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Annelie’s Story 

Foto Annelie.jpg

Born: 2011 / Age: 12

Country: Netherlands 

Journey to diagnosis

During the pregnancy, Annelie was already too small for her gestational age. They thought she was two weeks less old, and in the end she was born at 42 weeks, and she was 45 cm and weighed 2330 grams. Annelie developed quite normally, except that she remained very small and started talking late.


When she started kindergarten, it soon became apparent that she developed more slowly than her peers. When she was 5 years old she followed speech therapy and when she was 6 years old we took her to the pediatrician to investigate the explanation for her short stature and her developmental delays. After genetic testing it turned out that she has a mutation on the CUL3 gene. At that time nothing was known about it.  


What's your favorite toy? 

“My favorite toys are My Little Ponys.”  

What is your favorite cartoon? 

“My favorite cartoon is The Wings.”    

What is your favorite animal and why? 

“Puppies and kittens, because they're so sweet!.”    


If you could have any job in the world, what would it be? 

“I would like to become an actress or singer.”    

After a year, when Annelie was 7/8, we received a call from the clinical geneticist that a scientific study would take place, because in the meantime several reports had come from other people worldwide with a mutation on the CUL3 gene and a matching description in terms of developmental delays. We are now 4 years later and we know that the scientific research was done in France and that the cases of ultimately 32 people were compared with each other. The research will be completed soon and we will hopefully learn more about what her mutation entails.

Current challenges

Annelie no longer participates in regular education, her arrears became too great. And it is also difficult to find activities that she can do together with other children. Certain hobbies are difficult because she has trouble automating. And mentally she is a few years younger than her peers. Connecting is a challenge.


Reflections & hopes for the future


Fortunately, she can go to special education in the Netherlands. This way she can go to school together with other children who also have their difficulties. She likes going to school very much. In her spare time she likes to swim. What will her future look like? Who will know. So much is still unknown about her mutation. It is also very likely that she will not be able to live completely on her own. But, with the right guidance, she will also find her place.


Annelie is a cheerful girl and enjoys life. She lives in the now. Yesterday is gone and don't worry about tomorrow. An example for many people.

Last updated 2023

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