"Muhimbili Director Calls for Rare Disease Awareness"

Janabi Advocates for Greater Awareness of Rare Diseases

DAR ES SALAAM – Professor Mohamed Janabi, the Executive Director of Muhimbili National Hospital (MNH), has emphasized the critical need for enhanced public awareness about rare diseases. He believes that increased awareness will better equip communities to understand the challenges associated with these conditions.

Speaking at an event commemorating World Rare Disease Day, Prof. Janabi urged medical professionals to expand their knowledge of rare diseases. He highlighted the importance of equipping doctors with the necessary skills to diagnose and treat these conditions more effectively.

"Empowering healthcare providers with in-depth knowledge of rare diseases will improve their ability to offer timely diagnoses and better treatment outcomes," Prof. Janabi remarked.

He also stressed the significance of continued research and the dissemination of educational materials on rare diseases. This, he explained, would provide crucial information to both the public and healthcare workers, raising awareness and ensuring that patients receive the care they need.

“The ongoing publication of research and educational content on rare diseases plays a vital role in raising awareness and ensuring that those affected receive the appropriate care and attention,” Prof. Janabi said.

Moreover, he encouraged medical professionals to utilize emerging technologies, particularly artificial intelligence (AI), to enhance their research and management of rare diseases. Prof. Janabi underscored how AI could be instrumental in improving medical knowledge and expanding treatment options.

In addition, Dr. Kandi Muze, a paediatrician and endocrinologist at MNH, called for the public to show greater support for individuals living with rare diseases. She pointed out the substantial difficulties faced by both patients and their families due to the lack of awareness and limited medical resources available.

"The collective support of communities is essential to creating a compassionate environment where those affected by rare diseases feel understood, cared for, and empowered," Dr. Muze said.

Mr. Khamis Kaundu, a father whose daughter has been living with Gaucher disease since 2016, shared his appreciation for MNH's doctors. He thanked them for their unwavering commitment in managing his daughter’s condition, particularly their efforts in securing the medication she needs from South Africa despite the rarity of the disease.

"Gaucher disease is a rare condition that impairs the body's ability to break down a type of fat. I am immensely grateful to the doctors for ensuring that my daughter receives the necessary medication from South Africa. This brings great relief, especially considering the limited treatment options available for such rare diseases," Mr. Kaundu said.

Rare diseases, also known as orphan diseases, affect only a small segment of the population and are often associated with complex symptoms. It is estimated that over 300 million people globally, or around 6 to 8 percent of the world's population, live with these conditions. However, 95 percent of rare diseases still lack approved treatments.

There are over 6,000 identified rare diseases, with more than 80 percent having a genetic basis. Two-thirds of these conditions appear before the age of two, with one-third of patients suffering from motor, sensory, or intellectual impairments. Additionally, 20 percent of those affected endure chronic pain.

The impact of rare diseases is profound, often leading to severe disability and a diminished quality of life. Many patients face a loss of autonomy or, in some cases, even death due to the lack of suitable treatments. While genetic causes are a predominant factor, some rare diseases also arise from infections or environmental factors.