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Lorelei's Story 

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Born: 2010 / Age: 13

CountryUnited States

Journey to diagnosis

Lorelei had a speech delay and in preschool entered speech therapy. In kindergarten it seemed to us that some things still weren't quite typical about her as compared to her peers, and we asked the school to evaluate her, but the evaluation came back with “she’s fine’. Not having the knowledge or understanding to pursue it further, we didn’t push. 

 

By the time she was 10 years old it gradually became more obvious that she had atypical behaviors such as pacing back and forth and didn’t engage with her peers on the same level that neurotypical girls do. Our pediatrician referred us to a MD that was a developmental behavioral specialist, who diagnosed Lorelei with high functioning autism, formerly known as Asberger’s. As a result of further evaluations, she was also diagnosed with dyslexia, a learning disability.

From there we were referred to SPARK, and testing through them discovered that Lorelei has the CUL3 mutation. Lorelei has none of the growth issues that others have reported with this mutation, and aside from the autism is completely healthy. She is a friendly, cheerful, sweet girl who loves to read fantasy and listen to music.

GET TO KNOW LORELEI

If you could have any superpower, what would it be and why?

“It would be really fun to have the ability to know every language so I could read every book in any language.”

 

Favorite outdoor activity?

"Swimming." 

If you could go anywhere in the world, where would you go and why?

"I'd like to see all of the Disney Parks. I'd like to see the fun cities out there like Paris and New York and I'd like to try out Europe." 

If you could invent something, what would it be and why? 

"I would probably invent something that could combine books and music because I like them both." 

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

"I like reading and writing books. A teacher might be fun but I don't know. I'd like a job that has something to do with things that I like to do but I don't actually know which one/" 

Current challenges

It’s hard to find good interventions for high functioning autistic kids, especially ones to help them learn to be successful socially. At school she’s friendly, but doesn’t seem to be friends with other students, and we keep hoping that she’ll find ways to make friends. 

She struggled academically for some time, which improved greatly when we had the means to send her to a private school with small ratios for the past few years, But we will be transitioning her back into public school for high school and wonder how that will go. 

Reflections & hopes for the future

 

We want to do what we can to help her be successful in life. We think—we hope that she'll be able to hold a job and support herself independently but we’re not sure and that of course worries us. But we will continue to support her the best we can to make that a possibility, and hope to gather ideas on how to do so from other parents in similar situations. 

 

I don’t know that the finding of her CUL3 mutation will help or change anything for Lorelei, but we hope that at the least it will be beneficial to increase awareness of mutations like this, and as a source to connect with other families with this mutation.

Last updated 2023

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