Norrie families meeting at Southbank

NDF’s 4th Family Day

Norrie boys at Southbank

8 members of our Norrie community ranging from 14 months upwards.

On Saturday 24th February the Norrie Disease Foundation enjoyed its 4th Family Day. It was a great way to have an early celebration for Rare Disease Day which took place on February 28th.

Families came together at London’s Southbank and it was fantastic to welcome back families we had met before and new families. The day flew by with much laughter, conversation, even some poetry and exchanging of experiences and life stories – everything so precious about bringing a rare disease community together.

Thank you so much to the families that could make the trek and staff from GOSH and the Greenwich Sensory Team who came to say hello.

We really missed the families who couldn’t make it but we are looking forward our next meet up already and especially looking forward to being able to sponsor some family days in 2019.

Simon Reeve becomes NDF first Ambassador

Simon ReeveNDF is so happy to share the news that author and presenter, Simon Reeve, has become their first Ambassador. Simon worked on the Big Life Fix with Josh, who has Norrie disease, where he to got understand the difficulties that visually impaired children experience in everyday life. Please follow the link below for more information.

 

PRESS RELEASE

Norrie Disease Foundation announces first Ambassador

The Norrie Disease Foundation (NDF) has recruited Simon Reeve as its first Ambassador to help raise awareness of the rare disease which results in male children being born severely visually impaired.

While presenting The Big Life Fix for BBC Children in Need, Simon Reeve met Josh who has Norrie Disease and was born blind and heard first-hand how difficult Josh finds it to cope with the school playground. The ‘fix’ was an especially adapted play facility that incorporated guidance paving or ‘braille for feet’ that gave Josh the confidence to play with other children.

Norrie disease mainly affects boys and is a rare X-linked genetic condition that causes blindness or severe sight impairment at birth. A secondary symptom that can begin in early childhood is the loss of hearing, with hearing aids or implants prescribed over time. Other symptoms can include autism, cognitive impairment and delayed development.

With Simon Reeve’s support, the charity hopes to raise awareness of the challenges faced by children with Norrie disease and highlight the important role play facilities have on ensuring visually impaired children are able to socialise with their peers.

Simon Reeve, Norrie Disease Foundation Ambassador said: “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 Norrie Disease Foundation to raise awareness of these challenges and to provide vital support can make all the difference to the children and families affected. I’m happy to be able to support a worthwhile charity.”

Wendy Horrobin, Chair of the NDF and mother to Josh, age 8 with Norrie disease, said: “We are delighted Simon agreed to become an Ambassador. Simon will be instrumental in helping us to promote the charity and be there to support more families affected by Norrie disease.”

Set up to support the UK community affected by Norrie disease and to secure research funding, the charity has already been successful in applying for a research grant into the Norrie hearing loss from Newlife and from Sparks, The Children’s Medical Charity.

The charity was launched with funding from Jeans for Genes Day.

To volunteer, donate or simply find out more, contact www.norriedisease.org.uk

 

 

Investigating Norrin in the Laboratory

November’s Norrie Disease Research Update at UCL GOSH

by Dale Bryant, 30th November 2017.

Norrie disease is caused by mutations in the NDP gene. The NDP gene provides the instructions for making a protein called Norrin. When there is a problem with these instructions, Norrin is not made correctly so it is unable to carry out its job. To monitor Norrin in the laboratory, we use antibodies that have been specifically made to bind to Norrin. With additional tools we are able to observe these antibodies and use this information to investigate Norrin protein.

This month, we have been testing different antibodies to see which one is best at detecting Norrin in our samples. This is because some antibodies are better than others and we want to use the best one in our experiments. Certain antibodies also require specific conditions to be effective. Therefore, we have also tried different methods to see which one provides the clearest results.

We will use the observations of these studies to monitor Norrin in future experiments. Each genetic mutation that causes Norrie disease may disrupt the instructions for making Norrin in its own way. Therefore, understanding how the Norrin protein has been disrupted by these mutations is an important part of many experiments that we do.

Diagram of the antibodies that bind to the Norrin protein

Wendy receiving her certificate for completing Findacure’s Peer Mentoring programme

Celebrating ​​our journey on Findacure’s Peer Mentoring Programme

The NDF were thrilled to be offered a place on Findacure’s year-long Peer Mentoring Programme to help get us off the ground. We started the Peer Mentoring in September 2016 and have just attended the Closing event in September 2017. We thought it was time to share our journey so far with you all and no better way to do it than to celebrate our time on Findacure’s Peer Mentoring Programme.
Here’s a short a presentation of our journey since the beginning:
We are really thankful to Findaure and our mentor Dr Kamlesh Sheth for the amazing experience we have had during this year – we have learnt so much and come so far!
Findacure
The Find a cure logo
Kamlesh

Dr Kamlesh Sheth

Wendy receiving her peer mentoring certificate

Wendy Horrobin and Dr Rick Thompson

Participants at the peer mentoring closing event

Norrie families having coffee

Birmingham Norrie Family Day

Sunday 29th October saw the 3rd Norrie family meet in the city of Birmingham.

Families travelled from Bristol, Essex, Kent, London, York and Leicester to meet each other. We had intended to go to the park but once we all got talking there was no stopping and the time flew by as we shared a huge table in the corner of a coffee shop.

Seven Norrie families made it to the gathering. It was a wonderful opportunity for the community which ranged in age from 19 months to 34 years to get to know each other and share their experiences of living with Norrie disease and what has and hasn’t worked for them. Ed who is new to the community gave an inspirational speech about his life and his approach to living with Norrie disease. We are happy to say that Ed is also going to join our team of mentors and you can read more about him on our upcoming peer mentoring page.

We are now already looking forward to our next Norrie family meet.
Norrie families having coffee Norrie families meeting Norrie families meeting A norrie family A Norrie family and their guide dog People at the 3rd Norrie family day