To celebrate World Rare Disease Day in Egypt, Qasr El Ainy, which is the largest government –affiliated hospital, held its third annual event at El Mounira Children Hospital under the title of "Inspirational hearts and minds."
The event bought together doctors , patients, media , NGOs and support groups to highlight the current situation and call for more collaboration between all entities to alleviate some of the suffering the patients endure.
Although this day is celebrated worldwide at the end of February, the event took place in the first week of March.
At the beginning, Doctor Neveen Soliman, professor of Pediatrics at Cairo University and Head of the National Association for Rare Diseases (NARD) stressed that the most important current requirement is the spread of local awareness and emphasised the importance of better diagnostic tools.
Three cases were introduced to highlight the stories and dilemmas that those patients go through.
The first case recounted an agonising journey of knocking on doors of different clinics, doctors and hospitals and looking for a diagnosis. It was 10 years before someone finally recognised what he was suffering from.
The second case was of a 30-year-old mother who suffered from a rare disease that was supposed to prevent her from getting married and bearing children, but fortunately and due to awareness, she was diagnosed at a very early stage, and could receive the right treatment and was blessed later on with a daughter.
The third demonstration was that of two brothers. Both of them suffered from a very rare kidney disease. The younger brother was diagnosed correctly and treated earlier than his older brother. Subsequently, the former developed a normal growth rate, while the latter who was diagnosed and treated later suffered an impact on his height and weight.
"We are committed to providing the genetic testing necessary for rare disease at all Qasr Al Ainy hospitals in the near future," said Dr Khaled Makeen, Faculty Deputy for Community Service Affairs and Environmental Development at Cairo University.
The Doctors stressed the importance of better inclusion in society of rare disease patients and halting the process of their isolation.
“In Egypt we use this day to raise awareness and encourage decision makers to join the rare disease community to better understand their effects and the challenges that patients face and provide the latest diagnostic and treatment options to all rare disease patients, to help them live normal lives and integrate themselves into productive segments of society,” said Dr Ahmed Sobhy, Deputy Director of Cairo University Hospitals.
Some of the speakers emphasised that progress had been already made in Egypt.
"In Abu El Rish Pediatric Hospital is one of the most important examples of progress witnessed in Egypt in terms of diagnosing and treating these diseases, and we hope that this will be replicated in all hospitals, "said Doctor Hussein Khairy, Head of the Medical Syndicate.
The obstacles facing the patients were highlighted by Dr Hafez Bazaraa, Director of the Cairo University’s Mounira Children’s Hospital as follows:
-High cost of treatment, compared to medications given in cases of conventional diseases.
-Lack of awareness regarding the nature of these diseases among civil society and healthcare organisations.
-Symptoms often mimicking those of other more widespread illnesses, which leads to a delay in diagnosis and complications during treatment.
-Most of the medications used to treat rare diseases have not been registered with the Ministry of Health, which results in their illegal entry into the country.
-More awareness regarding early detection has to be introduced; especially that 80% of causes are hereditary.
According to WHO, a disease is considered rare if it affects only about 1 in 2000 people.
30 million people worldwide suffer from rare diseases with 80% of the causes being genetic, while the remaining 20% are attributed to viral and bacterial infections, allergies, and environmental reasons. 50% to 60% are children.