Exciting Research News For The Norrie Community

 

Professor Maria Bitner-Glindzicz

Amina Al-Yassin

 

 

 

 

 

 

 

 

 

 

 

The Norrie Disease Foundation are very pleased to announce that Professor Maria Bitner-Glindzicz from Great Ormond Street Hospital has been successful in her application for funding for a research grant into the Norrie hearing loss from Newlife and from Sparks, The Children’s Medical Charity. Maria is a clinical geneticist based at the Great Ormond Street Institute of Child Health and also sits on the Norrie Disease Foundation’s, Scientific Medical Advisory Board. Maria has a special interest in genetic causes of deafness in children and adults. The research is a laboratory study on hearing loss in Norrie disease and whether this can be treated. Funding from Newlife for a PhD student will start in October 2017 and last for 3 years. We will post more information on the research project in our research section as it becomes available.

On another note, the Norrie Disease Foundation are delighted to introduce  Amina Al-Yassin. Amina is a paediatric trainee working in London. Amina will be working with Professor Maria Bitner-Glindzicz at Great Ormond Street Hospital to try and understand more about the characteristics of Norrie disease in families. Amina hopes to talk to, and hopefully meet, as many people and families as possible so that the team at Great Ormond Street Hospital can try to build up a really good idea of the health issues experienced by people with Norrie as well as their journeys in the healthcare system.

One of the reasons for this research, is that if treatments for some of the complications of Norrie become available in the future, researchers need to know who to treat (everyone or just some people?), when to treat (before too much damage has been done) and how to tell if treatment has worked or not (the person might have fewer complications or a less severe medical problem than might be expected for a person of their age with Norrie). This is called a ‘natural history study’ which means a study of what normally happens over time in a particular medical condition and we need to have this information if we want to offer new treatments.

If you are interested in taking part or want to find out more please email Amina amina.al-yassin@nhs.net

Familes met on Sunday 26th February 2017

David Wilkins – Mentor

David Wilkins has joined us as an NDF Mentor. David has Norrie Disease and says ‘Even I still can’t quite believe it!’ David is blind with no light perception at all, partially deaf with hearing aids in both ears and dyslexic. David says ‘I am disabled, and it is thanks to Norrie that I am disabled. But there is no reason why Norrie should hold you back. Indeed it will only hold you back if you allow it too.’

David says that ‘It is thanks to my parents I have gone from strength to strength in my life. I’ve done a 12000 foot parachute jump from a plane (not solo), I’ve sailed the high seas on a tall ship for the disabled which involved climbing the mast right to the top and getting absolutely drenched more times than I care to remember.’

David has been encouraged to follow the dreams he has as much as he can. He lives alone in a house of his own. He needs help with cleaning and looking after it, but he cooks, washes and looks after himself. David has also worked In South Africa, Lincoln and Guernsey as a journalist whilst pursuing his ultimate goal of being the BBC’s foreign correspondent in the city of Jerusalem (this hasn’t happened yet) and he continues to seek adventure wherever he can find it.

David says of his Mentoring role ‘I am offering to be a Mentor for the NDF because I believe and know that you can dream the undreamable, but this is no good unless you can see it happening in front of you. Maybe your dream is bigger than mine, or maybe you just want to make a cup of tea without any help, cross the road on your own, live alone one day and have a family. Maybe you are a parent on this group and you want to know whether your child can succeed, and what help they need from you. Maybe you’ve been told so many times what you cannot do or what your child cannot do that you’re finding it hard to decide what you can do for yourself. I’m here to help you along. If you’ve grown up or are growing up with Norrie I will get in touch with you, talk to you, encourage you and meet up with you. Maybe see if we can set some achievable goals, starting small and getting bigger as we go along.’

David’s vision for the next year is:

  • To give parents of Norrie children and those living with Norrie disease some pointers based on what helped him when he was growing up
  • To be there for those who would just like someone to talk to either over Skype, email, facebook or phone
  • To have and share some fun amongst the Norrie community – could be meeting up, sharing stories and jokes
  • To listen to what other members of the Norrie community have to say
  • To spread self-belief amongst the Norrie community

You can email David on davidwilkins@norriedisease.org.uk

The Norrie Disease Foundation Launches

Saturday 13th May saw the culmination of a year’s hard work and preparation as the Norrie Disease Foundation launched at University College London, Great Ormond Street, Institute of Child Health.

Around 70 guests gathered to celebrate the start of what promises to be an exciting journey for the Norrie Disease Foundation – a strengthening of the Norrie network and the promotion of vital new research into the condition.

The launch was opened by Professor Maria Bitner-Glindzicz, a clinical and molecular geneticist, with a special interest in deafness, from UCL Great Ormond Street Institute of Child Health. The Norrie community’s Ethan Peacock, aged 12, took to the stage to formally launch the foundation and shared a few words about what it means to him to have the Norrie Disease Foundation up and running. “The Norrie Disease Foundation gives me the chance to get to know others who share in this condition. I am looking forward to connecting with some of the older Norrie community and being able to ask the questions. And in turn pass on my experience to the younger members of the community”. You can listen to all of Ethan’s speech by clicking on this link and there is also a text link to his speech.

Norrie Families Meet

On Sunday 26th, February, 2017, families from the Norrie community travelled from Liverpool, Cardiff, Essex and London to meet at the Southbank in London.

This was the second time that Norrie families had got together in the UK – a fantastic opportunity for families who have something very special in common to meet.

Our Norrie boys ranged in age from 2 years to 11 years. Their siblings also came along to join in the fun. For some, it was the first time they had met other Norrie families.

A few of the older boys tackled an enormous climbing frame before everyone headed off to the Festival Hall for some lunch, after which there were games of dominoes and cards.

A really lovely day, with some sleepy bunnies at the end! We are already looking forward to our next Norrie family get together.