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Meet the USH SIG team
Coordinator of RI USH SIG – Retina International Usher Special Interest Group –Mrs. Dominique Sturz, Patient Advocate Usher Syndrome & Rare Eye Diseases
When I was following a career as interpreter and translator for German-French-English and as a business trainer for team and project management and organisation development as a mother of two children, my youngest daughter born in 1996 was diagnosed with congenital deafness at age 1. From then, I dedicated my time and energy in providing her with bilateral Cochlear Implants (age 18 months and almost 3 years) and in her speech development and school career in mainstream school. She became a pioneer in early bilateral implantation and is a happy student now. I became a patient representative in the Austrian Cochlear Implant Society (CIA) and in the European Association of Cochlear Implant Users (Euro-CIU).
When her RP was detected and she was clinically diagnosed with Usher Syndrome at age 9 in 2005, I dedicated myself to learning as much as I could about the disease mechanisms and therapy development and developed relationships and a strong network of patient groups, clinicians and researchers all over Europe and the US (via Pro Retina, Retina International, Leben mit Usher Syndrom, Usher Syndrome Coalition, Foundation Fighting Blindness, …).
In 2012 her diagnoses USH1b was genetically confirmed (after a long struggle with Austrian Health Care System) and from then I have been building a strong Rare Eye Disease Community and connecting all relevant stakeholders.
Since 2014 I have been developing the Austrian Usher Initiative, initiated and co-founded the Austrian Usher Deafblind Forum in June 2016, an organisation focussing on deaf blindness and disability advocacy, and was their vice-president until November 2017. After years of intense preparation and building the organisation I decided to dedicate myself more to Rare (Eye) Disease policy.
I have been educating Austrian clinicians about Usher Syndrome and international therapy options and clinical trials and connecting them to patients. I also have been building interdisciplinary cooperation of ENT/Eye/Genetic units at University Medical Centres in Austria in order to establish early Usher diagnostics and adequate Patient Management.
I am also board member of Pro Rare Austria and have been involved in Rare Disease Policy interacting with Health Policy stakeholders in Austria and Europe. In March 2017 I joined the European Reference Network for Rare Eye Diseases as a member of the European Patient Advocates Group (ePAG ERN-Eye) and since December 2018, I have been coordinating the establishment of the the RI USH SIG. All this with the aim to make early diagnostics through genetic testing and case management, therapeutic innovation and treatments available to individuals with Usher Syndrome and related Eye Diseases and to make a difference in their (and their families’) lives.
I am based in Vienna, Austria.
Carol Brill
Carol Brill lives in Dublin, Ireland with her young daughter. Since her diagnosis of Usher syndrome, she threw herself into the search for a treatment or cure for this disease. She has since accumulated a wealth of experience of working with many national and international charities and patient-led organisations for nearly 30 years. These organisations include Fighting Blindness, Ann Sullivan Foundation, EUSN, DeafBlind International and Retina International.
Currently, Carol is a Trustee and Director of Scientific Research for CUREUsher, a UK based charity dedicated specifically to raising funds and awareness of Usher Syndrome with the aim of increasing collaboration and research for a cure or treatment, as well as empowering all those living with Usher Syndrome. Carol has learned and continues to learn so much as she works in different areas with the primary aim of promoting awareness of Usher Syndrome, and doing everything possible to enhance the quality of life for those living with Usher Syndrome. Harnessing her skills, experience and passion for advocacy, Carol is committed to her role as member of Retina International’s Usher Syndrome Special Interest Group.
In her spare time, Carol loves to play with Irish Blind Golf, and she is currently the Irish Blind Open Ladies Champion and the British Blind Open Ladies Champion. She is also Secretary of Irish Blind Golf.
Melissa Chaikof
Melissa Chaikof is the President of Usher 1F Collaborative, a US-based 501c3 nonprofit foundation whose mission is to fund medical research to find an effective treatment to save or restore the vision of those with Usher Syndrome type 1F. Since its founding in 2013, Usher 1F Collaborative has funded research in five academic laboratories for a total of close to $2 million and partnered with a lab at Harvard that has raised $1.2 million in additional funding for Usher 1F research. Two of Melissa’s three adult children have Usher 1F.
Melissa is a current Science Committee member and past board member of the Usher Syndrome Coalition, as well as past board member of the Gift of Hearing Foundation, Cochlear Implant Association, Inc. (CIAI), The Auditory-Verbal Center of Atlanta, and served as contributor and associate editor for Contact, the publication of CIAI, for six years. She was also a contributing author on the topic of “English Language Acquisition of Children with Cochlear Implants” for the book written by Tom Bertling entitled Communicating with Deaf Children.
Melissa has worked as Donor Research Analyst since 2002 for Nonprofit Leadership (NPL), LLC. Prior to her work at NPL, Melissa worked as Outreach Coordinator for the Auditory-Verbal Center of Atlanta and as a systems analyst at the MITRE Corporation in Bedford, MA. Melissa holds a M.S. in Engineering from Johns Hopkins University and a B.A. from the University of Pennsylvania in applied math. She lives in Boston, MA.
Dario Sorgato
Dario Sorgato was born in Italy in 1978. He grew up in Padua and moved to Milan to study Design. At the age of 16 he was diagnosed with Usher Syndrome, a rare degenerative disease that leads to deafblindness.
After graduation he undertook several travels, seeking for new challenges and determined not to get stop by sensory limitations. In 2004 he spent one year in Australia and New Zealand, in 2007 he completed the Camino de Santiago. In 2008 he joined the crew of the Research Vessel Heraclitus and sailed for nearly two years from Cape Town to Havana, first crossing the South Atlantic Ocean and then navigating along the coast of Brazil and the island of Caribbean Sea. He collected his adventures and emotions in the books “One Year in Eight hours”, “Slow Time” and “Water. A journey” promoted and distributed in several Italian cities with readings shows.
In 2011 he founded NoisyVision, a project later turned into a Non-Profit Organization to raise awareness about sensory disabilities and promote activities for people with visual and/or hearing impairments.
With NoisyVision he organized European workshops and outdoor activities, mostly related to mountain trekking. The awareness campaign #YellowTheWorld, initiated in Helsinki in 2014, became the motivation to reach Everest Base Camp, Mount Etna central craters, Icelandic volcanoes.
Trough the websites and social media of NoisyVision he contributes to inform about Usher Syndrome, inclusion, accessibility, self esteem, acceptance, mostly trying to share a positive attitude and the belief that limits can be turned into a resource, a potential.