SMA: Will the affected families stop in two generations!

Asafia Tasneem Ruhi. Her HSC result was published on 26 November, 2023. She passed it. The news of Ruhi's passing is more important than the 10 lakh 67 thousand 852 candidates who passed that year. Ruhi is suffering from a rare genetic disease. Due to the effect of this disease, she has to go through physical complications, mental stress and uncertainty of life and death. Apart from preparing for the exam, she has to constantly struggle to survive against numerous odds. 

Ruhi suffers from the incurable genetic disease SMA. In Bangladesh, the consequences of this disease are so tragic that patients are dying due to lack of proper care even though they are treated with medicines. And if medicine is not available, the parents know that their child will die within a certain period of time. Knowing that the beloved child will die, they have to do the difficult task of raising him.

Many parents are treating their children in our country by selling medical supplies even with the fear that the child will die. But the reality is that even the doctors cannot guarantee the survival of the affected patient. Because, there is no complete treatment of this disease in our country. Even this diagnostic test is not available in our country. The test has to be brought from the neighboring country India at a cost of around 20,000 BDT.

Even if the disease is diagnosed by testing, the treatment of this disease is not easily available in the country. SMA is primarily a muscle disease. In medical terms, it is called 'spinal muscular atrophy'. It is a progressive neuromuscular disorder. This causes the patient's neurons to dry up. As a result, muscles and bones become weak or do not work. It is a rare and complex disease of the nervous system, which is caused by genetic defects. In this disease, the child gradually becomes unable to sit, stand and raise his head.

Many people suffer from scoliosis due to SMA. The strength in the muscles of the hands and feet gradually decreases. Some people's head tilts to one side of the neck. They can't even keep their heads straight. And due to continuous pressure on the chest rib, breathing problems occur. Since the symptoms of this disease are not apparent at birth, diagnosis is also a major challenge.

Why is the disease a threat?
To date, none of the drugs developed to treat SMA. Medication only controls the disease. FDI is approved as the world's most expensive vaccine for this disease.  The price is about Tk 22 crore. This is gene therapy from Novartis.  It can be applied before the patient weighs 21 kg. However, according to the source of the manufacturing company, they are continuing research on this issue so that this limitation can be overcome. Great success comes from this medicine once applied. The challenge is that if the disease is not detected within this period, the vaccine cannot be administered.  In addition, there is an injection from the nusinersin group, Spinraza. These drugs are FDI approved but still not approved in Bangladesh. 

Roche Pharma's oral drug name Rizdiplom was approved in Bangladesh in 2023. Spinraza and this Rizdiploma are to be run for lifetime. If a patient takes Rizdiplom, he spends 50 to 90 lakh taka a year on medicines. On top of this are bipap services, hospital expenses, physiotherapy, orthotist and prosthetist expenses.  Not all of these services are readily available in Bangladesh.  As a result, the cost increases. At present, the average cost per month for a patient without medicine is around 50 thousand BDT. So far SMA patients are not covered by health insurance like other rare diseases in our country.  As a result, the situation of the parents becomes miserable. There is no guideline for providing complete treatment of SMA in our country.

Unfortunately, the disease is not completely cured even after spending so much money on medicines. As a result, we have patients dying here because of not being able to ensure other services despite getting medicines. One such example is Kaushani.

Kaushani was receiving the free oral medicine Rizdiplom from 'Rosh Bangladesh' for the past 6 months. A few days ago, some SMA patients could have been reassured by getting medicine. But Kaushani's death last month despite receiving regular medication has raised new questions, so isn't medication the only solution? Talking to some doctors, the exact reason is not known. They said that since the treatment of SMA disease is still in its infancy in Bangladesh. As a result, lack of medical experience, necessary training, supportive patient care and essential services are major reasons.

Limitation in Bangladesh
SMA disease test cannot be done in Bangladesh. Although this test is done in neighboring countries, it is very expensive. As a result, doctors treat the symptoms of this disease. Apart from this, primary treatment is given for other diseases with nearby symptoms.  Due to these reasons, the mortality rate in SMA in Bangladesh is higher than in other countries of the world.

Recently, a couple from Narayanganj working in a garment factory sold ornaments to get their children tested. But they don't know how to do further treatment. Despite such anxiety, they just want to be sure that their child does not develop SMA. Because they already know how long-term and expensive the treatment of this disease is.

There is no dedicated hospital for SMA disease therapy including other medical services. Even so, no SMA clinic has yet been established; Where patients can consult regularly and hassle-free.

As there are no reliable statistics of living patients in the country, no statistics are kept of those dying from the disease. But two patients died in the last two months. Al Amin died in October at the age of 2 years and 7 months, followed by Kaushani. Swarthak is currently under treatment in the hospital due to cold.

There is a wide spectrum of treatments for this rare disease. And each of the treatments used at different stages of that spectrum is expensive. 10 to 12 departments of medicine have to work together in the management of this disease. As a result, although the disease is not completely cured, the suffering of the patient is somewhat reduced. The department of medical science which provides multi nodal therapy for this disease is - paediatrics, neurodevelopment, paediatrics, neonatology, pulmonology, neurology, physiotherapy, occupational therapy, orthotist, prosthetist, spine surgeon, nephrologist, urologist, cardiologist etc. It is impossible to get 10 to 12 doctors at the same time in our country. As a result, the patient's family has to suffer a lot.

Various equipment including wheelchairs with special features are required for these patients. But there are very few support institutions in Bangladesh. Patients do not know much about the few institutions that exist. As a result, these equipment have to be procured from various countries including India at a high cost.

According to the information of maternal and child health department of International Centre for Diarrheal Disease Research, Bangladesh (icddr,b), 24 thousand 300 children die of pneumonia every year in Bangladesh. Interestingly, patients with SMA also have cold-related problems. 

A foundation named 'Cure SMA Bangladesh' has been established to work for the welfare of SMA patients in the country. The president of this foundation, Shahadat Hossain, said that children who die of pneumonia every year, if SMA tests could be done, a significant number of SMA patients would have been found. Because one of the symptoms of SMA patients is pneumonia.

Case studies are also tragic stories
Aminul Islam lives in Rangpur. He is well known in Rangpur as a noble businessman. He had a transport business with 18 vehicles. Aminul Islam has two children of the couple. First child Azmain Nafi Noor Swarthak. She was diagnosed with SMA at 7 months of age. Currently he is 6 and a half years old. Sarthak has been running from hospital to hospital for a long time. Among them, their second child Aswad Nafi Noor died of the same disease at the age of only 5 months and 17 days. He sold 16 cars one by one to cover the medical expenses of his eldest son, and also sold the house in the city. Currently, Aminul Islam is very poor.

The couple has decided not to have any more children. As the reason for this, Aminul Islam told Risingbd, "I have spent all my life savings with two children. If we then have a healthy baby, he will have a 50 percent chance of being an SMA carrier. I can't leave anything for my child, which he sells to treat his child. So as long as Sarthak lives, I will live with him.

Note that, SMA disease is caused by genetic problems in parents. If a couple is an SMA carrier or carries the gene responsible for developing SMA, their child has a 25 percent chance of developing SMA; There is a 25 percent chance of having a healthy baby, and a 50 percent chance, even if the baby is healthy, of being an SMA carrier. For example, both the children of Aminul Islam couple are affected by SMA. As happened in the case of Shahadat Hossain’s family. Their first child died with symptoms of the same disease. The second child Nabani is also suffering from SMA. Omar Farooq, a private sector employee, has two children, both of whom are affected by SMA. Ripon Hossain and Tanzina Afrin's first child died of SMA at the age of 9 months. The couple dreams of a second child. They tested amniotic fluid from India and confirmed that the unborn child had no symptoms of the disease. This test is also quite expensive.

Many parents do not know about this test. Even if you know that there is no system for this test in the country, do not dare to think that you will have to spend a lot of money from India. All in all, if SMA disease runs in any family, that family stops within two generations. On the contrary, the question is raised by the families, will these families stop in two generations? The government or the rich will not come forward?

Statistics do not reveal the horror in many cases
There are no specific statistics of SMA patients in the country. Cure SMA Bangladesh is believed to have reliable statistics. According to the organization, 163 patients have been identified in the country so far. The organization has compiled these statistics by collecting primary data from several hospitals, clinics, diagnostic centers and pharmaceuticals in the country. One of the reasons is marriage between relatives. As such, it is feared that the number of these patients in Bangladesh is very high. But due to the low availability of testing, it is difficult to diagnose.

Those concerned say that if the SMA test could be done easily and at low cost; Then it could be seen that it has spread in the form of an epidemic in Bangladesh. As a reason, they say, despite being a country with six seasons, there should not be so many children with pneumonia in Bangladesh. These patient advocates believe that a large proportion of children with pneumonia in the country are likely to be affected by SMA. The truth of the matter can only be confirmed through testing.

Why SMA is a rare disease?
In medical science, 'rare disease' refers to those diseases that affect only one person in 2000 to 2000,000 population. Parents of affected patients and members of the patient advocacy group 'Cure SMA Bangladesh' say that if the cost of SMA test is reduced and the scope of the test is increased with government initiatives, it will be seen that the number will be much higher. This is because all patients tested for SMA symptoms over the past two years have been diagnosed with the disease. In addition, patients who died with symptoms of the disease were not included in the statistics. As a result, it is naturally thought that the number of children affected by this disease in Bangladesh is higher than expected. 

Apart from this, SMA is spread due to genetic problems and due to the high incidence of consanguineous marriages, there is a fear of more SMA patients in our country.

August is considered as 'Rare Disease Month'. Various countries around the world observe the month of August as Rare Disease Month as this SMA Awareness Month. Even the neighboring country of India observes SMA as a rare disease awareness month in August. Nationally, August may be observed as 'Rare Disease Month' in Bangladesh from next year with emphasis on SMA.

Tragic End
Those suffering from this disease are gradually confined to wheelchairs. The spine bends to one side. In medical terms it is called 'scoliosis'. Scoliosis is more common in patients with SMA. As a result, the body balance is lost in the sufferers of this disease. And the thoracic cage of the spine is constantly under pressure. As a result, SMA sufferers often suffer from colds, coughs or other respiratory illnesses. When scoliosis of the spine is excessive, surgery of the spine is required. Physiotherapy is very important for SMA patients. But in our country, there is no specialist physiotherapy treatment center for these patients. Due to untreated respiratory infections and complications, these children eventually die if they do not receive proper treatment. Although this time varies by type. For example, type-1 babies die within two years of birth if untreated.

There are four types or stages of SMA
Type-1: Symptoms of SMA type-1 usually appear within a few weeks to 6 months after birth. In this case, they can live up to 2 years without treatment. The baby's body is very soft. The baby's neck is not stiff. The child cannot sit up. Patients of this stage are more identified in Bangladesh.

Type-2: Type-2 symptoms usually appear between the ages of 6 months and 2 years.  After the child starts walking, the balance suddenly goes away. The child falls while walking. The child jumps, but does not walk. There are quite a few patients of this stage.

Type-3: Symptoms appear from 18 months to puberty. Symptoms of the disease appear suddenly after everything is normal. It is difficult to ride a bicycle or walk.

Recently, SMA type-3 was identified in a student studying in the higher secondary school of a reputed educational institution in Dhaka. Despite being healthy for so many years, he was diagnosed with SMA at the age of 17. He now has to walk with support. His father is a teacher in the Department of Accounting and Information Systems of Dhaka University. He got the opportunity to migrate to Canada at the beginning of his teaching career, but he did not go because of his sense of responsibility towards the country. Currently, he considers himself a 'helpless father'.

Type-4: Symptoms appear after the age of 18 years. The patient's body becomes weak. Patient has difficulty walking. Gradually the patient became confined to the wheel chair.

Medicine depends on luck
The foreign pharmaceutical company Novartis, through the Global Managed Access Program (GMAP) program, every year, through a lottery, gives the injection named Zolgensma worth Tk 22 crore to two children suffering from SMA in the world for free. In 2022, a Bangladeshi child named Raihan received this vaccine through the initiative of the National Institute of Neuroscience Hospital. At present he is quite healthy and normal. However, it is impossible for many people to buy this vaccine at the cost of Tl 22 crore.

Apart from this, the Roche Pharma drug Rizdiplom, approved in Bangladesh, was also given to two children free of cost. Two lucky children get this medicine. Among them, Navani, who received the first medicine, is much healthier than before. However, after taking medicine for seven months, Kaushani died. He was two and a half years old. His home is in Kushtia.

Families need psychological support

When a child gets sick, it affects the whole family. And, if a child in the family is diagnosed with a rare disease like SMA, there is no limit to the anxiety, emotional stress, and financial expenses of the parents. Since SMA cannot be treated in any specific medical center and there are no guidelines for this issue in the country, parents have to bear more suffering. In this situation, their emotional support is essential.

In an article on SMA Europe, Dr. Demir wrote that psychological support is also crucial for parents whose children are diagnosed with SMA. Their regular counseling is essential.

Concerted action is needed
Although drug initiatives have been taken, there is not much initiative in Bangladesh regarding the adjunctive therapies required for this disease. Even, another reason for the high cost of medicine, the disease is still not listed by the government as a rare disease in the country. According to the stakeholders, the price of medicine is high due to the addition of additional tax in the case of importing medicine. Stakeholders demand that the disease be listed as a rare disease soon. Then at least the price of medicine will be lower. Because, the drug for this disease is currently listed in the general category. So, the tax comes more. Besides, the government needs to come forward in this regard.

However, the stakeholders claim that there is a need to conduct more awareness activities in this regard, so that the public can know about the SMA disease. Then it is possible to get the primary solution of two issues. First, it will be possible to get tested and treated just by looking at the symptoms of the disease. Second, if there is a consanguineous marriage, the couple will be interested in doing the amniotic fluid test during pregnancy.

But maybe in our reality, there is no demand for genetic testing before marriage. However, in many European countries, including Iran in the Middle East, there is an obligation to test in such cases before marriage. Even the matter is done with government funding.

Example can be the experience of India
Neighboring country India has progressed a lot in the treatment of this disease. The number of infected patients in the country so far is more than 500. With the help of this large number of patients, the private initiative 'Cure SMA Foundation of India' has been formed in the country. This foundation works in liaison with the country's government and pharma companies. In the meantime, through the Compassionate Program and the Humanitarian Access Program, the sick children are getting Spinraza and Rizdiplom, the world's most expensive drugs needed for this treatment. At the same time, this organization of parents works to get DGCA's approval and overcome legal complications in the use of drugs that are not approved in the country but have passed the 3rd phase trial. Cure SMA Foundation of India formed an SMA Task Force with 22 doctors from across the country. Due to this task force several patients across the country are getting free medicines. This organization of guardians of the patients keeps track of the day-to-day welfare of the affected. It has also released a calendar for 2021 featuring the drawings of children and teenagers who have discovered their talent.

What the doctors say
The director of the non-communicable disease control branch of the Department of Health, Dr. Md. Robed Amin told Risingbd, “In a country with a large population, ensuring healthcare is a big challenge. We are constantly striving to meet this huge challenge. For example, we are currently working on dengue. There is an outbreak of dengue in the whole country now. The reality is that it is not always possible for the government to give much importance to rare diseases like SMA. However, the government has plans for such diseases. Hopefully, the issues will be important in the planning in the coming days.

National Institute of Neuroscience Hospital Pediatric Neurology Department Junior Consultant Dr. Zobaida Parveen told Risingbd, “Our country does not have a complete system for diagnostic tests for this disease. However, Neuroscience Hospital has taken several initiatives in this regard including opening SMA clinic, increasing the scope of treatment, ensuring the availability of medicines. Apart from this, if the government comes forward, we hope to show a ray of hope to the patients.

He said, recently National Institute of Neuroscience Hospital, Switzerland-based research institute Roche Bangladesh and Bangladesh's largest drug manufacturer Radiant Pharmaceuticals have signed a tripartite agreement to increase the scope of SMA treatment. According to the agreement, the mentioned three institutions will help the doctors to improve their skills and treatment through information exchange.

Bangladesh Children's Hospital and Institute Associate Professor Dr. Shaoli Sarkar said, we are going to start 'Neuro Muscular Clinic'. Here the related patients will get one stop service. Besides, we are undertaking some other activities for the welfare of SMA patients.

Children's hospital started treating the first SMA patient in the country with Olivia Sanchari Nabani's oral medicine 'Rizdiplom'. Roche Bangladesh provides this medicine free of charge. Apart from this, the SSA patient Sarthak is still undergoing treatment at the Children's Hospital. Using these experiences, the children's hospital is undertaking more activities by giving priority to the treatment of SMA patients, said Dr. Shaoli Sarkar.