A man in a wheelchair takes part in a protest against cuts to state disability welfare payments in London, Britain, March 23, 2016. REUTERS/Dylan Martinez
CAIRO – 9 December 2018: “A painful life awaiting the sweet relief of death,” this is how Ahmed Agag, a member of the Egyptian Society of Muscular Dystrophy Patients and admin of the Facebook page ‘Patients with muscular dystrophy ask for help,’ described patients suffering from the dreadful disease to Egypt Today. Agag sadly continued, “Patients are not really alive. They are the living dead.”
Muscular dystrophy affects some one million Egyptians, according to several news sources and disease-affiliated groups. Muscular dystrophy, according to Rasha El-Sherif MD, the leading Consultant of Neurogenetics and a Muscular Dystrophy Specialist, targets muscles. They are a group of inherited diseases that affect the muscles progressively, explained El-Sherif, further elaborating, “There are more than 50 types, according to the affected protein or enzyme that is deficient in the body. Most probably it is due to a mutation in one of the genes that is responsible for the proteins that strengthen the muscles. This mutation appears in early age or later in life according to the importance of the deficient protein and its function in the muscle.”
The disease, which is usually caused by inter-family marriage, can start at a very early age, during property or in adulthood, explained Hideo Sugita and Shin’ichi Takeda in their journal paper ‘Progress in muscular dystrophy research with special emphasis on gene therapy.’ They affirmed El-Sheirf’s explanation of muscular dystrophy explaining that muscular dystrophy is a “progressive muscle-wasting disease caused by mutations in the DMD gen.”
The DMD gene is the second largest gene to date. It encodes dystrophin, a muscle protein. Individuals who have a mutated DMD gene sugger from progressive loss of muscle function and general weakness of the muscles; in other words, they suffer from muscular dystrophy. As a result of the disease being linked to genes, it is not curable. However, extensive research from all around the world has proven that treatment of the disease allows patients to live a full live with a good quality of life.
According to R. A. Smith, J. R. Sibert, S. J. Wallace and P. S. Harper in their paper titles ‘Early diagnosis and secondary prevention of Duchenne muscular dystrophy,’ as well as many other publications, early diagnosis is vital to stop the deterioration of the case. Early diagnosis often translates to treatment starting early on, which mitigates many complex issues and secondary complications that may arise.
Diagnosis is quick, explained El-Sherif. “Through a blood test DNA, doctors can see whether there are mutations in the responsible gene. For example, in case of Spinal Muscular Atrophy [SMA], one of the most popular muscular dystrophy strands, the SMN1 gene test that is responsible for making survival motor neuron (SMN) protein or the Dystrophin gene in DMD appears elevated,” she elaborated.
For early diagnosis, El-Sheirf recommends that as soon as a case is suspected, a LE 100 ($5.65) test should be done to measure the amount of the Creatine phosphokinase (CPK) enzyme in the body should be done. CPK is mainly in the heart and skeletal muscle and elevated levels of it indicates that one suffers from muscular dystrophy. Normal CPK levels range from 50 to 200 in an individual that does not suffer from muscular dystrophy, however, for those who suffer from it, its levels rise in the blood. According to El-Sherif, “The level of CPK is also a marker for specialists, as it also indicates which group of muscular dystrophy the individual suffers from.”
Quality of life: early diagnosis, treatment, braces, psychology and nutrition
“The earlier we diagnose, the earlier we start therapy and set standards of care, the better for the patient. It can prevent or at the very least delay its progression,” expressed El-Sherif.
Muscular dystrophy means that the muscles are breaking down, if physiotherapy starts at an early age, then muscles are cared for better and deterioration is slower. Early diagnosis also means that there will be a follow-up on the heart and respiratory muscles, meaning that the patient will live a life with higher quality. Their respiratory systems, which are usually affected, resulting in their frequent trips to the hospital, will be protected and taken care of. In children specially, early diagnosis could mean that the patient will walk until 15 years, instead of being wheelchair-bound at eight or nine years of age. Higher quality of life is strongly tied to early diagnosis, physiotherapy and treatments.
If a patient is undiagnosed or left untreated, they start to develop stiffness in the joints. “They may have good muscle power but they could be wheelchair-bound simply because of problems with their joints. The joints themselves become contracted. This is a bad quality of life, their muscles would still be healthy and yet, they cannot walk because of lack of diagnosis or treatment,” explains El-Sherif.
“Treatment is important but wearing braces and guards to mitigate the relatively quick deterioration of muscles is also important,” explained Hemmat Boghdady. The chemist-turned-businesswomen and Managing Director of MBC for import and export has recently started importing back, neck, leg, knee and other braces and guards for muscular dystrophy patients after coming into contact with patients suffering from the crippling disease. Boghdady found that Egypt is suffering a gap in guards and braces and took it upon herself to try and fill this gap.
She explains, “Guards and braces are not found in abundance in Egypt. And when they are, they are very low in quality. Distributors do not want to take these things because they are too specialized and so they will not fly off the shelves, this has meant that people often do not find these products.” Most distributors, she explains, think of profit. They do not see themselves as a part of the patient’s pain relief process, although they are a vital part. When asked why they are so vital, Boghdady warned, “Taking the treatment without wearing the device that is designed to protect the muscles, joints and bones significantly limits its effect. … Still, it is important to ask your doctor for advice regarding these devices.”
To ensure a higher quality of life, Boghdady recommends three guards/braces, all of which are available for children from the age of two and adults of all ages. First, the ankle-foot guard. As explained by El-Sherif and Boghdady, muscular dystrophy sufferers cannot rest their legs in the right position. This guard, according to Margaret Wahl’s paper ‘Surgery Sometimes, Bracing Often, Caution Always,’ enables resting of the foot and the ankle in the right position and slows down the deterioration of muscles.
Second, back corsets are needed to correct dorsal spine, provide stabilization and corrective effect of postural deficiencies and mild kyphosis. Kyphosis often occurs to patients in the second phase of the disease but can be slowed down by back braces, according to James E. Archer, Adrian C. Gardner, Helen P. Roper, Ashish A. Chikermane and Andrew J. Tatman, all of whom are muscular dystrophy researchers.
Third, knee brace. As explained previously by El-Sherif, children suffering from the disease can become wheel-chair bound for reasons other than the deterioration of their muscles, if living standards are not implemented. This view seconded by much of the publications on the topic. The knee brace is designed to support the knee and help correct knee axis where knee compartments are usually reduced, translating to increased child mobility.
Another issue that is as important as early diagnosis to ensure quality of life is psychological care, explains El-Sherif. If a child suffering from the diseas sees their parents sad all the time, crying or giving up hope, they will give up hope as well. This is also the case for adults who suffer from muscular dystrophy. According to a publication titled ‘Psychological Approach in Managing Muscular Dystrophy Patients in Malaysia’ penned by Elna Herawati Che Ismail and Nooraini Othman, it is also important for carers to seek psychological help if they or the patient starts feeling depressed, a normal side effect of the disease especially during early and late stages. By keeping their and the patient’s stability and happiness in check, Ismail and Othman explain that the patient will be able to fight the disease more.
Another important factor to watch out for to ensure the mitigation of deterioration is nutrition. Nutrition is very important for muscle dystrophy patients, as is usually the case for patients of any disease or syndrome.
All muscular dystrophy patients have to live a healthy life due to the disease’s targeting of muscles. The muscles break quicker than normal in patients. Thus, there is a need for a balanced diet, even more than normal. Fruits, vegetables, proteins and vitamins, especially vitamin D, are vital to mitigate quick progression of the disease, according to the University of Maryland Medical Center.
Patients who suffer from certain strands of the disease need to be more careful about what they eat. According to Muscular Dystrophy Canada website and much of the research out there, for example, Simona Salera, Francesca Menni, Maurizio Moggio, Sophie Guez, Monica Sciacco and Susanna Esposito’s paper titled ‘Nutritional Challenges in Duchenne Muscular Dystrophy,’ patients with Duchenne Muscular Dystrophy need to be more careful about their intake because they take steroids. It is the only effective treatment for Duchenne, explains El-Sherif.
Those who take steroids need to stay away from added salt, preservatives, processed foods and refined sugar to reduce the risk of complications and diabetes. If a patient is not careful while on steroids, they would have to stop taking steroids, which would lead to the fast deterioration of the case. This means that following a healthy regimen is vital.
For children, El-Sherif recommends that sweets and crisps should not be consumed. She stresses the importance of healthy food and urges grandmothers to treat their grandchildren to toys instead of sweets.
Spotting the disease, as explained by El-Sherief
For parents, my advice would be to go see a muscular dystrophy specialist if your child cannot support their neck or back by three months and six months, respectively. If your toddler cannot climb the stairs like other kids, run or jump, please, please, please seek medical help.
For those over 19 years of age, if you find yourself no longer being able to do sports that you used to, walk as much or climb the stairs like you used to, go to a specialist in muscle dystrophy. In those over 19, you start to gradually lose the ability to do as much sports as you used to or move around as much as you normally would. For adults, it could also present itself via pains in muscles, arms and legs. Sometimes it starts from the arms and the patient cannot raise their arms or carry heavy objects.
Living with the disease: Heartbreaking testimonies from true heroes
Sherifa Motawea suffers from the crushing disease, so does her son. Motawea is the President of the Muscular Dystrophy Patients’ Association, member in several muscular-dystrophy-related organizations and a housewife, has been suffering from the disease for decades now. In her family, there are 13 cases of muscle dystrophy.
In an interview with Egypt Today, Motawea expressed her grievances concerning the way that people treat sufferers of the disease. “The way people look at us is difficult. They look at us like we have no right to live, like we are a burden. They do not think that we are capable of doing anything for ourselves. I know that I need help when it comes to moving but I also know that there are certain things that I can do myself, they do not treat me like I can do those things,” Motawea explained.
Motawea lives a difficult life. For her, movement is difficult, she fears having to sit on a wheelchair. “If I sit on a wheelchair, it will be the end. The streets are not ready for us in most of Egypt. I will not be able to go anywhere,” the hero shares emotionally.
When asked whether she ever worked, Motawea revealed that between the lack of appropriate jobs for them and the expenses of living with the disease, she has spent most of her and her husband’s money. “We need more jobs suitable for us. The Ministry allocates work for us already but many of us were not able to finish their education, so they cannot fill these positions.” Adults with muscular dystrophy can only do certain jobs that do not require a lot of movement and they need someone to take care of them too. They require a carer at a certain stage, which is expensive.
On the topic of taking care of her child, the mother explains, “Taking care of my child is very difficult. I would have been difficult taking care of my child but it is extremely difficult taking care of a child with muscular dystrophy. I am in pain all the time, and so is he.”
Motawea pleads, “Do not look at us in sympathy, we are different but not any less. If you really want to help me, or help us, push for our rights, demand that hospitals be built and centers for us be established. Really help us, do not feel sorry for us.” What we need, according to her, are informative campaigns letting people know what the disease is, how to deal with sufferers of muscular dystrophy and its causes and real treatments. “Most importantly, I want a campaign to inform people of the causes. We need to stop inter-family marriages. This is what got me here, this is why I am unwell.”
Asmaa Ahmed, a sufferer of the disease, is not able to move without help at the young age of 22. Single and in constant need of help, Ahmed blames her parents for not treating her at a young age. “When the doctors said there is no cure, they stopped the treatments. Today, I am immobile. I cannot eat, drink or go to the loo on my own.” The high price of treatments combined with the belief that she is among the living dead led her parents to stop sending her to physiotherapy and so on.
Embarrassed that she cannot help her diabetic mother and is in need of care by her, Ahmed suffers from low energy due to a negative psychological state and has re-occurring harmful thoughts. “I am from Fayoum. We go to Cairo to see the doctor. Sometimes, my mother gets a diabetes comma during our journey. We have had to stay in transportation facilities while she regains her consciousness. I cannot help her,” Ahmed said, almost breaking down.
Asked if she works, Ahmed revealed that she did launch a project at some point but without success. In an attempt to conquer the disease and get her life on track, as well as make money for the treatments, the fighter launched a Facebook page marketing different products. Ahmed says, “I was trying to sell natural products and accessories. Women-oriented products, basically, but everyone that contacted me wanted to know where the shop was. They wanted to see the products first. I did not have the space for a shop or the physical ability to manage one. … I failed.” A heartbreaking testimony from a true hero.
At the age of 47, Yasser Zaky Abdel Aziz is the third oldest individual in Egypt living with muscular dystrophy. Aziz has been suffering from muscular dystrophy since his childhood, and so is his younger brother. Unmarried, both men live with their father. “We have no joy in life. It is expensive to live with the disease. We do not have jobs and so, we cannot do anything. We have no way to enjoy life,” expressed Aziz to Egypt Today.
Life is difficult of Aziz whose dad is disgraced from due to his illness, according to the sufferer. “He does not want people to see me so I do not bring him shame. He does not allow me to go out,” revealed Aziz. Living on benefits and being unemployed because of his condition and the fact that he had to leave school during primary school because of the disease, Aziz finds himself highly dependent on his friends. “I cannot go to the bathroom on my own. I have to call one of my friends. Sometimes they are there. Sometimes they are not. I got diabetes due to lack of care and not going to the bathroom as much as I should. Diabetes and muscular dystrophy, a painful life.”
Asked what sufferers need, Aziz said, “I do not want anything for myself. All I want is for the government to do a gene test before a couple gets married. We need to raise awareness of the disease. We need to know if they will produce a healthy child. Do not anyone else get this disease in Egypt. We cannot have more sufferers. … I do not wish this upon anyone.” A selfless gesture from a suffering soul, his words ring loud and clear.
Another heart-aching testimony was given to us by Mohamed al-Aggar’s mother. Aggar, 11, suffers from muscular dystrophy and feels like he is alone in his fight for life, explains his mother, who did not wish for her name to be revealed. “My son is depressed from his disease. He has seen his older brother die two years ago because of it. All that is occupying his mind is that he will die, like his brother did. He is a smart kid and has potential. He will tell you information that you did not know even though he is very young and no longer attending school, but he will die like his brother did,” spoke Aggar’s mother, a sad tone occupying her voice.
A brave mother with a dead son and another one that will eventually die, every time she learns that a family member is pregnant she fears for the child’s health. “When daughter got pregnant, I was petrified. What if her child has muscle dystrophy? What if she has to suffer seeing her child die like I did?” Aggar’s mother honestly told to Egypt Today. “I live in constant fear that my son will die. I wish he did not have to die but I know that he will. I am scared for others. Dear God, don’t let there be others who suffer from this disease.”
Having spent all her money on her children’s treatment without much to show for it, Aggar’s mother is desperate to find a solution but is aware of the harsh reality: there is no cure.
Others interviewed told Egypt Today about their imprisonment in the chair and their life being wasted. Ahmed Kamel, a sufferer, said, “I am imprisoned forever in this chair. No future. No potential for success. Nothing. All I have is this chair.” Others revealed the need for electronic chairs provided by the government due to their high prices, while some wanted the Ministry of Health to work on a cure for the disease. “We are the founders and pioneers of medicine,” spoke Mona Elamrousi, a sufferer of the disease, continuing, “Egyptians are very smart. We are capable of finding a cure if we work on the matter. The Ministry does test the treatments that are approved in the U.S. and other countries but I plead that they start searching for a cure themselves.” In an optimistic state, Elamrousi said, “Egyptians are capable of finding a cure.”
Those who suffer from muscular dystrophy lead a very difficult life, and their families do too. For children that suffer from muscular dystrophy, the parents need to send them to special schools and there is a need for constant close care, a fact revealed during many interviews. One of the parents often has to give up their career to take care of the child, or children, sometimes. However, the Ministry of Health is now working to test and approve FDA-approved (U.S. Food and Drug Administration) treatments. The Ministry does very rigid tests and research on each treatment before its approval, meaning that once it is approved it is 100 percent guaranteed, a process that ensured Egyptian patients do not consume ineffective medicines.
Moreover, Parliament has invited doctors, including El-Sherif, to speak in front of the Health Committee about muscular dystrophy with the aim of including sufferers of the disease to the list of people who are considered as disabled, meaning that they will be able to seek benefits that will facilitate their lives. To help sufferers further, the new and comprehensive Universal Healthcare System is set to ensure better quality of living for all Egyptians.