On 8 February, doctors from Almazov Centre held an on-site patient consultation in Pskov as part of the Kindness Landing project. The visit included a joint consultation and examination of 13 babies with rare diseases that posed diagnostic or tactical challenges for the doctors treating them. The patients had various genetic, neurological, orthopedic, metabolic, rheumatic conditions and cancer.
«Developing the right management tactics for each case required a multidisciplinary approach involving specialists from different fields. As a result, all patients received recommendations for additional tests and further management tactics. If necessary, the remote consultation will continue,» said Elena Gurkina, Deputy Chief for Medical Affairs at Almazov Centre.
A round table with experts, pediatricians, geneticists and other specialists working with orphan patients was also held at the Regional Children's Clinical Hospital in Pskov. The meeting was attended by representatives of patient organizations and the regional administration. Issues related to detection and diagnosis, organization of treatment and rehabilitation of children with rare genetic diseases were discussed.
Dr. Tatiana Pervunina, Director of the Institute of Perinatology and Pediatrics at Almazov Centre, Chief Visiting Pediatrician of the St. Petersburg Health Committee, drew the Pskov doctors' attention to the importance of ‘orphan alertness’. She believes that all pediatricians should be familiar with the symptoms of rare diseases. By knowing them, specialists can recognize them in time and warn parents. The expert therefore believes that orphan alertness should be increased not only among doctors, but also in society as a whole, as the success of treatment often depends on the timely detection of the disease.
The Kindness Landing project was initiated by Genome Patient Care Center and its head Elena Khvostikova.