When Our Children Suffer from Mucopolysaccharidoses (MPS) or Rare Genetic Diseases…

1. Despair and Helpless – There is No Cure

When we were told that our children suffered from MPS, our first feelings were despair and helplessness. All our hopes in life were gone; as, 20 years ago, the diseases were incurable.

2. Hope? Treatment is Possible!

At last, drugs for MPS 1 were developed in 2003. We thought we finally saw the light at the end of the tunnel.

3. Despair Again – Treatment is Too Expensive. It is Beyond Our Reach.

Who would have expected the extremely high cost of treatment? The annual cost for treating a 20kg MPS 1 patient was over HKD1 million. As for MPS 6, the annual expenses could even reach HKD4 million. For most people, it was not affordable; there were just too few patients in the world to share the costs. Of the 4,000 MPS 1 patients in the world, only about 1,000 were MPS 6 patients. Medication has to be taken for life, so it was not like we could just sell an apartment or a car to settle the payment. Even if we could, the money would only be barely enough for one or two years’ treatment. After that, we would have to apply to the Comprehensive Social Security Assistance Scheme for financial aid. Do we choose money or medication? Our hopes were dashed, again.

4. The Public’s View (Positive)

The public was sympathetic to us because of the costly medicine. Not even a multi-millionaire could afford such lasting, high costs, so how could ordinary parents like us? We could not make it through fundraising every year. Therefore, the government was the only one who could help. In fact, in other countries, this kind of medical expenses is usually paid by the government or by medical insurance.

5. The Public’s View (Negative)

We have also heard some people say that they would rather spend one million dollars to save 10 patients who need HKD100,000 each, rather than to save only one person. We can only say: life is priceless. You can never calculate life like this. If we applied the same logic, would it be better to spend one million dollars on 100 patients who need HKD10,000 each, or 1,000 people who need HKD1,000 each? Calculations like these would only mean that, at the end of the day, no one is going to be saved.

6. Hope Again – Government Funding Treatment

In the 2010-2011 Budget, drugs for rare genetic diseases were incorporated into the Hospital Authority Drug Formulary. These included Enzyme Replacement Therapy (ERT) drugs, used for treating Pompe Disease, Gaucher’s Disease, Fabry Disease and MPS 1, 2 and 6. The government is funding our medication fully from now on.

7. Rejoice Too Soon – System for Automatically Incorporating Orphan Drugs into the Drug Formulary Still Pending

We are grateful that technology has shortened the time it takes to develop and manufacture new drugs, resulting in more new drugs becoming available. For instance, the drug for MPS 4 was developed and manufactured last year (MPS can be categorised in MPS 1, 2, 3, 4, 6, 7, and 9). But we rejoiced too soon, as the government did not incorporate the drug into the Drug Formulary instantly. As a result, patients could only wait while we come together and fight for the drug’s incorporation, again. As for another registered drug used for treating Atypical Hemolytic Uremic Syndrome, another rare disease, it also costs over HKD 300 million per year, and it is still not included in the Drug Formulary.

8. Newborn Screening Should Include Rare Diseases, Especially Those Where Treatment is Available, Like MPS

The government will soon be providing newborn screening to all Hong Kong infants, to detect problems early on and provide immediate medical assistance, which is crucial to disease management and patient wellbeing. However, we are very disappointed that the screening will not include MPS 1, Pompe Disease, Gaucher’s Disease and Fabry Disease. We hope that all disorders that can be screened by today’s technology can be covered, so as to save resources down the line.

Early treatment is essential to healing efficacy and disease management. An MPS patient was once denied ERT by the Hospital Authority’s Expert Group, because his diagnosis came too late, and his body was already too severely damaged for ERT to be effective. The patient lost his slightest hope, as he did not get the treatment he deserved. If we could detect infants’ diseases earlier and provide patients with the required medication, tragedies like this could be avoided.

Compared to other areas, Hong Kong has fallen far behind in terms of Inborn Errors of Metabolism (IEM) screening. Many countries and regions overseas have already adopted and established IEM screening policies. Although we are glad that the Hong Kong government has taken the first step, we are still disappointed and concerned about the government’s conservative attitude towards IEM screening.

If we compared policy implementation to television production, television manufacturers nowadays have to produce the latest models of LED colour televisions instead of only the traditional black-and-white CRT ones. Likewise, the government should implement policies that keep pace with the times, and incorporate all illnesses that could be detected by today’s technology into the list of disorders it screens. This will not only bring great benefits to the patients and their families, but also positively affect Hong Kong’s medical development and its image. Hence, we urge the government to take our demands seriously.

9. Implement a Rare Disease Policy and Let the Patients Get Medication Immediately

In the long term, the government must implement a rare disease policy, so that patients can receive timely medical treatment. This will also allow patients to live a decent, meaningful life despite their diseases.

(Translated by: LEUNG Hoi Ling, Year 2 Student, Department of Translation, Lingnan University)

(Updated: November 2015)