Blog Arianna Faro December 2024
My name is Arianna Faro, and I was diagnosed with Klippel-Trenaunay syndrome at birth. I am now 33 years of age (on the cusp of turning 34) and have had a great deal of time to reflect upon my past in recent times. Before I delve into some of that, I would like to first […]
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!
Members conference NL 2024
Around 50 people participated in our conference (a limited number joined online, including from Canada and the UK). Participants came from Belgium, Germany, England, the Netherlands, Austria, Poland, and Slovakia. Quite a few members turned out to be on vacation, which meant we had fewer attendees. We plan to handle this differently in 2025. This […]
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
Blog Katie Allen November 2024
In a continuation of our blogs on working with a rare disease, this month we are discussing some of the challenges presented by more office-typical workplaces. As always these blogs are written from my perspective and experiences, so everyone will have different challenges, both from their own body experiences and based on co-workers, as they […]
Blog Katie Allen October 2024
Working with any rare disease presents many challenges, with a visible condition, like my vascular malformation, different workplaces have different hurdles to overcome. I have been lucky enough to have experience working in both public-facing jobs and in more office-typical placements. For brevity, I will discuss challenges in public-facing jobs in this blog and address […]
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 […]