{"id":18422,"date":"2024-09-27T16:26:24","date_gmt":"2024-09-27T14:26:24","guid":{"rendered":"https:\/\/zawia3.com\/?p=18422"},"modified":"2026-10-09T00:10:36","modified_gmt":"2026-10-08T22:10:36","slug":"marble-bones","status":"publish","type":"post","link":"https:\/\/zawia3.com\/en\/marble-bones\/","title":{"rendered":"Marble Bone Disease Patients in Egypt: When Hope for a Bone Marrow Transplant Becomes a Battle for Survival"},"content":{"rendered":"

Patients with marble bone disease in Egypt and their families suffer, as the disease ravages their bodies from birth until death. Amal El-Beshlawy<\/strong>, professor of paediatrics and haematology at Kasr Al Ainy Faculty of Medicine, Cairo University, explains to Zawia3 that bone marrow transplants are the only hope for treating them, which forces some to undergo them, but this burdens the patient’s family with treatment costs and the need to search for a donor.<\/p>\n

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Estimates by the Egyptian Academy of Bone Health and Metabolic Bone Diseases<\/a> indicate that 53.9% of postmenopausal women are exposed to the early stages of osteoporosis, while 28.4% already have osteoporosis. Studies also revealed that 26% of men suffer from early osteoporosis and 21.9% have it. According to the academy, the prevalence of osteoporosis among postmenopausal women in rural areas of Upper Egypt is the highest, at 47.8%. While some statistics exist on osteoporosis patients, no one has so far bothered to show the number of marble bone disease patients in Egypt.<\/p>\n<\/blockquote>\n

Marble bone disease<\/strong>, also known as “osteopetrosis”<\/strong>, is a rare genetic disorder characterised by abnormally increased bone density as a result of a defect in the bone formation process. Although the bones appear harder, they become very brittle, making them prone to fracture easily. The disease can lead to serious complications such as bone marrow failure, loss of hearing and vision, and delayed growth, and it often appears in early childhood. The only treatment currently available is a bone marrow transplant.<\/p>\n

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A Story of Suffering with Marble Bone Disease<\/h3>\n

Omar Mahmoud (27), born in Qalyubia Governorate, is self-employed. In 2020, he and his wife lost their first child, Yassin, who died one year after his birth from marble bone disease, a rare disease that severely affected him, causing him to lose his senses of hearing and sight, his bone marrow to fail and his growth to stop. In 2024, the family welcomed its third child, Elias, who was born with the same disease.<\/p>\n

Omar recounts the details of his two children’s suffering with this rare genetic disease, known as “osteopetrosis”, saying: “My first and third children were born with marble bone disease. I lost my first child after his long suffering with severe bleeding and his constant need for blood transfusions, in addition to severe anaemia, his inability to breastfeed, and constant seizures.”<\/p>\n

He adds: “We went to doctors in Qalyubia and Cairo governorates, and at first he was diagnosed with leukaemia, which led us to seek treatment at the Oncology Institute in Qalyubia for three months. But after a bone marrow aspiration test ruled out leukaemia, his condition was diagnosed as marble bone disease when he was eight months old. Unfortunately, the diagnosis took five months until the error of the previous diagnoses was discovered, because of the weakness of his tissues and immunity.”<\/p>\n

Omar noted that, on the recommendation of a doctor, a genetic test was sent to the “CENTOGENE” laboratory in Germany, which specialises in genetic testing, to confirm that his child had osteopetrosis.<\/p>\n

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Regarding the need to send genetic test samples to laboratories outside Egypt, official sources at the Ministry of Health’s central laboratories confirmed to Zawia3 that government hospitals do not refer patients directly to external laboratories. This is usually done on the recommendation of the treating doctor, the patient or their family bears the cost of the test, and a charity may step in to cover the cost because it is high. According to patients’ families, samples are often sent to the “CENTOGENE” laboratory in Germany for these tests.<\/p>\n<\/blockquote>\n

On the other hand, the Presidential Initiative for the Detection of Genetic Diseases stated that osteopetrosis is not among the genetic diseases covered by the initiative. The Ministry of Health’s laboratories also do not carry out its tests, as it is a rare disease. However, Dr El-Beshlawy explained that specialist doctors with experience in dealing with this disease can diagnose it through clinical examination without the need for genetic testing in all cases.<\/p>\n

In September 2023, the Minister of Health opened the first integrated laboratory<\/a> for pathological and genetic testing in Egypt at the Egyptian Center for Disease Control and Prevention, in cooperation with the global company “Roche”, a leader in pharmaceuticals and diagnostic tests, and “HDV Egypt”, a leader in diagnostic tests and the official representative of the global company “Illumina Inc.” in the field of genetic sequencing tests.<\/p>\n

Mahmoud explains that an Egyptian doctor helped them manage the cost of the genetic test, which was exorbitant for them, as it exceeded about EUR 440 at the time (in January 2020, when the test was carried out, the euro stood at about EGP 17.47 at the bank rate, bringing the cost of the test to EGP 7,687 at the time). He adds: “The doctors told us that the child’s condition was advanced and that if a bone marrow transplant were performed, its success rate would not exceed 2%.”<\/p>\n

He remembers his last words to the doctor treating his first child, Yassin. He says: “I asked him to perform the operation whatever its success rate, as it was his last hope.”<\/p>\n

He says: “After he was admitted and prepared for the operation at the Air Force Hospital in Cairo for 15 days during 2020, the doctor opposed me, repeating that they would not perform the operation because it was doomed to fail and his body would not accept the transplanted marrow.” Yassin died before the operation, at the age of one.<\/p>\n

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The Suffering Returns and the Family Turns to Dar Al-Ifta<\/h3>\n

Alaa Mohamed, Omar’s wife, became pregnant with their second child, Juwayriya, days before the death of their first child, Yassin. Juwayriya was born healthy and not carrying her brother’s disease, but the tragedy returned with the birth of the third child, Elias, who was born with the same marble bone disease.<\/p>\n

The child’s father says: “We carried out a genetic test on Elias while he was still a foetus, at a specialised laboratory in Germany, and the test showed that he had the disease. The cost of the test exceeded EGP 28,000, and its result was delayed, which prevented an early decision to abort the foetus. After the result came out, specifically in the fifth month of pregnancy, we went to Dar Al-Ifta to obtain permission for an abortion, but the request was rejected.”<\/p>\n

Omar explains that Dar Al-Ifta relied on a religious fatwa stating that by the fifth month the soul has been breathed into the foetus, and therefore abortion at this stage is considered “religiously forbidden”, because it is regarded as taking a soul, according to the institution’s fatwa.<\/p>\n

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According to the Fatwa Committee<\/a> of the Islamic Research Academy, jurists agree that if the soul has been breathed into the foetus upon reaching 120 days, that is, four months, aborting it is forbidden, but if it is proven by a medical report approved by a government body that keeping the foetus poses a danger to the mother’s life, aborting it becomes a matter of necessity.<\/p>\n<\/blockquote>\n

He adds: “We moved faster to carry out the bone marrow transplant from the second day after birth, before symptoms of the disease appeared. We submitted his papers to the competent authorities to issue a decision for it to be carried out at the state’s expense, and the decision was issued for the state to cover EGP 230,000 of the initial estimated total cost of EGP 600,000, after I donated marrow to him once tests showed a 50% match between us. This pushed me to appeal for help on social media to raise the rest of the operation’s cost, and EGP 600,000 was paid on account at the Nile Valley Hospital, where the operation is scheduled to take place. The total cost of the operation may exceed EGP 1.2 million, depending on the number of days of hospitalisation and treatment and the child’s condition.”<\/p>\n

For her part, Amal El-Beshlawy<\/strong>, professor of paediatrics and haematology at Kasr Al Ainy Faculty of Medicine, tells Zawia3: “A person with osteopetrosis, or marble bone disease, suffers from severe anaemia, enlargement of the liver and spleen, delayed growth in the child, and damage to the optic nerve as a result of pressure on it, which leads to blindness, as symptoms appear in the first months after the child’s birth.”<\/p>\n

She points out that consanguineous marriage is one of the factors that help the disease spread or occur, and confirms that there are no statistics on the number of people with the disease in Egypt, as its incidence rates do not reach 0.5%, since it is a rare disease.<\/p>\n

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According to<\/a> the Egyptian Ministry of Health, the Presidential Initiative for the Early Detection of Genetic Diseases in Newborns has screened 486,387 newborns, according to the latest update on 30 August. The Minister of Health indicated that the initiative is currently in its first phase and aims to detect 19 genetic diseases in premature babies in the incubators of Ministry of Health hospitals, and the second phase is scheduled to include medical screening of all newborns at all health units across the country.<\/p>\n<\/blockquote>\n

For her part, Soad Abdel Meguid, head of the Health Care and Nursing Sector, explained that the 19 diseases screened for include (congenital hypothyroidism, congenital adrenal hyperplasia, favism, glutaric acidaemia, isovaleric acidaemia, maple syrup urine disease, cystic fibrosis, phenylketonuria, tetrahydrobiopterin deficiency, tyrosinaemia “type I”, galactosaemia, homocystinuria, argininaemia, citrullinaemia, ornithine transcarbamylase deficiency, fatty acid oxidation disorders, and biotinidase deficiency). According to a statement<\/a> by Ghada El-Kammah, professor and former head of the Department of Genetic Diseases at the National Research Centre, 4% of the Egyptian population have genetic diseases.<\/p>\n

El-Beshlawy confirms that there is no effective treatment for this disease, and the only available solution is to perform bone marrow transplants before the child’s condition deteriorates and they lose their sight. Even so, bone marrow transplants are not 100% successful for these patients, and she urges the parents of children with this disease to take them quickly to specialist doctors to take the necessary medical measures and explore the possibility of a bone marrow transplant before complications of the disease occur.<\/p>\n

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She points out that throughout her 40-year career she has received only four cases with the disease, and although some of them underwent bone marrow transplants, their condition did not improve adequately; they had to have their spleens removed and still suffer from anaemia, as she put it.<\/p>\n<\/blockquote>\n

Hassan Mubarak (38), born in Qena Governorate in Upper Egypt, lived the same suffering with his seven-year-old son Essam, who he was surprised to find was born with the disease as a result of genetic factors caused by consanguineous marriage. He says: “Symptoms of the disease appeared four months after his birth. We were surprised that he suffered from a severe haemoglobin deficiency, registering 4.5 and 6, which exposed him to constant bleeding and the need for blood transfusions, in addition to his inability to walk because of the pressure on the marrow. We kept going to doctors for five months, but they were unable to diagnose his condition until after a long journey, following which they decided he needed a bone marrow transplant. The operation was performed at the Nasser Institute Hospital when he was a year and a half old, after his mother donated to him once tests showed a 100% match between them. My child’s condition improved after the operation, but he still suffers from gum deformities that began to appear after the operation.”<\/p>\n

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Demands<\/h3>\n

Omar advises couples who have had children with rare diseases to have other children through ICSI to avoid passing the disease on to them. He also calls for opening a specialised laboratory, like its counterpart in Germany, to carry out genetic disease tests, instead of families being forced to carry out these tests at exorbitant costs beyond their means, which burdens them with countless financial and psychological pressures.<\/p>\n

The father of the child with marble bone disease places the authorities before their responsibility and calls on them to bear the full costs of bone marrow transplant procedures regardless of the type of match, after conducting social research on the families and proving they cannot afford them, especially since the cost of treatment after the operation is extremely high and may exceed EGP 100,000 a month.<\/p>\n

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According to the bulletin<\/a> on the treatment of citizens at the state’s expense at home and abroad, issued in June 2023 by the Central Agency for Public Mobilization and Statistics (CAPMAS), the cost of treating citizens at the state’s expense fell from 10.4 billion in 2019 to EGP 9 billion in 2020. According to the same bulletin<\/a>, the number of patients treated abroad at the state’s expense in 2019 was about 36, while the number fell to 13 in 2020. In 2019, the number of those treated at home at the state’s expense reached 10,374,967 patients, falling in 2020 to 9,032,883 patients. The number of bone patients treated at the state’s expense in 2020 was about 91,116, representing 3.4% of the total number of patients treated at the state’s expense, at a cost of EGP 413,489 thousand, while the number of those who underwent surgery at the state’s expense, regardless of the site of the surgery, reached 51,519 patients at a cost of EGP 143,337 thousand.<\/p>\n<\/blockquote>\n

Elias’s family lives in hope that their child’s operation will succeed, so that the infant, who is not yet a month old, may be spared the ordeal of the disease that ravaged the body of his older brother in May 2020. Immediately after his birth, his family sought to take the necessary measures to speed up the operation so that he would not fall prey to a disease that eats away at the marrow and the optic and auditory nerves.<\/p>\n","protected":false},"excerpt":{"rendered":"

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