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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.

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 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.

Dr-Florian-Eichler-Director-of-the-Center-for-Rare-Neurological-Diseases-at-Massachusetts-General-HospitalThe 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.

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