I was privileged to recently meet a group of patients living with rare diseases and their families. Rare diseases, as anyone in that community will tell you, are often the last of the last.

The journey towards getting effective treatment can often be long and desperate. It can also be a lonely one. The brutal reality is that treatment for those with rare diseases has often be seen as an afterthought and even a luxury in national health systems.

Anywhere around the world, rare diseases which are defined by the World Health Organisation as any disease which affects a small percentage of the general population, represent enormous challenges for patients, their families and countries.

Around 80% of rare diseases are genetic. Some are life-threatening while others are responsible for chronic and debilitating conditions. Three-quarters of affected patients are children.

The Malaysian Rare Disorder Society defines a disease which affects less than one per 4,000 in the population as a rare disease. More than 16,500 out of 550,000 babies born nationwide have congenital abnormalities. Most are rare diseases.

There are about 7,000 different illnesses under this classification. Only around 200 actually have some form of treatment.

Spinal muscular atrophy, Marfan’s Syndrome and haemophilia are just some of the rare diseases currently known and present in Malaysia. We don’t know how many people in total are living with a rare disease in this country as there is currently no common national registry in place.

What we do know is that with a healthcare system that continues to be overburdened and stretched in its existing capacity by an ageing population, increasing incidence and burden of non-communicable diseases and limited resources, ensuring that rare disease treatment needs are addressed to is an uphill battle.

For a patient living with such an illness, every day is a fight just to be counted.

There are enormous challenges. Too many of these illnesses have significant unmet medical needs.

Sometimes the rare disease is not even recognised, leading to issues and obstacles in applying for welfare assistance and securing insurance and Socso coverage.

It is inspiring to see that amid the heartache, sadness, confusion and frustration, patients and families continue to be persistent, determined and resilient in their fight to get the right diagnosis, the correct information about the disease, and most importantly secure the treatments needed.

But when and where treatments exist, they are often expensive and place enormous financial strain on households and health systems.

At least half of known rare disease patients in the country are currently receiving some form of treatment. Most of this is due to the existing enzyme replacement therapies available in the public healthcare system and the treatment access programmes established through public-private partnerships.

Discussions on healthcare can be extremely polarising, turbulent and time-consuming.

Sometimes because of the preoccupation with the economics, rhetoric and politics of treatment access, we lose sight of the individual patients who comprise these statistics: the very people who need our help.

It is convenient to navel gaze, demonise and cast blame when we should instead be focusing on those whose lives are directly affected by these diseases. We need to assist them, their families and caregivers in ensuring that they are able to gain access to the best possible treatment options with whatever means are at our disposal.

Patients, whether living with cancer, a rare disease or any other ailment, need solutions now so that they can get a chance to live their lives today. They can’t afford to wait for ideal conditions.

Waiting for years or even decades to pass for suitable generics or biosimilars to become available isn’t an option. Telling them to be patient is not a panacea either.

Innovative treatment access programmes through public-private partnerships have been one of the few ways to bridge this gap between expensive life-saving treatments and patients. They have become lifelines to the latter and their families which has saved and extended lives. Where there was only despair and hopelessness, for those fortunate enough to be enrolled there is now hope for a possible future.

But these programmes are limited and sometimes conditional. They are accessible to only a few thousand patients, not sustainable in the long run, and dependent on many factors including goodwill. These are not solutions but stop-gap measures.

One of the contributing factors to why out-of-pocket payments (78% in the private sector) have spiralled to backbreaking levels is the cost of drugs. The cruel reality is that, without some form of assistance, many of these innovative drugs which are usually needed for life-long treatment are out of reach for most Malaysian households.

It is heart-breaking that the current mechanisms for healthcare financing result in either patients being able to be treated for a limited period of time or not being able to get any help at all.

Some patients even make the heart wrenching decision to not subject their families to financial hardships and actually drop out of treatment. This often means that lives are shortened and lost. No one should be forced to make that kind of decision.

The pharmaceutical industry must rise to the challenge of helping and work towards ensuring fair and reasonable prices for Malaysian healthcare to access such life-saving drugs.

We need to do better.

Azrul Mohd Khalib is the founder and CEO of Galen Centre for Health and Social Policy.

The views expressed are those of the author and do not necessarily reflect those of FMT.