What is Joubert syndrome and how is it diagnosed in children like Easton?

Joubert syndrome is a rare genetic disorder affecting brain development. It's diagnosed through genetic testing, MRI, and EEG, as seen with Easton.

Why did Easton's doctors initially miss signs of his condition?

Doctors initially attributed Easton's symptoms to immaturity or "new-parent anxiety," highlighting a common diagnostic challenge.

How does a mother's intuition help in diagnosing rare diseases like Easton's?

A mother's intuition can be critical, prompting further investigation when medical professionals might overlook subtle early signs, as it did for Easton.

Home / Health / Mom's Instinct: Early Signs of Rare Brain Disorder

Mom's Instinct: Early Signs of Rare Brain Disorder

4 Dec

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Summary

A mother's intuition led to early diagnosis of rare Joubert syndrome.
Pediatricians initially dismissed concerns as new-parent anxiety.
Easton now faces developmental challenges but brings immense joy.

Mom's Instinct: Early Signs of Rare Brain Disorder

A mother's persistent instincts were key in diagnosing her son, Easton, with a rare genetic disorder after initial pediatrician visits attributed his symptoms to "new-parent anxiety." Concerns about his legs turning purple and developmental delays were initially overlooked.

Further investigation revealed Easton had cortical dysplasia, a condition where the brain doesn't form properly, leading to epilepsy and seizures. A subsequent genetic test confirmed he has Joubert syndrome, a rare disorder affecting brain development. His parents were found to be carriers of this rare condition.

Now three years old, Easton lives with cerebral palsy and requires weekly therapies. Although he hasn't met many milestones, his joyful disposition and his mother's dedicated advocacy, shared online to support others, are a testament to hope and resilience.