The challenges of living with a rare disease

Despite the challenges and struggles of life, the Lim family continues to strive forward and live happily.

Rare diseases are by their very nature obscure and unknown, falling through the cracks when it comes to research budgets and treatment development. Unfortunately, rare diseases don’t often get the attention they need because, well, they’re rare. We often thought the fact that rare equates to not happening. However, according to the dictionary, “rare” means “unusual.” Which means that, although unusual, it can still happen.

Misunderstood, overlooked and taken for granted

The word “rare” helps comfort our minds. Knowing that something is rare means the likelihood of it happening is miniscule. And we often have the mindset of dismissing it as something that will never happen. However, rare diseases and gene mutation around the world have shown proof that it can happen.

 One of such rare diseases is spinal muscular atrophy (SMA). It is a neuromuscular disease that takes away the ability to move, walk, eat, or breathe without assistance. According to WeCareJourney, an organisation that champions rare diseases in Malaysia, there are an estimated 500,000 babies born in Malaysia annually, and one in 10,000 babies is born with SMA each year.

A shocking experience

Recalling the shocking experience of discovering that his son was diagnosed with SMA Type One, Edmund Lim said he and his wife were devastated to learn that their second son could leave them at any given time. “We quickly did a research on what this meant for him, and it was traumatising to understand that most babies with SMA Type One could not survive past two years old.”

“Patients could lose the ability to move, eat, and even breathe by themselves, quite quickly. We were shocked that the effects could be so devastating,” added the 48-year-old father of two.

Since SMA is a rare disease, Edmund found it difficult to cope initially. “In the first week, we found a tonne of information on the internet about what we should be doing to manage an SMA child’s medical needs — highly complex and complicate, but extremely important to help him survive and cope.”

He also found it a struggle to seek help and support in Malaysia. “In 2011, just finding another family in Malaysia to talk to and share the experience was hard enough. The mental anguish of feeling helpless and hopeless to change things is indescribable,” said Edmund.

According to the founder of WeCareJourney, he and his wife only found out about their son’s symptoms when their baby couldn’t develop skills and reach babies’ milestones. Edmund said that his son Branden could not do what his older brother did in the timeframe. “After six months, he still could not lift his head when lying on his tummy. And when we carried him, he was floppy and weak in his body, arms and legs.”

Throughout the months of constant worry and medical visits, Edmund took Branden to a geneticist before his first birthday. “The geneticist helped us to shortlist a few possible causes, took blood samples, and sent them to the diagnostic labs.” And once Branden turned a year and a month old, Edmund and his wife received his diagnosis: Spinal Muscular Atrophy (Type One).

Nonetheless, the couple remained positive. Looking back at the letter they wrote in 2011, their understanding helped carry them forward. “Branden’s happy and positive nature gave us strength. Also important to us were the support and compassionate care provided to Branden by his medical team and also our family and friends. We cannot emphasise enough how important everyone has been to us, to help us overcome the many challenges we face coping with SMA,” they wrote.

A lifelong challenge

Edmund (far left), his wife (top centre), and Branden (bottom centre) in a family photo.

Patients diagnosed with SMA will have severe physical disabilities. That means that Branden depended fully on his parents for all his daily living needs. Sharing further, Edmund said the cycle starts the moment his son wakes up, “We need to change his clothes, brush his teeth, help him on the toilet, carry him to his wheelchair. When he sleeps, he needs our help to put him in a comfortable position and to adjust and turn him throughout the night.” 

But to Edmund, the ongoing challenge is to figure out how to do things better, to get what is best for both parents and son. “For example, when bathing, the bathroom needs to be disabled-friendly. The training for us to be safe for him and ourselves when carrying and bathing him, the safe and effective bathing chair that’s needed.

“It’s not so easy to find the right people who can help, and the right products and renovations, which are all very costly,” he further disclosed. Furthermore, with Branden growing taller and heavier each day, and as Edmund and his wife grew older, it gets more taxing over time.

A community challenge

The challenges did not stop there. As the founder and co-ordinator of WeCareJourney, Edmund often sees struggles and challenges faced by the SMA patients and their families. Edmund, along with panellists including senior director, global consulting, Axios International, Roshel Jayasundera and CEO of RARE Revolution Magazine, Rebecca Stewart, discussed the issue in a recent webinar hosted by Axios International.

As SMA is a rare disease among many others, getting a correct diagnosis can be difficult. Roshel shared her observation, “What we can see is that patients not only take time to find specialists, but these specialists are typically based in the capital, whereas patients can be from anywhere. Those in the rural areas will struggle.”

In addition to searching for a specialist, Roshel also shared that getting constant treatment is another difficult task. “A small number of patients means that medical treatments can be costly. We are not looking at yearly expenses, but a full course of treatment to sustain the patient.” 

Meanwhile, in a study done by WeCareJourney, Edmund found that the impact of SMA varies. Though it is known as one disease, the spectrum of symptoms is broad. Each person diagnosed with experiences it differently. Apart from that, the challenges also fall on the caregiver.

“It is not just physical. SMA also affects the mind. From issues such as anxiety, depression, stress, grief: indirectly impacting parents’ relationships, siblings’ relationships, and social relationships. And the list goes on.”

Though Branden was diagnosed with Spinal Muscular Atrophy, it did not stop the family from having an adventure in the open.

Edmund also laments the difficulties caused by a lack of funding to house the patient, social stigma, and a variety of other factors.

A need for awareness

“Because many people are unaware of rare diseases, there is a need to educate and raise awareness about them. We have to connect with the community, with the public, to understand more about rare diseases. We can only do that if we talk about commonalities such as access to medical expertise, education, working experience, and others,” said Rebecca.

Adding to Rebecca’s statement, Edmund said that talking about connecting entails a much longer context. “Many times, the SMA community not only needs to hear, ‘I am here to help’ but also, ‘I am here to listen’, and this is massive on its own.

“It makes a difference to know that there’s someone who can appreciate what you’re going through because not everyone can. Just being able to talk to one parent, without expecting a thousand solutions is not what we want. We just want a nod, an understanding of what we are going through,” said Edmund.

As the rare disease community is often marginalised, patients often suffer early mortality, and severe morbidity due to under-diagnosis, underfunding, and the persistence of many unmet needs. 

In an effort to raise awareness of rare diseases in Malaysia, Edmund, under WeCareJourney, has been advocating for all stakeholders to come to the table with patients and caregivers to understand each other, and then co-create ways to strengthen patient-centered care that improves the quality of life and reduces health disparities. “We can do better. Let’s not leave SMA families behind,” he added.

Spinal Muscular Atrophy may be considered a rare disease, but it is one of the most common rare diseases in the world. Photo credit: WeCareJourney

Spinal Muscular Atrophy

SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1).

This leads to missing neuron protein critical for nerve function and muscle control.

How is SMA inherited? : If both parents are carriers of SMA, there is a 25 percent chance that when they have a child, the child will have SMA.

Early symptoms?: When a child’s growth is delayed & has difficulty in:

• Holding head up
• Rolling over
• Sitting up
• Standing
• Walking

The different types of SMA?:

Type one —
• Age of onset is <6 months.
• This is the most severe form of SMA.
• Within the first few months of birth, baby may have severe muscle weakness, poor swallowing reflexes and breathing.
• 95 percent will not make it past their second birthday.

Type two —
• Age of onset is 7–18 months.
• Delay in meeting motor milestones, or failing to meet milestone entirely.
• Can sit up without help or with assistance, but unable to walk and require a wheelchair.
• Life expectancy may be shortened.

Type three —
• Age of onset is 18 months onwards.
• Children are able to stand and walk initially, but will grow weaker and many need to use a wheelchair.
• Chewing & swallowing may be affected later.
• Life expectancy is normal.

Type four —
• Age of onset is mid-30s onwards.
• Late onset, and similar to Type 3, but is less severe.
• Life expectancy is normal.

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