BUJUMBURA, January 18th (ABP) – The global situation of rare diseases poses significant challenges in terms of prevalence, diagnosis, access to treatments and support for patients. In Burundi, rare diseases constitute a major problem for public health. They are often overlooked and underestimated due to their low prevalence, thus making their detection and treatment difficult. Patients with rare diseases often face barriers to accessing appropriate health care and treatment.
Doctor Jean de Dieu Havyarimana, Director of the Integrated National Program for the Control of Chronic Non-communicable Diseases at the Ministry of Public Health and the Fight against AIDS, has indicated that when we talk of rare disease, what immediately comes to our mind is that the latter only affects a limited number of people. A rare disease affects less than one person in 2000 within a population, he said. Dr. Havyarimana told a check by ABP on December 17, 2023 during an interview that the epidemiological situation of rare diseases is little known in Burundi to the extent that there is no scientific research oriented towards these diseases, which are not considered a public health problem. Indeed, he said, most research is limited to communicable diseases. Recently, he added, it has been done on the few non-communicable diseases. He continued to say that healthcare professionals have little knowledge of these rare diseases, hence the lack of interest in reporting them to the DHIS2 (District Health Information System 2) level in order to have statistics on them. According to Dr. Havyarimana, this situation does not mean that these diseases, which are 80% of genetic origin, do not exist in Burundi. Without being exhaustive, he takes stock of the rare diseases that affect the people of Burundi, among others, albinism, color blindness, hemochromatosis, Duchenne disease, spinal muscular atrophy, hemophilia and multiple sclerosis.
Some Burundians attribute rare diseases to fetishes and curses, which means that people suffering from these diseases are often subject to stigma, rejection and misunderstanding. Indeed, a family that lives in Matana (southern Burundi), 100km from the economic capital Bujumbura, is an eloquent example of this sad reality. Donatien Bamporubusa (husband) and Fidélité Bukeyeneza (wife) are a couple who live in Matana village, Kavuza sub-village, in the locality commonly called Gikoma. They gave birth to 7 children. Of these, 5 are hemophiliacs, but two among them have drawn their last breath. Horus Ninyishu (15 years old), Vulcain Nishimwe (12 years old) and Lucky Blessing Iranzi (5 years old), who are still alive, live with hemophilia. Despite this perpetual battle against hemophilia, they do not get discouraged and maintain the joy of living, with all the dreams of earning life. However, their parents experience the ordeal on a daily basis: “We often hear from those around us that our family is cursed and that the curse has taken hold there. Our children with hemophilia are seen by some people around them as marginalized,” they say. Mrs. Bukeyeneza’s elder brother, who is aged 40, also lives with hemophilia; and those around them start from this reality to accuse Fidélité of being at the origin of the evil. It is for this reason that certain individuals often seek to convince the husband to cut ties with his wife: “They keep making me believe that I took the wrong path by marrying Bukeyeneza; They forget that she is better half and that she has no responsibility for things being this way. In addition, as an intellectual, I should not listen to comments without logical basis. Only scientific explanations are convincing for me,” Bamporubusa testified on Wednesday January 3, 2024 during an interview with the check by ABP at his home.
“It’s customary that when Burundians do not know or do not understand something, and especially an illness or calamities that befall them or theirs, they tend to attribute it to a curse and fetishes. In this case, the best is for those who have had the chance to be informed or to study, to enlighten opinion and raise awareness and the people not to believe in obscurantism but to consult healthcare professionals each time they are faced with a situation that is difficult to understand,” reacted Dr. Havyarimana. Although most of these rare diseases cannot be cured, he explains; there are therapies or palliative care offered to patients, which can improve the quality of their life and thus prolong their lives.
Early diagnosis and treatment of rare diseases face major obstacles
According to Dr. Havyarimana, the resources available at the national level for the diagnosis, treatment and care of patients with rare diseases are limited, and the consequences are sensitive: “In Burundi, the diagnosis of these diseases is often based on the knowledge of certain specialist doctors. They make a clinical suspicion of the disease because molecular biology or genetic sequencing is unavailable. Unfortunately, this procedure leads to diagnostic error because it is done late, with serious economic consequences for families,” he deplores. Regarding treatment, he emphasizes that most of these diseases are chronic and not treatable. But, he indicates, doctors try to prolong life and improve the quality of life of patients through symptomatic treatments, in a context of absence of structured palliative care. Dr. Havyarimana further specifies that the early diagnosis of rare diseases faces many obstacles with dire consequences that weigh on the patient. This health professional mentions, among other things, the ignorance of the people or the belief in fetishes and witchcraft instead of confiding in health professionals. Sick people often resort to obscure practices, prayer rooms and/or witch doctors. There is also the unavailability of more advanced diagnostic tests (absence of molecular biology laboratories) to help those who can afford it or who often have to go abroad. As for treatment, he says that rare diseases are often chronic and untreatable even in developed countries. Treatment is based on the symptoms that need to be relieved, particularly pain. For the case of Burundi, Dr. Havyarimana reveals that this aspect of pain medicine is not developed at all and that palliative care is almost non-existent in the country. The painkillers, used often, have adverse effects especially on the liver, and can deteriorate the patient’s health, he deplores.
Initiatives aimed at improving access to care for people suffering from rare diseases at the embryonic stage
Dr. Havyarimana guarantees the existence of specific programs or initiatives aimed at improving access to care for people suffering from rare diseases but he believes, however, that the latter face severe difficulties. “There are initiatives, but not coordinated, of civil society and associations of patients and/or healthcare professionals working within the framework of awareness-raising and psycho-social support,” he declared. He has also listed a few rare associations operating in this direction, in this case, the Association for the Fight against Pain (ASLUD), Burundi Palliative Care Association (ABSPA), the albinos associations of Burundi and Burundi Hemophilia-Free Solidarity (SOBUH). “Unfortunately, these initiatives are not supported and their interventions often remain invisible,” regrets Dr. Havyarimana.
The lack of financial and material resources limits the ability of these associations to provide adequate support to patients with rare diseases. In addition, the absence of a specific government policy for this type of illness makes access to appropriate care and treatment difficult. Also, the lack of coordination between different stakeholders, including health professionals, government authorities and non-governmental organizations, undermines efforts to improve the management of rare diseases in Burundi. Finally, challenges related to geographic isolation and accessibility to health services further aggravate the situation for patients with rare diseases in the country.
Dr. Chamy Mikaza, deputy chairperson of ABSPA, points out that the latter faces a lot of difficulties which prevent it from accomplishing its main mission aimed at promoting and ensuring access to palliative care for those in need of it. According to her, these rare diseases evolve in most cases into chronic illnesses which specifically require holistic care on physical, emotional, spiritual and social levels. According to her, this association is still in its embryonic stage, reason why it has not yet achieved much: “Our association is still young. It was approved in June 2023, and has not yet done much for patients. But we hope to be able to achieve our vision soon, in partnership with other stakeholders including the ministry responsible for public health and other national or international partners with whom we are in discussions,” she said.
Dr. Mikaza also raises the main obstacles they face within ABSPA in providing palliative care to people with rare diseases in Burundi. She mentions, in particular, the barriers in human, material and financial resources, palliative care which is not yet included in the priorities of the Ministry of Public Health, but also and above all, a lack of both home and foreign funding for palliative care. Dr. Mikaza also mentions the unavailability of certain inputs, such as morphine in its oral form which is the most affordable and easy to handle for patients.
In terms of grievances, Dr. Mikaza raises the main demands in terms of public policies to improve the care of people suffering from rare diseases in Burundi. In this regard, she talks of the integration of palliative care into the primary care package offered in Burundi, across all levels of the health pyramid, and the establishment of a laboratory capable of ensuring the reconstitution of oral morphine for making this flagship product financially and geographically accessible in the treatment of chronic diseases including rare diseases and their effects. In addition, she insists on the inclusion of palliative care and pain medicine in the basic training for Burundian nurses and doctors.
Faced with this situation, it is crucial to continue to raise awareness among the people to study risk factors, improve health infrastructure and favor international cooperation to fight against rare diseases in Burundi. Joint efforts by governments, researchers, health organizations and civil society can help improve the quality of life of people affected by these diseases and mitigate their impact on the people.
By Jean de Dieu Ndikumasabo