Caring for a child with a lysosomal storage disease (LSD) presents unique emotional, physical, and logistical challenges.
From managing complex treatment plans to navigating the uncertainty of rare conditions, parents often find themselves on a demanding and deeply personal journey.
In this conversation, we’re joined by Dr Ngu Lock Hock, Head of the Genetics Department, Clinical Geneticist, and Paediatrician at Hospital Kuala Lumpur, who will shed light on the medical aspects of LSDs.
We’ll also hear from a parent who has walked this path, offering insights from their lived experience of caring for a child with an LSD.
Question 1: What treatment options are available for families managing LSDs?
LSDs is what we call a multi-organs systemic disease, so it involves many organs.
It requires either specific treatments or and at the same time, a lot of supportive treatment.
Specific treatment is in the form of Enzyme Replacement Therapy.
So, we know that each LSD is because they lack in certain lysosomal enzyme. To overcome or treat the underlying root cause, we need to replace the missing enzyme.
This is called Enzyme Replacement Therapy. It is given through intravenous infusion either every week or every two weeks, depending on what type of LSDs.
Different LSDs need a different type of enzyme replacement.
On top of this, they also need other supportive treatment, in the form of surgery.
For example, some patients have hernia. So, they will need hernia repair.
They may have bone fracture, which will require prosthetics and surgery. Middle-ear effusion, that will require certain procedures.
At the same time, they also require some other aspects like, good nutrition, dietary management, speech therapy, physiotherapy.
If they have heart complication, they need to see the cardiologist to treat heart failure, and things like that.
It’s a combination of a lot of things. It is fairly complex, multi-disciplined. It’s a combination of many specific and supportive treatment.
Question 2: How accessible is ERT for families in Malaysia?
Enzyme Replacement Therapy, or ERT, is currently available in more than 40 countries.
Mostly are those high-income countries, but some middle-income countries have it too, including Malaysia.
Most of these Enzyme Replacement Therapy products are actually registered in Malaysia – with our drug control agency.
And there’s a way to access it. Even those that are new products.
They are unregistered, but we still can access it through a special approval by the Director General of Health.
Compared to many other middle-income, low-income countries, we are in the a fairly good position in accessing all these ‘orphan drugs’.
Question 3: What specific systems are in place for patients in Malaysia to access ERT?
One thing about ERT is they are very costly.
So, usually the caregiver or parents, they couldn’t afford it out-of-pocket. It’s beyond the average household.
In other countries, it is funded by the government through their public healthcare system. So, we do have support from our government.
In fact, our first Enzyme Replacement Therapy started in 2006, almost 20 years ago. It was our first patient.
So, currently, our government over the years have continuously supported this treatment through the annual budget.
The number of patients has actually increased to almost like 50 to 60 patients.
First, they need to get the correct diagnosis by any other of the hospitals, either a MOH hospital or university hospital or even a private hospital, through some proper enzyme genetic testing.
Once they have confirmed the diagnosis, usually they will refer to the Genetics Department at HKL, where we are the national referral centre.
We will assess case-to-case basis, and as long as we have enough budget, we will support the treatment. Because this is life-saving.
Question 4: What are your hopes for the future of the ERT access in Malaysia?
Of course, we have achieved remarkable milestones but there is still a long way to go.
We will need to be able to diagnose patients at the earliest stage of their disease.
The earlier you start the treatment, the better the outcome.
Because once they develop all these disease complications, sometimes it becomes irreversible.
In a lot of countries, in those developed countries like Taiwan and United States, they actually have newborn screening programs.
They are able to diagnose the patient in an asymptomatic state. This is something that we should aim to achieve in the future.
Of course, at the same time, we hope for more budget so that we can offer the treatment as soon as the diagnosis is made.
It needs collaboration from all the stakeholders. Not only the public healthcare system.
We need contributions, if possible, from the private sector, from the NGOs, even from the industry, to make all these treatments more affordable.
We shouldn’t put too many barriers that makes needy patients unable to access this life-saving treatment.
Question 5: What is your advice for parents of children with LSDs?
There are many challenges for the child, the patient and for the family.
So, first, I think it’s ‘time’. Because this treatment is every week or every two weeks for long-term, for the rest of their life.
The child may need to be away from the school. The parents, they need to be away from work every week or every two weeks.
There needs to be a lot understanding from the school, from the teacher, from the parents, employer, to take time off for the treatment session.
So, maybe we can introduce you to a parent to understand more about this.
Words from an Experienced Parent
To provide us with a better perspective about balancing it all, we also interviewed Mr Muhammad Rashid, father to Aisyah Humaira, a patient with LSD.
What has been your experience in caring for a child with LSD?
Mr Muhammad Rashid: When it comes to managing a child with LSD, I would say I have a lot of experience with it.
It requires a lot of sacrifice. I had to quit my job so that me and my spouse can take turns caring for our daughter.
My wife takes care of her in the morning, while I at night.
When did you find out your child has LSD?
Mr Muhammad Rashid: It first started when I began noticing that my child wasn’t like other children, physically.
She had a bloated stomach, but not that much, a bit hard.
We were informed by the geneticists who called to bring our daughter to the clinic so she can get a checkup from a genetic expert.
That’s when we met Dr Ngu.
The medicine is expensive, he said. If we could not commit to the whole treatment, it would be a waste.
It is the consistency that will determine if our child’s condition will improve or not.
In fact, Dr Ngu had us coming in for treatments more frequently from once every two weeks to once every 10 days to speed-up our child’s recovery progress.
Now, she has treatment once a week. It’s been more than a year now since the first treatment, almost 2 years.
What are the challenges of raising a child with LSD?
Mr Muhammad Rashid: Challenges are inevitable and it’s just something we need to face as parents, for the sake of our child’s health.
Therefore, we need to make lots of sacrifices in terms of time and childcare.
When it comes to our careers, I confess that I had to quit my job so that I could take care of my daughter and give her everything she needs.
Of course, children with LSDs need lots of care. That is undeniable.
But now, thank God, I am able to start work again as my daughter’s condition has improved a lot. There’s progress and she is no longer as fussy.
How did all this affect your family’s finances?
Mr Muhammad Rashid: From the financial aspect, as Dr Ngu has mentioned, the medication is very expensive, but it is covered by the government and the rest by MLDA.
The only condition is that we need to be consistent with attending the sessions so that our child can benefit fully from the treatment.
The most important thing is to ensure that her health improves over time.
We have noticed so much improvement since treatment began.
Now, I can go back to work and even my wife has started singing again in our home. Before, all she did was cry.
There’s been so much differences between then and now.
From an emotional perspective, of course, we were shocked at the beginning.
We found out that our daughter had Gaucher Disease which is unexpected because we did not know where this illness came from.
It was devastating when we found out our child had this illness. But of course, we had to face it and as parents, we had to be strong. It’s just that my wife had a harder time dealing with it.
Do you have any advice for the parents of children with LSDs?
Mr Muhammad Rashid: As parents, we need to accept it when our child is diagnosed with an illness like LSDs.
We have to be strong to face the adversity, if nothing else for the wellbeing of our children.
When our child gets the proper treatment, they can live long happy lives even if they still need medication.
If you notice anything strange about your child, physically seek medical advice and see a doctor immediately.
When we found out that our child had LSD, we had to give her more love and attention and sacrifice for her. In short, we need to give the best possible care to our children.
Question 6: What support is available for families in Malaysia?
As we have heard from our patient’s parents just now, obviously, the cost is not just the enzyme.
There’s many other costs involved. Adding all these small expenses makes quite a huge amount.
So, obviously, there needs to be a lot of help from other people, from society.
We are a caring society, so we need all those patient advocacy patient support group, NGO, to come forward to improve their quality of life.
They need treatment, the Enzyme Replacement Treatment, they also need good education, time off for recreation and things like that.
Those are the various aspects of the NGO, of the patient support group that can offer.
I mean, in Malaysia, we do have specific organisations who look into the welfare of patients with LSDs which is the Malaysian Lysosomal Diseases Association.
They have been doing a good job. They provide a lot of assistance and help to the patients and their family.
This is something that we are very grateful for.
I think it’s a very good thing because, you know, support groups are supposed to give you the strength that you need when you’re at your lowest point, right?
Moreover, we not only provide diagnoses and disease management, we also provide genetic counselling.
Every new patient, newly diagnosed patient, we’ll equip them with the knowledge.
You know, knowledge is power. Once they understand what the disease is all about, they probably can put themselves in a better position to go through the journey.
Often connect them with a patient support group, with a psychologist counsellor, if necessary.
We also provide a supporting letter for them to deal with the school or teacher, or the employer, to smoothen their journey.
If you or someone you know is caring for a loved one with LSDs, don’t hesitate to reach out to organisations like the Malaysian Lysosomal Diseases Association for support.
Together, we can create a community of care and understanding.
Parents can learn more about their work and access valuable information at www.mymlda.com or follow their updates and initiatives on their Facebook page.
Disclaimer: The information provided in this article is for informational purposes only and should not be considered as medical advice from Motherhood. For any health-related concerns, it is advisable to consult with a qualified healthcare professional or medical practitioner.
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