Louis was born profoundly deaf and with a vestibular disorder. His diagnosis with Usher Syndrome type 1b when he was three and a half means that he will develop retinitis pigmentosa and have vision loss within the first decade of his life.
Usher Syndrome effects 1 in 100,000 people. Louis has type 1B which effects 20% of those with Usher Syndrome. In Australia it is estimated there is less than 150 people with the same condition as Louis.
With Louis’ initial diagnosis of deafness and his most recent diagnosis of Usher Syndrome Emily and Dave’s response has been to:
- give Louis access to best possible therapies available
- ensure Louis is well educated to maximize his opportunities
- give Louis the best life experiences they can
- support medical research into therapies that Louis and others may benefit from
- share their knowledge and experiences so that others can learn more about his condition
- support others with Usher Syndrome
The diagnosis of Usher Syndrome is a really significant one for Louis. While he, like most early recipients of cochlear implants, will have close to age appropriate speech by age four or five, he will continue to have significant challenges keeping up with his peers. In a mainstream school environment hearing the teacher will always be a challenge even with the advantages of cochlear implants and fm systems. And then add to that a vision loss and you start to understand why over 80% of adults with Usher Syndrome are unemployed.
International Symposium on Usher Syndrome - Boston July 2014
The 4th International Symposium on Usher Syndrome was held in Boston in July 2014. The event is held every four years and brings together medical experts, sufferers and family of sufferers from all over the world for a three day conference on everything happening in relation to living with and improving the life opportunities for those with Usher Syndrome. The Symposium is run by the The Coalition for Usher Syndrome Research; a non-profit organisation dedicated to helping families cope with Usher Syndrome while working diligently to find a cure. Emily and Dave were able to travel to Boston to be a part of the conference and learnt about the latest medical research being conducted around the world and made connections with other families and specialist. For more information, go to www.usher-syndrome.org
Potential treatments and research
There is no cure for Usher Syndrome. Research is currently taking place in the following areas:
There are a number of gene therapy trials to treat vision loss being undertaken around the world. Of particular interest is UshStat®; a gene-based therapy for the treatment of Usher syndrome type 1B by Oxford BioMedica. For more information, go to
www.oxfordbiomedica.co.uk. Currently there is nothing definitive that stops the onset of retinitis pigmentosa but there is hope that research in this field will be successful.
- Bionic Eye
Bionic Vision Australia is developing a bionic eye to restore vision to people with retinitis pigmentosa. They are testing an early prototype with 24 electrodes in three people. They are also developing a device with 1024 electrodes. For more information, please visit www.bionicvision.org.au
- Cochlear implants
A cochlear implant is a surgically implanted electronic device that provides a sense of sound to a person who is profoundly deaf. The quality of sound is different from natural hearing, with less sound information being received and processed by the brain. However, many patients are able to hear and understand speech and environmental sounds. Louis received bilateral cochlear implants before his first birthday. Louis currently has the Nucleus® 5 sound processor. In November 2013, Cochlear Ltd released the Nucleus® 6 which provides a number of improvements like a music program, an auto link to phones and water resistance. More information can be found at www.cochlear.com