[0.1% Fighting Rare Diseases]③ "Saw a Miracle in a Baby Who Took 2 Billion Pills" Discovery of the Disease Is Also a Miracle, Why

An infant diagnosed with spinal muscular atrophy (SMA) type 1 received the gene replacement therapy 'Zolgensma' (Novartis), worth about 2 billion KRW, at Yongin Severance Hospital last July under insurance coverage. Without treatment, type 1 patients cannot stand on their own or properly vocalize, as if they were "pressed by scissors." The muscles throughout the body weaken, making breathing difficult, and eventually, they cannot swallow food properly, leading to death before the age of two. Early diagnosis and treatment are crucial, and the infant received Zolgensma relatively early, on the 77th day after birth. The guardian visited the first neurology outpatient clinic 29 days after noticing that "the baby's voice tone seemed weak and the legs lacked strength." Type 1 must be diagnosed within at least four months after symptom onset for a good prognosis. The infant was fortunate; the guardian's prompt hospital visit and the medical staff's recognition of the symptoms as SMA led to timely treatment.

Newborn image. Not directly related to the article. [Image source=Yonhap News]

Since receiving Zolgensma, the child's condition has noticeably improved. After four months, even if the head falls backward, it can return to its original position, and the child can raise arms to grasp objects. When visiting the hospital two weeks ago, the baby was able to sit and endure, as well as cry loudly. Professor Lee Ha-neul, a pediatric neurologist and the attending physician, said, "These are trivial actions for typical babies, but for infants with type 1, all these are impossible if left alone."

Testing Costs Can Reach Up to 400,000 KRW

Currently, to receive early screening for such rare diseases, parents must pay between 50,000 KRW and up to 400,000 KRW per case. Besides the financial burden, many parents do not recognize that their weaker-than-peers child might have a rare disease. Due to the progressive nature of rare diseases, prognosis significantly depends on how promptly treatment is administered, but various factors prolong the time until treatment begins.

Therefore, there is growing support for the government to include rare diseases with accurate diagnostic tests and available treatments in the newborn screening program. Since the introduction of mandatory newborn screening for guardians in 1997, free screening has been limited to about 50 types of congenital metabolic disorders and hearing screening. These diseases can be treated if detected early, significantly improving the infant's quality of life. Similarly, with treatments developed for rare diseases, rapid testing has become more important than ever. In October last year, Minister of Health and Welfare Cho Kyu-hong responded to calls during a national audit that "since Zolgensma's insurance coverage condition is within 12 months of birth, SMA should be guaranteed as a newborn screening target" by saying, "We will review it," but discussions have stalled.

This is not limited to SMA. Pompe disease, mucopolysaccharidosis, Gaucher disease, and Fabry disease, which are lysosomal storage disorders, also have developed treatments but are not included in newborn screening. Lysosomal storage disorders are genetic diseases where lysosomes, responsible for selecting and distributing necessary substances in the body, fail to function properly due to enzyme deficiencies, causing damage to body tissues and organs. Severe combined immunodeficiency and adrenoleukodystrophy also become easier to treat if detected early.

These diseases are generally tested similarly to newborn screening, which collects blood from an infant's heel, so the testing process is not particularly cumbersome. Lee Jeong-ho, Executive Director of the Korean Society for Newborn Screening (Professor of Pediatrics at Soonchunhyang University Seoul Hospital), said, "At least for rare diseases that can be detected early and treated, it is better to identify them through newborn screening before symptoms fully manifest."

Rare Diseases with Treatments... Overseas Countries Rapidly Include Them in National Screening Programs

Overseas, only rare diseases with treatments are rapidly included in national screening programs led by the government. In the United States, each state publishes a list of specific rare diseases that can be tested and treated, and supports testing costs. The guideline for states is the Recommended Uniform Screening Panel (RUSP) by the U.S. Department of Health and Human Services, which currently includes 61 diseases. SMA was added to RUSP in 2016 after the FDA approved the first SMA treatment, Spinraza (Biogen), in the same year. Pompe disease and mucopolysaccharidosis were added to RUSP in 2015 and 2016, respectively. Taiwan has established a screening system for 26 genetic diseases. Taiwan also detected eight SMA patients early through newborn screening between 2014 and 2016.