A Taiwanese hospital’s research highlights how nationwide newborn screening programs allow the country’s medical sector to diagnose and treat rare diseases such as Infantile-onset Pompe disease (IOPD).
The study, published in the Journal of Medical Genetics last month, says that “starting enzyme replacement therapy (ERT) before severe irreversible muscular damage” is essential to treating IOPD.
Study coauthor Yang Chia-feng (楊佳鳳), a doctor at Taipei Veterans General Hospital’s Department of Pediatrics, told reporters on Tuesday that infants diagnosed with IOPD die of heart and lung failure before they are two years old, and the mortality rate is 100 percent.
Photo courtesy of Chang Gung Memorial Hospital
Contributing author Niu Dau-ming (牛道明), head of the hospital’s Department of Pediatrics, said that Pompe disease is a rare autosomal recessive metabolic disorder that results in the body being unable to process glycogen, the buildup of which damages muscle and nerve cells.
Every year 35,000 to 40,000 children are born in Taiwan, of which one is usually diagnosed with Pompe disease, Niu said.
Due to routine procedures involving muscle biopsies and genetic exams, as well as the National Health Insurance application process for medication approval, it can take three months before a case can start treatment, Niu said.
Citing examples from other countries since 2005 when ERT was first introduced, Yang said it takes about 198 days before treatment can start.
Those who survived after treatment had to live with nasogastric tubes, ventilators, walking aides or were bedridden, Yang said.
Taipei Veterans General Hospital approves the first enzyme treatment within six hours if an infant has low enzymatic activity, decreased muscle tone, creatine kinase levels higher than 250 units per liter and a left ventricular mass index of more than 70g/m2.7, Niu said.
On average, infants at the hospital diagnosed with Pompe disease are receive their initial treatment within 9.75 days, Niu added.
Taiwan listed Pompe disease as a rare disease to test for in 2008 and is the only country in the world that screens for IOPD, Yang said, adding that 36 cases have so far been diagnosed, the oldest of whom is now 13.
Yang said that all cases can walk and eat alone and do not have to use invasive ventilators.
Taipei Veterans General Hospital superintendent Chen Wei-ming (陳威明) said the hospital would continue to foster and support the program.
It is the epitome of advanced medical care as all lives are cherished at the hospital, Chen said.
Health Promotion Administration Director-General Wu Chao-chun (吳昭軍) said that his agency would work with the National Health Insurance Administration to help cover medical costs and assist patients.
ANOTHER EMERGES: The CWA yesterday said this year’s fourth storm of the typhoon season had formed in the South China Sea, but was not expected to affect Taiwan Tropical Storm Gaemi has intensified slightly as it heads toward Taiwan, where it is expected to affect the country in the coming days, the Central Weather Administration (CWA) said yesterday. As of 8am yesterday, the 120km-radius storm was 800km southeast of Oluanpi (鵝鑾鼻), Taiwan’s southernmost tip, moving at 9kph northwest, the agency said. A sea warning for Gaemi could be issued tonight at the earliest, it said, adding that the storm is projected to be closest to Taiwan on Wednesday or Thursday. Gaemi’s potential effect on Taiwan remains unclear, as that would depend on its direction, radius and intensity, forecasters said. Former Weather Forecast
As COVID-19 cases in Japan have been increasing for 10 consecutive weeks, people should get vaccinated before visiting the nation, the Centers for Disease Control (CDC) said. The centers reported 773 hospitalizations and 124 deaths related to COVID-19 in Taiwan last week. CDC Epidemic Intelligence Center Director Guo Hung-wei (郭宏偉) on Tuesday said the number of weekly COVID-19 cases reported in Japan has been increasing since mid-May and surpassed 55,000 cases from July 8 to July 14. The average number of COVID-19 patients at Japan’s healthcare facilities that week was also 1.39 times that of the week before and KP.3 is the dominant
The Chinese Communist Party’s (CCP) working group for Taiwan-related policies is likely to be upgraded to a committee-level body, a report commissioned by the Mainland Affairs Council (MAC) said. As Chinese President Xi Jinping (習近平) is increasingly likely to upgrade the CCP’s Central Leading Group for Taiwan Affairs, Taiwanese authorities should prepare by researching Xi and the CCP, the report said. At the third plenary session of the 20th Central Committee of the CCP, which ended on Thursday last week, the party set a target of 2029 for the completion of some tasks, meaning that Xi is likely preparing to
US-CHINA TRADE DISPUTE: Despite Beijing’s offer of preferential treatment, the lure of China has dimmed as Taiwanese and international investors move out Japan and the US have become the favored destinations for Taiwanese graduates as China’s attraction has waned over the years, the Ministry of Labor said. According to the ministry’s latest income and employment advisory published this month, 3,215 Taiwanese university graduates from the class of 2020 went to Japan, surpassing for the first time the 2,881 graduates who went to China. A total of 2,300 graduates from the class of 2021 went to the US, compared with the 2,262 who went to China, the document showed. The trend continued for the class of 2023, of whom 1,460 went to Japan, 1,334 went to