Skin at school
The implementation of the “Skin at School” program in the Netherlands is motivated by several factors. Skin complaints are often underestimated, which affects the quality of life of people with chronic conditions and contributes to significant bullying problems in children. In every classroom there are children who suffer from skin problems such as warts, athlete’s […]
Mental Health & Wellbeing
The European Organization for Rare Diseases (Eurordis) has developed a wonderful website with a wealth of resources on mental health and well-being. We have also participated in this project. The relationship between physical and mental health is well-documented. An increase in the severity and complexity of a physical condition increases the risk of mental health […]
Policy vision on centers of expertise for rare diseases 2025
An expertise center for a rare disease is often a facility within a hospital that specializes in a specific rare condition. To gain recognition as an expertise center, an application can be submitted to the Ministry of Health, Welfare, and Sport (VWS). With this recognition, an institution can join a European Reference Network (ERN), allowing […]
What is PROS?
PROS, or “PIK3CA-Related Overgrowth Spectrum,” is a group of conditions caused by changes in the PIK3CA gene. This gene plays a role in cell growth and development. A mutation in this gene can cause certain cells to grow too quickly or excessively, leading to tissue and organ overgrowth. The severity and type of overgrowth can […]
Prof. Dr. Peter Steijlen retired
Prof. Dr. Peter Steijlen from Maastricht University Medical Center (MUMC+, the Netherlands) will retire as of January 8, 2025. Peter has been a medical advisor to our organization for many years. We would like to thank him for his contributions and wish him a long and healthy retirement!
Patient pathways
Patient pathways aim to improve the care and management of patients with a rare disease. These pathways include the “red flags” that may lead to the suspicion of the disease, the steps to reach a definitive diagnosis, and recommendations for management and follow-up. They are a very important tool in defining the best patient care […]
Merry Christmas and a Happy 2025
The CMTC-OVM board wishes everyone a Merry Christmas and a Prosperous 2025!
Overview genes and vascular malformations
Over time, researchers are gaining more clarity about which genes are involved in which conditions, and vice versa. One of these researchers is Prof. Dr. Miikka Vikkula (one of our advisors). He has developed and maintains a timeline that links specific genes (potentially) to certain vascular malformations. More information
Laurens: EUPATI fellow
Our Laurens is EUPATI Fellow! A EUPATI Fellow is someone who has completed an intensive training program through the European Patients’ Academy on Therapeutic Innovation (EUPATI). This program focuses on equipping patients, caregivers, and other stakeholders to take an active role in medicines development and health research. Purpose of EUPATI EUPATI is a European initiative […]
Help our Eden
My name is Eden, I’m 20 years old and from Wales, UK. I was diagnosed with CMTC as a baby. I have never known a life without my condition, however, I certainly encountered the difficulty of coming to terms with my body as a young child. However, as I got older and more accustomed to […]