Issue 18 of “Rare Diseases & Orphan Drugs” is already available on our website. What the past 2013 year has brought to us and what we wish for the new 2014 one? The biggest news – the Institute for Rare Diseases is now a fact. What is going on with the health technology assessment in Bulgaria? Rare Diseases Library feautures an extensive review of ataxia teleangiectasia. Season greetings from “Rare Diseases & Orphan Drugs” team”.
National Alliance of People with Rare Diseases (NAPRD) and students from the Medical University of Varna are organising a Christmas charity campaign. The initiative aims to raise funds for the provision of psychology, nutrition and physiotherapy services for children with rare diseases at “St. Marina” University Hospital in Varna. On 16 and 17 December from 17 to 20 h. in Grand Mall Varna you can purchase your Christmas cards and gifts, thus supporting the people with rare diseases. Funds raised will be used to provide a free of charge psychological consultation for rare disease patients at the Children’s Clinic of “St. Marina” University Hospital. You can support this initiative in another way as well – by sending hand made cards and gifts for the Christmas bazaar. For more information, please contact Ms. Vania Dobreva from Pituitary Patient Association – +359 889 324 216 .
Support group for patients with Huntington disease and their families is currently being formed. The group aims to provide support to patients and their relatives, as well as to exchange information about advanced treatment and rehabilitation for this disease. For more information, please contact Ms. Irena Dudeva (e-mail CUREHDJHD@abv.bg).
Today, the National Assembly of Bulgaria adopted amendments to the Health Act, transposing the European Directive on cross-border healthcare. According to the adopted amendments, each patient needs to obtain authorisation from the National Health Insurance Fund (NHIF), so that the cross-border treatment he/she receive would be later reimbursed. Health Act further describes cases, in which NHIF may refuse to reimburse cross-border healthcare. NHIF will cover the costs of patients treated abroad only to the amount that is currently reimbursed in Bulgaria . The amendments also establish a National Registry of rare disease patients in the country. For more information, please visit the official site of the National Assembly.
On November 20 (Wednesday) at 11 am, the first in Bulgaria Patient Centre for Hereditary Angioedema would be inaugurated in Plovdiv (Market Centre, 50 Kapitan Raycho Street, floor 3). A team of a ENT physician, a psychologist and a social worker will consult patients with hereditary angioedema (HAE) and their families. For more information, please contact Ms. Yordanka Petkova from “Association HAE and Rare Diseases” – email: Nae_08@abv.bg, mobile: (+359) 878 518 267.
From 6 to 9 November 2013 the Department of Pediatrics and Medical Genetics at the Medical University of Varna will celebrate its 50th anniversary. 6-8 November are declared Doors Open Days, when citizens and guests are invited to get face-to-face information about the current state of pediatric practice and science, as well as to discuss any health topics of interest. If you are a representative of a patient organisation or a parent of a child with a rare disease, you are invited on Thursday, November 7 from 10 a.m. in the Children’s Clinic to a movie projection and a discussion with the clinic’s staff. On November 8, a new complex centre for thalasemia and hemophilia will be inaugurated at 12.00 a.m. For more information, please visit the official website of the National Alliance of People with Rare Diseases.
A public lecture and discussion on “Health Technology Assessment (HTA) and Prospects for Bulgaria” will be held on October 4, 2013 (Friday), from 15.30 in Auditorium 5 at the Medical University of Plovdiv. Professor Ken Stein (University of Exeter Medical School, UK), Dr Edmund Jessop (National Health System England, UK) and Dr. Domenica Taruscio (Istituto Superiore di Sanità, Italy) would be guest speakers and moderators. The discussion will be followed by a training workshop on HTA on 5 October for all interested stakeholders. For more information, please contact info@raredis.org.
ICRDOD has published its annual review on the access to orphan medicinal products in Bulgaria. You can find out more on the newly market approved orphan drugs by EMA in 2012-2013 and on their level of reimbursement in Bulgaria.
Issue 17 of “Rare Diseases & Orphan Drugs” is already available on our website. The edition is introducing the Association of the Medical Students in Bulgaria, its contribution to the rare diseases’ cause in our country and the upcoming 1st National Conference on Rare Diseases for Medical Students. In the newest issue of “Rare Diseases & Orphan Drugs” you will learn about the latest scientific journal in this field – the RARE Journal. How EUCERD completed its mandate and what is going with the implementation of the European cystic fibrosis standard are among the other interesting news.
National registry of patients with neuroendocrine tumors in Bulgaria is a joint project of BAPES and the Bulgarian Surgical Society. Primary epidemiological data for the project’s implementation was collected from February 2013 to June 2013. A standardised questionnaire was used to collect the minimum primary epidemiological information. Questionnaires were completed with the active participation and support of medical professionals from the university hospitals’ surgery departments in the country, Military Medicine Academy – Sofia, Tokuda Hospital Sofia, St Anna Hospital – Sofia, and the Oncology Hospital – Sofia. The initial investigation registered 127 NET diagnosed patients in Bulgaria. In 98 of them, NET was localised in GIT, and in 29 – in other locations. Male were 44.88% (57 persons), female were 55.12% (70). The median age of NET patients were 58.61 ± 15.59 years, varying from 14 to 87 years. The most common age of patients was 75 years. Further follow-up is needed to study NET incidence in Bulgaria.