Fundraising and awareness page by William and Lara Camilleri .

Purpose 

Over the past year, Lara and I have been training to run a few races across Europe. We thought that we can use this platform to raise awareness of Usher syndrome and try raise some funds for Save Sight Now Europe that supports research for Usher Syndrome type 1B - you can read more about their cause here.

Our family and friends will know that Emma has been diagnosed with Usher syndrome, so this is a cause incredibly close to our hearts. All funds raised will go towards helping the development of life-changing therapies and treatment. 

The challenge 

We plan to do 3 runs, including the Rotterdam 10km, Utrecht 21km and the Lisbon marathon 42km. We are both new to running, so we will be working up to the marathon in Lisbon as the final challenge. I am a firm believer in: IT ALWAYS SEEMS IMPOSSIBLE TILL IT'S DONE. Never did we think we would run for more that 10km let alone a full marathon! Knowing that we will be raising awareness forUsherr syndrome will get us to the end. 

How can you help?

Please share this with your network. Donate and reach out if you can help in any other way!

Emma 

Baby Emma as I like to call her is the princess of our family. The only girl from 4 grandchildren so everyone can imagine how protected she will be when she grows up. No words can describe my godchild (I was both blessed and honored to be given the privilege to be Emma’s godfather a year ago). She is the most loving girl that always lights up the room with her contagious laugh and charisma. Both me and Lara always look forward to videos and pictures from Janelle ( Emma’s mother) on the family group and love to see the great progress she makes every day. She truly is a warrior! 

Emma of-course didn’t have the easiest start to life. The journey began when Emma failed her screening test for hearing at birth. Initially thought to be due to a benign issue , Emma had a repeat test a few weeks later which again she failed. Cut a long story short , Emma was diagnosed with severe bilateral sensorineural hearing loss. Further tests ( including genetic ) revealed that the cause of her hearing loss was due to a condition called Usher syndrome. A condition that affects hearing , vision and balance amongst other things. Emma underwent major surgery to implant cochlear implants at the tender age of 1. Since then Emma has been going to various therapies to help improve her motor and language skills. 

About Usher syndrome

Usher syndrome is a rare genetic disease that affects both hearing and vision. It causes deafness or hearing loss and an eye disease called retinitis pigmentosa (RP). Sometimes, it also causes problems with balance.

People who have Usher syndrome are born with it, but they usually get diagnosed as children or teenagers. There’s no cure for Usher syndrome, but treatments can help people manage their vision, hearing, and balance problems. 

There are 3 types of usher syndrome. Emma was diagnosed with type 1 which gives the following : 

·     Profound hearing loss (only able to hear very loud sounds) or deafness at birth

·     Loss of night vision by age 10, with severe vision loss by midlife

·     Balance problems, including trouble sitting up and walking

Approximately 5 in every 100,000 people are affected by Usher syndrome.