SMA disease: Parents only wait to lose their loved ones

Most of the people have never heard of Spinal Muscular Atrophy (SMA), a rare genetic disease. But it is the truth that many children are born with the rare disease around the world including Bangladesh every year and they are to die without treatment and knowing about the disease.

What is SMA: Spinal Muscular Atrophy (SMA) is a rare and complex congenital disease of the nervous system caused by genetic disorder. As the nerve cells that control the muscles are damaged, the muscles become weak and destroy spinal cord of children. The newborns suffering from this disease continue to weaken. They cannot sit or stand, their necks do not stiff. But they possess normal intelligence. The children with SMA die due to respiratory complications and congenital heart disease.

Number of SMA patients in Bangladesh:  According to the statistics, one in every 6,000 to 10,000 babies worldwide is born with SMA. So, it can be estimated huge number of babies are born with SMA in Bangladesh and ultimately they die, putting their parents and relatives into unmeasurable loss and pains.       

According to sources, there is no specific information about the number of SMA patients in Bangladesh. However, National Institute of Neurosciences and Hospital (NINH) gets some 30 patients with SMA every year while Shishu Hospital, Bangabandhu Sheikh Mujib Medical University and Dhaka Medical College Hospital also get children with the condition every year.

According to sources, there is no system or lab to diagnose this disease in our country. Doctors send samples to India and some other countries to diagnose the disease. In most of the cases, doctors identify this disease by observing some symptoms.

Waiting for death: When asked, a child Swarthak says, “I want to become a doctor for children when I will grow up in future”.  But, the boy does not know about this fate that he is suffering from a rare disease.

                                                              Hafsa who died of SMA

A young couple-Tanzina Eva and Ripon Hossain, residing in the capital’s Mirpur area, are passing their days with huge frustration and grief after losing their beloved daughter.   In last December, their only daughter Hafsa died of SMA disease before the celebration of her first birthday.  “We are not able to accept the loss, Hafsa’s memories are increasing our grief and traumatic stress everyday. We never thought we have to face such a situation and we would not be able to do something for our beloved child”, they say.

Eva says, “Everything was good and normal at the time of Hafsa’s  birth. She used to eat properly, play through moving her arms and legs and try to respond to us. Only the neck was not becoming stiff. We became worried after 5 months. Then, we took her to a child specialist. The doctor suggested us, she may suffer from SMA”.

Another young couple- Farzana-Junayed of Sylhet say the same. Farzana says, “When the doctor told us, it was seemed ‘A bolt from the blue’. I never heard the name of this disease. Later, we confirmed our child is suffering from SMA type-1. We are passing our days with huge tension because we do not understand what to do for the treatment”.

                                                                                   Farzana-Junayed with their child

Junayed says, “Actually, I see my child is dying in front of my eyes. As a father it is very difficult to see the situation… The doctor says children do not live long who suffer from SMA type-1. My baby is seven months old”.

Expensive treatment: SMA tops the list of genetic diseases which causes more deaths of children in the world.
Tanzina Eva, mother of Hafsa who died of SMA disease, says, “Many children are born with SMA in the country. I could not stop crying after hearing our baby’s SMA disease. We didn't understand what to do next. Because, there is no diagnosis scope in our country and the treatment is very expensive. Later, we sent our child’s blood sample to India at a cost of Tk 20,000. We got the report after she had died. We knew our child was suffering from SMA type-1”.

“We have learnt that there was no treatment in the world before 2016. But at present, the disease is being treated in three processes”, Eva says.
It is learnt that a multinational pharmaceutical company, Novartis, has developed a completely gene therapy to treat spinal muscular atrophy in children less than 2 years of age. The US Food and Drug Administration (FDA) has also approved the therapy. This gene therapy costs around Tk 22 crore for a single dose.

It is also learnt that for the first time in Bangladesh, gene therapy was used to treat SMA of 22-month-old baby Raihan for free of cost.  Raihan was lucky selected in a global project lottery and he was given a dose of medicine worth Taka 22 crore.  Raihan is now undergoing treatment at the National Institute of Neurosciences and Hospital (NINH).

Earlier on March 20 in 2022, Roche Bangladesh Limited provided oral medicine at free of cost to a child. On this day, a nine-month-old baby Olivia Sanchari Nabani was fed the first dose of oral medicine. She is now receiving treatment under Assistant Professor of Bangladesh Shishu Hospital & Institute Dr. Shaoli Sarkar. Roche Bangladesh Limited has already got approval for selling the drugs in Bangladesh.

What says doctors about SMA:  NINH Professor Dr. Jobaida Parvin says Spinal Muscular Atrophy (SMA) refers to a group of hereditary diseases that can damage and kill specialized nerve cells in the brain and spinal cord (motor neurons). There are four types of this form of SMA (Type-1, Type-2 , Type-3 and Type-4). Type-1 affects children severely. Without treatment, many children with SMA die before age 2.  About 60-70 percent of children die within one year without treatment. Children with SMA Type-2 can survive about 20 to 25 years. They can sit without support but are unable to stand or walk without the help of others. Children may also have respiratory difficulties, she says.

                                                                              Dr. Jobaida Parvin

There is no complete system to diagnose SMA in our country. In that case, children’s blood is sent to neighboring countries. In addition, SMA can also be diagnosed by testing amniotic fluid through CVS Chorionic Villus Sampling (CVS) during the pregnancy period. Then parents are to take a decision that they will keep a child or not. This test is also not available in Bangladesh.

Dr. Jobaida Parvin says the first gene therapy was given to Raihan, a child suffering from SMA, at NINH. The market price of the therapy per dose is around Tk 22 crore. It is almost impossible for a single family to afford this.

She has made a fervent appeal to the benevolent and affluent class of people, organisations and the government to come forward to save the life of children with SMA. 

Assistant Professor of Bangladesh Shishu Hospital & Institute Dr. Shaoli Sarkar says spinal muscular atrophy is a rare and complex congenital disorder of the nervous system, which is caused by genetic factors. Children with the condition cannot sit or stand and their necks do not stiff.
“We started treatment in our country through feeding ‘Risdiplam’ to a child named Olivia Sanchari Nabani. Roshe Bangladesh provided this medicine at free of cost”, she says.

 

                                                                        Dr. Shaoli Sarker

Dream of establishing genetic lab and foundation in Bangladesh: Guardians of children diagnosed with Spinal Muscular Atrophy (SMA) disease have taken various initiatives to prevent this disease. They have demanded establishment of a genetic lab in Bangladesh.

In this regard, Tanzina Eva, mother of Hafsa who died of SMA disease, says, “We are trying to establish a foundation so that children affected by this disease get access to treatment. We are drawing the attention of the government that there is no genetic lab in Bangladesh.” We have urged the government to take an initiative to establish a genetic lab in Bangladesh as soon as possible, she says.

Shahadat Hossain, father of child Nabani affected by SMA disease, says, “Roche Bangladesh Limited will provide ‘Risdiplam’ medicine free of cost till March, 2024. Then what we will do? We won’t be able to save our babies if we can’t continue the medicine. It should be noted that it is urgent to continue this medicine for life time. But it is not possible to carry out the cost of the medicine for a single family. Therefore, we, the guardians, are giving our best efforts to establish a foundation so that children affected by this disease can get access to treatment.”

Dr. Shaoli Sarker says “Treatment of this disease, especially gene therapy, is very expensive. In most cases, it is very tough to carry out the cost of this disease for a single family. A coordinated action from the state and all walks of life is required to ensure treatment for the children diagnosed with this SMA disease”.

“We hope the children diagnosed with this SMA disease will get access to treatment but it requires assistance from the government and well-off people of the country”, Shaoli Sarker says.

Most of the people in our country are not aware of this disease.  At this moment, we need very much awareness to prevent the disease. Except in rare cases, SMA is inherited in an autosomal recessive manner, so young people can perform blood and some other tests before marriage to avid the complexity, she points out.

The report has been prepared by Md Manzurul Alam with the help of Saif Barkutullah and Amirul Islam