The story of Amberly
Marilyn’s journey began beautifully, with her black curls and rosy cheeks. However, shortly after her birth, she didn’t pass her newborn hearing test. After follow-ups at Rady Children’s Hospital, we learned she had hearing loss due to the GJB2 gene, unrelated to Cohen syndrome. At 3 months, her pediatrician raised concerns about her smaller head size, leading to further tests. By 6 months, she wasn’t reaching developmental milestones, and by 8 months, abnormal movements prompted an ER visit. After genetic testing, we discovered Marilyn had Cohen syndrome, a rare disorder affecting fewer than 1,000 people worldwide. At one year old, she also didn’t pass her vision test, which is a common issue in children with Cohen syndrome.
Cohen syndrome brings a range of challenges, including developmental delays, vision loss, low muscle tone, and neutropenia (a low white blood cell count that can make her more prone to infections). Despite these hurdles, Marilyn continues to make progress. She receives early intervention services and therapy through the regional center, including physical and occupational therapy. Although it may take her longer to meet her milestones, she is working hard, trying to talk and walk with her gait trainer. I share our journey on social media to raise awareness and connect with others. While we still have many questions, we move forward, cherishing every small victory and moment of joy.