An advocate for Karyotyping

Khloe is a 14-year-old freshman in high school. She is active in school and is part of many societies, including choir, basketball, and travel soccer; she is thriving. However, this was not always the case, her start to find herself within this journey has been, as described by her mum, a ‘rollercoaster.’

During COVID, Khloe’s family went to their summer cottage to escape the pandemic. It was there that Khloe’s mum noticed strange behaviours that indicated something was happening with her daughter. One specific day, during a conversation with Khloe her mother noticed she was not responding and had an ‘odd, blank smile.’ Without knowing the cause or reason it went unquestioned. As days progressed these odd behaviours became more frequent and so her family decided to take her to the children’s hospital in Michigan, where she was given the diagnosis of anxiety.

Despite this, her symptoms grew more severe.

She would repeat phrases like ‘I’m okay,’ open and close objects repeatedly and cling tightly to surfaces.

Her family did not believe her symptoms could only be explained by anxiety and so brought her back to the hospital.
She underwent many tests such as EEGs and one of them was the initial test for epilepsy which involved blowing to trigger an absence seizure. As soon as this test was conducted, she was diagnosed with epilepsy. Following this, she still constantly had tests as any of the meds did not work and so she had to take rescue meds. Due to the high frequency of episodes Khloe was having, there was a fear of immunity towards the rescue drug as she developed a reliance on taking two a day for her episodes. After many inconclusive genetic tests an overnight study, the MEG showed abnormalities in a certain area of her brain, leading to the discussion of ablation surgery. But after prolonged delays and uncertainty, a nurse practitioner encouraged the family to seek a second opinion.

At the Cleveland Clinic, a new round of brain tests was conducted trying to reach an explanation. Khloe’s condition had worsened, and she was experiencing up to 5 seizures a day; it was beginning to affect her quality of life. It was here that doctors suggested karyotyping- a form of genetic testing that examines a person’s Chromosomes to detect any structural changes or abnormalities.

For Khloe, this test was life changing as the results revealed she had Ring20. Karyotyping had finally given Khloe and her family the answers they had spent years searching. It showed her seizures were not caused by anxiety or isolated brain issues but by a genetic mutation affecting all her brain cells.

Eventually, a decision was made for Khloe to get Vagus Nerve Stimulation (VNS) surgery and since Father’s Day 2025, Khloe has not had a seizure or needed a rescue med. She also transitioned from Depakote (Valproic Acid) to Lamictal (Lamotragine) , an older but less harsh drug, after her mother read a study on the Ring20 website. Today, her mother says Khloe is improving and in a great place. Still, they remain cautious about potential triggers like lack of sleep.

She’s in the best place she’s been in six years

For Khloe karyotyping was the key that unlocked understanding.

Her mum advocated for more families to request this, believing many undiagnosed children could have chromosomal causes for their seizures. She hopes that by sharing Khloe’s story, more clinicians and families will consider genetic testing earlier.