Rare disease diagnosis of little angel changing perspectives and definitions

Born into lives that she would change forever, Cory Claire Lloyd is the rarest of miracles.

Now approaching her first birthday, Cory Claire began having severe seizures within moments of her birth, and her parents’ search for answers has brought only more questions. Samantha Lloyd gave birth to Cory Claire on September 19 but would not be able to hold her daughter for almost two months. Taken from her mother immediately, Cory Claire would spend three weeks in ICU and another 27 days in various wards and hospitals before the Lloyds brought her home 48 days after her birth.

In trying to have Cory Claire’s condition diagnosed, genetic and metabolic testing was done in South Africa but no explanation could be found. Even EEG scan results came back normal leaving the Lloyds and medical staff baffled. “The hardest part was when they told us to start making memories,” said father Bradley, relaying that doctors gave Cory Claire a 2% chance of survival.

Cory Claire’s eventual diagnosis came after her blood was sent to doctors in the United States. In what is the only known case in South Africa and one of 120 known cases worldwide the infant girl was diagnosed with KCNA2 Epilepsy, a rare disease that affects the potassium channels in the brain. There are three types of KCNA2 mutations – either gain of function, loss or function or combination of function mutations – with Cory Claire having the combination which is a mix of both gain and loss of function.

Described by Samantha as a normal pregnancy, the Lloyds’ lives have been anything but since Cory Claire’s birth. Bradley works Monday to Friday as an automotive engineer but Samantha, a popular hairstylist, was forced to cut her hours to just Fridays and Saturdays. After sleep-deprived nights the couple are up at 05:00 every morning to feed Cory Claire before a day filled with medication, motor-function exercises and any one of four different types of daily therapy sessions.

Not wallowing in any self-pity, their daughter’s condition has given the couple a new perspective. No longer consumed by trivial worries, every second of their day is dedicated to the growing bundle at the end of her parents’ loving gaze. The Lloyds are committed to giving Cory Claire the best treatment to take advantage of her developmental years, as Samantha explains, “Her brain is still plastic and what we do now will impact the rest of her life”.

Other than the physical and emotional stress, the cost of raising their daughter escalates monthly. Having stretched their resources thin, Bradley and Samantha launched a BackaBuddy campaign earlier in the year and will be having a fundraising event to support Cory Claire’s care. Bolstered by raffle vouchers for hair and tattoo sessions with sought-after artists, a Nite Fever party will be held at The Barnyard Silverstar on August 31.

Named after their maternal grandparents and allowing for a unisex variation after keeping her gender a secret until birth, Cory Claire’s every action is mentally documented.

“Imagine being held by a string, not knowing what is to come. We are still learning and she is our teacher. She teaches the doctors too,” joked Bradley. Tickets are still available for the disco spectacular and every cent goes toward keeping a light burning for the rarest of angels.

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