Navigating through the uncertainties of what lies ahead, 15-month-old Beau’s mum, Nicole, has one main goal: to make his life as enriching as possible, adding life to years, not years to life.
Beau was born with a very rare genetic condition called Menkes Disorder. The severe, degenerative neurological condition is one of 170 genetic childhood dementia disorders that are progressive and devastating.
For Beau, his condition causes seizures, low muscle tone, a weakened immune system, and causes difficulty with swallowing, meaning he relies on a feeding tube to help meet his dietary needs. Since he was two months old, he has also been impacted by significant brain damage.
“Beau’s condition is so rare, meaning at the beginning of our journey, there were a lot of people who didn’t know about it. Even seasoned medical staff had never seen this condition in their medical career and may never again,” Nicole said.
“Explaining things repeatedly wasn’t very efficient and took an emotional toll, so we now have a multi-disciplinary meeting about Beau’s care every few months. This way, everyone stays informed and communicates together, making the care much more coordinated.”
Childhood dementia affects about one in 2900 births, with therapies effective in only five per cent of diagnosed individuals. Currently there is no cure, and the condition is life-limiting.
Professor Michelle Farrar, Paediatric Neurologist at Sydney Children’s Hospital, Randwick (SCH), is determined to drive research into childhood dementia forward with the hope of developing better treatments and outcomes for patients like Beau.
“Child dementia presents with the same symptoms as adult dementia, affecting memory, personality, behaviour, thinking, as well as abilities like eating, swallowing, emotions, communication, and social relationships. Yet despite these similarities, understanding remains limited,” said Prof. Farrar.
“Another reason for the lack of awareness is the enormous impact on families, making it rare to these children and their families in the community. Raising awareness is vital for enhancing care, support and outcomes for these families.”
In a new study published in the journal Brain, The collective burden of childhood dementia: a scoping review, Prof. Farrar and colleagues from the Childhood Dementia Initiative, the University of Adelaide, the University of New South Wales, Murdoch Children’s Research Institute and health economists conducted the first in-depth study of single gene childhood dementia conditions and their collective incidence.
“Our findings highlighted that using consistent language and definitions for these conditions will support efforts to bring about systemic changes in the treatment, care, and support for this vulnerable group of children and their families,” said Prof. Farrar.
With the support of Sydney Children’s Hospitals Foundation, the NeuroRUNWAY project at Sydney Children’s Hospitals Network is supporting clinicians like Prof. Farrar in their efforts to improve access to diagnostic innovations, precision therapies and clinical trials for children with neurological disorders, including childhood dementia.
“NeuroRUNWAY will develop and implement systems and processes to transform and streamline care for children with neurological disorders at SCHN. The project aims to increase the proportion of children with neurological disorders accessing diagnostic and therapeutic innovations from one to 10 per cent within five years and to lay foundations to increase the number of patients benefiting from research innovations,” said Prof Farrar.
Beau is currently being supported by a multidisciplinary team at SCH, as well as Bear Cottage, which provides respite care for Beau and his family. Nicole says this has also made a world of difference.
“I cannot even begin to explain how lucky we are to have Bear Cottage available to us. It’s like nothing I’ve ever experienced before, the care stands out and the staff there are on another level.”
Although Beau’s future is filled with many unknowns, Nicole is determined to provide her little boy with the best quality of life possible.
“Our only goal is to make him happy and help him enjoy this little life of his. I just want to keep him comfortable, go on adventures and give him new experiences, like visiting zoos and aquariums.”
“We recently ticked off a ‘Beau’s bucket list’ item, which was going on a beach holiday so that he could dip his toes in the water and soak up the sun. It’s these little things which mean the most.”