June Warrior
Lukah
At 37 weeks pregnant, Lukah's mother discovered that her son had a rare condition known as mosaic Trisomy 1Q, along with several other complex conditions, including the need for brain surgery.
Genetic testing revealed that only 1.2% of Lukah's chromosomes were deemed "normal," a tiny fraction that played a crucial role in saving his life.
Mosaic Trisomy 1Q is a rare genetic condition characterised by the presence of an extra copy of genetic material from the long arm (q arm) of chromosome 1, which occurs in only some cells of the body.
"Mosaic" refers to the pattern in which this extra genetic material is present, meaning it is not found in all cells but rather in a mosaic or patchwork distribution throughout the body.
This condition typically arises spontaneously and is not inherited from parents.
The specific effects of mosaic Trisomy 1Q can vary widely depending on the extent and location of the extra genetic material, as well as which tissues or organs are affected.
Common symptoms may include developmental delays, intellectual disabilities, distinctive facial features, structural abnormalities, and various medical issues such as heart defects, seizures, and brain anomalies.
Although epilepsy had been initially considered part of his condition it was later ruled out during infancy.
Sadly, Lukah experienced a sudden onset of seizures around Christmas last year, with seven seizures occurring in a single day.
He was rushed to Queensland Children's Hospital and his official epilepsy diagnosis came in February 2024.
Despite facing epilepsy and other health issues, Lukah remains resilient, always wearing a smile regardless of life's obstacles.
His remarkable strength and bravery inspire those around him, especially his family. Even coping with Global Developmental Delay (GDD), Lukah continues to make progress and gives his best effort every day.
Due to its rarity and variable presentation, mosaic Trisomy 1Q often requires individualised medical management and supportive, tailored care.
Currently, Lukah's family is navigating the challenges of finding the right medication to manage his seizures. While the process proves to be difficult, they remain dedicated to providing the best possible care for him, fuelled by their love and determination.