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July 2017

 

Living with dual sensory loss

 

Carla Danielle Golledge, mum to Cameron, who has Norrie disease shares an incredibly powerful account of her family's journey.

 

I was asked to write a few words about Cameron and his hearing loss, something I do not often talk about. As Cameron was born totally blind, it quickly became 'our normal'.

But despite being told all the possibilities of additional needs Norrie Disease brings, one thing we never mentally prepared ourselves for was progressive hearing loss .Over the months we noticed a change in Cameron's behaviour. Going out in noisy crowded places became a huge problem and would quickly send him into a sensory overload meltdown.

It was difficult to manage his frustrations and his severely delayed communication skills were showing no progress. After years of recurrent ear infections and traumatizing pain, I began to notice certain sounds were somewhat painful to his ears.

After being closely monitored by audiology every 6 months, we decided to insert grommets - where it was then discovered he had full hearing loss in one ear at the age of 3.

When people learn about Cameron's blindness, the first thing that everybody says without fail, is how his 'super senses' will compensate for his vision, especially his hearing. But for Cameron the most important sense is touch. Unfortunately having dual sensory loss can prove difficult at times, he is still unable to form communication and language skills and we have to adapt our surroundings and environment to help him reach his full potential.

Every day we live in fear that the progressive hearing loss will affect his other ear before he develops the skills to talk, something I so long to hear.
It is a ticking time bomb in the corner of the room just waiting to happen.

The grommets were completely life changing, helping to manage the pain and help keep his one hearing ear clear of fluid and congestion. But Cameron has to work ten times harder to locate sounds and process them. He can not see what is making the noise and his hearing is severely affected when there is just too much background noise.

Having a multi sensory impairment has caused Cameron to have very complex additional needs, so much more so than just blindness or hearing loss alone.  When one loss accompanies the other, we feel the disability is far greater and much more difficult to overcome.

April 2017

 

How our son has given us a new perspective on life, by Theresa Peacock

 

Just recently I read a book called Wonder, written by R.J Palacio. The story is about a boy who was born with a rare facial deformity and what everyday life is like for him. It is written from his perspective and also from the viewpoint of some of those that are close to him. It is a wonderful book and I would recommend it to everyone to read. The book ends with these words.

 

“Thank you Auggie,” she answered softly.

“For what?”

“For everything you’ve given us,” she said. “For coming into our lives. For being you.”

She bent down and whispered in my ear. “You really are a wonder, Auggie. You are a Wonder.”

 

The power of these words made me cry. I completely understood how the mother in the story felt and these words pretty much sum up how I feel about my own son. When you decide to start a family your expectations are that all will be fine and life will take the normal path of cute baby transitioning to terrible toddler to starting school and so on. You expect life to be ‘normal’ and for nothing out of the ordinary to happen. What you don’t expect is to be told by a consultant that your baby has a disability. Hearing the news that our son could probably see nothing was gut-wrenchingly, heart-breaking. The shock and sadness of that moment is something that I will never forget, but from that moment on I was determined that the hopes and dreams we had for our son would remain whatever the future held.

 

Ethan is very fortunate amongst those in the Norrie community that we know in that he has got some useful vision, and so far hasn’t had any other issues related to the disease. He started Grammar school in September and is doing really well, we have had some challenges, but he has a great supporting team in his LSAs and the VI team. The amount of braille being produced is incredible!

 

Having a child with any sort of disability can be really tough. It can be isolating, heart-breaking, challenging, exhausting and emotional. It can also be full of moments of joy and wonder. It often brings out the best in the people around us. Ethan has opened us up to a whole new world of wonderful experiences and incredible people. He has given us a new perspective on life. He amazes me every day and I am so thankful that he came into our lives, he really is a wonder.

Family Stories

Rachael McIntyre

 

Teddy’s journey so far…

On the 24th March, 2016 at 8:14am we welcomed our beautiful baby boy Teddy into the world. He was amazing and everything that we could have dreamed of. The doctor came to check Teddy over and found that he didn’t appear to have red eye. After getting a second opinion from his senior, she also confirmed that she couldn’t detect red eye.

 

Teddy was referred to ophthalmology the following day and at just 28 hours old he underwent a series of eye examinations by a paediatric ophthalmologist. Teddy’s ophthalmologist discovered that Teddy had bilateral retinal dysplasia due to his retinas not developing properly. He explained this situation clearly to us and we booked an appointment to see him the following week to go through our situation in more detail. Teddy was prescribed dilating eyedrops and at the following appointment we were told that there was nothing they could do for Teddy’s vision and we would be sent an appointment to see a senior paediatric ophthalmologist in Leeds for a second opinion.

 

A few weeks passed and we attended the appointment in Leeds where Teddy’s condition was confirmed as bilateral retinal dysplasia. The pressure in Teddy’s right eye had begun to rise and after a number of eyedrops failing to bring the pressure down it was advised that Teddy should have cyclodiode laser treatment to get Teddy’s glaucoma under control. Teddy had his first treatment at 10 weeks old and required the procedure three more times. We were then given the good news that the pressure in Teddy’s right eye was stable. During the following few weeks the pressure in Teddy’s left eye began to rise and he required cyclodiode laser treatment in the left eye, too. The pressure in Teddy’s left eye rose much higher (into the late 40s). He required the procedure seven times in the left eye and was prescribed a variety of eyedrops, totalling 9 drops a day.

 

When Teddy was 9 months old we attended an appointment with a geneticist where we were told that Teddy has Norrie disease. This was a total shock to us as there is no history in our family. We were given lots of information about the condition and went away to digest the news.

 

We are now 10 months into our life with Teddy and our Norrie journey. Teddy is still the beautiful baby that we welcomed into the world and we couldn’t be more proud of him. He surprises us every single day with the milestones he meets and the determination that he shows us. Teddy is sitting strongly and has learnt to clap and wave like his peers. He is a happy baby and very strong willed. Teddy makes us laugh everyday and we wouldn’t change a thing about him. Teddy’s condition initially upset us as a family but seeing how he is now and knowing he knows no different makes us realise everything is fine. Teddy is a happy little boy and needs positivity and encouragement surrounding him. We know Teddy’s life will throw many obstacles our way but we live for the day and will adapt as Teddy’s needs change. At present Teddy is a happy little boy that is keeping up with his peers well and is also free of eyedrops with stable eye pressure.

 

If I can make him half as proud of me as I am of him then I know I will have done my best as a mother.

 

 

 

 

Wendy Johnson

 

 

Christopher was born 13th December 1994. At birth, there were no signs of any disabilities. When Chris was 6 weeks old, he came down with signs of a bad chest infection. After being examined, a heart murmur was detected. I noticed a small yellow speck in his eyes, which seemed to be getting bigger within two days. We were with a paediatrician for his heart and by that afternoon we were with an ophthalmologist who then sent us to the Royal Victoria Hospital in Belfast. This was February 1995. We spent a week there and the final outcome was that Christopher was blind with a detached and crumpled retina.

 

We were in and out of hospitals over the years. The outcome was always that Christopher was registered blind. We also saw geneticists over the years but with no outcome. When Chris was 12 years old (2006), Norrie disease was mentioned but at that stage lots of things were based on facial features and Chris did not show this. Photographs, blood tests etc. were sent to English, American and Scottish hospitals and universities with no diagnosis. Also, by this age we had to finally bring medication into his life, which we fought against for years, but when he got aggressive and started to harm himself it had to be done.

 

It was finally in 2012, when he was 18, that we got a diagnosis. We were visiting a geneticist for a little boy we foster. The geneticist had previously looked at Chris’s case and realised that they still had viable blood for Chris and asked permission to use it as new test had recently become available. We said yes and finally had our answer – Norrie disease. My daughter and I were subsequently tested. Luckily my daughter was not a carrier. Six months later, I found out I was a carrier.

 

Christopher is at the complex end of Norrie. Initially, he did have speech (although minimal) until the age of 18 months. Then it slowly stopped. He is pretty much non-verbal now with behavioural and learning problems, incontinence, and suffers greatly with reflux. Luckily we had his hearing corrected at an early age. He now attends an adult day-centre 5 days a week which has brought him on so much. He is the most smiley, loving young man. Although to me, he is still my baby.

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