February Warrior
Goldie
Born on December 30, 2017, Goldie's life was turned upside down at 9 months when she began experiencing seizures. Initially, her parents, Charlene and Colin, hoped medication would be the answer. However, Goldie's condition proved to be resistant to treatment, a common struggle for those with CDKL5 Deficiency Disorder (CDD).
In 2020, in an attempt to reduce the seizures, Goldie underwent a significant brain surgery known as a hemispherectomy, where the entire left side of her brain was disconnected. Despite the seriousness of this procedure, it was sadly unsuccessful in stopping her seizures. Goldie returned home not only still having seizures, but also with physical deficits from the surgery. This was devastating to her family, leaving them with no answers until genetic testing revealed the root cause: CDKL5 deficiency, a rare and complex form of epilepsy.
CDKL5 Deficiency Disorder, identified in 2004, is a rare X linked genetic disorder caused by mutations in the CDKL5 gene, located on the X chromosome.
This gene is crucial for normal brain development and function. The disorder is characterised by early-onset, difficult-to-control seizures and severe developmental delays, impacting cognitive, motor, speech, and visual functions.
Most people affected start experiencing seizures within the first few months of life, often leading to severe developmental delay. This combination of symptoms is medically described as developmental and epileptic encephalopathy (DEE).
Despite the numerous challenges Goldie faces daily, she remains golden ray of sunshine.
Her smiles and giggles bring light and warmth to her family – Mum, Dad and brother, Rocky – and all who meet her.
Goldie's journey illustrates not just the struggles associated with CDKL5 Deficiency Disorder, but also the strength, resilience and love that comes out of living with Epilepsy.