Rare Disease Day raises awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. Our blog this year features the inspiring story of Harry, an 8-year-old boy living with Usher syndrome, and the life-changing work of his family looking to change the course of genetic disease.
We live in an age where we are unlocking some of the secrets of our genomic code, beginning to understand that we have coded sequences that are sometimes optimal, sometimes not – because of the pre-programmed pattern we follow or because of an unexplained genetic change which occurred inexplicably just for us.
Discovery can bring hope and possibility; understanding and knowledge; fear and despair. Lack of diagnosis can bring frustration and isolation. Diagnosis of a genetic condition challenges and ignites deep and intimate beliefs and questions about ourselves, those who came before us and those who come after.
The path to discovery starts with one story
Harry Feller is a perfectly normal eight-year-old boy, he is happy, he loves his Minecraft, his dragons and his many friends.
However, my son suffers from Usher Syndrome Type 1F, an ultra-rare genetic condition inherited from myself and my wife Hollie. We will have had these recessive genes in our bloodlines for centuries without knowing a thing. Two parents both having the recessive gene is rare enough but then they have a one in four chance of activating the syndrome in a baby.
We are talking lottery numbers of chance here.
Usher Syndrome comes in many forms and affects many separate genes depending on that form but Usher Syndrome Type 1 results in babies being born completely deaf. With the modern miracle that is the Cochlear Implant, the deafness is treated perfectly well with my son now eight and a half years old and just into year Three at Primary School here in Melbourne. He is an eight-year-old, completely normal of hearing and speech, happy and a very funny and sweet little boy with lots of little friends.
The tragedy of Usher Syndrome is that he will lose his sight gradually from around 10 years of age to the point where he will have tunnel vision in his late teens. There is no treatment or cure as yet however with the world of genetics, CRISPR, Genome Editing and stem cell research evolving at a break-neck speed, we are much more than hopeful that not only will science have cured ‘deafness’ (forgive the extremes of this but that is how Hollie, our daughters Tess and Alice and I see it thanks to the Cochlear Implant) but that very soon we can and will be at the epicentre for cures of many forms of blindness globally.
This is far from a sad story, moreover, it is a tremendously positive story at a time when the world needs this; a story of scientists, clinicians, and families coming together with the world over to research, learn and cure Usher Syndrome. We are all galvanized by Harry and saving his sight. If treatments being worked on now can affect the eye positively as a first organ to reap the rewards from genetic medicine then scores of millions worldwide will be positively affected in the near future.
It’s only that Harry will be one of the first but we have no problem with that!!
Creating treatments for rare diseases
We are working closely with the Centre for Eye Research Australia and the Universities of Melbourne, Tasmania, Iowa, Oregon, Baltimore and Harvard (just to name drop a few!) to develop genetic treatments for Usher Syndrome and sight loss which are advancing very well and rapidly. We know the gene which causes Harry’s imminent loss of sight (known as PCDH15, ‘protocadherin 15’) and our friends and colleagues at the CERA have been working on Harry’s stem cells for well over two years now in Melbourne.
Developments as I say are progressing so fast, it is a privilege to be part of.
Our research charity Genetic Cures Australia was set up in 2016 with the following Mission Statement:-
‘We find ourselves approaching the final mile of research and development into genetic editing that will halt the progress of a wide series of rare inherited eye conditions. Melbourne has been the centre of global research into syndromic causes of inherited diseases and now we have the opportunity to halt and eventually cure the most debilitating of all conditions, gradual blindness.
All approaches seeking funding and sponsorship to be made by Genetic Cures Australia shall focus on how we may be on the cusp of one of the most significant medical breakthroughs in history.’
Please have a look at our site here – www.geneticcures.com.au
In early February US$450,000 of new funding dedicated to finding a cure for Usher Syndrome, was awarded to the Usher 1F Collaborative in Boston from the Chan Zuckerberg Initiative
The grant is part of CZI’s Rare As One Project aimed at supporting patient communities by accelerating research and drive progress in the fight against rare diseases.
This generous grant is part of a swell of activity with Usher 1F research we are seeing this year, the magnet that the grant from the Chan Zuckerberg Initiative will give us all in our ‘corner of the genetic playground of research’ is immense and we firmly believe that world-leading scientists and those on the coal face of genetic research for many diseases will be drawn to Usher Syndrome research quickly as a result.
The end of the bad story happened soon after Harry’s diagnosis in 2014, since then we have all engaged and steadily built this solid path towards world-first treatments for the eye. This is a tremendously positive time.