Dr. Jannat Hakem, an internal medicine professor at Bir Traria Hospital in Al-Abyar and a rare diseases specialist, as well as a member of the Ministry of Health’s task force on these diseases, told “Echorouk” about the importance of the digital platform announced in the official gazette concerning rare diseases. She confirmed that the latest data indicate the presence of 123 types of these diseases in Algeria, noting that the platform is open to registering other types after defining their characteristics, following its official launch in September.

Dr. Hakem explained that some rare diseases, although present in Algeria, are not listed on the digital platform and are considered “orphan” diseases with a limited number of patients worldwide.

Regarding the rare disease “Gaucher,” a rare genetic disorder caused by a deficiency of the enzyme “glucocerebrosidase,” leading to the accumulation of “glucocerebroside” fats in cells and organs such as the spleen, liver, and bone marrow, she clarified that the internal medicine department at Bir Traria Hospital treats 200 patients with this disease who are continuously followed up and included in the platform’s rare disease registry.

Dr. Jannat Hakem also confirmed on Saturday at the “Mercure” hotel during the World Gaucher Disease Day celebration that the plan for these diseases helps identify and regulate related data, enabling some patients who suffered from late diagnosis and treatment. She pointed out that some disease types are “orphan” and incurable, and even some advanced rare types do not respond to medication.

In this context, Hayat Bonab, president of the national association “Imane” for the prevention of “Trisomy” diseases—a genetic disorder caused by an extra chromosome in cells—said there have been serious recent efforts to care for rare diseases. For example, the “John Zeim” laboratory donated medicines in April to treat one type of rare disease in Algeria, awaiting the arrival of medicines for another rare type.

Bonab called for the integration of children with certain rare diseases into regular schools or, if necessary, special classes, with the employment of social and psychological specialists to support them during their educational journey.

She also noted that most medicines purchased by patients or their guardians are not fully reimbursed, and some are not reimbursed at all. She urged attention to this issue, activation of early screening before marriage for genetic diseases, and recording medical tests in the health certificate of marriage candidates.

The meeting that brought together doctors, specialists, and some rare disease patients discussed the role of technology in identifying rare disease types, as it has become an indispensable tool for early detection, accurate diagnosis, developing treatments, and connecting patients with rare disease experts. This technological progress offers real hope for patients with diseases that were previously misunderstood or untreatable. Some patient guardians attending the meeting said that the journey to discover the causes of some symptoms cost them a lot of money and wasted time due to conflicting tests and medical data and lack of understanding of some medical conditions.