Young Girl Defies Expectations After Rare Disease Diagnosis

Photo by Marcelo Leal on Unsplash

( – Nine-year-old Cassie DeChene has gained some media spotlight recently for a stunning reason. According to a new report, Elizabeth and James DeChene revealed their little girl is one of the most outgoing and happy people they know and everyone is drawn to their daughter’s friendly character.

However, her personality is not the only unique thing about her. When she was 2 years old, Cassie was diagnosed with a mutation in her CHD4 gene. Across the world, approximately 100 people are known to have a neurodevelopmental disorder connected to their CHD4-gene, and Cassie is the only recorded case of her specific gene mutation.

Still, the mutation has not stopped the little girl from growing up. In the past nine years, the family revealed that they have had to deal with multiple medical appointments, physical therapy, and occupational therapy in order to help their daughter grow. James and Elizabeth DeChene also found a great school for their daughter at the Newark Charter School and have managed to surround themselves with a positive community environment.

Cassie, born in December 2013, was deemed to be a completely healthy child when she was first born. However, Elizabeth DeChene who works as a genetics counselor at the Children’s Hospital of Philadelphia, was quick to start noticing certain things about her daughter when she was just a few months old. Cassie was unable to lift her head and was quite weaker than her brother, Grayden had been as a child.

This resulted in her starting occupation and physical therapy from the time she was five months old. However, it was a few years before additional testing revealed that their daughter had a mutation. This was because they had originally delayed getting a diagnosis for fear that it would hurt their bond as a family.

According to the report, she and her family faces many challenges during her early years, with doctors saying she may never be able to walk or talk. However, while she still deals with some issues, such as being impulsive or easily distracted, she now loves to talk and runs 5Ks.

Because her disease is so rare, it’s still unclear how it may continue to impact her in the future. For now, it appears DeChene is enjoying her childhood and her parents are putting their energy into advocating for those with rare conditions.

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