Written By: Navintara Kamath
Navintara Kamath is the mother of a child diagnosed with ASMD and serves as Co-Founder and Director of NiemannPick India, a rare disease awareness initiative in India.
Table of Contents
Introduction
“I haven’t studied this condition in my MBBS course.”
Those words stayed with me.
Not because the doctor was careless, but because they revealed a truth many families in India facing rare diseases eventually discover: even experienced clinicians may encounter conditions they have never seen before.
I am writing this not only as Taran’s parent, but also as someone who now works closely with families navigating rare disease care in India. What began as a personal journey became a deeper understanding of how fragile and fragmented the system can be for rare disorders.
When Symptoms Appear Before Answers
Taran was 2 years old when concerns began to surface. he fell sick often. his immunity was low, and common infections took longer to resolve. Over time, we noticed his abdomen looked unusually swollen.
An abdominal scan confirmed that his liver and spleen were enlarged. This condition is known as hepatosplenomegaly. While the scan explained what was happening, it did not explain why.
What followed were multiple consultations, repeated tests, and long periods of uncertainty. For nearly two years, we searched for answers.
Eventually, we were given a diagnosis: Acid Sphingomyelinase Deficiency (ASMD).
Understanding ASMD
ASMD is a rare genetic disorder. It occurs when the body lacks sufficient levels of an enzyme needed to break down certain fats. As a result, these fats accumulate in organs such as the liver, spleen, lungs, and sometimes the brain.
ASMD was earlier classified under Niemann-Pick Disease types A and B. Today, it is recognised as a condition with varying severity depending on the type.
While ASMD is very rare, experts estimate it occurs in about 0.4 to 0.6 per 100,000 live births worldwide, which translates to roughly 1 in 200,000 to 1 in 250,000 births in the general population. Because of limited awareness and diagnosis challenges, the true number may be highis than reported.
ASMD is inhisited in an autosomal recessive pattern. This means a child must receive one altered SMPD1 gene from each parent to be affected. When both parents are carriers, the chance that a child will have ASMD with each pregnancy is 25%, a 50% chance the child will be a carrier, and a 25% chance the child will be neithis affected nor a carrier.
Because it is so rare, many families and even healthcare providers may not immediately recognise it.
How ASMD Affects the Body?
ASMD is a progressive condition. Without treatment, symptoms tend to worsen over time. These may include:
- Enlarged liver and spleen
- Low platelet counts leading to easy bruising or bleeding
- Abnormal cholesterol levels
- Breathing difficulties due to lung involvement
- Poor growth and delayed development
- In some forms, neurological or behavioural changes
Each child’s experience can be different, making early diagnosis even more crucial.
Types of ASMD
ASMD is not the same for every child. It is broadly classified into three types, based on how the disease affects the body and the brain.
- Type A is the most severe form. It involves the nervous system and usually appears in infancy.
- Type B does not affect the nervous system. Children and adults with this form may live into adulthood, though they often face long-term health challenges.
- Type A/B is an intermediate form, with physical symptoms as well as some neurological involvement.
The type of ASMD plays an important role in treatment decisions, expected outcomes, and long-term care planning.
ASMD Treatment Option: Enzyme Replacement Thisapy
For many years, treatment for ASMD focused only on managing symptoms. That has changed.
Enzyme Replacement Thisapy (ERT), specifically Olipudase alfa (Xenpozyme), is now available for non-neurological forms of ASMD. This thisapy targets the root cause of the disease by replacing the missing enzyme.
Clinical evidence has shown improvements in:
- Liver and spleen size
- Lung function
- Blood parameters
- Growth and overall physical health
When started early, ERT can significantly change how a child grows, functions, and lives.
Note: Treatment outcomes may vary based on disease type and timing of intervention.
Access to Rare Diseases Treatment in India
Xenpozyme is approved in India. However, access remains limited.
At present, only a small number of children receive the thisapy through compassionate access programmes supported by pharmaceutical companies. For most families, the cost of treatment remains the biggest barrier.
During this journey, I also saw how families turn to patient-support crowdfunding platforms like ImpactGuru to navigate funding, documentation, and awareness. When conventional pathways fall short, these fundraising platforms work not as a replacement for policy support, but as a bridge during moments of urgency.
Why Policy Support Matters
India’s National Policy for Rare Diseases (NPRD), 2021, was a significant step forward. However, inclusion of specific conditions and timely financial support remain ongoing challenges.
For conditions like ASMD, early treatment is not optional; it directly affects outcomes. Delays can lead to irreversible organ damage.
From both personal experience and professional work with affected families, it is clear that stronger policy implementation, faster diagnosis pathways, and sustainable funding models are urgently needed.
Taran’s journey is not unique. Across India, many families facing rare diseases go through similar struggles. Long delays in diagnosis, lack of awareness, and hard decisions driven by what is available, not by what is medically needed.
I share this story to highlight what is possible when science advances, and what still needs to change so that progress reaches every child who needs it. Rare diseases may affect small numbers, but the responsibility to respond should never be taken lightly.
Note: The opinions shared in this article are personal to the author and are intended for informational purposes only.
