In the busy heart of Hong Kong, where efficiency and speed are often celebrated, there exists a community that fights a very different kind of race. It is not a 5K run with a cheering crowd and a medal at the finish line. It is a silent, daily marathon against time, misdiagnosis, isolation, and financial ruin. This is the reality for patients with rare diseases and their families.
As the Step Forward Crew prepares to launch its annual charity sports day, this year’s focus turns to a cause that is often invisible yet urgently present: Rare Diseases. While the event will feature sports activities and a festival atmosphere, the deeper purpose is to build a platform for sustained, youth-led social issue engagement. To truly step forward for this community, we must first understand the science, the struggle, and the solidarity required to support them.
What Exactly is a Rare Disease?
When we hear the term “rare disease,” the instinct is to think of something distant, something that happens to “someone else” in a faraway country. However, the definition of “rare” is more complex than the word suggests. According to medical standards, particularly in the context of Asian healthcare systems like Hong Kong’s, a disease is classified as “rare” if it affects a very small percentage of the population.
Globally, definitions vary. In the United States, a disease is considered rare if it affects fewer than 200,000 people. In the European Union, it is defined as affecting fewer than 1 in 2,000 citizens. In Hong Kong and mainland China, a rare disease is typically defined as one with a prevalence of less than 1 in 500,000 (or 0.002%) for specific diseases, or one that affects fewer than 200,000 people nationwide.
However, numbers can be deceiving. While a single rare disease is uncommon, the sheer number of different rare diseases is staggering. There are over 7,000 identified types of rare diseases worldwide. They range from metabolic disorders like Pompe disease and Fabry disease to neurological conditions like Spinal Muscular Atrophy (SMA) and pulmonary conditions like Pulmonary Arterial Hypertension (PAH).
Approximately 80% of rare diseases have a genetic origin. This means they are caused by mutations in a person’s DNA. These mutations can be inherited from parents who are “carriers” (often unaware they carry the faulty gene) or can occur spontaneously (de novo mutations). Because they are genetic, these diseases are often chronic, progressive, degenerative, and life-threatening.
In the pharmaceutical industry, treatments for rare diseases are known as “orphan drugs.” This is because the commercial market for these drugs is so small that pharmaceutical companies have little financial incentive to develop them. It costs an average of over US$1 billion to bring a drug to market. If there are only 500 patients in the world who can buy it, the return on investment is non-existent without government subsidies or charity funding. Consequently, for 95% of rare diseases, there is no approved treatment or cure.
The Long Road to Diagnosis
For a healthy person, a diagnosis might come after a single visit to a general practitioner. For a rare disease patient, the journey to simply name their enemy is often a years-long odyssey.
The Hong Kong Alliance for Rare Diseases highlights the concept of the “Diagnostic Odyssey.” On average, a rare disease patient visits 7 to 10 different specialists over the course of 4 to 8 years before receiving a correct diagnosis. Imagine having a mysterious illness — chronic pain, muscle wasting, sudden fainting, or inability to gain weight — only to be told by doctors that “it’s just stress,” “you’re overthinking it,” or “we can’t find anything wrong.”
In Hong Kong’s fast-paced public healthcare system, where waiting times for specialist clinics in the Hospital Authority can stretch for months, this journey is particularly cruel. Patients bounce between orthopedic surgeons, neurologists, cardiologists, and psychiatrists. By the time a genetic test is finally ordered, the disease may have already caused irreversible damage.
For example, in Fabry disease, a buildup of a specific type of fat in the body’s cells leads to kidney failure, heart attacks, and strokes. By the time a patient gets a diagnosis, their kidneys might already be failing.
The Weight on the Family
Once a diagnosis is finally made, the relief of having a name for the enemy is short-lived. It is quickly replaced by the crushing reality of living with a rare disease. The difficulties are not limited to the patient — they impact the entire family unit.
The Financial Abyss
The financial abyss is arguably the most immediate and devastating difficulty. In Hong Kong, while the public healthcare system is subsidized, it is not free. Rare disease treatments are often “self-financed items” (SFI) or require applications to the Community Support Fund.
Consider Spinal Muscular Atrophy (SMA). For years, there was no treatment. Then came gene therapy — a single dose of a drug like Zolgensma costs approximately HK$20 million. While the Hong Kong Hospital Authority has negotiated entry for some drugs into the drug list, the process is slow and families must navigate through a complicated application process in order to be eligible.
Other treatments, like enzyme replacement therapy for Fabry disease or PAH medications, require lifelong administration. A single month’s supply of medication can cost tens of thousands of dollars. Families often sell their homes, drain their retirement savings, or rely entirely on charity.
Caregiver Burnout
Rare diseases are often degenerative. A child diagnosed with a metabolic disorder may be perfectly healthy at birth but gradually lose the ability to walk, eat, or breathe. Caregivers — usually parents — become 24/7 nurses. They must learn to operate ventilators, feeding tubes, and mobility equipment. The physical exhaustion leads to “caregiver burnout.” In many cases, one parent must quit their job entirely to care for the patient. This creates a double financial hit: the family is losing a salary while gaining massive medical bills.
Social Isolation
Many patients face social isolation due to the many complications they face on a daily basis. Hong Kong is a city built on stairs, narrow sidewalks, and crowded MTR stations. It is not disability-friendly by default. Children with rare diseases often cannot attend normal schools because the school lacks a lift or a sick room. Peers bully them because they look different or move differently.
How to Offer Support
Knowing the facts about rare diseases can feel overwhelming. You might ask yourself, “I am just one person. What can I really do?” The answer is: more than you think. Supporting the rare disease community does not always require a medical degree or a large bank account. It requires empathy, education, and action.
Emotional Support
The most immediate and accessible form of support is simply showing up. Rare disease patients and their families often report feeling invisible or forgotten. Friends drift away because they don’t know what to say. Neighbours avoid the topic because it feels uncomfortable.
- Listen Without Judgement: Sometimes, a caregiver doesn’t need advice or solutions. They need a safe space to cry, or to sit in silence. Offer a cup of water and an open ear. Avoid phrases like “Everything happens for a reason” or “Stay positive.” Instead, try: “That sounds incredibly hard. I’m here for you.”
- Include, Don’t Pity: Invite the family to social gatherings, even if you know they might decline. The act of being invited matters.
Practical Daily Support
For a family managing a rare disease, daily tasks that seem simple to a healthy person can feel like climbing a mountain. Practical help is often more valuable than sympathetic words.
- Childcare and Sibling Support: Healthy siblings of a rare disease patient often feel neglected or burdened. Offer to take them to a park, a movie, or an afternoon activity. This gives the siblings a sense of normalcy and gives the parents a few hours of reduced responsibility.
- Transportation and Errands: Hospital visits are frequent and exhausting. Offer to drive the family to an appointment, pick up prescriptions from the pharmacy, or run basic errands.
Financial Support
While no single donation can solve the systemic problem of high drug costs, collective financial support can provide critical relief.
- Direct Donations to Patient Support Organizations: Look for charities that provide direct financial assistance for medical bills, equipment purchases (like wheelchairs or ventilators), or travel costs for specialized care.
- Crowdfunding Campaigns: Many families turn to online fundraising platforms to cover out-of-pocket medical expenses. Sharing these campaigns on your social media costs nothing but can dramatically expand their reach.
Crossing the Line Together
The Step Forward sports day is, on the surface, a day of running, sports activities, relay races, and festival fun. But beneath the surface, it is an opportunity for change. It converts footsteps into funding and fosters awareness.
A rare disease patient cannot wait five years for a government policy to change. A caregiver cannot wait for a pharmaceutical company to lower prices. But they can attend a sports day where the course is accessible, the crowd is friendly, and the proceeds go to keeping them alive.
By participating in the race, by buying a snack at the vendor fair, by stopping at an information booth, or simply by showing up to cheer, you are not just attending an event. You are stepping forward into the struggle. You are saying, loudly and affirmatively, “You are not alone. We see you. We will run with you.”
That is the promise of Step Forward — and that is how change begins.