‘Why Me?’: What Patients of Spinal Muscular Atrophy Want India to Learn About Their Condition
From misdiagnosis to social boycott, patients born with the genetic condition called Spinal Muscular Atrophy (SMA) have a lot to deal with. Awareness is the first step to help them.
“My parents say that I could walk as a toddler but over time, I started losing balance. I would fall over, my spine became slightly curved, and I needed assistance with daily activities. My parents ran from pillar to post to get a diagnosis,” recounts Priya Srivastava, a Lucknow-based disability rights activist, who has Spinal Muscular Atrophy (SMA) Type-II. Such is the story of many people with the rare, progressive disorder.
In another instance, when 14-month-old Roha began experiencing trouble breathing, her parents rushed her to the hospital in another town. After two weeks, multiple tests and misdiagnoses later, they were shattered to know that their little daughter had the fatal illness. This was the first time that they heard of SMA and had no idea what it meant.
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Since the Rights of Persons with Disabilities Act (RPwD Act, 2016) doesn’t include SMA, there’s not much awareness of the condition even among medical professionals.
Karan Shah, a Mumbai-based canine and feline behaviourist, was misdiagnosed with polio shortly after birth. However, he got a diagnosis after his mother insisted on getting him tested for the condition. He is the founder of Pawsitivve Future, a canine training centre, and lives with SMA Type-III.
With such a drastic impact of the disease, let’s get to know more about this condition that creates significant impairment and results in a locomotor disability. Awareness is the first step to help the cause in various capacities, including raising funds for its treatment.
What is SMA and whom does it affect?
SMA is a genetic condition that impacts the control of muscle movement. It mainly affects the spinal region while the muscles of peripheral internal organs are relatively unaffected. SMA is a progressive condition that ultimately leads to muscle wastage or atrophy in the body. It is estimated that globally, 1 in every 10,000 people has SMA, while in India, 3,200 infants are born with the condition every year.
According to the Muscular Dystrophy Association, SMA is caused by missing or mutated SMN1 or SMN2 genes, also known as the survival muscle neuron genes. The protein produced by this gene — SMN protein — facilitates movement and is needed by motor neurons to function effectively. Since the gene is faulty or missing, it impedes movement among those who are affected by SMA.
As a result, individuals experience several challenges with voluntary movements, especially those in the head, neck, and limbs. Priya says, “Since the spinal cord and the surrounding areas are affected, people with SMA also develop scoliosis or spinal curvature. I have it too and I manage it by stuffing a lot of cushions around me.”
She continues, “In addition to limited mobility, I have low muscle tone which results in weaker bone health and density. Even lifting a book seems like a Herculean task to me. My condition also makes me prone to frequent fractures and joint dislocations. Since my mobility is impacted, I use a wheelchair to move around and need support with activities of daily living.”
Like Priya, many others with SMA require wheelchairs too. They may also rely on different support needs for daily life. Some patients have difficulty in swallowing and eating food and may require a feeding tube while others with compromised lungs may need breathing support or ventilation.
For Priya, her caregiver is an integral part of her life. “Since my parents have aged, it is not possible for them to lift me up, carry me around or support my needs. If my caregiver goes on a leave for even one day, I’m entirely dependent on my mother and even the most basic of everyday activities seem impossible.”
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She recounts how there have been times when people give unsolicited advice to her and her family about managing her disability without realising none of them work because her body functions differently than other people’s. “For instance, while travelling in a car or plane, someone must hold me tightly because even the slightest of jerks can make me fall,” Priya explains.
For Alpana Sharma, caring for her 11-year-old son Aarav, who has SMA Type-II, has been an exhausting process. With managing doctors’ appointments, therapy and everything else that comes along with the journey, the mother says, “There were days when I thought ‘why me?’ The stigma of a genetic condition is so strong that our friends cut ties with us.”
At a festive celebration, Alpana recounts, a woman didn’t let her child eat the prasad (food offered to a deity) being distributed by Aarav, in fear of contacting SMA from him. “But one cannot pour from an empty cup, so I invested my energy and time in my son’s abilities. That’s what helps both of us stay positive,” she says.
Alpana is the co-founder of Cure SMA India, a close-knit community of individuals with SMA and their caregivers.
Are there any treatments or cures for SMA?
While there’s no cure for SMA, several treatments have been suggested to make the condition less disabling for those who live with it. Across the country, therapists and neurologists suggest seeking occupational therapy such as building fine motor skills and physiotherapy, breathing exercises, monitoring dietary intake, or surgical interventions.
When asked about the accessibility of medical care for SMA, Priya says, “Since SMA is a genetic condition, the availability of gene replacement therapy is like a glimmer of hope in darkness. However, it is extremely costly which makes it inaccessible. One-time infusion costs anywhere from a whopping Rs 65 lakh to 18 crore. Since these costs are not covered under medical insurance, we often have to resort to crowdfunding, or in the worst case scenario, see a life slipping away.”
Studies have shown that those who received the gene therapy treatment fared better in terms of survival rate and motor abilities. Patients who received the treatment early in life also showed the ability to even sit independently later in life. Since such treatments only help in preventing the condition from progressing, those who receive them require long-term rehabilitation support in the form of physiotherapy, which also adds to the costs of treatment.
“Due to the exorbitant costs which make seeking treatment inaccessible, children with SMA have to fight for survival and often end up not making it,” Priya continues. In such a scenario, strong financial support plays a key role in enhancing the experience of the individual.
Several challenges to face and overcome
Due to the challenges that individuals with SMA already experience, navigating and participating in the workforce or accessing education can mean an additional exercise for them. Given how people with SMA often rely on mobility aids, an educational institution or workplace without proper access to different areas can mean limited learning as well as labour force participation.
To foster inclusivity and support the needs of employees with SMA, it is crucial for institutions to prioritise accessibility by implementing thoughtful accommodations and fostering an inclusive environment for individuals with SMA. “Accessibility plays a crucial role for people with SMA; while I require wheelchair access and caregiver support, these needs can vary across people with this condition, and we need more awareness about it,” Priya asserts.
For Karan, on the other hand, managing SMA is about balancing physiotherapy, aqua therapy, posture, and diet. “Even a day’s gap in the routine can drastically affect our health. This shoves all the improvements made thus far down the drain. Since we’re mostly sitting in a wheelchair, managing our weight also becomes a serious concern,” he says. Karan also relies on the support of his caregiver to go about his daily life.
Not just for individuals with SMA but accessibility is a crucial element for caregivers as well. Countries like the US provide caregivers with all relevant medical devices like a patient hoist to aid them in doing our jobs better. These are either not easily available in India or cost a fortune.
A little bit of awareness can go a long way here. Let this article be the starting point for inclusive practices at one’s workplace because embracing diversity and providing equal opportunities not only benefits people with SMA but also ensures an inclusive and innovative society for all.
Written by V-shesh; Edited by Padmashree Pande.
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