Say Cheese to Rare Disease: Williams Syndrome
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Williams Syndrome (WS) is a rare disorder, caused by a microdeletion in chromosome number 7. The lost material contains approximately 20 contiguous genes, with most notably elastin, which is the “marker gene”. WS is a non-hereditary syndrome that occurs at random and shows a wide variation in ability from person to person. It can affect brain development in varying degrees, combined with some physical effects or physical problems. Development is delayed and atypical. These range from lack of coordination, slight muscle weakness, possible heart defects and occasional kidney damage. Babies have often difficulties with eating. Certain features in the face are usually seen, such as a small nose with a convex point, full cheeks, a wide mouth with thicker lips and small teeth. The incidence of WS is thought to be somewhere between 1:7500 to 1:20000.
At present, due to its rarity, too few front-line medical and social care professionals are aware of this syndrome. Pediatricians in particular often lack the necessary experience to make the correct diagnosis, and this means that many Williams Syndrome children and their families are not given adequate opportunity to address their problems. However, the Williams Syndrome patient organizations are dedicated to redressing this imbalance, by helping to raise awareness and by facilitating a cross-border exchange of knowledge.
We, The Charity Angels of PSR Orphan Experts, an Ergomed Company, located in Hoofddorp, the Netherlands, hope to collect the money with our charity activities throughout 2020 and make the difference in:
- Supporting a day full of music for members in the Netherlands. Children with WS usually have a good sense of music and a social character and they really enjoy making, playing or listening to music.
- Increasing awareness of WS within the professional environment by creating handout materials and being present during meetings with pediatricians.
- Supporting the Dutch WS patient organization being the host for the next biannual European Federation of Williams Syndrome (FEWS) meeting in the Netherlands in 2021.
Nederlandse Vereniging Williams-Beuren Syndroom
The European Federation of Williams Syndrome (FEWS)
At present, due to its rarity, too few front-line medical and social care professionals are aware of this syndrome. Pediatricians in particular often lack the necessary experience to make the correct diagnosis, and this means that many Williams Syndrome children and their families are not given adequate opportunity to address their problems. However, the Williams Syndrome patient organizations are dedicated to redressing this imbalance, by helping to raise awareness and by facilitating a cross-border exchange of knowledge.
We, The Charity Angels of PSR Orphan Experts, an Ergomed Company, located in Hoofddorp, the Netherlands, hope to collect the money with our charity activities throughout 2020 and make the difference in:
- Supporting a day full of music for members in the Netherlands. Children with WS usually have a good sense of music and a social character and they really enjoy making, playing or listening to music.
- Increasing awareness of WS within the professional environment by creating handout materials and being present during meetings with pediatricians.
- Supporting the Dutch WS patient organization being the host for the next biannual European Federation of Williams Syndrome (FEWS) meeting in the Netherlands in 2021.
Nederlandse Vereniging Williams-Beuren Syndroom
The European Federation of Williams Syndrome (FEWS)
Fundraising team: The Charity Angels (4)
Maria Zepeda
Organizer
De Hoek, Hoofddorp, NL
Dennis Omtzigt
Team member
Hansje Bokma
Team member
Liesbeth Manniesing
Team member
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