1. introduction
Rare refers to a rare genetic or developmental abnormality that occurs at birth or in infancy, affecting approximately 350 million people worldwide, with approximately 200-300 newborns diagnosed in Hong Kong each year. These diseases are often referred to as “rare diseases” because they have a low incidence (usually less than 1 in 10,000) and complex and varied symptoms.
The challenge of rare diseases lies not only in the difficulty of diagnosis, but also in the uneven distribution of medical resources. According to statistics from the Hong Kong Rare Disease Alliance, more than 60% of patients wait more than 2 years to be diagnosed, during which they may experience multiple misdiagnoses. In addition, the cost of treatment is high, many specialty drugs are not included in the drug formularies of public hospitals in Hong Kong, and families often have to pay hundreds of thousands of Hong Kong dollars out of pocket.
It is worth noting that the proper choice of study abroad insurance is especially important for the patient’s family. Many families in Hong Kong send their children to Europe or the United States for advanced treatment, but if their insurance does not cover pre-existing conditions, they may face huge medical costs. For example, the NHS in the UK can charge up to £2,000 per day for non-urgent overseas patients.
2. Rare species (example)
Williams syndrome(Incidence 1/7,500) Patients have a special “elf” face, accompanied by cardiovascular problems and extraordinary musical talent. According to a study by the Chinese University of Hong Kong, about 40 cases have been confirmed in Hong Kong, of which 85% had aortic stenosis.
Prader-Willi Syndrome(1/15,000) Patients suffer from insatiable hunger throughout their lives and need to control their diet. The Prince of Wales Hospital in Hong Kong has a specialist clinic that currently follows up about 30 patients, which requires a multidisciplinary team to manage metabolic and behavioural problems.
Rett syndrome(almost only in women, 1 in 10,000) causes a progressive loss of sexual motor function. The Hong Kong Rare Disease Foundation noted that although there are fewer than 20 known cases in Hong Kong, the diagnosis rate has increased due to the widespread use of genetic testing.
3. Rare Diagnosis and Challenges
The diagnostic dilemma stems from three main factors: high symptom variability (tuberous sclerosis can manifest as epilepsy, skin lesions, kidney tumors, etc.), lack of awareness among primary care physicians (only 12% of family physicians in Hong Kong are trained in rare diseases), and access to genetic testing. Even in Hong Kong, whole genome sequencing requires about HK$3 to HK$50,000 at your own expense, and waiting times for public hospital services can be up to 18 months.
For example, the cost of next-generation sequencing (NGS) in Taiwan is only 1/3 of that of Hong Kong, but attention should be paid to the language barrier and the difficulty of follow-up. Established in 2019 at the Hong Kong Children’s Hospital, the Centre for Genomic Medicine has shortened some tests to eight weeks and is working with Genomics England to improve its analytical capabilities.
4. Treatment and care for rare congenital diseases
Treatment needs to be highly personalized, taking mucopolysaccharidosis as an example, although enzyme replacement therapy (ERT) is currently available in Hong Kong, the annual drug cost can reach as high as HK$2 million, and only certain subtypes of patients can apply for Samaritan Fund funding. The waiting time for support services such as physiotherapy and speech therapy can range from 2 to 3 years.先天性疾病
A multidisciplinary team should include:
- Geneticist: monitor the progression of the disease
- Clinical psychologist: dealing with behavioral problems
- Dietitian: Design a special diet (e.g. low phenylalanine diet for PKU patients)
The best assessment of study abroad insurance should pay special attention to the following points:
- Whether to compensate for the recurrence of pre-existing conditions
- Local Affiliated Hospital Network
- Emergency Medical Evacuation Clause
For example, the BUPA International plan offers global coverage, but the premium is 3-5 times higher than general insurance in Hong Kong.
5. R&D of Rare Congenital Diseases
CRISPR, a gene-editing technology, has made a breakthrough in diseases such as spinal muscular atrophy (SMA). In a clinical trial of AAV gene therapy conducted by the University of Hong Kong and Shenzhen Hospital, motor function was restored in three SMA infants. However, new drug development faces commercial challenges, with only 5% of the world’s rare diseases having specific drugs, making it difficult to recover R&D costs.
The Hong Kong Science and Technology Park Biotechnology Cluster includes 23 rare disease pharmaceutical companies, including Amicus Therapeutics, which develops oral drugs for Gaucher disease. The government will allocate HK$100 million to establish a rare disease research fund in 2023 to prioritize regional translational research support.
6. Rights and Initiatives for Patients with Rare Congenital Diseases
Hong Kong’s 2021 Rare Disease Definition and Strategy Report puts forward 18 recommendations, including the establishment of a central registry system (currently by NGOs only) and the development of a drug subsidy mechanism (see Taiwan’s “Rare Disease Project” model). Legislative Council member Zhang Chaoxiong proposed to include 118 rare disease drugs in the safety net, increasing the budget by HK$360 million compared to the previous year.
The difference in the system of overseas medical visits is noteworthy: Singapore includes 34 rare diseases in Medishield Life, and the deductible for patients is only 10%. 331 diseases designated by the Intractable Diseases Act are eligible for medical expense subsidies. Hong Kong patient organizations promote cross-border medical cooperation, especially through referral mechanisms in the Greater Bay Area.
7. Expectations for the future
The University of Hong Kong predicts that with advances in genetic technology, the diagnosis rate of rare diseases will increase by 50% over the next five years. The Hong Kong Red Cross Society has established a support centre to provide respite care services and psychological counselling for families with special needs. The insurance industry has also started launching special products, such as AIA Rare Disease Intensive Care Plans, which cover 22 diseases.
The key is to build a sustainable ecosystem, from newborn screening (currently only covering 6 metabolic diseases) to cross-border medical cooperation (especially with genetic testing institutes in Guangdong province) to social inclusion education. Only by integrating medical, policy, and community resources can we shine a light of hope on this medical orphan group.