My name is Nikolinka Yordanova. I am a pediatric endocrinologist and core specialist of our PWS Multidisciplinary team at the First Pediatric Clinic, University Hospital “Sveta Marina“ in Varna, Bulgaria.
The head of our Department, Prof. Violeta Iotova has collaborated with the BIRD Foundation since the early 2000s. There are currently 20 patients in our center (16 children and four adults), half of them are confirmed through testing at BIRD, which is funded by IPWSO.
In Bulgaria MLPA (genetic testing) was introduced about 10 years ago, in Varna it has been available since the beginning of 2020. There is no reimbursement for this expensive genetic test and most of the families are not able to pay for it. Sending a sample of dried blood spot by post is a very simple and cost-effective way to confirm a diagnosis and to give the patients the chance to then start on other therapies such as Growth Hormone as early as possible.
Our patients and staff are very thankful to BIRD and IPWSO for the excellent collaboration and timely diagnoses and we hope that we will continue to work together in the future!
The photo on the right is of a 4 year old Bulgarian girl with PWS wearing the national dress. She took part in special celebrations (with a group of young girls singing, dancing and wishing prosperity) before Orthodox Easter.
My direct contact with IPWSO first came in 2019 when we organised a meeting here in Bulgaria with patients and their families. With the support of IPWSO, Dr Susanne Blichfeldt (IPWSO adviser and member of the Clinical and Scientific Advisory Board) came to the conference to share her knowledge and experience with us. Following that event, a parent of one of my patients and I applied for and won a grant from IPWSO to visit the International conference in Cuba later that year.
And of course anytime I have a question (both diagnostic or therapeutic issues) or just need advice I am able to connect very easily with the IPWSO board and to have their expert opinion in order to help our patients.
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