Rising cases of spinal muscular atrophy explained

The disease cripples the muscles of children which gradually stop working and become numb. As the muscles stop working, children cannot walk or do normal physical activities. The patient becomes dependent on the family members after a while.

Ahmedabad: Amidst the Corona epidemic in the state, another disease Spinal Muscular Atrophy (SMA) is on the rise.

Dr Mona Desai, a paediatrician, explained to ETV Bharat about the disease.

"There are four main types of the disease." The type-1 (SMA-1) disease can only be diagnosed if the child's DNA is tested at birth. If the child is diagnosed, it can be treated or vaccinated within 2 years. Type 2 (SMA-2) symptoms gradually appear after the child is one year old, in most cases once they are 1.5 years old. If SMA-2 type child is treated with physiotherapy, the child can live for 19 to 20 years. A child with Type 3 disease can live up to 30 years, while Type 4 children can live up to 40 years.

In this disease, the muscles of children gradually stop working and become numb. As the muscles stop working, children cannot walk or do normal physical activities. The patient becomes dependent on the family members after a while, as he/she can’t even change the side while sleeping.

SMA Cases in Gujarat:

Arshia Humayubhai Chandavanwala

Arshia is 4 and a half years old and has SMA-2. Arshia didn’t learn to walk even after she completed 1 year, so she was taken to the doctor. After the investigations, it turned out that Arshia has SMA-2 disease. Arshia is currently undergoing physiotherapy treatment. She is still not able to walk on her own. As advised by the doctors, a family member makes Arshia do some exercises to make sure her muscles do not get stiff. "Currently, there is no cure available in India," said his father. Physiotherapy does not cure but only helps prevent the disease from spreading more quickly to other parts of the body.

Varun and Kavya

Varun and Kavya, both the sons of Chetanbhai Patthar are suffering from SMA-2. Varun is 17 years old, while Kavya is 8 years old. According to Chetanbhai, Varun didn’t learn to walk even after 1 year of age, so they consulted the doctor. They consulted many doctors in Mumbai, Rajkot, and Ahmedabad but could not find the cause. After 2 to 3 years, finally, a DNA test was done and SMA-2 was detected. Later, younger son Kavya also found to be suffering from SMA-2. Chetanbhai has a daughter also, but she is completely normal. According to Chetanbhai, now is the time to get DNA report first and then match the Kundali. It has become even more necessary now so that the offsprings can be saved from serious diseases.

Kartik Girishbhai Nair

Karthik is 14 years old and has SMA-2 disease. He was also diagnosed when he reached the age of 1 and half years. Karthik cannot walk and cannot do physical work on his own. Girishbhai also has a young son, who is 4 years old. However, Girishbhai and his wife had taken care to get reports before the birth of the second child, so their second child has no symptoms of SMA-2. Karthik is very gifted in learning. He always tops the school.

Ritik Rahulbhai Sharma

Ritik is 6.5 years old and has SMA-2 disease. He feels trouble and pain while doing any activities like other children. At the age of 1 and half years, he was taken to AIIMS for treatment, where after tests, he found to be suffering from SMA-2. His father is currently serving in the Rapid Action Force (RAF).

Dhrumit Riteshbhai Patel

Dhrumit is currently 3 years 4 months old. He was also diagnosed with SMA-2 at the age of 1 and a half years. Dhrumit is currently undergoing physiotherapy treatment. He is made to walk wearing AFO shoes.

Anupratha Apurva Majmudar

Anupratha is 20 years old and currently suffering from SMA-3. He was diagnosed in the year 2012 when she went for treatment at AIIMS. The disease has begun to affect him since 2006. He is not even able to climb the ladder at the moment. He is currently studying engineering. The effect of this disease is slower in patients with SMA-3 than in other children.

Hitiksha Shaileshbhai Patidar

Hithiksha is 4 years old and suffers from SMA-2. She is also suffering like other patients, but since she is going through physiotherapy treatment, the spread of the disease is slower. She is currently unable to walk.

Aaina Junedbhai Mansuri

Aaina is about 4 years old and also suffering from SMA-2.

Why the treatment is difficult?

The treatment for Spinal Muscular Atrophy is very difficult, as there is no drug available in India. The drug for this disease is only available in the United States of America. The drug is very costly and there is demand that the Indian Government should make it available in the country. However, this is a rare disease and so the drug is not readily available. The drug for the SMA-1 is currently worth Rs 16 crore. There are different drugs for other types but not easily available in India. The patients have to get the drug imported or they have to abroad for treatment. However, not everyone can afford to go abroad.

How is Dhairyaraj's illness different?

Dhairyaraj is currently suffering from SMA-1, which was diagnosed shortly after his birth. Other types of illness are only get noticed once children grow up and can't do any physical activities. SMA-1 patients must be vaccinated within two years. If the drug or vaccine is not given on time, the child may not survive for more than 2 years.

Parents of children suffering from SMA are demanding that government should come ahead to help and make medicines available in India so that patients can be treated and recover quickly.