“Seek medical treatment whenever illnesses strike” is a golden principle known by all, yet, there are still patients in Hong Kong afflicted by diseases which are difficult to diagnose. In return for spending large time diagnosing such diseases, they only discover that such diseases are out of the depth of doctors and get a conclusion of “It is untreatable at the current state.” These patients are suffering from “Rare Diseases”.
According to the criteria set out by the World Health Organisation, there are only six to ten cases of rare diseases in every ten thousand people. America, EU, Japan and even Taiwan all define domestic rare diseases in line with similar criteria. However, rare diseases have never been defined in Hong Kong, hence the lack of corresponding health care arrangements, such as pharmaceutical research and development, funding support, and comprehensive treatments. Therefore, patients with rare diseases in Hong Kong can only explore and seek treatment options suitable for them in the ordinary health care system.
The parents of TAM Wing-hang (Hang) noticed Hang’s health conditions were different from those of other children when he was six-month-old. Thus, they spent months to find out from a doctor that their son was suffering from a rare disease – “Spinal muscular atrophy (SMA)”. The muscles on Hang’s hands and legs have been weak since his childhood, limiting his mobility, for which he can only live in wheelchairs. He needs to rely on his family for everything, and even needs assistance from his maid for daily activities. However, he still leads a positive life. Not only did he endeavour to enter the university, but he also does respiratory exercises every day to stay healthy in the hope of the appearance of new medicine.
Now, Hang is studying in his fourth year of Theology at the Chinese University of Hong Kong. Since his freshman year, Hang has been learning to live independently. He insisted on leaving his parents and living in the host
「病向淺中醫」是人所共知的大道理，可惜香港卻有一小撮病人，患上一些難以確診的疾病，有些甚至要花上數年時間，待確診病症後，卻發現醫生對病症也策手無策，只得到一句：「現階段無藥可醫」的結論；因這些病人，是患上了「罕見病」。
根據世界衛生組織的標準，每一萬人當中，只有六至十個個案的疾病，便定為罕見病。美國、歐盟、日本以至台灣，都以相近的框架，為當地的罕見病作定義。然而，在香港從未有為罕見病設下定義，所以亦欠缺相應的醫療安排，例如：藥物研發、資助、綜合診治等等。香港的罕病病人，便只能在一般的醫療體系狹縫中，摸索、找尋適合自己的治療方案。
阿亨（譚永亨）的父母在他六個月大的時候，察覺他有異於其他小朋友，花了多個月的時間，才從醫生口中得悉兒子患上「脊髓肌肉萎縮症」（SMA），是罕見病的一種。自小，阿亨的手腳和肌肉都無力，活動能力有限，令他只能在輪椅上生活，大小事都由家人照顧，甚至連自理也需要傭人幫忙，但他仍然積極生活，除了努力考上大學以外，他亦每天做胸肺呼吸運動，保持身體健康，希望能等待到新藥物出現的一天。
現時，阿亨在中文大學修讀神學四年級，從一年級開始，他便學習獨立生活，堅持離開父母，與家傭住在大學宿舍，為將來投身社會作準備。對他來說，能在大學校園讀書、生活，與同學相處、玩樂，嚐到平常人的尊嚴，已足夠讓他感到快樂！
