In Tanzania, a silent struggle prevails among individuals dealing with rare diseases—conditions affecting fewer than 1 in 2,000 people globally. This unexplored side of healthcare brings together patients, caregivers, physicians, and researchers on a journey marked by challenges but fortified with resilience. 

It’s time rare diseases got the attention they need. We must create a caring environment, with available resources advocating for more to support patients and families, bringing hope and unity to those affected.

With over 7,000 rare diseases globally, often with a genetic cause, patients face chronic, progressive, and life-threatening conditions. The journey involves clinical evaluations, genetic testing, and specialised procedures, hindered by difficulties accessing experienced physicians, prolonged diagnosis timelines, and limited research. 

Rare Disease Day is commemorated globally on the last day of February each year and serves as a moving reminder of the challenges and triumphs those affected face.

In this piece, I aim to uphold the spirit of this day by illuminating the current situation of rare diseases in Tanzania, exploring perspectives from patients, physicians, researchers, parents, caretakers, counselling experts, and support groups.

Patient’s experience

In a heartfelt interview, Yusuph Zahoro, a vibrant youth living with Paroxysmal Nocturnal Haemoglobinuria (PNH), openly shared his experience with this rare disease. Since the age of four, Yusuph has faced the challenges of the condition. He succumbed to over ten years of seeking a diagnosis, saying: “Every hospital we went to thought I had sickle cell, but tests did not comply to that.”

Frustrated by the lack of answers, Yusuph, like many others, sought clarity through traditional routes, which did not solve his case. He did not give up, determined to continue seeking medical advice regarding his condition. 

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He pursued consultations with specialists, supported wholeheartedly by his father, who together vowed not to relent until Yusuph’s condition was diagnosed. He still remembers meeting Dr Alex Magesa, a haematologist, who, after careful pre-checks and several consultation meetups, assigned a hams test that diagnosed Yusuph with PNH in 2015.

Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder characterised by the destruction of red blood cells, leading to symptoms such as fatigue, difficulty breathing, and an increased risk of blood clots. 

Currently, Yusuph manages PNH through regular blood transfusions, having received over 200 units of blood since his diagnosis. The transfusions are crucial in alleviating symptoms and improving his overall well-being. 

However, these treatments come with challenges, including occasional reactions such as fever and discomfort stemming from the body’s response to the foreign blood components. Despite these challenges, Yusuph remains resilient in his ongoing battle against PNH.

Complement inhibitor injections such as ravulizumab, which can significantly alleviate symptoms, improve quality of life, and eliminate complications of PNH, sadly, are not an option for him since they’re not available in the country and cost over US$500,000 for an annual dose.

Yusuph encourages fellow rare disease patients and their caregivers to persevere and maintain hope, stressing that close family support helps patients with rare diseases feel hopeful and see a life worth living, even without a definitive cure. 

He also appeals to the government, particularly the Ministry of Health, to acknowledge the unique challenges those with rare diseases face. He advocates for special considerations, such as financial waivers for essential needs, assistance with ambulances, blood donation compensation, and comprehensive healthcare insurance packages, to alleviate the financial burden often accompanying managing rare conditions.

Physicians’ point of view

Karim Manji is a distinguished professor in Pediatrics and Child Health at the Muhimbili University of Health and Allied Sciences (MUHAS), with over three decades of experience in pediatric practice. During an interview with this author, Prof Manji graciously shared his knowledge and insights into rare diseases affecting children.

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Despite the economic and medical challenges posed by rare diseases, they also bring significant social and emotional burdens for patients, parents, and their families. Prof Manji admits that “breaking the news to the mother or parents that their child has a rare disease is the hardest part of my job.”

The subsequent questions lingering in the parents’ minds are heartbreaking: Is there treatment? Is the condition compatible with life? Will my child lead an everyday life? Prof Manji emphasises the crucial role of genetic counselling, which is not widely known in the country.

Counselling becomes essential to address the psychosocial toll on parents, who are susceptible to post-traumatic stress disorder due to the profound life shift of raising a child with a rare condition.

Prof Manji then stresses the critical need to acknowledge rare diseases by establishing a registry, ensuring that these cases do not slip under the radar of the health ministry. He urges government officials and health policymakers to take action by implementing initiatives that provide essential social, financial, and educational support to rare disease patients.

Dr Sanaa Said, a rheumatology physician and researcher focusing on inflammatory joint disorders in Zanzibar, was kind enough to share her point of view from the islands of Pemba and Unguja’s current state of rare diseases.

She starts by expressing the lack of awareness as a significant challenge in the battle against rare diseases, both among the general public and healthcare professionals (HCPs). Owing to this, individuals affected by rare diseases often encounter delays in finding appropriate medical consultations. 

Dr Said explains that many opt to explore traditional avenues, which frequently results in seeking medical assistance only when the disease has progressed to advanced stages. 

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Also, low awareness among HCPs varies greatly with speciality, so paediatricians are more prone to meet the conditions than in other fields of practice. All of these contribute to misdiagnosis and delay the start of actual disease management.

Notably, the problem has roots in medical education, as there has been limited information on less prevalent diseases in the medical curricula for a long time. She thus underscores the need to revisit and enhance medical curricula to ensure that upcoming practitioners are equipped with comprehensive knowledge to handle rare conditions.

Dr Said suggests implementing in-house training and continuous medical education on less prevalent conditions to address the current knowledge gap among healthcare professionals. 

Encouraging healthcare professionals to seek guidance from experienced peers and refer cases to specialists when faced with unusual conditions can also facilitate timely diagnosis and better management of rare diseases.

Dr Said emphasises the role of research in providing essential information about the prevalence, gaps, and needs related to rare diseases. Due to the absence of this data, rare diseases have been overlooked for a long time, leading to an unplanned national healthcare budget and insufficient facilities, diagnostics, training, and treatment plans for those affected.

She lastly weighs the significance of patient advocacy groups and the inclusion of patients in management programs. Through awareness and support groups, patients have a greater voice to speak about living with rare conditions since physicians may not fully represent their experiences. 

This makes patient advocacy groups vital in raising awareness among the public and urging the government and other stakeholders to prioritise rare diseases in healthcare planning and facilities.

Is there hope in counsel-seeking?

Dr Mohamed Zahir, a professional molecular geneticist and trained genetic counsellor affiliated with the Tanzania Human Genetics Organisation (THGO), enthusiastically contributed his insights to raise awareness of genetic counselling practice in the country.

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Dr Zahir explains that counselling primarily empowers patients and parents with accurate information about suspected or confirmed genetic conditions. 

Counselling fosters acceptance, dispels stigma, and facilitates informed decision-making, considering the social, economic, and spiritual aspects. Notably, the service offers emotional relief, as families commonly perceive it as a means for expressing their feelings and finding support.

Besides emotional relief, counselling helps understand inheritance patterns linked to genetic disease, link and advise proper genetic testing for diagnosis, and, in later stages, discuss the confirmed condition with the family and the referring physician. Post-diagnosis counselling helps understand the now-confirmed patient’s physical and social management.

Genetic counselling faces significant challenges like any other field, contributed by its novelty in the country. The absence of a structured system integrating genetic counselling with healthcare services is a significant obstacle. As expected, there’s a shortage of expertise, possibly linked to the lack of specific educational courses in this field. 

Toping these issues is a general lack of awareness among the public regarding the importance of genetic counselling. The lack of understanding leads to emotional and psychological displacement for affected families, contributing to family conflicts and societal stigma. Unfortunately, this stigma is often directed toward patients and, regrettably, toward women who have children with rare conditions.

On how a patient can access genetic counselling at the moment, Dr Zahir says that within his limited practice at THGO, patients suspected of having a genetic disease are referred for genetic counselling. This referral process is facilitated through THGO’s connections with specialists in both private and public hospitals in Dar es Salaam.

However, the outreach is still in its early stages and is primarily conducted pro bono whenever necessary. Unfortunately, many patients in other regions lack access to this service.

Voices from patient advocacy groups

One of the well-known rare disease advocacy champions is Sharifa M’barak, a mother to Ali Kimara, a child with a rare condition and co-founder of the Ali Kimara Rare Disease Foundation (AKRDF).

As a parent, Sharifa says being rightly informed on your child’s condition and being fully present for your child emotionally is very important in ensuring that the child receives all necessary treatment and support needed.

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She agrees that it’s challenging for a parent or a caretaker to ensure that as it involves a significant shift in one’s way of life, but with close members in support, the challenge becomes less heavy to carry.

In Tanzania, facilities and systems to serve rare disease patients in health services and educational requirements for children with extra special needs are still in immense shambles. 

“This situation is what pushed me to found the Ali Kimara Foundation to voice the needs of children like Ali,” Sharifa told this author in an interview. “They truly need a special eye since everything surrounding their conditions is either stupendously expensive or inaccessible.”

The foundation works by first raising the general public’s awareness of the prevalent rare diseases, involving and advising national health and education stakeholders to create a friendly environment in the medical sector and education needs. 

Through community functions, utilising social media platforms, and collaborating with other organisations, Sharifa says she’s happy that ‘rare disease’ is no longer a new term among Tanzanians. Adding to the achievements is the inclusion of “homeschooling for children with special needs” in the national education policy in 2023. 

This has helped children, including Ali, who regularly are not compatible with a crowded environment due to health constraints, access education in a more friendly environment.

As a parent, Sharifa emphasises the importance of consistent emotional support and sympathises with families having a rare disease patient. She believes that with the ongoing efforts to make rare diseases popular among Tanzanians, her and others’ efforts will improve the situation.

I am ending this piece, hoping these mountains of words have brought and continue to bring a fraction of attention to the often-overlooked world of rare health issues. 

Prof Manji’s words resonate profoundly: “For the world over, it sees this as a rare disease; for the family, this is the only world it sees.”

As a community, it’s our shared responsibility to step into their world, empathise, and ensure that their daily survival is not merely a struggle but a triumph. Let’s come together to make each day a little brighter for those battling rare diseases, offering support, understanding, and compassion every step of the way.

Rachel Mtama is a research assistant at the Muhimbili University of Health and Allied Sciences (MUHAS). She holds a Bachelor of Science in Molecular Biology and Biotechnology from the University of Dar es Salaam (UDSM). She’s available at rachelmtama2018@gmail.com.