Welcome to the International Pompe Association (IPA)
On June 10, 2014 Dr. Juna de Vries received her PhD on 'Natural course, effects of enzyme therapy and prognostic factors in adults with Pompe disease' at the Erasmus University Rotterdam.
Enzyme replacement therapy (ERT) using alglucosidase alfa (Myozyme) is the first disease specific treatment fo an inherited neuromuscular disorder, which makes the situation for Pompe disease rather unique. Registration of ERT in 2006 was predominantly based on the positive results obtained from clinical trials performed in infants with classical infantile Pompe disease. Information on the effects and safety of the use of alglucosidase alfa in children and adults with Pompe disease was limited at start of the research of this thesis. For that reason, the Dutch nationwide prospective observational study on the natural course and the effects of ERT in children with Pompe disease started in 2004 at Erasmus MC. In addition, patient-reported information on handicap, quality of life and fatigue was gathered via the international IPA/Erasmus MC Pompe Survey where Pompe patients all over the world participated in.
Polish patient organisations plant the first tree in Pompe Garden!
During International Pompe Day the Polish Association of Pompe Patients in partnership with Genzyme launched the social campaign 'Pompe Garden'. This aims to increase knowledge about Pompe disease. Currently about 30 patients are diagnosed in Poland. The ceremony of tree planting took place at the new Peadiatric Hospital of the Medical University of Warsaw.
The Pompe Garden will be a place where rare plants will be planted and to allow people to 'meet' and 'see' the rare plants as symbol of the rare Pompe disease. It will be a place where patients will meet and celebrate International Pompe Day every year. The action was supported by the Medical University of Warsaw, the National Forum for Rare Diseases and the Parliamentary Assembly for Rare Diseases.
The celebration of the first International Pompe Day began with an educational meeting at the Medical University of Warsaw, where Pompe patients had a chance to share their stories with gathered guests and media. The symbolic tree was planted by Maciej Ptasinki (President of the Association of the Association of Patients with Pompe disease), Miroslaw Zielinski (President of the National Forum for Rare Diseases), Barbara Czaplicka (Polish politician) and Marek Kulus (Vice Rector of the Medical University of Warsaw). Before the tree planting specially trained volunteers educated the citizens of Warsaw about Pompe disease.
The Polish patient groups belief that this initiative will help to break the silence around rare diseases and will positively influence the attitude and awareness of society towards these diseases. Thanks to activities like this people can directly experience the contact with rare disease patients and integrate with them. Everything to experience that Together We Are Strong!
Attention for Pompe Disease in Russian Newspaper on International Pompe Day
On International Pompe Day the Russian Pompe Association was able to get an article on Pompe Disease in one of the Russian newspapers. In the article information on Pompe disease has been provided and the issues involved.
In Russia several patients are diagnosed, but up till now for most families this is a rollercoaster of uncertainty and hope. The Union of Patients and Patient Organisations for Rare Diseases explained in the article: "Vasen'ka was one of the first patients in Russia diagnosed with Pompe disease. To prevent him to get infections the Charitable Fund 'Family for Every Child' helped to get an isolated ward for him. It was essential to protect him from hospital infections".
Currentlly 8 patients are receiving enzyme replacement therapy via a charitable program from the manufacturer Genzyme. Unfortunately there is still a low awareness among physicians about Pompe disease. According to the patient organisation "the Russian Federation has not yet claimed responsibility for the full amount of medical specialist care and treatment for this small group of patients. Lack of timely diagnosis leads to a delayed treatment and results to severe disability and death."
In order to improve awareness on Pompe disease among physicians and patients the patient organisation launched a website in April. On this website detailed information can be read about Pompe disease, care and treatment.
The Union of Patients and Families with Glycogen Storage Diseases and the Union of Patients and Patient Organisations for Rare Diseases have sent an appeal to the Ministry of Health of Russia about the need for urgent action to improve diagnosis and to provide care and treatment for people with Pompe disease. On Twitter one could read that at the annual event where Russian citizens can ask questions to the President of the Russian Federation Mr. Putin patients did ask him about his policy for rare diseases.