Unidentified diseases, hopeless survivors | Part 02

The doctors thought that Ranjith’s brother Vishnu was suffering from muscular dystrophy. Later, when he was diagnosed with SMA through biopsy, Ranjith also was subjected to the test. Fighting all difficulties, Ranjith is now running a local channel and doing editing works for a living. As his parents were unaware that they were carriers of SMA gene and that Ranjith is affected by the disease, they gave birth to two more children later.

The family and health systems were ignorant about SMA and did not conduct any tests during pregnancy. Luckily, Ranjith’s sister was not affected by the disease.Due to the ignorance of society and doctors, two children with SMA were born in the same family.

There are many similar patients in the state and most of them are not even aware of the disease. As they belong to the Type 3 category, they face less difficulties compared to others. If they had received the medicine, the three-decade-long struggles of the siblings could have been ended. Their muscles become weaker day by day. Spinraza spinal injection and Risdiplam drops can be effective for them. But these medicines cost crores of rupees.

Lapses in diagnosis, lack of awareness in health systems

Mala native Aneesa realised that her daughter Asna is an SMA patient when she was 18 months old. Asna was a normal child till 15 months, but later she started limping. A doctor told them that calcium deficiency could be the reason for her difficulty in walking. However, Asna kept falling down while trying to walk. With this, they consulted another doctor who suggested a genetic test. Thus the child was diagnosed with Type 3 SMA.

Aneesa, who was a librarian, took a long leave from work and started visiting Ayurvedic hospitals with her child. This continued till Asna turned six. Meanwhile, the girl was affected by several diseases like pneumonia. While visiting hospitals, they had to explain about the disease to the doctors, Aneesa added.

The number of SMA patients can be reduced by conducting newborn screening and carrier tests to check whether one of the parents is a carrier of SMA gene. One out of every 40-60 people are carriers of SMA genes. When two such people enter wedlock, their offspring is more likely to get affected by the disease. As the parents remain completely healthy, they would not be able to realise if they are carriers .It is ideal to examine before marriage whether one of the partners is a carrier of SMA gene to prevent the disease.It is more practical to conduct genetic tests at the beginning of pregnancy and terminate the affected foetus.

There are many families in Kerala who realised that they are carriers of SMA gene after their first child was affected with the disease.Some of them underwent tests during later pregnancies and terminated it on finding out chances of disease. Many other families remain unaware of the disease and precautions. As a result, they give birth to more children with SMA. This happens when gynaecologists fail to notice medical history of previous children and negligence of parents in health matters. This emphasises the need for awareness in Kerala.

“During the second pregnancy, parents should openly discuss the health details of the first child with their gynaecologist. On the basis of this discussion, the parents need to be given counselling. The disease should be detected by subjecting the foetus to the Amniocentesis test or Chorionic Villus Sampling test,” said Dr Sruthi Nair, neurologist at Sree Chitra Hospital.

When plaster turns a villain

Asna was able to walk slowly till the age of eight. But she had a major fall while studying in third standard and her leg was plastered. Since then, she has never been able to walk. After applying the plaster cast, mobility of her leg deteriorated and she gradually lost her muscle strength. Thus she became wheelchair-bound at a young age. Though it was difficult to travel to school, Aneesa continued to be her daughter’s rock. Exam time was the most trying period for them. Asna could not sit for a long time as her spine was curved.

As days passed, Asna’s spine started bending further. They had no option other than a surgery. However, Asna became fully dependent on her parents after the surgery. She has started a YouTube channel while sitting in a wheelchair.

No matter how disabled-friendly Kerala is, there are limitations to wheelchair facilities, especially in case of SMA patients. The government has to continue online classes for such children. Also they should get a chance to visit the school once a week, the parents demand.

“Plastering fractured limbs of SMA patients should be done carefully. This can gradually reduce flexibility of muscles and make the patient bedridden. As this intensifies the disease, the orthopedists should be more careful and they have to be made aware of the consequences,” said Dr Smilu Mohanlal, neuro pediatrician at MIMS Hospital in Kozhikode.

Medical negligence

Thrissur native couple Naema and Haidar noticed some unusual movements of their son when he was just two months old. His condition worsened day by day. His mobility declined, bowel movement was affected and finally he was infected with pneumonia after being unable to cough out phlegm. After being treated in the ICU for two days, the baby succumbed. Since the couple were SMA carriers, they underwent Amniocentesis test during their next pregnancy from Dubai. All tests were negative.

The couple’s second child did not have any problems that they noticed in their first child, like disturbed movement of limbs and very low-pitched crying. However, everything turned upside down after three months. The result of the Amniocentesis test, which is said to be 98% accurate, was wrong. Though the family took all possible medical precautions to save their second baby, the negligent and inaccurate medical systems ended their hopes.

Improvements brought by medicine

Diya Shankar hailing from Alappuzha is only two and a half years old. She was healthy and normal for four months since birth. Her mother Soorya realised that the baby is unable to move her legs after vaccination at three months started. The baby was given an injection for AIDP as suggested by Alappuzha medical college staff. However, she was unable to walk as they promised.

Diya’s disease was confirmed to be SMA Type 1 on the day after the last date for selection of Spinraza medicine under the compassionate access programme ended. Then Diya was 11 months old. Diya was not selected in the draw under the compassionate access programme for gene therapy which was supposed to be done within two years. Later, her application for Risdiplam drops was selected. While giving the first dose, Diya was 18 months old. She was unable to raise her head and bones were very weak then.

“Diya could not even sit or lie on her belly or sides for one minute. The only moving parts were her eyes and hands. She was more like a lightweight doll,” her mother Soorya said. Now Diya can sit for upto 30 minutes, move her legs and roll on the floor after she started consuming the drops. The medicine should be continued forever, but it will be given free of cost for three years maximum under the compassionate access programme. If the supply of medicine stopped, all hopes of Diya and her family would come to an end.

Fear of ending medicine supply

A couple from Nilambur manage to take their six-year-old son, who is a Type 1 SMA patient, for trips as he loves travelling. Their only prayer is to keep their son healthy and normal forever as the disease keeps worsening day by day. It was then the boy was selected under the compassionate access programme for Risdiplam drops.

“This medicine cannot completely cure the disease, but it reduces further difficulties and chances of death. Once medication started, he never caught pneumonia which was frequent earlier. His lung muscles may have strengthened. Also he is able to raise his head as a result of the medication. We are extremely happy because we could save his life though SMA patients are destined to die when the disease worsens. But we are spending sleepless nights thinking how long he will get the medicine,” a parent who does not want to reveal identity said.

Those waiting for medicine

Isha Mehrin from Kozhikode started showing symptoms of SMA when she was six months old. The hospital staff told her parents that it can be late bloomers. No doctor could identify the disease. After she turned one year old, parents took her to Kozhikode medical college. It was then she was diagnosed with SMA.

The girl is five years old now. Due to some technical reasons, Isha did not get medicine under the compassionate access programme. Her mother has applied for several expensive medicines under charity offers. During the long wait for the medicines, Isha’s spine curved 34 degrees, which was 24 degrees last year. Their only hope is in spinal surgery. But the doctors do not recommend the surgery for children above 10 years. They use a belt instead. Isha refuses to use the belt due to severe discomfort. Medicine can be the only solution, but it is unaffordable for them. The family is waiting for free medicine with government assistance.

Ultra modern molecular biology labs and expert scientists are required for gene therapy. India has never arranged such facilities and medicines for such diseases are not manufactured here. Pharmaceutical technology in India has not developed yet which is why we are compelled to purchase medicines from other countries, said genetic expert Ethiran Kathiravan.

Developing medicines can be solution

The best solution can be developing medicine indigenously. If a medicine is developed for diabetics, many people will purchase it and the expense can be collected from the patients. But when it comes to rare diseases, the number of patients is very low and pharmaceutical companies will charge huge amounts. The company will start production here if there are 5000 patients. But nobody has accurate records. This survey is the first step the government should take in connection with treating genetic disorders. However, there are limitations, because an exclusive research wing is necessary for developing gene therapy. Given these facts, the following should be done in the future:

• Maintain a central-state registry: Companies will be interested in manufacturing medicines, if there are patients. This requires a survey and accurate records.

Testing labs, facilities to detect disease in foetal stage, human resource for research and other requirements and surgical management facilities also are necessary. There are no facilities to examine everyone in the world to know whether they are SMA carriers. According to several studies, marriages within same families (eg: marriage between cousins) increase chances of genetic disorders. People should be made aware of this. Also insurance coverage should be introduced for genetic disorders, said Dr VH Sankar, medical geneticist at Thiruvananthapuram medical college.

Those who recovered through gene therapy

A two-year-old girl from Malappuram had a curved back in the first year and could not sit or stand. With the help of Cure SMA team members, the documents for her gene therapy were prepared just two weeks prior to her second birthday and she was given treatment under the compassionate access programme. The child is able to sit and stand now and her condition is improving.

What Government should do- Divya Pachatt, clinical genetics senior consultant, MIMS

“The government should bear at least a small percentage of the SMA treatment expenses worth crores of rupees. The treatment should get insurance coverage. Normally, genetic disorders are not covered in insurance packages. A public-private partnership needs to be initiated for funding.

Pharmaceutical companies are not ready to manufacture medicine for genetic disorders at the local level as there are very few patients. Also manufacturing and distribution of medicines for such diseases are very complex and risky. The medicines have comparatively low shelf life too. All these will lead to price hike. Shortage of genetic specialists in hospitals increases chances of faulty diagnosis. This can result in unidentified cases and unrecorded deaths. These factors should be considered seriously as SMA is one of the most common genetic diseases that has a high fatality rate.

Read previous article: ‘Don’t ignore us…’ - Pay heed to SMA patients’ laments | Part 01