The Norrie Disease Association – Bringing the global Norrie community closer

NDA conference guestsThe Norrie Disease Association held its 4th conference 9th-11th August at the Massachusetts Eye and Ear Hospital, Boston 2018.

It was an amazing coming together for around 26 families from the US, Canada, Belgium, UK, Argentina. The community spirit was really strong – some families were meeting for the first time and others were re-uniting but all families made the most of every minute.

Dr Amina Al-Yassin from University College London Great Ormond Street Hospital and Wendy Horrobin, NDF Chair and Coordinator were fortunate enough to attend the conference to meet families and learn about the Norrie Disease Association’s progress in supporting the global Norrie community through developing relationships in the research world and strengthening the Norrie disease network. The conference was also a great opportunity to share news from the UK Norrie community and to explore ways of collaboration between the Norrie Disease Association and the Norrie Disease Foundation.

The conference started with a tour of the fantastic Perkins School for the Blind – a truly inspirational establishment. Families enjoyed hearing about the history of the school and a hands on experience of all the amazing adapted models including a gigantic globe which Helen Keller used and a large model of the Pantheon which you could take the roof off and explore inside feeling all the intricacies of the columns and structure.

Feeling enthused by the tour and uplifted by the amazing ‘can do and will do’ inclusive ethos at the Perkins School families all congregated at  a nearby park for food and a braille trail and the icing on the cake – an ice cream van! In the evening families had a wonderful time meeting each other over some delicious food  – there was much laughter and excitement all around. Children played together,  a spinning chair got lots of attention – from one Dad in particular (!) but this chair actually served a very important purpose of stimulating a blind child’s need to spin and move safely (there was definitely one chair ordered following the evening’s demonstration!).

Dr-Florian-Eichler-Director-of-the-Center-for-Rare-Neurological-Diseases-at-Massachusetts-General-HospitalThe Norrie Disease Association did a fantastic job of finding excellent speakers and presentations for the conference – finding the balance between information; techniques in gene therapy, behaviour management; research and hearing aids – all very positive and generating much thought and conversation and recommendations between families.

The first full day of the conference opened with an uplifting speech from John Miller, NDA President who shared their progress and passion to support the global Norrie community followed by  an inspirational presentation by the keynote speaker,  Michael Forzano, Accessibility Software Engineer at Amazon. The following days’ presentations included  Professor David Corey, Bertarelli Professor of Translational Medical Science at Harvard Medical School; Dr Florian Eichler, Director of the Center for Rare Neurological Diseases at Massachusetts General Hospital; Dr Antonio Capone Jr, an internationally recognized clinician, surgeon and educator specializing in retinal issues that present with Norrie disease; Dr Amina Al-Yassin,  Clinical Fellow in Genetics at Great Ormond Street Hospital for Children in London who presented findings from the Family History Study conducted in the UK of 22 Norrie families.

It was uplifting and hugely positive for the Norrie community to see medical professionals coming together to explore ways of moving forwards to benefit the global Norrie community. There were also brilliant presentations by Kurt Jahrling, Board Certified Ocularist; Matt Edwards, analyst in the Early Learning Center and Lowe School Programme at Perkins School for the Blind; Darcy Repucci, a licensed audiologist who recently decided to open her own private practice in Hopkinton, a community that she grew up in and Fernando Albertorio, Co-founder of SUNU, a legally blind technologist, serial entrepreneur and advocate for persons with disabilities. All of these presentations are available on the Norrie Disease Association website.

The three days flew by far too fast but the conference was a huge success. Bringing together Norrie families from around the world to offer support, information, develop and strengthen research connections and build friendships is a precious and life-changing event – well done to the Norrie Disease Association. Looking forward to the next one already!