LSDs, or Lysosomal Storage Disorders, are a rare genetic disorder that causes metabolic waste to accumulate in the body’s cells.
When left untreated, LSDs can cause developmental delays, organ abnormalities, and in severe cases, even death.
The condition appears as early as childhood and is usually passed on through families. Early diagnosis is crucial for ensuring a full and happy life for those afflicted with Lysosomal Storage Disorders.
We sat down with Dr Ngu Lock Hock, Department Head of Genetics, Clinical Geneticist and Paediatrician, Hospital Kuala Lumpur, to learn more about the importance of early diagnosis in Lysosomal Storage Diseases.
Q1: Why is early diagnosis so important when it comes to LSDs?
All LSDs are genetic conditions. This means that to confirm the diagnosis, we need a certain type of genetic testing.
We can check the metabolite and the urine to look for waste material.
We can check the enzyme, the Lysosomal Enzyme in the blood, or we can check to see if there are any genetic anomalies.
For enzyme testing, we can collect a ‘dry blood spot’. We will take filter paper, put a few drops of the patient’s blood on it and let it dry.
Then, we will send the sample to the laboratory. They will them check the enzyme activity by analysing the dry blood spot.
It’s very convenient. It’s very easy to collect and send to the laboratory for them to run the test.
The next option is a DNA check. For this one, we will collect a fresh blood sample. From the blood cell, you can extract the DNA to do the DNA test.
However, for patients who are afraid of needles, they can opt for a painless alternative where we will just do a swab test.
We can swab the inner cheek, then collect a saliva sample.
Q2: Is timing one of the most critical variables in managing LSDs?
Early treatments are more effective.
This means that if you start this Enzyme Replacement Therapy at the early stage of the disease before it progresses and becomes more complicated, it is more effective.
That’s also why it’s important to make an early diagnosis, so that early treatment can be offered.
So, there’s a higher chance of successful treatments.
Q3: If someone in the family is diagnosed with LSDs, should family members and relatives also get tested?
To answer this question, firstly, we need to understand the inheritance of LSDs.
There’s basically two types of inheritance when we are talking about LSDs.
One is called Autosomal Recessive and the other one is the X-Linked Recessive.
When it comes to Autosomal Recessive Inheritance, both parents are carriers.
For this gene, we will normally have two copies. One that we get from our father, and the other from our mother.
A ‘carrier’ means one of the copies is faulty. But carriers have no symptoms because you’ve got a normal genetic ‘backup’.
Your body still has the correct instruction for the cell to make the enzyme.
In this case, the carrier has no symptoms – they are silent. When a carrier marries another carrier, there is a possibility that both parents may pass on the faulty copy to the child.
If a child receives both faulty copies from the parents, then there is no correct instruction for the cell to make the enzyme.
In this case, the child will be affected by LSD. Once we make the diagnosis for the child, we will offer to test the parents to verify if they are actually the carrier.
If they are a carrier, there’s a risk of recurrence in the subsequent pregnancy.
We will provide them with genetic counselling to explain to them what I had just explained.
Some of the options include what we call ‘prenatal diagnosis’.
This means that when the mother gets pregnant again, at 12 weeks to 16 weeks of the gestation, they can ask for a genetic testing.
If the foetus carries the similar faulty gene, then there is an option called ‘termination of pregnancy’.
That is one option. The other option is what we call ‘Pre-Implantation Genetic Diagnosis’. In this case, it involves IVF.
Those are some of the options available.
Q4: What should parents do if they notice symptoms or suspect that something might be wrong?
If the child does show some of the signs and symptoms that may suggest this is LSDs, I think the first step is to get a medical consultation.
It can be a GP (General Practitioner) or a General Paediatrician.
They can do detailed examinations to see whether the signs or symptoms are consistent with or highly suspicious of LSDs.
Of course, if this is highly suggestive, then the next step will be doing the genetic test that we have mentioned about in the beginning.
Q5: What would you say to families who might feel hesitant about doing these tests?
First, for the affected child, it is very important that we make an early and correct diagnosis. Because you don’t want to miss the critical period where effective treatment is available.
For each form of LSDs, the product and the enzyme that is involved is different.
So, this means that for MPS 1, this product, this enzyme, for this condition. For MPS 2, it’s a different enzyme.
You really need the correct diagnosis for the correct treatment. It’s not one treatment for all.
Different types of LSDs require different enzymes. So, the treatment product is different.
That is for the child.
Secondly, for the parents, for the family.
Taking care of a child with LSDs is already a difficult task. Having more than one child with the condition might make it more difficult for the family.
You need to do this genetic testing to confirm if you are a carrier so that you can carry out certain prevention.
Q6: Are there any success stories that can highlight how early diagnosis has the ability to change lives?
Of course! Enzyme Replacement Theory has helped many patients lead normal lives despite having LSD.
We have such success stories in a book published in the Malaysian Lysosomal Disease Association called ‘Hope’.
As you can see, there are many children who have LSD who have gone on to lead happy, fully and fulfilling lives.
This is all thanks to early diagnosis and early treatment prevention.
Don’t give up hope, there is always light at the end of the tunnel.
Join the Malaysian Lysosomal Diseases Association
For families affected by LSDs, The Malaysian Lysosomal Diseases Association, also known as MLDA, provides vital resources from educational materials to connect parents and caregivers with expert guidance and support groups.
By raising awareness and fostering a community of understanding, MLDA plays a crucial role in improving the lives of those navigating these rare conditions.
Parents can learn more about their work and access valuable information at www.mymlda.com or follow their updates and initiatives at Facebook.com/MLDA.
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.
For more insightful stories and fun recipes, stay tuned to Motherhood Story!