Institute of Clinical Medicine.

Dr. Niu, a reliable figure in the hearts of rare disease patients and their families, is not only kind and approachable with patients, but also highly accomplished in rare disease research. His team has achieved the world's best results in the treatment of drug-type phenylketonuria and infantile Pompe disease. They were also the first to discover that Taiwan has the highest incidence of Fabry disease in the world, and their research shows that this disease is an important health issue that Taiwanese people should be aware of.

Dr. Niu's fruitful research achievements have been recognized by experts and scholars both domestically and internationally. He has received the Outstanding Research Award from the Ministry of Science and Technology, and has been selected as a decision committee member for the world's most important Fabry disease long-term follow-up study project (FOS). He has also been invited by Microsoft headquarters to serve as a decision committee member for rare disease AI, collaborating on the application of artificial intelligence in rare disease diagnosis and treatment. Due to Dr. Niu and his team's long-term contributions to rare diseases, they were awarded the Special Contribution Award for Rare Disease Prevention and Treatment from the Taiwan National Health Administration during the 20th anniversary of rare disease legislation, making them the top medical institution.

For over 20 years, Dr. Niu has devoted his professional knowledge and experience wholeheartedly to the treatment and care of rare diseases. Shy by nature, he chuckles when discussing his medical journey, saying, "At first it was my father's arrangement. It was like choosing this path under his command."

Witnessing the passing of a young girl, I entered the field of rare disease treatment.

Dr. Niu's father was a senior doctor in the past, and his mother was a nurse. Since both parents hoped that the Niu family could produce another doctor, but the eldest brother had no interest in medicine and pursued missile technology research, and the elder sister loved history and literature, the expectation of having a child become a doctor fell on the youngest son, Niu Dao-Ming. "I didn't actually have any particular aspirations, and was just a good student in school. However, I did have a talent for biology." Therefore, under his father's encouragement, he chose the path of medicine.

Witnessing the passing of a young girl led Dr. Niu Dao-ming to enter the field of rare disease treatment, despite his parents' hopes that he would inherit the family clinic.

Looking back, Dr. Niu graduated from Kaohsiung Medical University with excellent grades and passed the exams for internal medicine and pediatrics at Taipei Veterans General Hospital. He initially wanted to become an emergency physician and save patients on the brink of death, so he chose the newly established respiratory therapy department.

However, his parents thought respiratory therapy was not mainstream and required 24-hour availability for emergencies, which would be very challenging. They insisted that Dr. Niu choose pediatrics. Reluctantly, he did so but did not find his true calling until he witnessed the death of a young girl with a rare disease.

Dr. Niu recalled his first year as a resident, when he encountered a middle school girl with yellow cholesterol tumors on her joint areas. She was admitted to Taipei Veterans General Hospital for a heart catheterization, and he was reviewing her medical records when she suddenly died on the other side of the ward despite emergency efforts. This event greatly shocked Dr. Niu. He later discovered that the girl had a one-in-a-million chance of inheriting homozygous familial hypercholesterolemia, a rare genetic disorder. Her life could have been saved if she had received timely treatment.

At that time, the medical community in Taiwan paid little attention to rare diseases. Dr. Niu decided to deepen his understanding of rare diseases and provide appropriate treatment as early as possible. His compassion led him to pursue a career in rare disease treatment and research. In 1998, he actively founded the first rare disease patient association in Taiwan, the "Society of Inherited Metabolic Disorders and Caregivers." The association regularly cares for patients, advocates for social resources, and provides a platform for patients and their families to communicate and face the challenges of their illnesses. In the same year, he also established the first "Rare Disease Joint Clinic" in Taiwan at Taipei Veterans General Hospital, which provides specialized consultations for patients with rare genetic diseases and joint diagnoses by multiple specialists.

Newborn Whole Genome Screening Can Help Early Detection and Treatment

According to the rare disease notification case statistics table issued by the National Health Insurance Administration of the Ministry of Health and Welfare in March 2020, there are currently over 17,000 people with rare diseases in Taiwan. There are many types of rare diseases, and each clinical symptom is different. There are 223 rare diseases recorded in Taiwan alone.

Simply put, rare diseases are diseases with a low prevalence rate and are less common. Some better known rare diseases include phenylketonuria, thalassemia major, osteogenesis imperfecta (brittle bone disease), mucopolysaccharidosis (Hurler syndrome), spinal muscular atrophy (Penguin disease), and so on. Some rare diseases have only a few cases worldwide and are unheard of.

Due to advancements in technology, it used to take ten years and billions of dollars to sequence a person's genome, but now it only takes a few days and tens of thousands of dollars to complete a person's whole genome sequencing. Therefore, many people hope to use whole genome sequencing for prenatal screening. However, Dr. Daw-Ming Niu believes that this is a significant risk.

Currently, it is not clear whether many genetic variations will actually cause disease. If a genetic variation is detected, and the fetus is aborted, it may lead to the loss of a life. Dr. Niu himself has undergone whole genome sequencing and found that he has a gene defect that may cause intellectual disability. "If there was prenatal whole genome sequencing at that time, would I have been aborted in the fetal stage, and there would not be me now?" Therefore, before conducting prenatal genetic testing, it is necessary to learn more and think twice to avoid tragedies.

However, Dr. Niu believes that whole genome screening for newborns is a feasible approach. Early detection of congenital genetic diseases or vulnerabilities can lead to early prevention and treatment, avoiding irreversible physical damage, and potentially saving precious lives.

In Taiwan, the screening for newborns with congenital metabolic disorders has been carried out since 1985, in order to detect and treat them in a timely manner, and to reduce the regret of permanent physical damage in the future. However, the National Health Insurance Administration currently only screens for 21 specific diseases. In fact, there are at least thousands of gene mutations that can be acted upon (actionable) early, which can significantly improve patient prognosis. Therefore, Dr. Niu believes that whole genome sequencing can be used in newborn screening.

With almost no vacation time, Niou Dao-Ming devotes himself wholeheartedly to rare disease treatment without complaint.

For some patients with rare diseases, they are unable to consume protein-rich foods for their entire lives and can only supplement their nutrition with special foods. They cannot enjoy regular cuisine, causing great sadness for some parents who believe their child's life is bleak. However, Niou Dao-Ming often advises these parents to think of these children as little bodhisattvas sent by heaven. If they can think from a different perspective, they can often find comfort.

Under Niou Dao-Ming's care for many years, many children with rare diseases have grown up happy and healthy just like normal people, and some even exhibit outstanding performances in life due to their own perseverance and hard work.

Since starting his practice, Niou Dao-Ming has been busy researching rare diseases and works almost year-round without any holidays. When asked about his leisure activities, he jokingly said that besides occasionally going out to eat with his family, he spends most of his time in the research room. If he has free time, he often reads books or watches videos related to history. As for his diet, he mostly follows his wife's instructions and tries to avoid oily and high-sugar foods. As for exercise, he used to run 5,000 meters around the track almost every day in college, but he became too busy after becoming a doctor. Occasionally, he jogs on the treadmill or walks slowly near Bei-Rong Huangxi, but he has had to stop due to problems with his lumbar spine recently, so he is currently looking for a suitable form of exercise.

Taiwan's rare disease treatment and care are globally unique.

According to Niu Dao-Ming, Taiwan is quite advanced in the treatment of rare diseases, and thanks to the Rare Disease Foundation's active promotion of rare disease legislation, patients with rare diseases can now receive excellent care. Additionally, Taiwan has the world's highest rate of newborn screening, which is done very well and efficiently. As a result, the treatment outcomes for many diseases are the best in the world.

However, he admits that rare diseases in Taiwan do not receive as much attention as other diseases. Due to the variety of rare genetic diseases, the small number of patients with each disease makes it difficult to learn, and fewer doctors are willing to invest in this field, leading to a lack of care for rare disease children in many regions of Taiwan. With the rapid development of whole-genome sequencing technology and artificial intelligence, diagnosing rare diseases is no longer as difficult as before, and various rare diseases have also developed effective treatment drugs and methods.

Therefore, Niu Dao-Ming is actively encouraging young doctors and researchers to join the rare disease treatment and research ranks, so that more rare disease patients can receive better care.

Currently, Taiwan's medical treatment and care for rare diseases enjoy a high reputation internationally, and families of children with rare diseases do not need to worry too much. They can trust rare disease doctors, follow medical advice, and return for regular checkups so that their children can grow up happily.