Please meet Edward
A 13 year old amazing young man who was born with a rare neurological degenerative condition called Kif1a.
When Edward was just a baby he had attachment issues to feeding and I noticed his eyes would roll back, he wasn’t meeting his milestones from and early age and I just knew there was something there that needed attention.
After many years of tests and investigations Edward was diagnosed with KiF1a in 2015. Edward was the first diagnosed in Australia.
We were advised that there wasn’t much known about the disease and I was given a 6 page research document and sent on my way.
It was devastating- a disease that you couldn’t even research yourself on the web, nothing not even a mention on any site for many years we were alone.
We had no idea what we were dealing with then and in some case still don’t know what the future holds for Edward.
Edward is a bright beautiful happy young man with an infectious laugh and zest for life.
The Kif1a gene mutation is a debilitating disease that has taken so much from him in such a short amount of time. The name degenerative says it all – meaning it will deteriorate and sometimes rapidly, in some variants of this disease it can rob kids of their lives at a very early age.
Edward is unable to walk, has optic nerve atrophy (legally blind), it affects his cognitive ability, processing delays, Neuropathy causing the loss of blood flow to his lower limbs, behavioral challenges brought on from frustration of not being able to do things, and absent seizures.
Edward gets a lot of joy out of going for long walks and exploring his local area looking at houses being built, he build his own castles with his Magnet Tiles and is always eager to show us his achievements.
He enjoys watching you tube, The wiggles, Mickey Mouse club house and Sooty and sweep show just to name a few.
Spending time with his younger brother Oliver is joyful but Edward is quick to tell Oliver when he wants his space.
The research here is Australia has come along way over the years this gives us a lot of hope for a treatment and /or cure one day for this debilitating disease not just for Edward but for all the kids with Kif1a.
Catherine and Gary
Edward biggest fans