I first met Long Hei, a 26-year-old Huntington's disease patient, during an interview conducted together with the Hong Kong Society of Rehabilitation; this interview profoundly impacted my perspective on rare diseases. Huntington's disease, a neurological disorder, causes progressive degeneration of brain cells, leading to severe physical and cognitive challenges. Long Hei experiences multiple symptoms, including difficulties with movement, speech, swallowing, and breathing. Despite trying various treatments, including his mother's dedicated efforts with Chinese medicine, his condition continued to progress, eventually requiring special nutritional supplements due to significant weight loss.

 

Long Hei's story is particularly moving due to the compounded challenges he has faced beyond his medical condition. Diagnosed at an unusually young age, he lost his father, who also had Huntington's disease, early in life. Following his father's death, Long Hei and his mother faced rejection from their extended family, including disturbing threats from his uncle. The situation forced them to leave their family home. Their struggles intensified when Long Hei's sister developed mental health issues, eventually cutting all contact with the family. His mother, serving as his primary caregiver, had to juggle multiple jobs before ultimately leaving work to care for Long Hei full-time as his condition worsened.

 

The discrimination Long Hei faced extended into school. A particularly painful incident occurred during a school presentation when his teacher publicly humiliated him, calling him "useless" and suggesting he had "severe problems" due to his difficulty speaking - this before he was even formally diagnosed. His story illustrates the broader challenges rare disease patients face: not just medical complications, but also social isolation, discrimination, and lack of support.

 

Long Hei's experiences demonstrate that improving the lives of rare disease patients extends beyond medical treatment. His story highlights the crucial need for greater social awareness, acceptance, and support systems for individuals affected by rare diseases. It shows how community understanding and inclusion can significantly impact the quality of life for patients like Long Hei who face both medical and social challenges.