Rare disease day 2024

This year, our Patient Advocates from Canada, Austria and South Africa were active.

On the final day of February, this year that was the 29th, Rare Disease Day is organised by the VSOP, the Dutch National Patient Alliance for Rare and Genetic Diseases. During the evening programme, the Rare Angel Awards were presented to three award winners for their extraordinary significance to people with rare diseases. These awards are presented each year since 2009.

Rare Angel in the category ‘Patient Representative’: Chantal de Langen
She demonstrates an exceptional commitment to patients with Hirschsprung disease, a congenital condition of the colon that renders the production of stool either impossible or very challenging. Chantal passionately advocates for more nationwide awareness of this condition and for its timely recognition. She has been active for Vereniging Ziekte van Hirschsprung (a patient organisation for people with Hirschsprung disease) for over nine years. She started as a volunteer, but she is now president of the organisation. She goes above and beyond the usual duties of regular board work and stars alongside her daughter in the campaign videos ‘Taboemoe’ (Tired of Taboo) and ‘Listen to your guts’ from the Maag Lever Darm Stichting. This way, she reaches the media about the importance of early diagnosis and breaks the taboo surrounding the condition. The judges found that impressive and courageous.

Rare Angel in the category ‘Healthcare professional/Scientist: Frank Staal
Prof. Dr. Frank Staal is full professor of Molecular Stem Cell biology at Leiden University School of Medicine (LUMC). For about 30 years, he and his team have been working on the development of gene therapy for rare immunological disorders. They are the first in the world to have developed stem cell gene therapy for children with the severe immune disorder ‘Severe Combined ImmunoDeficiency (SCID). Children with SCID are born without the essential immune cells, and could therefore die within the first year after being born. The condition also became known under the name ‘bubble boy disease’ because of David Vetter; a young patient who only managed to live until the age of twelve by living in a plastic bubble, that protected him from fatal germs. Frank is determined to make gene therapy accessible to many more patients with rare genetic conditions.
The judges were impressed by his groundbreaking scientific research, as well as his commitment to the well-being of his patients.

Rare media Angel: Jan-Willem Roodbeen
Eight years ago, Jan-Willem Roodbeen brought attention to the personal story of a carrier of the gene for Huntington’s disease on the radio program ‘Roodshow’. Since then, he has selflessly served as an ambassador for this hereditary condition, and he regularly devotes time to it in his radio programmes and TV-performances, handling the topic with integrity. As a result, over 5 million euros were donated to promising research projects, and public awareness of Huntington’s disease has significantly increased.
“His altruism, sincerity and devotion make him a valuable ambassador and an inspiration to us all”, according to the Campagneteam Huntington and the Vereniging van Huntington.
To his great surprise, Jan-Willem won the award during the airing of ‘Jan-Willem Start Op’ on the morning of Wednesday, February 28th.

Elwin Lentze, dad to a daughter with a rare disease, musically curated the event and performed, including a rendition of ‘One in a Million’, which portrayed his daughter’s journey in a deeply moving manner with beautiful visuals.

Since 30 January, our Our Patient Advocate Katie has made a post for the Facebook Canada page every day.

Our Patient Advocate Silke, has participated in Rare Disease Day in Austria. Here is her report:

International ‘Rare Disease Day’ took place on 29 February 2024! On this day, we aim to collaborate in raising awareness for rare diseases for people all around the world.
For this reason, numerous doctors from the Medical University of Graz and the University Hospital Graz came together at a shopping centre in Graz.

In my role as an Austrian patient representative for CMTC-OVM, I was invited by Dr. Paulo Gasparella, who assists CMTC-OVM as a medical advisor in Austria, to be part of this Rare Disease Day event. I had the opportunity to tell interested passersby about rare vascular diseases. The people in Graz were very interested, and we had a lot of pleasant conversations!

Our Patient Advocate Erika participated in the Eurordis (European organisation for rare diseases) photo award, and she won second place with this beautiful and telling photograph.