Every day, Mona, aged 42, from Minya Governorate, carries her son Abdel Hadi, aged 24, who has spinal muscular atrophy, on an arduous, agonising journey to the hospital, about ten kilometres from home, to receive artificial ventilation sessions, after his health deteriorated and she became unable to provide treatment for him, amid the high price of medicine and the general unavailability in Egypt of the medicines used to treat muscular atrophy patients. During her long journey, the mother cares less about the hardship of the road than she fears that no specialist doctor will be available at the hospital to deal with her son’s condition, which usually happens, and she is forced to return without receiving any treatment.
Mona tells Zawia3: ” I am the mother of three sons who suffer from muscular atrophy. The eldest is Abdel Hadi, 24 years old, followed by Mohamed (21 years old) and Abdel Rahman (14 years old). No treatment or medical care is available to them, but the biggest problem is the breathing difficulties that Shafei suffers from, which require special care and respiratory devices. Nevertheless, we face great difficulties because of the shortage of resources available for treating atrophy patients and the lack of medical expertise in diagnosing the condition accurately.”
She adds that her three sons do not have any kind of health insurance and receive no support from government hospitals, despite her previous attempts to obtain assistance from the “Takaful and Karama” programme. As for the costs of treatment, she stresses that she bears them entirely from her own resources, noting that Abdel Hadi continued receiving treatment for a long time without any improvement, as did his brothers.
Speaking to us, Mona calls for the provision of respiratory devices and the necessary care for muscular atrophy patients, stressing that this is an urgent demand, as well as the provision of appropriate medical care for them, especially given their pressing need for continuous treatment to improve their quality of life and ensure the stability of their health.
Muscular atrophy patients in Egypt have recently been facing a crisis related to the unavailability of medicines and the sharp rise in their prices, in light of the medicine shortage crisis in the Egyptian market resulting from the rise in the price of the dollar. In addition, patients suffer, according to what they told Zawia3, from a shortage of the medical services provided to them and the unavailability of the medical specialities that treat the disease in government hospitals, despite the repeated initiatives and promises over the past years to provide medical and therapeutic services for them, as well as the Health Insurance Organisation’s failure to implement binding court rulings to treat “Duchenne” atrophy patients.
Muscular atrophy and its treatment
Doaa Atef Makkawi, a consultant and lecturer in neurology at the Kasr Al Ainy Faculty of Medicine, tells Zawia3 that muscular atrophy, according to the common use of the term, is muscle weakness, but not everyone with muscle weakness can be considered an atrophy patient, because the medical and scientific description of atrophy is a reduction in muscle mass. The size of the muscle may be normal while functionally it does not work well, and in some cases the weight of the muscle may be greater than normal, but this is a false increase. Therefore, not every weakness in the body’s muscles can be described as atrophy, since atrophy is linked to the functions of the muscle and not its size.
She explains to us: “Muscle diseases in general fall into two categories. The first is primary diseases, meaning there is a problem within the structure of the muscle itself or its components, and the second is secondary muscle diseases, which arise in the body as a result of another disease that has weakened the muscle, such as thyroid or adrenal diseases, whose complications may lead to muscle weakness. In this case, treatment first requires addressing the underlying cause, namely the gland disease or the resulting rise in cortisone in the blood, and thereby treating the muscle weakness. There is a third cause related to some medicines whose side effects may cause muscle weakness.”
Doaa points out that there are no accurate studies or statistics in Egypt on the number of muscular atrophy patients, but global studies indicate that one in every five thousand to ten thousand people develops muscular atrophy, specifically the most common type, which is genetic muscle diseases; as for the second type, secondary muscle diseases, there are no specific figures regarding them.”
Doaa notes that muscular atrophy diseases are rare diseases, and therefore there are no broad medical specialities in this field. Moreover, until recently there were also no specific medicines for them, but with advances in research a list of medicines has been reached for the various types of muscular atrophy, foremost among them (Duchenne), the best known, which is one of the dangerous types of muscular atrophy because of its serious complications.
According to the consultant and lecturer in neurology at the Kasr Al Ainy Faculty of Medicine, many medicines for muscular atrophy are available in Egypt; some of them are unavailable, but most are present. However, obtaining them first requires confirming that the patient has a type of genetic atrophy, which requires him to go before more than one committee to diagnose his condition accurately, and it also requires completing some other procedures to obtain the medicine.
As for the alternatives available to the patient, Doaa says that when medicines are not available, the focus is on preparing a physiotherapy programme tailored to each patient. This programme requires the supervision of specialists experienced in physiotherapy, particularly in dealing with muscle diseases. The main goal is to help the patient maintain the health of the muscles without straining them, while continuously strengthening their functional capacity. Additional support is also provided to the patient through the provision of assistive devices and clear guidance for dealing with his condition, and through a focus on continuous communication with the patient to identify any problems he faces and work to solve them, which helps him adapt to the disease, especially in the absence of a definitive cure for these conditions.
She explains to Zawia3 that treatment is not limited to dealing with muscle problems or weakness; rather, patients with these conditions often face problems in other organs. For example, muscle diseases that affect the muscles close to the trunk, particularly in the upper and lower limbs, may extend their effects to the heart muscle, putting the patient’s life at risk because of heart problems. It therefore becomes necessary to cooperate with other medical specialities, such as cardiologists and psychiatrists, especially as some patients may suffer from frustration or depression as a result of their condition. There are certain muscle diseases accompanied by symptoms such as anxiety and stress, in addition to the effect of the illness on the patient’s psychological state in general.
She adds: “Also, in some cases we need to strengthen the affected muscles and rehabilitate the patient so that he can move again, whether using assistive devices such as a cane or walkers. It is therefore necessary to have continuous communication and coordination between the different medical specialities to ensure comprehensive care. The main goal is to preserve the lives of these patients and their quality in the best possible way until the final moments.”
Medical websites define muscular atrophy as a group of hereditary diseases that cause progressive weakness and deterioration of the skeletal muscles that control movement. The effect of the disease varies from one person to another, according to specialised medical websites, but it usually leads to a gradual loss of the ability to move, and the condition may reach severe disability or death in some cases. The disease includes several types, and its symptoms and severity vary according to each type.
Among its best-known types is spinal muscular atrophy (SMA), which is the most common among children and causes muscle weakness and loss of motor coordination. Duchenne muscular dystrophy is also one of the well-known types; it mostly affects boys and appears in early childhood. Muscle weakness begins in the lower limbs and can gradually affect the respiratory muscles. There is also facioscapulohumeral muscular dystrophy, which affects the muscles of the face, shoulders and arms and begins in adolescence, while limb-girdle muscular dystrophy affects the muscles around the shoulders and thighs and may appear in childhood or adulthood.
Court rulings without implementation
Zawia3 contacted a number of muscular atrophy patients and their families in Egypt, who revealed that years ago they had obtained court rulings for their children to receive lifelong treatment free of charge from the Health Insurance Organisation, but the decisions have not been applied to this moment because of the Health Insurance Organisation’s intransigence towards them. Mina Nagy, father of the child Saeed, who has “Duchenne”, one of the best-known types of muscular atrophy in Egypt, tells Zawia3 that he obtained a binding court ruling for his son’s treatment in 2023, but it has not been implemented to this moment, noting that the Health Insurance Organisation notified them that the medicine was unavailable, even though the Ministry of Health had announced earlier that the medicines were available.
The Ministry of Health had announced in June 2021 an initiative to provide treatment for muscular atrophy patients, in line with a presidential initiative to treat them. At the time, the ministry said it had allocated 24 medical centres to receive people with muscular atrophy and to provide the medical service by making gene therapy available to affected children through the health insurance and comprehensive insurance programmes. In addition, in July of the same year the ministry signed a cooperation protocol with the company “Biologix” to provide treatment for children with muscular atrophy over the age of two.
In August 2021, the ministry announced the provision of treatment to a number of muscular atrophy patients at the spinal muscular atrophy treatment centre at Nasser Institute, in implementation of the presidential directives to treat patients and take their humanitarian circumstances into account. At the time, Dr Mahmoud Saeed, director of Nasser Institute, explained that this move reflected the state’s keenness to realise a long-awaited dream, given the high cost of the treatment, which reaches $3 million, making it inaccessible to most patients, noting that “ Egypt has provided this medicine to its citizens, which the richest countries in the world have not done.”
Years ago, specifically in 2021, the Administrative Court of the State Council obliged the Ministry of Health and Health Insurance to include muscular atrophy (Duchenne), as well as its treatment (the drug Amondys 45), in the protocol of the ministry and Health Insurance. However, Sherifa Metawea (head of the Egyptian Association for Muscular Atrophy Patients in Egypt) stresses, speaking to Zawia3, that the decision has not been applied until now, even though a number of patients obtained other rulings years ago proving their entitlement to the medicine, and despite the many initiatives that have called for the provision of the drug and the necessary medical care.
Article 18 of the Egyptian Constitution states that “Every citizen has the right to health and to comprehensive health care in accordance with quality standards, and the state guarantees the maintenance and support of public health service facilities that provide their services to the people and works to raise their efficiency and their fair geographical distribution. Likewise, Article 1 of Law No. 99 of 1992 on health insurance for students states: “A system of health insurance for students shall be established in accordance with the provisions of this law, and shall include in particular the following categories: kindergarten children, students in the stages of basic education, and students in the stages of general and technical secondary education.”
Sherifa describes the lives of patients as continuous suffering. She tells us that no medical care at all is available for muscular atrophy patients in Egypt, and with the low number of doctors specialising in this field and their unavailability in public hospitals, patients and their families find great difficulty in receiving medical care. In most cases where complications occur, the patient is unable to receive medical or therapeutic services inside hospitals, which puts his life at serious risk and represents pressure and a burden on his family.”
The second form of suffering faced by muscular atrophy patients, according to Sherifa, relates to the unavailability, to this day, of medicines in Egypt to treat muscular atrophy patients. Here she explains the differences between its types and their multiplicity, reaching about 30 types. Despite the many initiatives aimed at providing the medicine, nothing has happened on the ground, and patients are still suffering daily, given the unavailability of medicines inside Egypt, the high prices of imported medicines and the inability of most of them to obtain them”.
Sherifa says there are no specific figures for people with rare diseases, but global statistics say that one in every 3,400 people suffers from a type of muscular atrophy disease around the world. Applying this ratio to Egypt, the approximate number of patients exceeds one million people, all of whom suffer because of neglect, marginalisation and the absence of realistic measures to deal with them, and they also face an unknown fate given the unavailability of medicines. She adds that there is a recently developed gene therapy that offers a complete cure for the disease, but the price of the injection reaches EGP 150 million. It has been made available to patients in some countries such as Saudi Arabia, Qatar and the UAE, but the Egyptian Ministry of Health has not begun any procedures to provide the medicine to this moment.
Sherifa continues: “We want real measures to help us and provide the necessary medical care for us. To this day there is only one department for muscular atrophy patients, at El-Demerdash Hospital, and it is a new department that is insufficient to receive all patients. We also demand that the medicine be provided to us, and that the provision of gene therapies that may help us recover be studied. What we want is action, not merely initiatives and celebrations that take place every year, while the daily suffering continues and we face daily hardship in life”.
Suffering the government does not notice
Hanaa Abu El-Saad, a teacher from Beheira Governorate, says: ” My son is 8 years old and has spinal muscular atrophy. We began to notice symptoms of the disease when he was very young, such as delayed walking and difficulty moving his limbs. After many visits to doctors, it was confirmed that he had this rare disease, and since then our suffering began.
Hanaa adds, speaking to Zawia3: “The biggest problem we face is the unavailability of the medicines needed to treat him. The only available treatment is the Swiss drug “Zolgensma”, a gene therapy whose cost reaches $3 million, a sum beyond the means of any family. But there are other, cheaper medicines that the Ministry of Health or Health Insurance is supposed to provide. I have tried in every possible way to contact government hospitals to obtain treatment, but the answer was always that resources are limited and that I have to wait, without any clear dates being set.”
She continues: “My son also needs continuous physiotherapy sessions to preserve what remains of his motor ability, but even these sessions are very expensive and I cannot afford their cost on a permanent basis. We rely on assistance from civil society associations or some doctors who offer small discounts, but it is not enough. What hurts me most is the feeling of helplessness before my son when he asks me why he cannot play like other children or even walk normally. I try to lift his spirits, but the truth is painful. I hope the state will take care to provide this treatment, or at least support families financially to ease the burden. Therefore, I appeal to the Ministry of Health and officials to look at this issue with an eye of humanity, for muscular atrophy patients do not have much time, and delaying treatment means their condition deteriorates faster. Every day that passes without treatment is a step towards the worse.”
Mahmoud El-Ghitani (45 years old), from Assiut Governorate, tells Zawia3: “My daughter is 11 years old and has muscular atrophy. Her illness began to appear gradually from the time she was four years old. We did not realise the seriousness of the condition at first, but over time she became completely unable to walk and relies entirely on a wheelchair. Our biggest problem is the cost of medicines; the treatment available globally is very expensive, and no simple family like mine can afford its cost. I work in agriculture, and my income barely covers the family’s daily needs. Even the periodic tests and simple medicines my daughter needs have become a great burden on us.”
He adds: “I have tried many times to submit requests to the Ministry of Health and charities, but the responses are always discouraging. I was told that there are attempts to provide treatment free of charge for some cases, but it seems impossible for us. We suffer in silence, and all I wish for is that my daughter gets a chance to receive the treatment she deserves. What adds to our suffering is our area’s lack of specialised medical services. Whenever we need to consult a specialist doctor, we are forced to travel to Cairo or the major governorates, which requires additional expenses that we are unable to bear.”
In the same context, Fatma (32 years old), from Giza Governorate, tells Zawia3 that she is living a bitter reality because her daughter (14 years old) has muscular atrophy. She recounts: “Since Mariam was five years old, we began to notice difficulty in her movement and a marked deterioration in her ability to walk. The beginning of the story was very difficult, as the doctors were at first unsure of the cause, but after a series of examinations and tests, she was diagnosed with the disease.
She adds: “The shock was great for us as a family, because I had hoped to see my daughter go to school and play with her friends like other children. But over time the situation became more difficult. The available medicines were not fully targeted at the disease; they were only painkillers and did not help slow the deterioration. Another problem we face in treating Mariam is the cost of the medicines, which ranges between EGP 3,000 and 5,000 a month, in addition to the physiotherapy sessions she needs continuously. These medicines are often unavailable in local pharmacies, and when they are available, their prices are very high, which makes it difficult for me to bear these costs.”
She continues: “ I live with Mariam these days feeling helpless before her. She can now barely stand on her own and always needs help to do any simple activity. I try to be strong in front of her, but the situation is extremely difficult. My only dream is to see my daughter able to walk and play like other children.
Patients facing the spectre of death
Mahmoud Fouad, a human rights lawyer and director of the Egyptian Center for the Right to Medicine, tells Zawia3 that muscular atrophy patients in Egypt face extremely difficult conditions amid the shortage of medical resources and the unavailability and high price of treatment. He explains: “We obtained court rulings from the State Council obliging the authorities to provide treatment for patients, but implementing these rulings faces great difficulty because of the exorbitant costs. If we succeed in providing integrated departments for examinations and tests in government hospitals, this will be a great achievement that helps patients obtain the care they deserve and eases their daily suffering with the disease.”
Fouad adds, speaking to us: “Six years ago, two patients, Samira and Osama, contacted us at the centre; they later lost their lives because of complications of muscular atrophy. These cases were part of a group of 25 patients who came from different governorates seeking help. At that time, we were striving to contact the competent authorities to provide supportive medicines that boost immunity and improve the patients’ condition, in the absence of a direct treatment for this disease.
Fouad continues: ” In addition to treatment, muscular atrophy patients need to undergo periodic examinations and tests every six months at a cost of more than EGP 4,000, that is, about EGP 8,000 a year, which is a heavy burden on patients, most of whom belong to very poor groups and do not enjoy any regular financial support.”
The director of the Egyptian Center for the Right to Medicine says that “thanks to joint efforts with Dr Ahmed Emad, the minister of health at the time, four specialised departments were established inside university hospitals to carry out the necessary examinations and tests for muscular atrophy patients, which contributed significantly to easing the financial burden on patients”. Nevertheless, the disease remains a great danger, especially when its effects worsen and reach the heart and lungs, as at this stage the disease becomes fatal. Unfortunately, this painful end was what both Samira and Osama faced, as their condition deteriorated rapidly when their heart and lung functions were affected, leading to their deaths a short time apart.
He continues: “Another problem facing muscular atrophy patients is the exorbitant cost of treatment. For example, the cost of a single injection reaches EGP 33 million, which is an extremely large figure. We are constantly trying to find solutions by contacting various bodies, and we had fruitful cooperation with Dr Nagia Fahmy, head of the neurology department at Ain Shams University, who provided great support in setting treatment protocols and providing accurate data on patients. But the challenges remain, as we have seen thousands of patients register at Nasser Institute seeking treatment, which forced the authorities to set strict conditions to reduce the number. Despite this, the number is still large compared with the available resources.”
Fouad explains that patients have significant rights, not only medical but also economic and social. The state does not neglect supporting patients through multiple means, including “Takaful and Karama” pensions, monthly allowances from the Ministry of Social Solidarity, and the facilities provided by the ministries of transport and culture. Nevertheless, the main challenge remains providing specialised departments for muscular atrophy patients in every university hospital, given the importance of having neurologists qualified to deal with these cases.
Keen to obtain an official response to the crisis, Zawia3 contacted a number of doctors and officials at the Health Insurance Organisation, the Ministry of Health, the Kasr Al Ainy hospitals and the Ain Shams Faculty of Medicine, as well as the Chamber of Pharmaceutical Industries. They all preferred not to speak, explaining this by saying they had no information on the file, even though some of them had been responsible, within the Ministry of Health initiative, for following up the file of treating muscular atrophy patients. In this context, an administrative source inside the Health Insurance Organisation spoke about the reason for the failure to dispense treatment to patients under the presidential initiative, stressing that the matter relates to the lack of sufficient financial resources to procure the medicines from abroad.
The source, who spoke to Zawia3 on condition of anonymity, says that this type of medicine costs the state huge sums, as he put it, while no budget is available for this initiative at present; therefore, the Ministry of Health does not commit to dispensing the medicines prescribed for patients. He notes that the medicine crisis does not seem to have a near solution because of the worsening dollar crisis.
In conclusion, the tragedy of muscular atrophy patients in Egypt stands out: they suffer from clear neglect in the provision of treatment and the necessary medical care. Despite official initiatives and repeated promises to provide medicines and specialised medical care, patients and their families still face countless daily difficulties because of the shortage of medicines, high prices and the unavailability of medical specialities in government hospitals.
In reality, this continuous suffering requires urgent intervention by the government and the relevant institutions to guarantee patients’ rights and provide them with the necessary care. It is therefore essential that the state respond to the demands of these patients and work to implement the court decisions relating to the provision of treatment, in addition to facilitating access to gene therapies, which may be the only solution to improve their lives.
