On the occasion of Rare Disease Day 2012 in Bulgaria we would like to introduce you to the story of a patient with the rare disease phenylketonuria. Phenylketonuria (PKU) is an inherited disorder, caused by the deficiency of the enzyme phenylalaninehydroxylase. This lack leads to inability to metabolise normally phenylanine. As a result, various intermediate metabolic substances are accumulated. PKU symptoms manifest in early infancy – restlessness, vomiting, eczema, decreased muscle tone, abnormal reflexes. Seizures may also occur after 6-month age. Later, there may be behavior changes: aggression, self-aggression, autism. PKU is diagnosed with neonatal screening, which is mandatory in Bulgaria. Treatment of PKU generally represents a phenylalanine-low diet. Kevin Alexander is a PKU patient from the USA. He is also a professional videographer and filmmaker, who has prepared a 10-minute video for PKU. This material is for educational purposes and is available to see here.
Rare Disease Day 2012 campaign started in Bulgaria this Sunday. Over 200 guests have attended SubUrbia play in National Army Hall in Plovdiv. Over 1 700 BGN have been donated to support a 3-years old kid from Plovdiv, suffering from the rare disease arthrogryposis. This week the events continue in cities of Pleven and Stara Zagora. SubUrbia tour comes to Pleven on 18 February (Sunday), starting from 14.00 in Katya Popova Hall. On the same day, rare diseases children, their parents and friends will make kites in Park Mall Stara Zagora from 16.00.
Lymphangioleiomyomatosis (LAM) is a degenerative and invariably fatal lung disease which affects women in their child bearing years. The disease significantly and progressively impairs respiratory function, leading to the formation of cysts in the lungs and subsequent destruction of healthy lung tissue. Difficult to pronounce and even more difficult to diagnose, LAM is often confused with other respiratory conditions, including asthma and bronchitis.
Following the first European LAM Research Conference in 2010, LAM patient and research groups within Europe aim to create a European LAM Patient Federation by December 2012. The newly formed federation will focus on supporting LAM research and will coordinate communication with existing LAM patient groups. If you are further interested in LAM or you want to join the Federation, please visit http://www.europelamfederation.org/.
On the ongoing 7th International Conference for Rare Diseases and Orphan Drugs (ICORD) in Tokyo were held elections for board officers. Mr. John Forman (NZORD) will succeed Dr. Virginia Llera (GEISER Foundation) to the Presidency of ICORD. The director of ICRDOD, Prof. Rumen Stefanov was elected member of ICORD Board. ICORD is an international society for all individuals active in rare diseases and orphan drugs, including health care, research, academic, industry, patient organizations, regulatory authorities, health authorities, and public policy professionals. Next ICORD meeting is scheduled for October 2012 in Shanghai.
“Rare but strong together” is the offical motto of Rare Disease Day 2012. The Bulgarian National Alliance of People with Rare Diseases and Association Pulmonary Hypertension Bulgaria are organizing a charity performance of the theater play “SubUrbia” in Plovdiv, Pleven, Stara Zagora and Sofia, respectively on 12, 18, 25 and 29 February 2012. The event in Plovdiv is scheduled for 12 February at 14.00 h in the Hall of the National Army.
“SubUrbia” is a play of American playwright Eric Bogosian. It features young artists from “Mask” Theatre Studio and it is directed by Lyubov Pavlova. The ticket price is 2 lv. For more information, please contact NAPRD coordinators in the corresponding cities.
The Second National Conference for Rare Diseases book of proceedings is already available on our website. You can find all the conference presentations and posters in it. Preliminary information about the Third National Conference for Rare Diseases will be announced soon.
We are pleased to present you the new updated ICRDOD’s website. It offers many new services, such as subscription for “Rare Diseases & Orphan Drugs”, updated library of rare diseases descriptions and useful information, new contacts forms, as well as online rare diseases registry. Please, note that some sections are still in process of constraction and update. Have fun surfing our site!
Dear friends, ICRDOD wish you happy holidays! Let the new year bring you lots of good health, joy and success!
Data for 255 patients with thalassemia major was collected during Phase III of the project. The Organization of Thalassemics in Bulgaria and university hematology clinics have greatly supported and helped the implementation of this phase. 251 patients (98.43%) had consented to be officially registered. Proportion of men (51.16%) is slightly higher. The average age of patients is 21 years, while minimum one is 1.5 years and maximum one is 64 years. Based on the information about birthplace, most patients with thalassemia are born in Sofia, Plovdiv, Stara Zagora, Burgas, Varna, Haskovo, Pleven and Ruse. The calculated non-standardized prevalence is 3.46 per 100 000 people. Patients are treated and followed up in 8 administrative regions in the country, as in Sofia and Plovdiv there are respectively three and two hematology centers.
Association “Cystic Fibrosis” continues its charity campaign to raise funds for renovation and equipment of а „cystic fibrosis” room at the children’s ward of University Hospital “St. Marina”. With the support of many friends and partners the association has prepared a new charity calendar for 2012, which is full of the smiles of children, suffering from rare diseases. If you want to help establishing a “cystic fibrosis” room, you can buy one of these smiling calendars. All proceeds from the sale will support this project, which will provide a better treatment of rare diseases kids. You could find how and where to buy this calendar on the website of the Association “Cystic Fibrosis”.