Representative image | Photo: Mathrubhumi
Jewel Roshan, a 16-year-old resident of Parappanagadi, is still a little baby for his parents Dr. Raseena and Dr. Sethunath. It has been 16 years since he started laying on the bed unable to move a bit. From the day he was born, he has not been able to raise his head without help. Raseena noticed the first sign four months after birth that the baby’s left leg was falling down when he was kicking his legs playfully.
Jewel never walked on his knees or set the first step when he was at the right age to do so. His parents and doctors thought initially that he was one of the late bloomers. But when Jewel turned one and a half years old, he was subjected to a test and was diagnosed with a rare disease that affects only one in 10,000 people - Spinal Muscular Atrophy (SMA). There was no proper treatment for the disease back then and they continued with physiotherapy. As he was highly prone to infections when exposed to crowds and he was unable to bear the same, Jewel’s life was confined to the four walls of his room.
Since then, Jewel’s family has been going through a ‘daily battle’ to protect him. They cleaned every nook and corner of the house to keep away every grain of dust from him, so that he would not catch even a cold. As the disease affects muscles, SMA patients would not be able to cough out phlegm. So, a common cold is fatal enough to claim their lives.
However, Jewel managed to go to school once a week and continued to be class topper till Class 8. He required several hours to write exams, because mobility of his hands kept decreasing. The disease worsened day by day and he would not be able to draw pictures or write any longer. But he keeps studying. Meanwhile, his spine curved inwardly (scoliosis) and jammed his lungs taking him to the face of death. He doesn't even dream of a car journey as he is unable to keep his head straight. Despite all the limitations, he won Maths and Science Olympiads at national level. SMA does not affect neurons in the brain so that the patient’s vision, hearing and cognitive abilities remain intact. Jewel has undergone a surgery to correct his bent spine (spinal fusion) now and is under care of his family.
There are over 7,000 rare diseases detected all over the world. So far, 450 rare diseases have been spotted in India. Many others might have gone unnoticed. Majority of such diseases do not have proper treatment or medication. However, there is one rare disease that takes lives of several children in Kerala despite having treatment and medicine - Spinal Muscular Atrophy (SMA). These children die due to unavailability of medicine and treatment. SMA is likely to affect one out of 10,000 children born across the globe (One out of 6000-10,000 children in the world are born with SMA). They cannot be considered as mere physically challenged individuals due to the gravity of problems they face in everyday life. Every child is destined to live a troublesome life as the condition limits their muscular strength. The disease worsens as the patient grows old.
It is estimated that there are upto 6000-8000 rare diseases diagnosed worldwide. Among them, 350 diseases are detected in 80 percent of cases. Though considered rare, these diseases affect upto 6-8 percent of the population. SMA, though not a rarest of rare condition, becomes a complex disease due to the huge expense required for treatment, unavailability of patient statistics, barriers in research, lack of timely and accurate diagnosis and long duration of treatment and care.’
According to the statistics that one out of 10,000 people are affected with SMA, 1 lakh people out of the total population of 150 crore in India might be affected with the disease. Kerala has a total population of 3 crore and at least 3000 people are likely to be affected with SMA. But no accurate records of the same are available at both national and state levels. Dr Smilu Mohanlal, paediatric neurologist (senior specialist) at MIMS hospital, said that the number of patients can vary according to the region and race.
Dr K Raseena, who is also the South Indian Coordinator of Cure SMA Foundation, said that SMA patients who are as intensely hit by the disease as Jewel can be very rare in Kerala. Parents of the over 100 children affected with SMA in Kerala are not doctors or professionals like Jewel’s parents. They may not be able to provide expensive treatment and ensure full-time care for the children. Eleven children, who were part of Cure SMA Foundation, succumbed in 2019 alone as they were unable to get the medicine, diagnose disease at the right time and seek help from caretakers.
Cure SMA Foundation India was formed in 2014 by family members of 10 SMA patients as the government and health department failed to provide a solution. Earlier, there were 554 members in the foundation and 54 of them succumbed in the previous years. According to their statistics, 20 cases of SMA were reported in Kerala last year alone. Dr Raseena said that hundreds of cases, which are yet to be diagnosed properly, might have been missed out from the figures in Kerala.
Presently, there are 112 members from Kerala in the group. This includes patients of different age groups from a 3-month-old baby to a 53-year-old. The government does not have any proper records of the disease and this is why people demand that a survey should be carried out to get the actual figure of people affected with rare disease including SMA. After the foundation started conducting awareness sessions on the disease in the society, at least four cases per month are being reported at Cure SMA Foundation alone. Within five years, 232 SMA cases were registered in NIMHANS.
Spinal Muscular Atrophy (SMA)
Spinal Muscular Atrophy is a neuromuscular disease that is resulted from the absence of SMN1 gene which produces the protein required for functioning of motor neurons that control muscle movement. Due to lack of this gene, the muscles become weak and the person struggles with impaired physical mobility. Gradually, they become wheelchair-bound or bedridden. Type-1 category of the disease is so fatal that the patient dies during infancy. So, most of the survivors remaining in Kerala are affected with Type-3 category which is less intense in comparison.
About 40-60 people of the population are carriers of SMA. The carriers are not affected with the disease. But when such a male and female have an offspring, the child has one out of four chances of getting affected with SMA. Since the carriers are completely healthy, it is impossible to know if they have the genes unless they undergo tests. The number of patients can be reduced by conducting carrier tests to know if the parents are carriers of SMA genes.
Four types of SMA
Type 1 category of patients are affected within six months of birth. Intensity of the disease is so severe in them that the babies mostly succumb within two years being unable to breath or consume breast milk smoothly. About 60 percent of SMA patients belong to Type 1 category.
Majority of the surviving SMA patients belong to the Type 2 category. They get affected with the disease within 6-18 months after birth and gradually become wheelchair-bound. As they grow old, their spine curves and lung and stomach muscles weaken gradually posing threat to life.
Type 3 patients get affected after 18 months of birth. Though they are able to lead normal life in the beginning, muscle strength deteriorates over the course of time and some of them become wheelchair-bound. Initial signs are noticed when they start falling frequently while walking.
This is the rarest and least severe type of SMA. The patients do not show any symptoms normally. They only feel some difficulties while running or exercising. So, cases are reported very rarely.
Complexities of disease
- Scoliosis - spine curving
These severe health conditions will gradually push the patients to death. A couple from Koduvally in Kozhikode approached a doctor after they noticed some difference in their baby's leg movements. The 3-month-old baby was diagnosed with Type 1 SMA. The doctor first suggested gene therapy. By the time they applied for compassionate use of gene therapy, two months were over and the child’s condition worsened.
When medicines that are not approved in India are imported without customs duty, import licence and customs duty exemption certificate are required. Doctors above the rank of civil surgeon can issue customs duty exemption certificates. However, some doctors who are unaware of the procedures reject the requests of parents. This makes the process even complex and time consuming. The same happened in the case of the baby from Koduvally. Finally, the parents managed to get the paper ready after a lot of struggles. When the child turned 8-month-old, they got permission for gene therapy through a draw.
Meanwhile, the baby choked on food and was hospitalised. The child was put on a ventilator, but suffered a cardiac arrest. Though the baby’s condition improved, they had to put him again on a ventilator later. The company offers gene therapy that costs many crores of rupees to only 100 patients under a compassionate access program every year. Even after getting permission for the same, the baby remains on ventilator. Asper the compassionate program guidelines gene therapies are not given to the patients on Ventilator
Available statistics of SMA patients
- 20 new patients last year alone
Unreported deaths due to choking on food
Children who have SMA suffer from muscle weakness and their lungs and stomach muscles may not function properly. The babies who have Type 1 SMA mostly die after choking on food. But all cases of choking on food are considered as mere accidents and the disease goes undiagnosed, said Dr Smilu Mohanlal of MIMS hospital in Kozhikode. When it comes to Type 1 and Type 2 SMA, every moment is precious. The earlier the disease is identified; the faster children should be given medicines. Gene therapy is likely to save children below the age of two from death.
Crores of rupees needed for treatment
SMA patients in Kerala are subjected to three types of treatment - single dose intravenous injection, spinal injection and oral drops. All three medicines are provided to the patients in Kerala on research or charity basis. The Drugs Controller General of India had not permitted commercial licence for these medicines in the country. However, the medicine called Risdiplam was granted permission by the Drugs Controller General of India in October 2020. That was the first time a medicine for SMA patients received commercial licence for sale here. Risdiplam is available in India from July 10.
- Oral drops - Roche Pharmacy’s Risdiplam is used as oral drops at present. This costs Rs 2.75 crore for a year in the international market. The patient should be given the medicine all 365 days a year. Only a limited number of patients are getting this medicine under compassionate access programme. This can be used by patients of Type 1, 2 and 3 categories.
Gene therapy can be useful for only children aged below two years. This treatment cannot ensure a complete recovery from the disease. Instead, it reduces the intensity of the disease and lessens chances of death within two years. The child may not need ventilator-support after gene therapy, said Dr VH Sankar, medical geneticist and professor at Thiruvananthapuram medical college.
Crowdfunding not practical in the long run- - Dr VH Sankar, Medical geneticist
In India, SMA is the most common genetic disorder after Thalassemia. However, no proper records of the patients are available at present.
On an average, six SMA cases per year are reported in Thiruvananthapuram medical college alone. When the figures from other hospitals and medical colleges in Kerala are examined, the number of SMA patients could be very high in the state. Since it is a rare disease very commonly found here, only a few children can benefit from crowdfunding. So, crowdfunding cannot be a sustainable way for the patients. It’s not a practical solution for SMA in the long run.
A total of 100 doses were supplied across the world under compassionate access program last year. Only a few children from Kerala were selected for the same. Many families initiated crowdfunding as they were tired of waiting for the compassionate access programe. It is a relief that a child named Muhammed received Rs 18 crore through crowdfunding, but a long term action plan and a sustainable solution is required for it. So far, 44 SMA patients from Kerala were selected for the free treatment. Among them, eight patients received gene therapy and were saved from the face of death.
Crowdfunding need protocol- Dr Smilu Mohanlal, paediatric neurologist, MIMS Kozhikode
‘Crowdfunding should be operated through a board that includes a doctor, a representative of the parents association, paediatric neurologist and a government representative. Only then we can ensure transparency. Application for crowdfunding should be considered via the same board. Genuineness of the case and doctor’s statement about the child’s chances of recovery also should be taken into account.
Next part: Unidentified diseases, hopeless survivors | Part 02