What is SMA? Raising Awareness This SMA Awareness Month

After years of hopes and prayers, a beautiful baby was finally born in the humble abode of Mr. and Mrs. Sharma. The baby’s mother delighted in playing with her beloved son, but she began to observe something out of the ordinary. After months, her baby still could not hold his head up, and she could feel a strange stiffness in his muscles.

With increasing concern, his parents took him to the doctor, where, after a lot of tests, he was diagnosed with Spinal Muscular Atrophy (SMA). His mother, who had not even heard of such a disease before, feared for her precious child’s life. The only suitable treatment felt miles out of reach with its exorbitant cost.

Such is the reality of thousands of families in India, who are unaware of this rare and deadly disease until they are forced to face it. While SMA affects 1 in 7,774 live births in India, it can be extremely fatal and is the leading genetic cause of infant mortality. It is of paramount importance to be aware of this disease and its causes, symptoms, treatment and more. 

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Hence, Spinal Muscular Atrophy (SMA) Awareness Month is celebrated in August every year. 

Spinal Muscular Atrophy (SMA) Awareness Month 2024

SMA Awareness Month has been observed since 1996 with the purpose of educating people about this rare disease. The theme for SMA Awareness Month 2024 is ‘Breakthroughs Begin With You’. It encourages SMA warriors to step forward and take the lead for change in the fight against SMA.

To show our support in this fight, it is crucial to learn more about this rare disease. So, let us delve into a thorough understanding of spinal muscular atrophy and shine a brighter spotlight on its awareness.

What Is Spinal Muscular Atrophy?

Spinal muscular atrophy is a genetic condition affecting the motor nerve cells in the spinal cord, causing muscle weakness and restricting muscle movements in arms, legs, face, chest, and more. 

This condition gradually deteriorates nerves connecting the spinal cord with muscles, leading to progressive weakness and shrinkage. 

SMA is caused by a mutation in the survival motor neuron (SMN-1) gene, leading to a deficiency of the SMN protein necessary for the survival of motor neurons. Motor neurons help in the basic movement of the body. The SMA spectrum is divided into 4 types, namely SMA Types I - IV, differing as per age group and severity of symptoms. 

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SMA Type I is the most common and severe type affecting infants from 0-6 months. It progresses rapidly and restricts movements in newborns. The longer the treatment is delayed, the worse this condition becomes. Hence, it is crucial to be aware of the early warning signs of SMA to better protect your child. 

Symptoms: The Early Warning Signs

Spinal muscular atrophy presents itself in several warning signs, including:

• Unusual muscle spasms

• Decline in ability to move or walk

• Limb weakness

• Unexplained stiffness in muscles

• Decreased reflexes

It is advised to visit an experienced medical professional as soon as possible if any of these symptoms are experienced for a faster recovery process.

Diagnosis

In the case of infants, doctors may suspect SMA when a child is noticeably weaker and shows delay in developmental milestones like holding their head up, sitting up without support, and more.

Spinal muscular atrophy can be diagnosed through:

• Genetic testing through a blood sample.

• Newborn screening, where a blood sample is taken right after birth.

• Prenatal testing, which is done to rule out the possibility of SMA in a fetus.

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In case of a positive diagnosis, treatment should be initiated immediately to prevent further damage to the affected muscles. 

Treatment 

It wasn’t until 2016 that proper treatments became available in an attempt to cure SMA. The treatment for SMA is considered to be the world’s most expensive treatment, with a single injection amounting to crores of rupees.

The treatments for SMA available in India are as follows:

• Evrysdi (Risdiplam): This medication was launched in India in 2021 for people suffering from SMA. It specifically targets the SMN-2 (Survival Motor Neuron) gene to produce functional SMN protein, improving muscle function in the body. This treatment’s cost ranges from INR 22 to 72 lakhs per year, depending upon the age and weight of the patient, which can be highly unaffordable for an average Indian household.

• Zologensma: It is the only approved gene therapy for spinal muscular atrophy. This life-saving injection consists of a synthetic SMN-1 gene loaded into a virus. Like a vaccine, this is then injected into the spinal cavity, where it ‘infects’ the target cells with a copy of this gene, which helps produce the SMN protein required for muscle strength. The price for this life-saving treatment is set at a whopping INR 16 crore, making it higly unaffordable to families in India.

These treatments, although incredibly effective, are almost impossible to afford on an average household income. Moreover, if treatment is not administered on time, a child cannot survive beyond the age of two years. What must one do in this financially stressful situation?

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When funds are needed urgently in such hard times, a concept known as crowdfunding comes to light. Crowdfunding, defined as the practice of raising money from a large number of people, has helped many individuals get the required treatment on time. ImpactGuru, India’s leading crowdfunding platform, helps SMA warriors get the treatment they need.

Also Read: Zolgensma does its wonders on Dhairyarajsinh thanks to you! 

Baby Teera’s Inspiring Tale 

Baby Teera was just two months old when she started showing signs of breathlessness, which highly alarmed her parents. They took her to a doctor immediately, who asked them to consult a neurologist. After a lot of tests, baby Teera was diagnosed with SMA.

After this heart-breaking diagnosis, her parents immediately started researching for ways to fund her treatment. It was then that they came across ImpactGuru, who graciously supported them in raising funds for baby Teera. It was inspiring to witness thousands of donors coming together from all over India to raise a whopping INR 16 crore within a matter of 3 months!

Source: ImpactGuru

After a quick disbursal process, Teera became the first SMA child in India to be successfully administered with Zologensma. ImpactGuru proved to be a firm pillar of support for baby Teera’s journey. Now, more and more SMA warriors have come forward with the hope of winning the battle against SMA. Countless other successful fighters have been able to combat this deadly disease, with the help of ImpactGuru!

Also Read: How The Power of Social Media Gave This SMA Warrior a New Life

Starting A Conversation About SMA

Baby Teera’s story and many other such patients’ campaigns have paved the way for raising awareness for this rare disease. Through such fundraising campaigns, the general public has become more aware of SMA’s causes and symptoms, and more importantly, its treatment. 

With its user-friendly interface and quick process, campaigners are able to raise funds for their treatment with ease with ImpactGuru! To know more about their mission to make healthcare accessible, visit impactguru.com.

Source: ImpactGuru

Early diagnosis and treatment are crucial for a better chance at recovery. Hence, raising awareness is absolutely necessary. This SMA Awareness Month, let us be the voice for people fighting SMA and educate the masses for a better outcome for their recovery!

Together, let us stand up for our SMA warriors!

(Cover Image Source: Envato Elements)