Health Discussion: Exploring Uncommon Illnesses
Health Talk: Illuminating the Issues Surrounding Rare Diseases
TroibNews 
Rare diseases affect millions across the globe, yet the processes for diagnosing and treating these conditions remain formidable challenges.
China has achieved remarkable strides in this field, as Zhang Shuyang, president of Peking Union Medical College Hospital, shared with Xinhua during the 2024 China Conference on Rare Diseases in October. The average diagnosis time for rare diseases has been slashed from four years to under four weeks. Furthermore, medical costs have fallen by 90 percent, and public awareness of rare diseases has increased from 31 percent to 69 percent, according to Zhang.
Many rare diseases are often linked to congenital genetic factors and are closely associated with birth defects.
Yu Yanhong, an official from the National Health Commission of China, noted during the same conference that there are over 8,000 recognized birth defects, a number of which are categorized as rare diseases. In 2023, China recorded more than a 50 percent drop in both the infant mortality rate and the under-five mortality rate related to birth defects compared to ten years prior, with notable reductions observed in significant conditions such as neural tube defects and Down Syndrome.
Dr. Durhane Wong-Rieger, president of the Canadian Organization for Rare Disorders, discussed China's initiatives concerning rare diseases with CN. “China has made so much progress in genetics and genomics,” Wong-Rieger stated. “There are more gene therapy clinical trials in China than anywhere else in the world.”
For patients, early diagnosis is vital. Wong-Rieger emphasized that prompt treatment can prevent irreversible symptoms from manifesting. However, the challenges linked to rare diseases often extend beyond the medical realm, affecting entire families in emotional, social, and financial ways.
Moreover, experts are identifying an increasing number of rare diseases that affect older adults. This poses additional difficulties, as these conditions can sometimes be overlooked and attributed to the aging process, complicating diagnosis.
Mark B Thomas for TROIB News
China has achieved remarkable strides in this field, as Zhang Shuyang, president of Peking Union Medical College Hospital, shared with Xinhua during the 2024 China Conference on Rare Diseases in October. The average diagnosis time for rare diseases has been slashed from four years to under four weeks. Furthermore, medical costs have fallen by 90 percent, and public awareness of rare diseases has increased from 31 percent to 69 percent, according to Zhang.
Many rare diseases are often linked to congenital genetic factors and are closely associated with birth defects.
Yu Yanhong, an official from the National Health Commission of China, noted during the same conference that there are over 8,000 recognized birth defects, a number of which are categorized as rare diseases. In 2023, China recorded more than a 50 percent drop in both the infant mortality rate and the under-five mortality rate related to birth defects compared to ten years prior, with notable reductions observed in significant conditions such as neural tube defects and Down Syndrome.
Dr. Durhane Wong-Rieger, president of the Canadian Organization for Rare Disorders, discussed China's initiatives concerning rare diseases with CN. “China has made so much progress in genetics and genomics,” Wong-Rieger stated. “There are more gene therapy clinical trials in China than anywhere else in the world.”
For patients, early diagnosis is vital. Wong-Rieger emphasized that prompt treatment can prevent irreversible symptoms from manifesting. However, the challenges linked to rare diseases often extend beyond the medical realm, affecting entire families in emotional, social, and financial ways.
Moreover, experts are identifying an increasing number of rare diseases that affect older adults. This poses additional difficulties, as these conditions can sometimes be overlooked and attributed to the aging process, complicating diagnosis.
Mark B Thomas for TROIB News
