Sherifa Metawea, in her fifties and born in Suez governorate, has suffered since birth from hereditary muscular dystrophy, which confined her to a wheelchair a year ago, specifically in 2023. Sherifa was not the first case of limb-girdle muscular dystrophy, known as LGMD, among her family members; she is one of 13 people affected by this disease. The costs of treating her illness have weighed heavily on her, exceeding EGP 4,000 a month for physiotherapy and medication.
Sherifa tells Zawia3: “The treating doctor at EgyptAir Hospital in Heliopolis asked us to do a genetic test to find out the type of genetic mutation. We were surprised that it was not available in Egypt, which led us to hand the sample to a laboratory in Egypt, which in turn sent it to a laboratory specialising in pathological and genetic tests in Germany in September 2018, at a cost of EGP 5,000 at the time.”
Sherifa, who heads the Egyptian Association for Muscular Dystrophy Patients, calls for the establishment of a world-class medical centre in Egypt covering all specialties, where all pathological and genetic tests could be carried out without being limited to a particular disease, so that people with genetic diseases can identify and diagnose their disease before it is too late. She points out that delays in carrying out tests and receiving results after sending them abroad cause some patients to lose their chance of treatment, especially since Duchenne patients who do not receive treatment before the age of two cannot be treated, revealing that the late arrival of test results recently cost one patient his chance of treatment.
According to the official website of the Centers for Disease Control and Prevention, affiliated with the US Department of Health, limb-girdle muscular dystrophy affects about 2 in every 100,000 people of all ages. Males and females are equally affected, and symptoms of muscle weakness begin in childhood or adulthood, with the age at which muscle weakness begins depending on the type. Its symptoms appear first in the upper arms and upper legs, and it can affect the heart, spine, hips, legs and trunk; however, there is no count of the number of people with this disease in Egypt.
According to Cleveland Clinic hospitals, founded in 1921, with branches in Ohio, Florida, London, Nevada, Canada and Abu Dhabi, limb-girdle muscular dystrophy occurs as a result of changes in the genes responsible for healthy muscle structure and function, or hereditary factors. It causes heart problems such as cardiomyopathy and irregular heartbeat, difficulty breathing, difficulty swallowing (dysphagia), joint stiffness, muscle cramps and enlarged calf muscles. Possible complications include delayed development of motor skills (walking), intellectual disability and learning differences, kyphosis, especially in cases affected since childhood, respiratory insufficiency or failure, and malnutrition due to eating and swallowing problems.
Although Health Minister Khaled Abdel Ghaffar opened, in September 2023, Egypt’s first integrated laboratory for pathological and genetic tests at the Egyptian Center for Disease Control, in cooperation with the global company Roche, a leader in pharmaceuticals and diagnostic tests, HDV Egypt, a leader in diagnostic tests and the official representative of the global company Illumina Inc. in genetic sequencing tests, the laboratory does not yet carry out all the tests for rare diseases.
This comes at a time when people with genetic diseases need genetic tests to identify the gene causing the disease so that it can be diagnosed accurately, tests that may not be available in Egypt, pushing patients and their families to send samples abroad, specifically to the Centogene laboratory in Germany.
According to Magda Rakha, former undersecretary of the Ministry of Health for central laboratories and chair of the board of the Friends of Bleeding Disorder Patients Association, speaking to Zawia3, there is no clear count of the number of people with rare diseases in Egypt because of their diversity, but about 80% of those affected are due to genetic factors. She attributes the fact that not all genetic tests are carried out in Egypt, with patients having to send their samples abroad, to the lack of the equipment needed for this type of genetic testing and the shortage of reagents containing the chemicals, because of their very high price, their not being registered in Egypt, or the lack of a trained workforce.
Centogene was founded in 2006 and focuses on rare, metabolic and neurodegenerative diseases, working to address the patient’s entire journey. Headquartered in Rostock, Germany, it also has sites in Boston, Massachusetts, Berlin, Germany, and Rotkreuz, Switzerland. It has a specialised biological database on rare diseases comprising more than 800,000 individuals, at a time when there are 350 million patients with rare diseases and about seven thousand rare diseases, while the number of approved treatments does not exceed 5%.
Centogene specialised in this field to become the leading data-driven rare disease company, extending its diagnostic footprint far beyond its German roots: it has diagnosed more than 2,500 rare diseases in 100 countries, becoming a network of more than 30,000 doctors with the widest range of diagnostic tests for rare diseases, covering more than 19,000 genes using more than ten thousand different tests, which has enabled them to revolutionise the early detection of rare diseases, in addition to their treating 100 rare diseases within ten years.
4 Million People with Rare Diseases
According to Ghada El-Kammah, professor and former head of the Department of Genetic Diseases at the National Research Centre, 4% of the Egyptian people have genetic diseases, equivalent to an average of four million people.
Tarek Omran, head of the Clinical Pathology Department at Al-Azhar University’s Faculty of Medicine, explains that genetic laboratories in Egypt do not carry out genetic tests for all people with rare diseases because reagents for some of them are not available, in addition to the laboratories not being ready to carry out these tests as required. Some rare diseases are indeed tested for, but not all of them, which pushes these patients to have the tests done abroad.
This comes at a time when there are many genetic diseases, some known and some still unknown, so no single country’s medical staff can carry out medical tests for all rare diseases, according to Omran, who adds: “A rare disease does not necessarily appear in a child immediately after birth; some may take time to appear and be diagnosed, and because reagents for some diseases are not available, samples are sent to laboratories abroad for testing and diagnosis. Officials are doing their utmost to detect rare diseases within the available capabilities.”
He points to the need to speed up the testing and diagnosis of cases so that they receive treatment in time and do not lose their chance of treatment, while the stem cell bank at Mansoura University needs development and to be supplied with the necessary medical capabilities, considering raising the efficiency of scientific research the optimal solution.
Yassin Mahmoud, professor of clinical pathology, agrees with Tarek Omran that many genetic tests are not available in Egypt because of the high cost of the equipment used to carry them out, in addition to the high cost of chemicals, whose price may exceed hundreds of thousands, so that even large laboratories cannot provide them. They therefore contract with laboratories abroad in Germany, France, the United States and India, because no one can bear that cost, which places additional burdens on the patient. He calls for this type of test to be carried out in government laboratories by including it in the health insurance system, because currently the cost on the patient is doubled.
Complications
Marwa Moneim, in her forties and born in Alexandria governorate, has suffered because her two daughters have haemophagocytic lymphohistiocytosis, one of the rare diseases affecting the immune system, which causes white blood cells to attack other cells, the liver and the spleen. Its symptoms include high temperature, skin rash, an enlarged liver, anaemia, bruising and bleeding, and it also leads to organ failure, according to Great Ormond Street Hospital for children in London.
Marwa says: “My first daughter, Waad, died at the age of nine in 2020 after a bone marrow transplant, while the younger, Raghad, who is eight, suffers from the same disease. I wrote to Bambino Gesù Hospital in Rome to follow up on my daughter’s case, and they asked me to send the child’s blood sample to carry out her genetic tests and examine it. But most shipping companies refused to send it without a permit from the Ministry of Health stating that the sample does not contain infectious diseases, except for one company that agreed and sent it, but the hospital did not reply to me.”
According to the Egyptian Ministry of Health, the Presidential Initiative for the Early Detection of Genetic Diseases in Newborns screened 486,387 newborns according to data from last August, under the slogan “100 Million Healthy Lives”. The initiative is currently working in its first phase, targeting the detection of 19 genetic diseases in premature babies in the incubators of Ministry of Health and Population hospitals, and the second phase is scheduled to include medical screening of all newborns in all health units across the country.
For her part, Soad Abdel Meguid, head of the health care and nursing sector, explains that the 19 diseases detected through the presidential initiative include (congenital hypothyroidism, congenital adrenal hyperplasia, favism, glutaric acidaemia, isovaleric acidaemia, maple syrup urine disease, cystic fibrosis, phenylketonuria, tetrahydrobiopterin deficiency, tyrosinaemia “type 1”, galactosaemia, homocystinuria, argininaemia, citrullinaemia, ornithine transcarbamylase deficiency, fatty acid oxidation disorders and biotinidase deficiency).
The Fursa Hayah (A Chance at Life) Foundation was launched in 2022 as the first non-profit organisation in Egypt dedicated to providing assistance and support to children with rare diseases. The organisation works to ensure that no child is deprived of life-saving treatments because of financial constraints, focusing its efforts on crowdfunding to provide the funding needed to cover the exorbitant costs of rare disease treatments. Zawia3 tried to contact them but had not received a reply by the time this report was published.
The suffering Sherifa and Marwa faced with their children is one of the stories of pain and suffering lived by people with rare diseases and their families in Egypt whenever their condition requires a genetic procedure, especially if it is not available in Egypt, requiring them to provide a large sum of money beyond their financial means to send samples to specialised laboratories abroad; and if the result and diagnosis are delayed, the patient may lose their life.
