Edward’s Story - A smile that steals your heart

Edward Boyer is one of only 500 in the world to have been diagnosed with a rare condition called KIF1A-Associated Neurological Disorder (KAND).

KAND is a severe and rare neurodegenerative disorder caused by one or more variations in the KIF1A gene. This important gene produces a protein that is only expressed in brain cells and is critical for the transportation of important substances necessary for neuronal survival and brain function.

This condition has left Edward unable to walk, legally blind and facing a number of cognitive and behavioural challenges.

“When Edward was diagnosed with KAND in 2015, it was such a shock as he had previously been diagnosed with Cerebral Palsy. We thought we knew what to expect for the future of Edward’s life, but there is very little known about this disease,” said Edward’s mother, Catherine Boyer.

Life with KAND

Edward lives at home with his father Gary, mother Catherine, older sister Azalea and younger brother Oliver in Bendigo, Victoria.

“Edward is such a vibrant, energetic, super happy, funny, young man who has the most amazing blue eyes and the cutest little smile that will just steal your heart. He loves music and has an amazing ability to remember beats and words of songs, even after listening to the music once or twice,” said Catherine.

“However, this disease has reduced Edward’s ability to live life like his siblings and other kids his age.

Not knowing what the future holds is very difficult to comprehend, we have felt quite alone for some time, with no one to talk to, but finding a specialist that could help was like winning the lottery.”

Image: Edward Boyer with his family

Hope for treatment

Murdoch Children’s Research Institute is leading Australia’s first KAND research program in collaboration with national and international collaborators including KIF1A.org to accelerate research into KAND.

“KAND symptoms often appear at birth or early childhood, have varying severity and can result in early death. Because clinical features overlap with other neurological disorders, children can be misdiagnosed or remain undiagnosed for a long period of time,” said Murdoch Children’s Dr Simranpreet Kaur.

Image: Dr Simran Kaur (in the red blazer) with KIF1A patients and their families in 2023.

The team hope to develop effective treatments by understanding the biology behind KAND. This involves the use of stem cell-based models to find key processes in the cell that alters in response to the KIF1A genetic mutations.

“These advances will improve long-term health outcomes for this vulnerable group of children and may potentially offer unprecedented and life-changing opportunities for individuals and families affected by KAND and related disorders,” said Dr Kaur.

A trip of a lifetime

In August 2023, the Boyer family raised vital funds for a trip to the US to attend the KIF1A conference, where Murdoch Children’s presented alongside other world-leading researchers on their work in KAND.

“The connections we make in our little KIF1A community are so very special and Gary and I hold them very close to our hearts as these people are ‘our family’. Learning about the advancement in research and treatments was incredible…to know how far things have come and how bright and promising the future is, is exciting,” said Catherine.

While in the US, Edward also had the opportunity to visit Disneyland with his family.

“We took Edward to the happiest place on earth and to meet his best pal ‘Mickey Mouse’. Seeing Edward’s face light up when he first laid eyes on Mickey was just beautiful. I was so filled with joy for him that tears just started trickling down my face, it was the best feeling and the realisation that we made the right decision bringing him.”

Image: Edward Boyer with his family at Disneyland

Now having returned home to Bendigo, the Boyer family hope to continue raising awareness and funds for KAND and the critical need for targeted therapies.

“Supporting research will give us a chance to improve Edward’s quality of life, but just as importantly, cure future generations of children who are born with this disease so they can experience a better life,” said Edward’s father, Gary Boyer.

To support Murdoch Children’s KAND research, please visit our KIF1A fundraising page.