rare disease 結果共3筆

Discover the significance of early detection in treating Mucopolysaccharidoses (MPS) on International MPS Awareness Day. Experts stress newborn screening’s role in identifying MPS, a rare genetic disorder, to enable timely treatment and improve life quality.

The National Health Insurance (NHI) Administration in Taiwan has announced the approval of new applications for Spinal Muscular Atrophy (SMA) treatment coverage. This decision comes after the passing of lawyer Chen Chun-han, a prominent advocate for wider medication coverage for SMA. SMA is a progressive neuro-muscular degenerative disease caused by a mutation in the SMN1 gene, impacting muscle functionality and activities such as sitting, walking, speaking, breathing, and eating. The NHI Administration has included the gene therapy drug Zolgensma, which carries a price tag of NT＄49 million, in its benefits since the second half of 2023. The criteria for medication eligibility include an upper limb motor function index (RULM) score of at least 15. There are over 400 SMA patients in Taiwan, and by the end of 2023, 158 people applied for medication, with 145 approvals. The NHI Administration plans to hold an expert meeting in March to discuss expanding access to the drugs for all SMA patients, with a potential approval in the first half of 2024.

Human rights lawyer Chen Chun-han, a legislative-at-large candidate for the Democratic Progressive Party (DPP), responds to a controversy involving the online talk show ＂The Night Night Show with Hello.＂ Chen appreciates the show’s apology for allowing mainland China media personality Wang Zhian to mimic disabled individuals, which was seen as a dig at the DPP and indirectly at Chen. Despite thinking the apology came late, Chen commends Hello and his production team for planning a special segment to discuss the issues faced by disabled and rare disease patients in Taiwan. Chen emphasizes that the core of the criticism lies in whether society can tolerate discrimination against the disabled and respect their right to political participation. He states that this is a human rights issue that transcends ideological and party lines. Chen also mentions that voters needn’t feel obligated to vote for the DPP in 2028, highlighting Taiwan’s democratic freedom and the importance of supporting any political party based on personal beliefs. However, he adds that if Hello and his team find the DPP under Lai Ching-te’s leadership satisfactory within the next four years and genuinely wish to support it, they would be welcomed.