Ethan and Jasper holding a snake

Ethan’s Family Day

Anthony Pitch Ryers introducing family dayThe 24th of November 2018 saw the very first Norrie family day and what a fun day it was. The day involved many different activities and much entertainment, from snakes and snails to inspiring speeches.

I awoke with some trepidation as this was going to be the first ever live performance of the song I wrote for the Norrie Disease Foundation. My initial nerves however soon turned into excitement for the day ahead.

At approximately ten o’clock we hit the road, the car loaded with a large stack of musical gear. After about an hour and a half of speeding southwards, we arrived at the venue and walked into a buzzing atmosphere. The noise of excited chatter filled my ears as many of the Norrie community were meeting each other for the first time.

After lunch was served, a delicious meal consisting of chicken nuggets and chips for me, there was a wide range of activities and experiences to choose from. I attended the goalball session which I thoroughly enjoyed and also took part in the animal experience, in which I was able to hold snakes, snails, bunnies and guinea pigs as well as many other creatures.

Kids playing goalball

A particularly special part of the day for me was meeting Maria’s daughter. We had some very interesting conversations as well as some humorous ones.

The Thunderbolts live at the Norrie family fun dayAfter listening to the many amazing speeches that were given in the main hall, my brother and I performed the new song as well as some of our older works. Unfortunately, some technical difficulties arose with our equipment however I believe the songs we did play went very well.

After our live performance, this fantastic day was almost over and I was disappointed that this time had come to an end. On the return journey, I reflected on what a fantastic day it had been. I feel extremely privileged to have been a part of it. 

Ethan

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!

 

ND Awareness Week: What is ND and the ND Foundation?

Norrie Disease is a rare genetic condition causing blindness/severe visual impairment from birth, as well as many secondary conditions including progressive hearing loss. It affects mainly boys. NDF is in contact with 40 Norrie families in the UK.

Norrie Disease:

  •  typically leads to blindness at birth or severe sight impairment
  •   secondary symptom is progressive hearing loss
  •  approximately 30-50% of boys with Norrie disease have developmental delay, learning
    disability or behavioural issues
  •  also associated with short stature, delayed or arrested puberty, and sexual dysfunction

During and after diagnosis, families will see a huge array of professionals. Patients told Rare Disease UK that one of the hardest things about having a rare condition is that often their doctor may not have much information about the condition.

Many families want information about how Norrie Disease will affect them in the future, what treatments are available, and information and support on how best to live with and manage their symptoms. We are working with the charity Unique to develop a plain language information sheet for families.

In 2015 Professor Maria Bitner-Bitner-Glindzicz met a set of parents at a UCL Reception after an evening research seminar. Maria was a geneticist with a specialist interest in childhood deafness. The parents had a young boy with Norrie disease. Maria was aware of Norrie disease but hadn’t met anyone with the condition. She listened to the parents as they shared their experience of living with Norrie disease and their concerns about their son losing his hearing as well as being blind. Maria said she couldn’t imagine the loneliness and isolation of living with a condition when you haven’t met other parents who are in the same position and expressed sympathy and compassion over the prospect of a blindness condition progressing to dual sensory loss with the progressive hearing loss and how devastating that is for families. The parents asked Maria if she could help with saving the progressive hearing loss that affected the blind community and she replied ‘I’d like to help, but I’m not quite sure how to. Let me think’. Maria was the first researcher in the UK to say that she wanted to help with the Norrie hearing loss.

In early 2016 after much thought and investigation Professor Maria Bitner-Glindzicz said she felt she would be able to help research into the Norrie hearing loss and that she wanted to help set up a support group in the UK dedicated to helping provide information and support to families in the UK living with Norrie disease.

During 2016 and onwards Maria went out of her way to help a group of 3 parents set up a support group; she connected the group to contacts in the medical world and the rare disease community, answered queries, and solved problems and found solutions to the multiple hurdles that kept emerging. When confidence wavered and things seemed less than achievable Maria would come forward with help and support and encouragement. Maria would email well into the late evening, join phone calls, set up meetings, look at materials that we were producing, helped with funding applications, everything – Maria helped at every level. It was very clear that more than just wanting to find a treatment for the hearing loss, Maria wanted to learn more and understand how to support the Norrie community. Maria said ‘it must be so difficult when you realise after the birth of your child that you’re not in the same boat as your friends’.

Why is the NDF so important to the families affected by Norrie Disease? Our ambassador Simon Reeve explains:
“Meeting Josh through The Big Life Fix drove home how difficult life is for children affected
by Norrie disease. There are huge obstacles in the way of many of those everyday things we
take for granted for our children. Having an organisation like the NDF to raise awareness of
these challenges and to provide vital support can make all the difference to the children and
families affected.”

Professor Maria Bitner-Glindzicz helped organise the launch of the Norrie Disease Foundation which took place in May 2017 and was held at University College London Great Ormond street Institute of Child Health. The launch was attended by families from across the UK and the NDF Medical Advisory Board. Maria opened the event with a speech about the importance of bringing families affected by a rare disease together so that they could hear and share experiences and offer support to each other. Maria was a huge driving force behind bringing medical professionals out of their clinical settings to meet Norrie families as she felt families would gain so much from being able to share their experiences and concerns in confidence and in a more neutral setting. She spoke about her hopes for finding a cure for the hearing loss. The launch lasted for 3 hours and Maria spent most of that time speaking with families, keen to learn about what really mattered to them and what would help them and how she could help them.

Run for team NDF in 2019

Do you want to run and raise funds for the Norrie Disease Foundation?

We have secured charity places at the 2019 Brighton and London marathons and the Bath Half marathon. All are iconic events on the running calendar which sell out every year.

100% of funds raised will go towards a Family Fun Day to provide a safe and fun environment and peer support for all members of the family affected by Norrie disease.  All runners will receive a NDF running vest, and support and advice on training and raising sponsorship.

Contact kellyrobinson@norriedisease.org.uk for information.

Please note the deadlines to apply for places:

  • London Marathon – Friday 19th October 2018
  • Bath Half marathon – Friday 18th January 2019
  • Brighton Marathon – Friday 1 February 2019

Do you already have a place at an event and wish to join Team NDF? Please get in touch with Kelly

Professor Maria Bitner-Glindzicz

Prof Maria Bitner-Glindzicz

The Norrie Disease Foundation and its Medical Advisory Board are devastated to share the sad news of Professor Maria Bitner-Glindzicz’s passing. Maria was a dear friend to the Norrie community and a brilliant geneticist and researcher. She was the driving force behind the creation of the Norrie Disease Foundation, the formation of its Medical Advisory Board and the pioneering research she initiated into the Norrie Disease hearing loss to see if it can be treated with gene therapy. The Norrie Disease Foundation wouldn’t be where it is today without all her incredible support.

Maria went out of her way to meet and listen with families to see how she could help them; she was our champion and committed advocate. Maria took a personal interest in all of the families she came across and went to great lengths to help each and every one of them. For a researcher to agree to help such a rare community was incredibly precious. Maria will be so missed by the Norrie community and throughout the genetic and hearing world. She was one in a million. Our thoughts are with her family and friends at this sad time.