BUJUMBURA, February 16th (ABP) – In Burundi, hemophilia is a rare disease that is largely ignored and underdiagnosed. Patients often suffer serious complications, such as internal bleeding and joint deformities, due to lack of adequate treatment and proper healthcare. Currently, there is no national hemophilia treatment program in Burundi. Patients and their families generally have to resort to local associations for help and information about the disease. The NGO working in the field of hemophilia in Burundi, namely the Burundi Hemophilia-Free Solidarity (SOBUH), is trying to provide treatment to patients, but its resources are limited.
Professor Claudette Ndayikunda, Medical Biologist, Director of the Virology and Biological Diagnostics Research Center (CRDBi), indicates that hemophilia is a rare, genetic and recessive disease which is linked to the X chromosome characterized by a qualitative or quantitative deficiency of a clotting factor. Professor Ndayikunda told a check by ABP on Wednesday January 31, 2024 during an interview that if it is factor VIII which is absent or deficient we talk of hemophilia A. But if it is is factor IX which is absent or deficient, we talk of hemophilia B. She also indicates that hemophilia A affects approximately one in 6000 people, while hemophilia B, which is rarer, affects one in 30000 people. The genes for factors VIII and IX are located on the X chromosome, hence the disease is transmitted in the sex-linked recessive mode. Male carriers will all be sick while female carriers are simply called carriers of hemophilia, which is not the same as having hemophilia. In certain patients, we do not find a family history of hemophilia, mentions Professor Ndayikunda, noting that in this case, they suspect new hemophilia corresponding to the appearance of hemophilia mutation (which occurs in 20% of cases; this is different from acquired hemophilia). According to her, the level of factor VIII or IX which determines the severity of hemophilia in the blood can be very reduced, moderately reduced or slightly reduced. Hemophilia is severe if this rate is less than 1% (35% of cases), moderate if it is between 1 and 5% (15% of cases), and minor between 6 and 30% (50% of cases). Concerning the mode of transmission, Professor Ndayikunda specifies that hemophilia is transmitted in its type and severity. Regarding its cause, she indicates that hemophilia is caused by mutations (abnormal changes) in the gene that makes it possible to produce clotting factors VIII or IX. These genes are located on the X chromosomes (sex chromosomes). The chromosomes are grouped in pairs according to Professor Ndayikunda, explaining that women have two X chromosomes and men have one X chromosome and one Y chromosome. The X chromosome is the only one that contains the genes allowing the production of coagulation factors VIII and IX. According to Professor Ndayikunda, there are 2 main types of hemophilia, namely hemophilia A, also called classic hemophilia because it is the most common. In this disease, clotting factor VIII (eight) is absent or reduced in quantity, she specifies. There is also hemophilia B, also known as Christmas disease, in which clotting factor IX (nine) is absent or reduced in quantity.
Regarding the most common symptoms of hemophilia, Professor Ndayikunda talks about hemorrhages. She points out that the latter begin with walk learning stage and that the severity of the clinical manifestations depends on the severity of the factor VIII or IX deficiency. If the biological activity of the clotting factor is less than 1%, hemophilia is severe and manifests itself by frequent spontaneous hemorrhages and abnormal bleeding following minor injuries, surgery or tooth extraction. And if this activity is between 1 and 5%, hemophilia is moderate with abnormal bleeding following minor injuries, surgery or tooth extraction, but spontaneous hemorrhages are rare, she explained. This specialist further points out that if this biological activity is between 5 and 40%, hemophilia is minor, with abnormal bleeding following minor injuries, surgery or tooth extraction, but not spontaneous hemorrhages. In cases of severe hemophilia, she continued to say, joint bleeding, or hemarthrosis, which occurs mainly in the weight-bearing joints (knees, ankles and hips), is responsible for pain and can lead to destruction of the joint and can result in severe disability. The progression of untreated severe hemophilia is fatal in childhood or adolescence. Little or insufficiently treated, the repetition of hemarthroses and hematomas results in a very disabling motor disability, combining stiffness, joint deformation and paralysis, adds Professor Ndayikunda. She also emphasizes that in Burundi, the diagnosis of hemophilia is carried out by the detection of prolongation of the Activated Cephalic Time (ACT), followed by a correction test analyzed using the donation of factors VIII and IX received from World Federation of Hemophilia (WFH) of Canada.
Hemophilia-associated complications can be treated or prevented
According to Professor Claudette Ndayikunda, bleeding in the brain represents a serious complication of hemophilia. Bleeding in the brain can occur after a slight blow to the head or more significant skull trauma, depending on the severity of the hemophilia. She has revealed that signs and symptoms of intracerebral bleeding include behavioral changes, vision changes and seizures. There is also sudden weakness in an arm or leg, severe headache, long-lasting neck pain or stiffness, drowsiness and repeated vomiting. She therefore mentions that it is today possible to avoid these complications, especially since the evolution is all the more favorable if the patient receives early replacement therapy that is well adapted to their clinical situation.
In relation to the treatments available for people with hemophilia and the most commonly used medications, she indicates that the type of treatment varies depending on the type of hemophilia, the severity of the disease and daily activities. It will also vary whether the patient is undergoing dental or medical procedures. Various therapeutic options containing factors VIII and IX are also available, she explains. To that end, Professor Ndayikunda mentions frozen plasma containing 0.7-1 IU of factors VIII or IX/ml of plasma which can be prescribed to patients or made into cryoprecipitates at 25-40 IU of the same factors. Hemophiliacs can also receive factor VIII or IX concentrates which can contain 50-1000 IU of factors/ml or PPSB which are vit K dependent factors. Among the most commonly used drugs, Professor Ndayikunda talks of Afstyla 500, Kovaltry 500, HemophilnM 500 for the treatment of Hemophilia A and AlphaNine SD 500, Octanine 500 for the treatment of Hemophilia B. “Thes medications are available in Burundi and are a donation from the World Federation of Hemophilia of Canada,” she reveals.
She acknowledges that there are recent advances in the field of research on hemophilia and that there are new treatments or prospects for improving the quality of patients’ life: “Gene therapy, awaited by all for decades, is becoming a reality and will be accessible very soon. Two molecules have been available in France since 2023, Roctavian (valoctocogene roxaparvovec) from the BIOMARIN laboratory for the treatment of hemophilia A, and EtranaDez (etranacogene dezaparvovec) from the CSL Behring laboratory for the treatment of hemophilia B. Emicizumab: emicizumab is a medication used to treat hemophilia A. It allows blood to clot in the absence of factor VIII by attaching to factors IX and X,” she says.
In Burundi, people with hemophilia and their families experience daily ordeal
Samy Asaël Muhezagiro, like others, reflects the ordeal experienced on a daily basis by people with hemophilia and their families. In 2016, when the child was born, the family used to live in Muyinga, 200 km from Bujumbura, the economic capital of Burundi. Gilbert Niyonkuru, Muhezagiro’s father, told the check by ABP on Tuesday January 23, 2024 that when his son was born, he did not present any health problems. He indicates that when aged 7 months, the situation changed its normal course : “It was at the age of 7 to 8 months that my son began to develop hematomas on the apple of his hand, ankles, knees, shin) and especially on the buttocks. These hematomas began to appear as soon as the child learned to climb on objects, walk on all fours and get up. Every time he bumped into the ground, larger hematomas appeared on his buttocks,” he says. He further indicates that he had the child treated at the Muyinga public hospital. Doctors sometimes prescribed ointments and painkillers to try to reduce the pain caused by those hematomas. According to Niyonkuru, everyone wondered why after two or three weeks, those hematomas disappeared even before the child finished the medication and others appeared. As much as the child increased his movements (crawling, getting up and walking), the hematomas multiplied. He noticed, however, that the hematomas appeared every time he bumped into an object or the ground.
After realizing that they were unable to detect the illness from which the child was suffering, the doctors at Muyinga hospital recommended that his child be treated in Bujumbura. Arriving there, he went from one pediatrician to another, from one hospital to another but without success: “In any case, I went around to the pediatricians in Bujumbura. They prescribed medication, they had medical examinations done. By doing the Complete Blood Count (CBC) and other tests, all the doctors noticed a certain disorder in the child’s blood,” he relates.
According to the child’s father, at the slightest movement (walking on all fours, getting up and attempts to walk), the hematomas multiplied in certain places on the body, especially on the buttocks, knees, forearm, etc. Sometimes, the hematomas would swell to the size of an egg, which made him afraid and think deeply about the evil that awaits his son. Concerned about his son’s state of health, he decided to visit almost all the hospitals in the city of Bujumbura, from a specialist to another, but no one was able to detect the disease that was gnawing at his son. He later decided to take his son to the country’s leading hospital at that time: “I had my son treated without success. I visited all the hospitals, I saw several doctors. Afterwards, I went to get him treated at Kira hospital, the most specialized hospital in the country at the time,” he confided.
At Kira hospital, he explains, the doctors used all their knowledge to try to detect what the child was suffering from. In early 2018, doctors found that all the medications prescribed to the child could not stop the hematomas. That is why they suggested that he take a sample of a hematoma. “At that time, doctors did not believe it was a hematoma but rather a cancerous nodule. They offered to take a sample of a hematoma to send it abroad for a biopsy,” he says. For this sample to be sent abroad, Niyonkuru had to pay an amount of $200, but he was unable to find this money. He decided to go elsewhere and confided in another doctor: “Being unable to make the $200 available because of the large expenses that were weighing on me and the shortage of foreign currency that the country was facing, I was afraid to return to Kira hospital and I confided in another pediatrician. The latter told me that the biopsy is not necessary, especially since these hematomas eventually disappear on their own. They would have thought it was cancer, but that is not the case,” he explains. The father of the child also specifies that this doctor in whom he confided suggested that he use nutritional supplements, but there too, the efforts led to nothing.
At the age of one year and a half (18 months), Muhezagiro fell to the ground and suffered a shock with a scratch on the head, near his face, says his father. The shock caused unexpected complications ; the child had developed signs of skull trauma: “The child was very agitated to the point that it was difficult to hold him. During the night, he couldn’t sleep, he was jerking all the time,” he confided. The doctor Niyonkuru spoke to advised him to go down to Bujumbura without delay to do the scan on the child. The doctor believed the child had suffered a serious fall and that the domestic had hidden the truth for fear of being fired, he said. He went to Kira hospital where the CT scan carried out on the child revealed that the latter had a cranial disorder caused by internal bleeding. An operation was urgently scheduled to remove the blood from the skull.
The operation was successful, but Niyonkuru, Muhezagiro’s father, regrets one thing: “If the doctors knew that my son suffered from hemophilia, the operation would have to be preceded by the injection of clotting factors (Factors VIII).” Shortly after the operation, he says he asked the doctors what his son was suffering from. They told him that medical imaging revealed that it could be neurofibromatosis and that the child would have to live with it for the rest of his life. He also specifies that after the operation, hematomas continued to appear in certain places on the child’s body.
The father of the child decides to try elsewhere
Niyonkuru still remained keen to know this invisible evil that was gnawing at his son, the reason why he was not convinced by the answers given by the local doctors. He decided to go to Rwanda: “Remaining thirsty to know this invisible evil that haunts my son and not being satisfied with the answers given by the local pediatricians, I decided to go to Rwanda. I started with King Faisal Hospital (KFHR),” he says. Niyonkuru reports that upon consulting the child, doctors discovered that he had a large hematoma on his back which was caused by a lumbar puncture made before the cranial operation. Thus, they hypothesize that the child would suffer from hemophilia, he said. “KFHR doctors sent me to the Kigali University Hospital Center (CHK) to confirm or refute the hypothesis of hemophilia. The diagnosis revealed that the child suffers from category A hemophilia,” he testified.
After the discovery of the disease that threatened him, Munezero began to benefit from clotting factors from the Rwandan Hemophiliacs Association and CHK. However, his father emphasizes that things were not easy. “I had to transport my son to Kigali to receive these clotting factors every time he went into shock. Whether it was morning or evening, whether it rained or snowed, I had to cross the borders,” he explains. Niyonkuru claims that after long negotiations, the Rwandan Hemophiliacs Association and the CHK agreed to give him a few vials of clotting factors: “After long negotiations, they agreed to alleviate my suffering and agreed to offer, whenever necessary, a few vials of factor VIII) which I had stored at the Muyinga hospital and my son would benefit from them from there,” he added.
Despite the suffering of the parents, the child himself, the vast expenses and the discovery of this illness, Samy Asaël Muhezagiro was not able to survive: “Despite my sorrows and huge expenses, my son could not survive; Born on December 22, 2016, he drew his last breath in 2021 after a short period of dizziness and vomiting,” regrets the father, hence he decided to continue a fierce battle against hemophilia.
An organization takes inception in a particular context
“After the suffering experienced by myself and my son, I could not remain idly faced with this illness described as a curse. I thought that there are other people and other families who are going through the same pain like me. I therefore decided to found the Burundi Hemophilia-Free Solidarity (SOBUH),” says Niyonkuru, specifying that the latter’s motto is: “Every hemophiliac counts.” Before his son’s death, he was already in contact with the World Federation of Hemophiliacs (WFH), which had started sending him clotting factors.
According to Niyonkuru, SOBUH currently has 23 members, including eleven male hemophiliacs who live in Burundi. Two other adult patients had to migrate abroad in search of care that met their health and physical conditions. Ten out of the eleven patients are children under 18, and eight out of the eleven are from the same large family, he explains. He also indicates that among those hemophiliacs are two women who have various coagulation disorders.
According to him, the essential role of SOBUH consists of supporting hemophiliacs so that they have access to adequate care by maintaining a high-level advocacy to receive in Burundi the rare and unique drugs as well as the coagulation factors that patients are currently receiving as a donation from the World Federation of Hemophilia (WFH). This organization also fights for there to be a special medical care center in Burundi.
In terms of support for people with hemophilia and their families, Niyonkuru says that SOBUH regularly advocates and obtains, for the benefit of patients, donations of clotting factors from the World Federation of Hemophilia based in Canada. Through formal or informal agreements, it is in contact with the services of the Ministry responsible for Public Health which facilitates the importation of those products, their conservation and their injections to patients at the Kamenge University Hospital Center in Bujumbura city (CHUK).
Lack of access to healthcare for Burundian hemophiliacs : a major concern
In terms of access to medical care for people with hemophilia in Burundi, the chairperson of SOBUH notes that the level is limited: “The level of access to medical care is limited. Our patients depend on donations of clotting factors that SOBUH requests only from FMH Canada. These donations are insufficient due to certain internal procedural formalities which block the speed in the importation of those factor donations and the multiplication of donors. This has a negative impact on care, especially since we have no other alternatives to these products. Likewise, the quantities received are not sufficient to organize the required periodic prevention and adequate treatment,” he laments. In addition, he continued to say, all patients in the country must be checked up and injected with clotting factors at the Kamenge University Hospital Center (CHUK) with which SOBUH has recently signed a partnership agreement for the importation and conservation of these factors as well as the care of patients. Niyonkuru deplores, moreover, that the CHUK does not have the doctors trained to treat hemophiliacs, neither the laboratory equipment for the precise diagnosis of these pathologies, nor the equipment for the treatment of joints. Currently, this partnership is limited only to factor injections and medical advice, he reveals. Even if clotting factors are free, patients are faced with other challenges. “Although clotting factors are free, patients or their close families struggle to afford check up and injection costs (around $4) due to the frequency of bleeding, sometimes within the same week, and poverty. The same goes for access to other medications, physiotherapy, surgical operations in the event of intracranial bleeding, etc., which may result from the condition of each patient. If, for example, a parent has three children, the costs increase and the patients or parents no longer go to the hospital,” he explained. Furthermore, most hemophiliacs have precarious joint conditions and lack the travel expenses required to go to the hospital regularly, he regrets.
In terms of claims to the health sector authorities with regard to the management of hemophilia, the chaiperson of SOBUH demands that the Ministry in charge of Public Health formally recognize this association, given that certain actions have already been carried out informally for the benefit of patients. There is also the declaration of the existence of hemophilia and other rare coagulation disorders in Burundi, classifying it among the chronic diseases to be prioritized. Other claims include the easing of procedures for importing donations of clotting factors or other products by waiving certain rules linked to the expiry date of pharmaceutical products entering Burundi : “Products such as clotting factors with an expiry date of less than 6 months should be authorized to enter Burundi if they come to save a patient whose bleeding control proves complicated,” he believes. It would be better to mention the support of SOBUH in its efforts to improve access to healthcare, in particular the organization of care for hemophiliacs, their treatment in hospital emergency rooms as well as the recognition of free certain care. Finally, Niyonkuru demands the provision of other alternatives to clotting factors to patients which are rare and very expensive, in particular by encouraging the manufacture of sufficient emergency plasma in Burundi.
Hemophilia affects the daily lives of Burundian patients
Niyonkuru notes that patients, once diagnosed with hemophilia and informed about the disease, have ambivalent feelings of hope and fear. According to him, hope is born because they now know that it is not witchcraft or the curse inherited from their parents and that they will have medicines capable of improving their lives. “Fear sets in because the regular availability of clotting factors and other treatments is not guaranteed while the risks of cranial or abdominal hematomas, as well as joint damage can occur and lead to precarious socioeconomic conditions,” he explains. He reveals that lack of means of subsistence, lack of schooling, lack of costs associated with frequent medical care, stigma, etc., including the regular frequency of clotting factor injections are elements that create a climate of permanent stress for both patients and their relatives.
In the meantime, people with hemophilia and their families appreciate SOBUH’s intervention despite its younger age. Indeed, a family living in Matana village (southern Burundi), 100 km from the economic capital Bujumbura, Kavuza sub-village in the locality commonly nicknamed Gikoma, is one of the first beneficiaries of these clotting factors. Donatien Bamporubusa (husband) and Fidélité Bukeyeneza (wife) gave birth to 7 children. Of these, 5 are hemophiliacs, but two among them died. Horus Ninyishu (15 years old), Vulcain Nishimwe (12 years old) and Lucky Blessing Iranzi (5 years old), who are still alive, are in a perpetual battle against hemophilia. Before, Ninyishu studied at Rubanga boarding school: “We thought of sending him to a boarding school to relieve him of the pain and difficulties he experienced while going to school or when returning,” his parents testified on Wednesday January 2, 2024, during an interview with the check by ABP at their home. However, this initiative taken by Ninyishu’s parents did not last long : “The living conditions (diet and others) did not allow our initiative to last long”, specifies the father.
After the failure of this initiative, the parents decided to place the child in a day school. Ninyishu is currently in a school relatively close to home. It is almost 3 km from home. At noon, he returns home to return to school at 1 p.m. and returns around 5 p.m. afoot. “Since I walk and have to make a long journey, I always grow tired because my joints start to deteriorate and are already hurting, which has a negative impact on my school results,” says Ninyishu. He regrets, fleetingly, that he does not partake in extracurricular activities and that he sometimes feels bad while helplessly observing children or classmates of his age playing when he should be an actor alongside the others : “Sometimes I get anxious watching my classmates playing. But this feeling doesn’t last long. I already know that I live with an illness that prevents me from flourishing,” he confides. Ninyishu is currently in the third year of post basic education and despite his illness, he never loses courage.
Thanks to the clotting factors they receive, Ninyishu’s little brothers have not yet developed the very signs of complications like him. They, too, are like their elder brother at school. Nishimwe studies in class 6 of basic education, while Iranzi is in grade 1 of basic education. Their parents gratefully acknowledge the action taken by SOBUH with regard to their three sons : “Had it not been for the intervention of SOBUH, our sons would not still be alive,” they testified.
However, these hemophiliacs who live in Matana often have difficulty accessing the treatment and medical care necessary to control their bleeding and prevent complications. Burundi, as a developing country, does not have an efficient health system and comprehensive coverage for patients. Hemophiliacs often have to travel to Bujumbura, the country’s economic capital, to get the medical treatment they need.
People with hemophilia are exposed to stigma and marginalization
In Burundi, hemophilia is often associated with a curse, and this association is rooted in Burundian beliefs and cultural traditions. Indeed, diseases such as hemophilia, which are little-known, are often poorly perceived. Therefore, they are sometimes associated with superstitions or traditional beliefs, including those related to curse. Due to these traditional beliefs, hemophiliacs in Burundi face stigma. They may be seen as carrying a curse or being under the influence of evil forces, which can lead to their social marginalization.
The parents of these children with hemophilia say they often hear from those around them that their family is cursed and that the curse has taken hold there. “Our children with hemophilia are perceived by some people around them as marginalized people,” they say. Bamporubusa, the father of those children, said that even within his large family, he is not understood. He is accused of being indifferent because he does not actively take part and contribute financially to the organization of certain family ceremonies. “I spend a lot on my children who are sick and fragile because of this illness, but some members of my family are not compassionate. They often accuse me of not participating and contributing to the ceremonies organized at the family level,” he confided.
Faced with this situation, it is important to promote awareness and education about hemophilia in Burundi as a matter of improving understanding of the disease and encourage support and help for patients. Training programs among health professionals and community health center staff can help improve patient care and reduce complications associated with hemophilia. Finally, it is essential to draw up a national hemophilia treatment program in Burundi, accompanied by an operational action plan to guarantee equitable access to treatment and care for all patients suffering from hemophilia. This requires collaboration among government, civil society organizations and international partners to provide the necessary financial and technical resources.
By Jean de Dieu Ndikumasabo