Untangling SMA knots
HYDERABAD: Cure SMA, a foundation made for people suffering from Spinal Muscular Atrophy will hold a 5K and 10K marathon in the city next week to raise awareness about the disease.
Pratyush Nalam, 26, an alumnus of IIT Bombay, had cleared the Microsoft Certified Solutions Developer (MCSD) exams that are usually attempted after college graduation, at the age of nine years. He received a national award for exceptional achievement from the central government. This is in spite of the fact that he has been a victim of a neuro-genetic disease called Spinal Muscular Atrophy (SMA) and his parents were told by doctors that he may not live longer than 10 years of age.
His mother, Srilakshmi Nalam says she underwent serious depression when she discovered that her son had this rare disease. “I went into a very low phase, having suicidal tendencies and thinking that my life was a waste. It was my son’s resilience that helped me get over that phase,” she said.
Srilakshmi is the co-founder of Cure SMA, a foundation formed in 2014 by Alpana Sharma, who is also a parent of a child suffering from SMA. Gradually other parents and adults who have the disease joined the organisation. “Initially, very few people were there mainly to support each other and to guide those in need. Slowly, we grew and in 2018, we got the organisation registered,” says Srilakshmi.
The disease
“Spinal Muscular Atrophy is a very rare disease. It’s a neuromuscular, genetic disorder and is generally present at birth. It expresses itself between 0 to 2 years of age. The more severe form is SMA type 1 where the children cannot even hold their heads, sit or eat anything. They have breathing and swallowing issues also. Generally, they do not survive for more than two years. Type 1 is the number one infant killer. SMA type 2 is a little less severe than type 1 as children can sit and hold their heads. However, they cannot stand or walk. Then in type 3 SMA, children are able to walk for a few years, maybe five-six years but they too, after some time, lose their ability to walk because of the progressive nature of the disease,” said Srilakshmi, while talking about the severity of SMA.
Being a neuromuscular disease, it affects the whole body, right from the limbs, the digestive system, the respiratory system and the spine. What is unique though, is the fact that children affected by it, like Pratyush, have extraordinary cognitive abilities. “They are extremely intelligent and at par with the children who do not have the disease. They can do wonders if given the right opportunity. The disease confines them to a wheelchair and makes them completely dependent on caregivers (mostly parents),” says Srilakshmi.
The treatment
Srilakshmi says that awareness about the disease is very low even among the doctors. The disease is generally put under muscular dystrophy (and not atrophy) but both of them are way apart. According to the National Policy for Rare Diseases (NPRD) 2021, SMA has been put under group three, listing “diseases for which definitive treatment is available but challenges are to make optimal patient selection for benefit, very high cost, and lifelong therapy.”
The policy provides for a one-time fund of Rs 50 lakh available for the patient. However, Srilakshmi says that it would not even last a year for a single child with SMA. “The medicine only costs `72 lakh a year. Besides, there are other costs as well– that of surgeries, therapies, assistive care and much more,” she says.
There are only three US FDA-approved medicines for the treatment of SMA. Only one is approved by DCGI (Drugs Controller General of India). It is Evrysdi/Risdiplam by Roche Pharma. It’s an oral drug given on the basis of the weight of the child. It was launched in India in 2021.
“We are trying to get the central and state governments to make the medicine available and accessible to SMA children,” says Srilakshmi.
Apart from contacting the governments and supporting the parents of SMA children, Cure SMA also provides multiple medical facilities under one roof through its multidisciplinary clinics. This facility is available at Rainbow Hospital in Hyderabad. “Once in two months, we provide a neurologist, pulmonologist, ortho surgeon, gastroenterologist and physiotherapist, all under one roof. For an entire day, only SMA patients are treated. This is helpful for the patients because they are in touch with the doctors on a regular basis. Regular evaluation of children helps in better management of the disease,” said Srilakshmi.
Raising awareness
“We don’t want awareness to begin at the time of diagnosis. We want people to be aware of the disease before it starts so that they can take informed decisions when the time comes. They will be in a better position to prevent the disease,” said Srilakshmi.
Prevention can take place when we know whether a person is a carrier of the disease. A person with a normal gene and a defective gene is known as an SMA carrier. The disease does not necessarily show up in an SMA carrier. It is when two carriers have a child, the chance of the child having the disease is 25 per cent. Hence, getting a carrier test done is important. During pregnancy, prenatal genetic test can be done between the third and fifth months. There is a test known as amniocentesis where the amniotic fluid is drawn and genetic testing is done. It helps in knowing whether the child has SMA or not.
However, to be able to do that, awareness about the disease among the general public, doctors, and government officials is crucial. “Sometimes, people who are not aware of the disease and are carriers of SMA, end up having two SMA children which increases their difficulties twofold,” Srilakshmi said. “There are about 15-20 couples in India with two SMA children. In Telangana and Andhra Pradesh, we have more than five such couples,” she said.
August being SMA awareness month, Cure SMA is hosting a ‘Run for SMA’ marathon on August 06. There will be 5K, 10K runs and 10K cycling. “It is for awareness and we want people to just participate, walk if not run, to support SMA patients,” said Srilakshmi. “We want governments and CSR organisations to know that this is a progressive disease, and children suffering from it only get worse. There is no cure for it. The medicine only helps them live longer. We want different stakeholders to join hands and make the medicine and healthcare accessible and available to patients,” she concluded.