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Saturday, 19 June 2021

Rasheed races against time: The struggle of living with SMA in Egypt

The life of the little boy with spinal muscular atrophy depends on a $2.1 million injection his family cannot afford

Ingy Deif , Wednesday 9 Jun 2021
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Just as he turned eight months old, Rasheed's family felt something was wrong with him. Even his older sister could tell. 

“His growth seemed to be abnormal. He was not like the rest of the children,” his father Yasser Taha said in a televised segment.

“Because the condition is rare, we had our share of misdiagnosis. When he was 12 months old, a paediatrician reassured us and gave him vitamins. Two months later, as his condition regressed, we went to a neurologist, who again misdiagnosed the disease and said he needed physical therapy and then he would recover,” he added.

In an interview with A Final Word programme, broadcast on ON satellite channel and presented by Lamis El-Hadidi, the father explained that after further consultation, the family finally found out what the child has been suffering from: the second type of spinal muscular atrophy (SMA). 

Rasheed's case has trended on social media in the past few days, with a hashtag ricocheting by tens of thousands of people to help the little boy. 

Fast deterioration 

According to the World Health Organisation (WHO), SMA type 2 (SMA2) is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons).

If left without treatment, muscle weakness develops in babies with SMA2 between six and 12 months old. 

General guidelines point out that SMA2 symptoms begin in babies at approximately three to 15 months of age who learn to sit unassisted but do not stand or walk independently. Other indicators include having shaking tremors in fingers and hands.

Prenatal testing is available and can detect if both partners are carriers of the SMA gene. Gynaecologists can test and determine if the fetus had inherited two copies of the SMA gene mutation, thus manifesting the condition.

Pleading for life

Rasheed’s case gained attention when his father released a plea for assistance from the government to help treat his son.

“The genetic mutation that my son suffers from needs an injection that costs about $2.1 million,” he said on Facebook.

Taha asked that his son be treated at the state's expense, because he cannot afford to pay for the injection.

He continued, "I appeal to the president on social media, and I do not know what else to do, but the child must receive the injection before he turns two years old. We have only four months." 

Why the hefty price? 

In 2019 the Swiss-based pharma company Novartis made international headlines when it announced it had received US regulatory approval for a gene therapy that treats a rare childhood disorder and has a price tag of more than $2 million.

This makes it the most expensive drug in history.

At that time, the company issued a statement defending the weight of the price tag, saying the gene therapy was a breakthrough and that the drug Zolgensma is a one-time treatment for SMA, a disease that affects about 1 in 10,000 births and which results in death or the need for permanent ventilation by the age of two in 90 percent of the cases.

A Zolgensma injection is a glimmer of hope as it provides a functional copy of the defective gene responsible for SMA to stop the disease's progression in its track, just by a single injection.

Ongoing trials provided evidence of its effectiveness and found that patients treated with Zolgensma demonstrated significant improvement in their ability to reach developmental motor milestones, including head control and the ability to sit without support.

Dr Ahmed El-Sharqawy, head of research at a major company, told Ahram Online that in addition to raw ingredients and manufacturing, the price of a drug includes the cost of research, the development of the drug, as well as the cost of drugs that did not make it to the end in the market.

“These cost millions of dollars and take years until they pass all the stages, proving that they are effective and not harmful to animals, and then to humans, with no or minimal side effects," he said.

In March 2016, the Journal of Health Economics stated that the cost of developing a prescription drug that makes it to the market is $2.5 billion. 

This estimate was challenged in 2020 by a new study published in JAMA Network that pointed out that the average cost of bringing a drug to the market is $985 million.

Although the estimation took a steep turn, it remains a great indicator of how expensive the whole process is.

SMA challenges in Egypt

The Egyptian Association for Muscular Dystrophy was inaugurated in 2016 by Sherifa Metawei, who is living with the condition herself.

Metawei says the association aims to provide care and guidance for SMA patients. 

There are 600 SMA patients that are registered with the association, she said, but there may be up to 700,000 patients nationwide. 

The majority of them live in rural areas and are not registered for proper care in health facilities. “Families come for support, but they usually keep their patients locked at home,” she added.

Dr Mahmoud Fouad, director of the Egyptian Centre for the Right to Medicine, said SMA patients in Egypt are in a tragic condition, having been facing denial for many years.

“The state did not pay attention to patients with muscular dystrophy in the past, and therefore did not establish special departments in hospitals for this type of disease, despite the presence of more than 11 types of muscular dystrophy in Egypt,” he said.

Fouad stressed that families of SMA patients in Egypt are mostly very poor. Hence, the presence of specialised departments in hospitals to conduct examinations at almost free costs, and with direct support from the Ministry of Health, is very important to reduce their burden.

“Some medications help prevent the deterioration of the patient’s condition and the heart muscle not to stop. Unfortunately, the Ministry of Health has not yet purchased these drugs,” he added.

Fouad pointed out that many former health ministers issued a decision to establish departments for muscular dystrophy patients in major hospitals, and four departments for muscular dystrophy in university hospitals were about to be established, but none of the decisions came into effect.

As the case of Rasheed gains more and more coverage and attention, hundreds of families look forward to receiving support and assistance from society that is increasingly becoming aware of the struggle of SMA in Egypt that was seldom heard of.

 

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