Families: Babies to thirty-something

Norrie Family Meet

The Norrie Disease Foundation held its first funded Norrie family meet on Saturday 29th June thanks to an amazing grant from @jeans_for_genes & @geneticdisordersuk.

Fifteen families met in London and enjoyed soft play; mingling; bouncy castle; trampolining and meeting new and old friends.

Families also had an opportunity to speak to Dr Kaukab Rajput from Great Ormond Street Hospital and listened to an inspirational speech by David Wilkins ahead of his new career as a motivational speaker.

Thank you to the families who braved the heatwave to join us! Looking forward to the next one already! Well done Kelly Leggett for organising!

Families: Babies to thirty-something

Group photo of families ranging from babies to thirty-something!

Karim and Theo playing boppit

Karim and Theo playing boppit

Ethan enjoying fish and chips

Ethan enjoying fish and chips

David giving a speech

NDF Ambassador David Wilkins giving an inspirational speech ahead of
his new career as a motivational speaker

Families speaking to Dr Kaukab Rajput

Families speaking to Dr Kaukab Rajput

Zander enjoying soft play

Zander enjoying soft play

New research partnership

The Norrie Disease Foundation are very excited to announce their new research partnership with Sparks and Great Ormond St Hospital Children’s Charity national funding call to improve the treatment or quality of life of patients with Norrie disease, particularly focusing on the Norrie disease progressive hearing loss.
Child health research is significantly underfunded, with only 5% of UK research funding spent on projects relating to child health. Sparks and Great Ormond Street Hospital Children’s Charity (GOSHCC) fund groundbreaking research into a wide range of conditions. The pioneering projects it supports are carried out at leading hospitals and universities throughout the UK and continue to make a significant contribution to breakthroughs and new treatments being used by doctors all over the world.
The Norrie Disease Foundation has been invited to form a research partnership with Sparks and GOSHCC on its 2019 National Call – each year, £2 million in research funding to support pioneering project grant applications from researchers is available, with up to £250,000 is available for each grant application. This supports projects researching some of the most difficult and hard to treat childhood diseases and aims to improve diagnosis and develop more effective and kinder treatments for children who desperately need them.
With huge thanks to Sparks and Newlife, research into the Norrie disease hearing loss started in 2017 under the late Professor Maria Bitner-Glindzicz’s team at University College London Great Ormond Street Institute of Child Health. We are very excited to have the opportunity to move this research forwards thanks to the Sparks and GOSHCC national funding call.
Teresa and a cut out of Bruce Forsyth

Strictly come fundraising

Teresa and a cut out of Bruce Forsyth
NDF trustee, Theresa Peacock, turned the big Four-O earlier this year and to celebrate she held a Strictly Come Dancing themed party!

Instead of gifts, Theresa asked friends and family to make a donation to two chosen charities.  Through their generosity, she was able to raise £300 for the NDF!
Theresa has just signed up to do the Royal Parks Half Marathon in October to raise further funds for the NDF, running might not be quite as much fun as the dancing she did at her party!  You can support the NDF by sponsoring Theresa through Virgin Giving.
If you would like to join her in running, there are still places available. You can apply for a place here.
Oliver Stowe with his medal

Well done Oliver!

The Norrie Disease Foundation had their first ever runner in the London Marathon this year.
Oliver Stowe was inspired to run for #TeamNDF because his young son, Grayson has Norrie disease.
Oliver said ‘I’m hoping that running the marathon will both raise much needed funds for the charity but also awareness of the condition, which hopefully in turn will bring more support to the families involved.’
Oliver did an incredible job showing determination and courage during his training despite having a knee injury.
Well done Oliver and a huge thanks from us all for raising an incredible £2,300!
Rare disease day logo

Rare disease awareness month – a time to share

Cameron laughing whilst his mum cuddles himFebruary is rare disease awareness month – a time to share stories, raise understanding and show acceptance.

Before having a child born with a rare condition, I never understood how a disability could affect your life, what it was like to live it every single day and how other people showing understanding, compassion and inclusion could help you to live the life you lead.

This disease brings uncertainty and challenges I never imagined we would have to face. We have to live with the fact every day his hearing is being taken away. We hold onto the hope that research develops and there is technology out there designed to help us, but it still doesn’t stop it hurting, knowing this is our future.

My son lives in a world where he can not see, a world that is designed for all the ‘seeing people’ that heavily rely on all the visual information they receive.

We have to work hard every single day to adapt the world that he lives in, bringing all the information to him. Allowing him to explore and learn in his own way.

But the hardest part of living with a rare disease is actually other peoples perceptions and attitudes.

My boy is non-verbal but shouts and vocalises the most fascinating sounds. He flaps his hands in enjoyment and excitement. He walks on tip toes and bounces. He may bang his head when hes upset. He sometimes sits in a ‘big buggy’ when we are outside. He wears a hearing aid in one ear. He is fed through a tube in his stomach. He may often close his eyes and they look different to yours when they are open. He explores with his hands, mouth and all of his other senses.

All of these things are our NORMAL. Maybe they seem weird or different to you. But to us this is our little boy.

He may face challenges but he is happy and laughs and smiles a hell of a lot. He is not suffering, he does not need pity. He sometimes needs help or adaptations, but he just wants to be included, he is WORTHY of that!

Don’t sit and stare, don’t tut or shake your head, don’t make rude remarks or make us feel uncomfortable. Ask questions, get to know his personality, spend time, learn and accept differences, offer help, support, advice or just be there to sit and listen.

Living with a rare disease can have a massive impact on a family, but we are determined to make it a positive one.

We are here to help Cameron live his best life, and as his Mother i’d go to the ends of the earth to ensure that.

I care for someone rare. The most amazing little boy who was born with Norrie Disease, but he is so much more than his condition.

Image shows Mummy and Cam on Holiday, sat by the pool in their swimwear. Mummy is hugging Cam pressing her face against his, whilst he is laughing.