On 21 September 2007, our group has submitted 3 medically urgent cases of rare genetic diseases to the Legislative Council Complaints Division to lodge a complaint for the absence of the drugs that our patients need. Although the HA was willing to sponsor and treat for 2 patients with Pompe Disease at that time, they rejected the application of the MPS patient to use the drug treatment, based on the “reasons” that “most of these drugs were developed only a short while ago”, “the price is extremely high”, “there is no solid scientific data to prove their efficacy”, and its consideration of “whether the patient has become irreversibly sick”. Thus, since August 2008, we have been following up with HA’s internal panel, the Expert Panel on Rare Metabolic Diseases (hereafter called “Expert Panel”), as well as the Legislative Council Complaints Division on the application for MPS patients to use drug therapies (i.e., specifically, to use enzyme replacement therapies).

On the other hand, in April 2008, we were promised free-of-charge treatment for 3 patients for one year by the drug manufacturer for the therapy of MPS type VI. When we told our attending doctors the news and requested for our sick children to use the drug, the doctors gave no response. After understanding that the doctors (in public hospitals) could not do anything until HA has granted approval, in October 2008 we sent a formal letter to the Attending doctors to request for using the therapy. The doctors’ reply came in November 2008, that the matter was in the hands of HA’s Expert Panel for follow-up and response. In mid-January 2009, the Expert Panel replied, that time is necessary to set up and endorse a set of assessment criteria for MPS VI so as to guide the Expert Panel in examining applications to drug use and the clinical condition of patients.

We believe that these so-called "reasons" by the Government are not factual, and showed that the authorities ignore the needs of patients. We suspect that the delay in the treatment approval of MPS patients was due to the concern that the drug would be shown effective after one year of administration, and the Government would need to pay for future treatments.

Here are our responses to the Government’s “reasons” to refuse medication use for our patients:

In response to “Reason 1” --- majority of these drugs was developed only a short while ago”:

The drug for treating another rare genetic disease – Pompe Disease – has been available since 2005, but the treatment for MPS VI has been available on market in 2002. HA had approved and funded the treatment of Pompe Disease patients. Its current rationale to refuse MPS patients based on the drug being developed only a short while ago appears contradictory.

In response to “Reason 2” -- the price is extremely high:

One may doubt, is it worth spending hundreds of thousands of dollars to treat a person?

Treatment costs are expensive for a lot of diseases. For example, the drug treatment of cancer patients can easily go beyond several hundred thousand dollars. However the Government is willing to bare such costs. Perhaps such bias exists because a far greater number of patients suffer from these other diseases? What’s more, in regard to funding medical treatment, is monetary value the yardstick for a government that ought to safeguard the wellbeing of all its citizens? Isn’t the value of life more important than money?

Our patients are unfortunate to be born with these rare congenital diseases. But no one will ever know whether the next patient diagnosed with this kind of disease will be the son or daughter of the doubtful person who asked why to spend so much money to treat our son and daughter. Will they say the same then?

In response to “Reason 3” -- no solid scientific data to prove their efficacy:

Using the drugs that target MPS as an example, many foreign governments, such as the United Kingdom, the USA, Australia, South America, Eastern Europe, Japan, Korea, Taiwan and Macau, have already set up effective approval and funding mechanisms for their patients with rare genetic diseases based on drug efficacy and data. As many governments already had adequate scientific data, why did the Hong Kong Government ignore the relevant data? As the funding mechanisms overseas were proven effective, why can’t our government take them as reference?

On the other hand, in response to Legislative Council’s questioning, HA argued, "Different countries have different health care systems... it would not be appropriate to compare in general." With the same logic, if relevant mechanisms should not be directly compared to by the government, then shouldn’t the drugs imported to Hong Kong for sale based on approval by overseas regulatory mechanisms be actually barred? Is the Government holding a double standard on this issue?

In response to “Reason 4” -- consideration of whether the patient has become irreversibly sick:

HA pointed out that they would first need to assess whether the patients' medical conditions are irreversible, before deciding whether to grant approval and funding to drug use. But what is the definition of "irreversible"? Who will determine this? After using the therapy, although many patients do not experience miraculous improvement, their physical conditions, survival rate and quality of life are improved. For example, patients no longer need a ventilator, their joint mobility are improved, and their liver and pancreas can be returned to normal size and function.

Although the therapy cannot completely cure them of the diseases, their suffering is lessened and they can even try to enjoy life a little more. Why can’t the financially-adequate Government approve and fund their treatment to lessen their pain, to open a window of hope amidst their short and difficult life?

In response to “Reason 5” -- needs time to develop the approval mechanism:

HA’s Expert Panel expressed that they needed time to develop the mechanism for approving patients to use the drugs. Our patients do not have any life threatening situations, however, most patients have been suffering from the diseases for over 10 years, or are facing deterioration of their body systems. If delayed further, we are afraid that they will pass away while awaiting HA’s approval for therapy. Would such “no treatment” be HA’s policy?

With respect to the applications submitted in 2008 for 3 children with MPS VI to use ERT, one of them has unfortunately passed away in early 2009, leaving only 2 children now suitable for ERT for MPS VI. Finally, after years of efforts and hard work, we received good news from HA on 15 May 2009, which was “International MPS Day” and the day after our hosting of the 2009 Asia-Pacific MPS Conference, that the 2 children with MPS VI were approved to use ERT. HA will enter them into a one-year research trial, with the enzyme sponsored by the drug company, in hopes of stabilizing their cardiorespiratory functions and preventing their condition from getting worse. The 2 children have begun receiving their ERT treatment in July, visiting the hospital for intravenous injection of 4 to 5 hours every week.

This is a small step forward by Hong Kong for MPS patients!

As for other patients, for example, 2 out of the 3 patients with MPS I are suitable for ERT. After our discussions with the drug company that provides the enzyme for MPS I, the 2 patients were promised ERT sponsorship for half a year each. In addition to the help of many kind-hearted donors over these 2 years, we have secured sufficient funds for both of them to receive a full year of ERT.

The enzyme to treat MPS I was the first ERT treatment available to patients, with evident efficacy overseas. Since the 2 children with MPS VI can receive ERT, it only makes sense for the 2 children with MPS I, who are younger and with less severe illness, to receive treatment as soon as possible. ERT can help prevent their health from getting worse or leading to other problems, such as weaker heart and lung functions and rigid joints. Yet, as long as HA does not approve them for using ERT, they cannot begin treatment.

We sincerely hope that all patients will receive appropriate drug therapies as soon as possible. HA neends

We sincerely hope that all patients will receive appropriate drug therapies as soon as possible. HA needs to ratify all patients’ therapeutic needs as soon as possible.