News from South China Morning Post for MPS IVa - OCC Forum

After two years of waiting with little hope in sight, a seven-year-old Hong Kong boy will continue to suffer the unbearable conditions of a rare disease that gave him a bell-shaped chest and deformed wrists and legs, unless he gets subsidised access to an expensive drug on a long-term basis.

A drug treatment that costs more than HK$2 million a year is Xiao Hiu-chun’s only hope to stop his condition from deteriorating due to the lack of a specific enzyme in his body.

But his hope remains distantas the city’s public hospitals have failed to strike a deal with a manufacturer on how to split the drug’s large financial cost to make it more affordable.

Born with a flared-out chest, Hiu-chun was diagnosed with Mucopolysaccharidosis type 4A at the age of three, and has only grown 2cm in the past five years.

His condition has deteriorated, and his wrists and legs have become deformed, leading to difficulties in writing and walking for long periods.

“I hope there could be drugs helping Hiu-chun soon so he won’t further deteriorate,” his mother Liu Yongfang said.

Dr Joannie Hui, a consultant for the Hong Kong Mucopolysaccharidoses and Rare Genetic Diseases Mutual Aid Group, said patients afflicted with the disease and not taking the necessary drug could develop more severe symptoms when they reach their teenage years.

“The ability to walk could be affected, and one might require the help of a wheelchair,” said Hui, who is familiar with Xiao’s case. “Heart and lung functions could also deteriorate.”

She said treatment from an early age could be more effective when the odds of irreversible damage are lower.

While the drug was registered in Hong Kong in June 2015, its pricing exceeds what the Xiao family can afford and it is not included in the public drug subsidy scheme.

It is understood the Hospital Authority hoped the drug maker, BioMarin, could share the drug cost for at least 10 years, as the boy would require a lifelong supply if the medication proved effective.

Cynthia Loo Sze-wan, of BioMarin’s Asia Pacific region, said the company was willing to split the cost for five years. But the plan, proposed in late July, was recently rejected by the authority, saying it was “far from their expectation”.

“It is impossible for us to go beyond five years,” Loo said. “We need to cover our manufacturing and research costs.”

An authority spokesman said negotiations with the drug maker would continue and he hoped to begin the boy’s treatment in a few months if there was a positive response from the company. But he added reaching a long-term medication arrangement was a factor to consider before starting any treatment.

“[The] provision of a drug for a limited time span does not fulfil a patient’s interests,” he said.

Labour Party lawmaker Dr Fernando Cheung Chiu-hung called on the city to set up a HK$20 billion fund to help patients with rare diseases gain faster access to expensive drugs. He said he would meet the health minister to discuss the proposal.

A Food and Health Bureau spokesman said individualised treatment plans would be formulated for patients with rare diseases. He added the government would continue to review existing mechanisms to ensure no one was denied adequate medical treatment.