If medicine could not be made available, the only solution before the children affected with SMA and their parents is to slow down the progression of the disease. As their routine includes physiotherapy, occupational therapy and medicines, the patients’ families often struggle to manage their time and find themselves devoting the whole day to taking care of the children. No matter how properly they care, the disease will worsen over time and the children become unable to perform tasks which they enjoyed doing independently. This situation will slowly push them into depression.

An SMA patient from Malappuram was keen in studies and drawing. Gradually, the mobility of his hands also deteriorated and he slipped into depression. Also, the torture he suffered from a caretaker intensified his trauma.

When Type 3 SMA patients fail to secure a job despite having qualifications, they also get depressed. However, Cure SMA Foundation manages to support the children and parents by connecting them through WhatsApp groups and providing counselling. Cure SMA Foundation India was formed by families of 10 SMA patients in 2014. There are a total of 554 patients in the group and 112 of them are from Kerala.

To join the WhatsApp group of Cure SMA Foundation India which includes SMA patients and their parents, contact: 9446341617

Email: curesmaindia@gmail.com

Website: www.curesmaindia.org

Parents who quit their jobs

Aisha Afreen from Aluva started rolling when she was five months old. She started sitting at the eighth month when other children usually start walking. Her parents consulted a doctor fearing any disorder. But they were told that some children start walking very late and suggested physiotherapy. By one and a half years, the child began walking as a result of physiotherapy. However, she found it difficult to walk as she put on weight.

Aisha was diagnosed with SMA Type 2 after conducting a genetic test at Bengaluru as suggested by her physiotherapist. Later on, they continued physiotherapy at a centre that was 26 km away from their residence every day. They go to the centre in the morning and return by evening only. The whole day was dedicated to the journey and treatment. Aisha’s father quit his job and opened a night food stall so that he can take his daughter for treatment during the day. He ran the stall at night. If there was medicine for the disease, their life could have been much easier.

Aisha had to undergo a surgery in the meantime as her limbs turned stiffer. Her family struggled with financial problems as insurance coverage was not available for genetic diseases. As her condition worsened, parents had to spend more time taking care of the child. With this, her father had to shut the night food stall too. Now Aisha is 15 years old and continues physiotherapy at home. She also goes to school. Though she spends most of the time on a wheelchair, her spine has curved. The girl is dependent on her parents for even daily chores and their life also is planned according to her convenience. Families of all SMA patients lead a similar life.

“Cure SMA Foundation formed by SMA patients and their families brought immense changes in the lives of its members. The group shares tips to improve physical and mental health of the affected children and organises small events and celebrations. Apart from this, the foundation also provides help to apply for compassionate access programmes and gene therapy, said Sadiq, an active member of the foundation.

With the efforts of Cure SMA Foundation, a total of 44 patients in Kerala were selected for the expensive treatment for free. Among them, eight received gene therapy for free and were saved from the face of death.

Muhammed Fidal, son of Alappuzha native Noufal and Thasni, did not start rolling over even after she turned four months old. As their relatives remembered that Thasni also was a late bloomer, they ignored the sign. Doctors gave them Vitamin D supplements. The baby developed pneumonia in the eighth month. But the parents were blamed by everyone that they failed to look after the child properly. They also kept hearing insensitive questions on whether the baby can crawl or stand. People never stopped comparing the kid with other children of the same age. Slowly, the blame-game targetted the baby’s mother saying she was negligent during pregnancy.

Fidal was diagnosed with SMA when he was 16 months old. First the parents felt as if their life came to a standstill. Later, they joined the Cure SMA WhatsApp group and their hopes bloomed again. Fidal is four now, but he has not been able to go to nursery yet. This is because most of the nurseries and kindergartens do not have facilities to handle children with SMA. The boy was infected with pneumonia and was hospitalised several times. Every time, the entire family accompanies him to hospital. They have also applied for the charity programme to get the medicine for free.

Our society is constructed in such a way that puts all the blame related to caregiving on women. In most cases, the woman of the childless couple would be blamed more by family members and society. When it comes to rare diseases of children, they easily target mothers blaming that their negligence during pregnancy led to the condition. Families often tend to run away from society only because they have a differently-abled baby. This is against the concept of bringing such children to the mainstream. We have to carry them everywhere we go and this will put an end to the inferiority complex. Parents may slip into depression when they lose their social life and this will ultimately have a negative impact on their children.

C J John, Chief Psychiatrist, Medical Trust

When pregnancy turns into nightmare

There are seven families in Cure SMA Foundation’s Whatsapp group who terminated their pregnancies in the last five years as their first child was affected with SMA and the next pregnancies also turned positive in SMA tests. Society may not be aware of parents who are SMA gene carriers. So, people keep criticising the parents for medically terminating the pregnancy and advise them to continue it as a God’s gift. However, most of them are unaware of the pain and struggles parents experience when a diseased child is born. They are eager to blame others rather than find a solution.

Testing if any one of the couple is an SMA gene carrier can be helpful to reduce the number of patients. Also medical termination of pregnancy after confirming if the foetus is affected can resolve the issue to an extent.

Parents who spend sleepless nights

Muscles have a great role in ensuring smooth breathing and swallowing of food. As SMA affects the muscles, the children will experience difficulty in breathing and swallowing food when the disease progresses. The patients suffer from muscle weakness in addition to these issues. Even a common cold that goes away in a few days can be fatal for an SMA patient because of their inability to cough out phlegm due to muscle weakness. The family members of the patients also live fearing a casualty at any moment. When the child is affected with a cold, the parents’ sleep cycle shrinks to mere two hours per day. This continues for a lifetime as every day is a struggle and survival for them. The parents have to take care of the children as if they are newborns and this in turn ends their social life.

Families of SMA patients do not get systemic support from Kerala society at present. Some teachers even ask the parents to admit the children in special schools instead of choosing regular schools. Lack of toilet facilities also affect self-esteem of children with SMA. When they try using diapers, it leads to rashes and allergies as well. Some schools in Kerala deny admission to SMA patients as they are unable to attend classes regularly, said a parent without revealing his identity.

Parents hesitate to take children with SMA Type 3 and 4 categories, which are comparatively less intense, during journeys because of the insensitive staring by strangers. This can be a shocking experience for the children also.

Thalikulam native Nived Kumar still lives in the hope that he would get the medicine one day. He is relieved after knowing that a medicine was developed for the disease. Nived’s father was working abroad. He returned to Kerala to take care of his son, ending his career. As Nived’s condition worsens over years, he uses a BiPap machine (a type of ventilator) during night hours. Since his spine curved two years ago, he has been struggling to sit for a long time. His school life turned into a horrible experience due to the lack of disabled-friendly schools at that time. When he was in LP classes, he used to attend nature’s call behind a cloth shield inside the classroom with the help of his friends. He finds the new wheelchair ramps in differently abled-friendly government schools comfortable. However, using a wheelchair while going to the toilet is still a problem.

Nived faces the biggest trouble while leaving and coming back to his home as they do not have a proper road. Somebody has to carry him for 60 metres from home to reach the road. But his family does not get any support from the neighbours. Also such children feel guilty and hurt when a few people have to carry them just because of his/her condition.

Let’s change our attitude

Many teachers are not trained to help the students with SMA.

Curricular, co-curricular and extracurricular activities are not differently abled-friendly.

Difficulties to study in regular schools and suggestions to join special schools.

Utilise online class facilities for children with SMA.

Switch from charity-based approach to rights-based approach.

Ensure that offices, residential buildings and public transport systems are disabled-friendly.

Ramps are unavailable to board flights.

Use of batteries in motor wheelchairs is a challenge.

SMA patients are compelled to remove their braces/implants/AFO which are essential for their day-to-day life during security checks.

Denial of employment

Ernakulam native Naseema’s eldest daughter Nasnim was diagnosed with SMA at the age of four. By then, her second daughter Thasnim also was born and she also had similar symptoms. Though Naseema was heartbroken on knowing that the disease does not have any treatment, she decided to educate her daughters. As both of them had Type 3 SMA, they were unable to walk. Naseema managed to carry them to school as long as she could.

The girls were used to not urinating during school hours as it was difficult to use the toilet. They used the toilet only after reaching home and this became a habit. Since it was not easy to wash hands, they got used to eating with spoons. Their family spent a huge amount as many conned them offering complete cure from the disease.

Later, Nasnim secured second rank in engineering and Thasni passed MBA with 83% score. They did not get jobs according to their qualifications, but they were employed in Aster Medcity. They come and go using automatic wheelchairs. Thasnim said that they could not find facilities to work anywhere else using their wheelchair.

Nasnim later married her boyfriend and they also had a baby. With this, she quit her job to take care of the baby. As she is always active with household chores and her baby, her condition did not worsen. Naseema shed tears of joy saying though she could not see her daughters walking, her grandchild gives her relief and happiness. But Thasnim’s condition is worsening slowly and she also underwent a surgery. Now she finds it difficult to raise her hands. “As many children are still waiting for the medicine, I don’t think about it,” said Thasnim.

Majority of Type 3 patients are not married, unlike Nasnim. Though most of them struggled hard and secured degrees, they did not get jobs because of prejudice towards differently-abled people and the workplaces which are not disabled-friendly.

Babies who eventually lose lives

Baby of an Ernakulam-based couple started showing symptoms from the 20th day of birth. SMA was confirmed after tests. They were hopeful as the child was given gene therapy under compassionate access programme. However, the baby was put on ventilator due to breathing trouble and later succumbed.

About 60% of SMA patients belong to Type 1 category. If they are not given medicines in the initial stage, death is very likely. Usually, 80% of patients die within two years and the rest within four years. In Type 2 category, curving spine often leads to pressure on lungs and infection, and this poses threat to life. The patients are dying by inches due to the inability to cough out phlegm and swallow food properly. Abnormal pH level of blood and high level of carbon dioxide increase chances of death. In case of Type 2, chances of death is 27% and it is 12% among Type 3 patients. Expert neurologists said that they try to reduce death rate and disease progression among Type 2 and 3 categories through multidisciplinary clinics.

Multidisciplinary system is a method that integrates different types of treatments under the supervision of doctors specialised in various disciplines. They are as follows:

Physiotherapy occupational therapy - Physiotherapy is useful for the longtime health of SMA patients. Many of the patients need physiotherapy for upto five days. As physiotherapy was discontinued during Covid period, some of the children who were able to walk lost the ability slowly.

Supportive medicines - Calcium, Vitamin D3 and multivitamin medicines help sustain bone health.

DEXA scan - This examines bone density.

Orthotic management - Those who have weak leg muscles and bones use callipers for walking. Also they use different types of walkers, stands, belts and physiotherapy equipment.

Breathing apparatus - Sometimes, patients have to use nebulisation, inhalers and positive air pressure therapy (Rs 6000) as suggested by doctors

Cough assist machine - This will help cough out phlegm. It costs around rs 2.5 lakh.

BiPap machine - It is a simple version of ventilator.

Sleep assessment - This analyses the respiration of the patient during sleep in order to identify rising levels of carbon dioxide in the body.

Swallow test - This test examines if the patient has difficulty swallowing food

Spine curvature test - Test that assesses if spine is curved permanently

Families of SMA patients spend huge sums every year for tests and treatment. If the government helped the patients to conduct the tests for free alternately or supplied them special devices for free or at affordable rates, it could be of great help for them.

Deaths due to unidentified causes

A couple from Malappuram realised that they were carriers of SMA gene when they took their third child to hospital complaining of low motor abilities. Until then, they were unaware that their eldest child’s death was due to SMA. Several SMA patients and families undergo detailed checkups and tests only after two or three children in the same family get affected with the disease. In other cases, their medical history and deaths are left unrecorded. Type 2 category of disease progresses over time and the patient succumbs after 20 years in some cases.

SMA is one of the genetic disorders that has high infant mortality rate on global level. Kerala also is in the same boat. As 60% of SMA patients in the state fall under Type 1 category that is the most critical version of the disease, they succumb within two or four years. Either the government nor the health department does not have proper records of the same. Since the disease affects the lung muscles and heart muscles of the newborn, most of the deaths are documented as cardiac arrest or choking on milk, said Dr Smilu Mohanlal, paediatric neurologist at MIMS Hospital in Kozhikode. In the last 10 years, thousands of children might have succumbed to disease without being documented, Dr Smilu added.

Last year, 11 SMA-related deaths were reported in Kerala. Out of this, the cause of six were marked as choking on food. This figure is from the records of MIMS hospital alone.

Out of the 13 SMA deaths reported in 2019 in India, 10 occurred in Kerala.

The medicines supply under the compassionate access programme started after 2020.

A total of 44 patients in Kerala were granted the expensive medicines under compassionate use programme.

All those who received the medicine were saved from the face of death.

Rare disease policy and drawbacks

India had a rare disease policy to treat the patients. But it was withdrawn due to some ambiguities. Though a new policy was introduced later, it lacks many points to help children with genetic disorders.

The national rare disease policy instructs to make medicines available for those who require emergency treatment. As most of the SMA patients require emergency treatment, this policy is not helpful for them.

SMA patients have been requesting to reach a consensus with pharmaceutical companies to control the price of medicines. However, the central government focuses on developing medicines for rare diseases indigenously. Though this is a good move, it will take many years to get realised. When three FDA-approved medicines are available, the government emphasising on years-long research will not help the currently-affected patients.

Financial aid worth Rs 20 lakh only is offered in the policy. Also it recommends crowdfunding. However, it does not clarify how it should be carried out.

The policy specifies only eight hospitals in India as the Centres of Excellence for rare diseases. There is no state level representation in this list.

The policy does not put forward any suggestion to reduce the price of SMA medicines.

Policy and its drawbacks- Dr Mohammed Asheel, Former Executive Director of Kerala Social Security Mission

“The National Rare Diseases Policy was first introduced in India in 2017. The central government withdrew the same due to some technical reasons in 2018. When the policy was reintroduced in 2020, it classified rare diseases into three categories based on the long duration of treatment and medical expenses. Diseases like SMA are included in the third group.

When the government spends Rs 1 crore, they can conduct five liver transplants or 30 kidney transplants. So, it seems impractical to spend Rs 18 crore for a child’s treatment. However, we can raise the amount through crowdfunding and save the child.

What we can do is to implement compulsory licensing. When this was done in the past, the price of some medicines dropped by 97 percent. The Kerala government had submitted a proposal to the central government requesting to bring rare disease medicines under compulsory licensing.

Secondly, the ICMR should provide assistance to the pharmaceutical companies for research and development to manufacture medicines for rare diseases. However, they will not be able to make profit as the number of patients is very low. If the government pre-booked a certain amount of medicines and provided funds for the companies, it would be beneficial in the long run. The companies will manufacture medicines if there is an accurate figure of patients. So, it is important to maintain a registry. However, nothing of this kind has been mentioned in the policy.

Thirdly, there should be a cost-sharing mechanism that involves crowdfunding, social responsibility share of the companies and tax exemption from the central government. This will help keep the price stable to an extent. None of these facts has been addressed in the rare disease policy.

It has been found out that one out of 13 children affected with SMA were born when family members entered wedlock. Some studies have revealed that 21.6% of such children were born when uncle and niece got married”.

How to prevent disease - some practical solutions

One solution to reduce genetic disorders is to avoid marriages within the same family. This is mainly because genetic diseases are often found in marriages that take place within family members.

If there are patients in the family, those who are about to enter wedlock should undergo tests to examine if they are SMA gene carriers. Such marriages can be avoided to prevent the disease. If a person is an SMA carrier, it is more likely that there can be more carriers among their relatives.

If the parents are SMA carriers, they should discuss it with their doctor and undergo counselling. The baby’s condition can be diagnosed through Amniocentesis test or Chorionic villus test.

It is very important that the public should be made aware of the disease.

Special treatment fund for the disease including public corporate funding.

Granting permission for medicines under compassionate access programmes should adhere to rules and regulations.

The government should take care of the patients after the death of their parents.

Government intervention to reduce the huge treatment expense.

Provide training to doctors for better diagnosis.

Promoting research and providing research grants.

Significant changes in the rare disease policy.

Including rare diseases and genetic diseases in insurance coverage.

Imparting knowledge on rare diseases through the medical curriculum.

Corpus funding at state and central level for rare diseases.

Online registry for SMA and rare diseases.

Linking birth data and state-central registry.

Opening a centre for rare diseases in taluk hospitals.

Avoid marriages between close relatives and family members.

Spread awareness on tests to be undergone by parents with SMA history.

Ensure crowdfunding is carried out following rules and regulations and form a special board to grant permission for crowdfunding.

All doctors may not be able to diagnose all diseases. So, there should be a Centre of Excellence for rare diseases in Kerala.

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