Every year on Rare Disease Day in February, countries around the world highlight the struggle of those with rare diseases. Over thirty million people worldwide -- around half of them children -- suffer from rare diseases, 80 percent of which are genetic in origin, and the annual event, which occurs on the last day of February, aims to raise awareness and increase support for those suffering. In 2017, Egypt took part of Rare Disease Day, and for the first time in its history, Qasr El-Aini, the largest government-affiliated hospital, was lit in the three colours that symbolise the cause worldwide: blue, green and pink. To commemorate the occasion, the National Association for Rare Diseases held a forum on 7 March in collaboration with the Friends of Abul Rish Children's Hospital and the private sector's Novartis Pharma. The event bought together experts and representatives from the Ministry of Health and the Central Administration for Pharmaceutical Affairs to highlight the current situation and call for more collaboration between different involved parties to alleviate some of the suffering the patients endure. Rare diseases in Egypt According to Dr. Hafez Bazaraa, a professor of paediatric medicine at Cairo University, a disease is considered rare if it affects 1 in 2,000 or 2,500 individuals. Dr. Neveen Soliman, professor of paediatrics at Cairo University and founder of NARD stressed that the most important priority in Egypt was to spread awareness of the issue. She also emphasised the importance of better diagnostic tools and medical research. “This year we discussed establishing a rare disease centre encompassing relevant authorities to improve patient conditions and create a registry to help ensure the availability of the most effective treatments,” Soliman said. Bazaraa described most common challenges that face patients as high cost of treatment in comparison to conventional diseases, and a lack of awareness of these diseases among civil society and healthcare organisations. He added that symptoms often mimic those of more widespread illnesses, leading to a delay in diagnosis and complications during treatment. “Knowledge sharing is vital to overcome these challenges and drive significant improvement in patients' lives. There are 200 to 300 rare diseases in Egypt which can affect the kidneys, the liver, the nerves and many other organs, patients have every right to receive effective medications,” he said. New breakthroughs Local experts also seized the opportunity of the seminar to shed light on recent breakthroughs treating rare diseases that are prevalent in Egypt. Dr. Marianne Youssry, a professor of paediatrics at Cairo University talked about tuberous sclerosis complex, a disease that affects children. "TSC is a genetic disease causing severe seizures and negatively impacting organs such as the heart. It can also lead to benign tumours in the kidneys and chest. But now new treatments address these complications, and help shrink brain and kidney tumours," she said. Dr. Mervat Matar, a professor of haematology at Qasr El-Aini Hospital, specified recent advancements in her field. "Myeloproliferative neoplasms are non-hereditary and pose a serious risk to the lives of patients," she said. Matar explained that in Egypt it is difficult to differentiate MPN from other common diseases like schistosomiasis and hepatitis C. "The reason is the similarity of symptoms which include an enlarged spleen, fatigue, abdominal pain or pain under the ribs, as well as muscle and bone aches and rapid weight loss. Ultimately the disease is usually diagnosed at an advanced stage,” she added. Matar said that only recently new drugs have provided a breakthrough in the treatment of this rare disease, helping transform disease-causing cells into normal cells.
