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Lina’s Story 


Country: Netherlands

Journey to diagnosis

We discovered that Lina has a mutation on the CUL3 gene when she was almost two years old.


Lina is a cheerful and active two-year-old girl. She doesn't walk or talk yet, but she babbles a lot and is constantly on the move.

We had decided to do a DNA test because she has a significant developmental delay, and the doctors suggested it as an option to explain the cause of this delay. On a Monday afternoon, I had a phone appointment scheduled for 4 p.m. with the clinical geneticist who would inform me about the results of the test. I wasn't expecting anything to come up, so I didn't feel much anticipation beforehand. From the time Lina was 4 months old until her first year, she spent a long period wearing a hip brace, followed by 3 months in a cast. Additionally, she had severe nearsightedness. I suspected that her delay was due to these factors. Therefore, it was a complete shock to me when the geneticist told me they had found something: a pathogenic mutation on the CUL3 gene.


Unfortunately, the geneticist couldn't provide much information because there is still limited knowledge about it. In my quest for more information, I decided to look on Facebook. Soon, I came across the Simons Searchlight CUL3 group! I was thrilled to connect with other parents. The contact with other parents has been immensely helpful in processing and accepting the news, and I have also found a lot of useful information. I am so grateful to have found this group and now even a website, so that other parents who receive the news can quickly access this information.

Reflections & hopes for the future


Lina is doing well. She has speech therapy and physiotherapy twice a week. She has a developmental delay, but she is a very sweet and cheerful girl. I hope she will always approach life with such happiness, just as she does now, and that her spirit won't be changed by the obstacles on her path.

Last updated 2023

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