Spinal muscular atrophy (SMA) is a neuromuscular disorder characterised by the loss of muscle mass and motor neurons that leads to a gradual loss of physical abilities. Patients suffering from SMA often face difficulties in daily life, i.e. carrying out necessary motor actions, such as walking or breathing – and they often pass away at a significantly younger age.

While the new drug, Spinraza, was approved by the US Food and Drug Administration (FDA) in December last year, it has yet to be introduced to the Hong Kong market. Yet, in light of an open letter by a 23-year-old patient – a SMA sufferer, who is almost completely paralysed – Hong Kong’s Chief Executive Carrie Lam has made the pledge to “personally” ensure that SMA patients are able to gain access to the drug as quickly as possible.

Carrie Lam commits to deliver promise—“see to the matter, personally”

In a statement made on her Facebook page on Saturday, the Hong Kong leader has made a personal pledge to “personally” ensure quick access to treatment, in response to an open letter by paralysed 23-year old SMA patient, Josy Pui-shan Chow.

In her response, Lam expressed her concerns and personal promise to improve the plight of those suffering with SMA. As echoed on her Facebook post, she expressed, “Dear Josy, thank you for your open letter to me today. Once again, I express my concerns for you and patients like you who suffer from SMA, and your anxiety waiting for the introduction of the new drug.”

“The Secretary for Food and Health has already contacted the drug manufacturer and I will see to it personally. Please rest assured that we will put in our best effort.”

In a follow-up to Lam’s statement, the Undersecretary for Food and Health, Dr Tak-yi Chui once again announced that the government had met with the pharmaceutical company and is working to make the drug available in Hong Kong soon. There is no timeline for the HKD6 million-dollar treatment thus far.

The plight of the needy

Josy Chow with her mother. Chow is almost completely paralysed and could only type with two fingers on her right hand. Photo credit: SCMP
Josy Chow with her mother. Chow is almost completely paralysed and could only type with two fingers on her right hand. Photo credit: SCMP

The impetus for change and the voice of the unheard came from the sole letter of Josy Chow, who was born with SMA. Having been afflicted with the condition throughout her entire life, Chow is almost completely paralysed. She has to rely on an assisted ventilation to help cope with her breathing difficulties.

Yet, with only two fingers, Chow wrote a proposal calling for Spinraza to be made available in the Hong Kong market – a drug that could potentially save the life of her and dozens of other SMA sufferes in the city.

While the task of writing a petition may not sound like much, it is incredibly arduous for SMA patients such as Chow. Using only her right thumb and right index finger on a special mouse pad, Chow typed out the petition one word at a time. At best, she could only write four to five words a minute, and would need to rest for five to ten minutes between lines.

“It is really tiring to write with two fingers only... but I don’t want other children [in a similar condition] to experience the hardship I have had growing up,” expressed Chow.

Over the course of three months, Chow typed out a 22-page long report with over 100 pages of appendix. If the petition is approved, it may signal the start of brighter days for patients suffering from SMA especially those suffering from the most severe form of the condition.

“New hope” in drug trials

The fact that Spinraza has not been made available in Hong Kong is in and of itself rather puzzling, considering that three SMA patients were selected to be part of the multi-centered study of the new SMA medication.

Marketed as Spinraza, the drug, Nusinersen, increases the production of survival motor neuron and are injected directly into the spine. This protein is extremely crucial in SMA patients as they do not have enough of the protein leading to fatal muscle wasting.

Following success in trial, was finally approved by the FDA in December and was described by experts as an “exciting time” for patients of SMA. Yet, close to a year since its approval, Spinraza is nowhere to be found in the Hong Kong market. That is until, Josy Chow spoke up and the rest of the city noticed.

In Hong Kong, there are an estimated 85 SMA patients, with 20 of them suffering from the most severe form of the condition. For those with the disease, the approval of the potentially life-saving drug is everything and more that they could ever have hoped for. Through the plight of one young girl and her valiant effort to form a petition, the fate of those suffering with SMA in Hong Kong may soon see that glimmer of hope. MIMS

Read more:
The lack of rare disease policies in Hong Kong and what we can learn from Taiwan
Drug tourism in Hong Kong and China: Why are patients travelling to India for life-saving treatments?
Should the Hong Kong government subsidise drugs for tuberous sclerosis complex (TSC) patients?