NDF trustee, Theresa Peacock, turned the big Four-O earlier this year and to celebrate she held a Strictly Come Dancing themed party!
February 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.
The 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.
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.
After 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.
The 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 and Argentina. Some families were meeting for the first time and others were re-uniting but all families made the most of every minute over the 3 days.
Dr Amina Al-Yassin from University College London Great Ormond Street Hospital and Wendy Horrobin, NDF Chair and Coordinator joined the conference to learn about the Norrie Disease Association’s progress in supporting the global Norrie community; 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 Norrie Disease Association did a fantastic job of securing 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 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. 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 Norrie advocate for persons with disabilities. All of these presentations are available on the Norrie Disease Association website.