Ethan smiling

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

Ethan with his mum Tee, Dad Neil and brother Jasper 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.

The Norrie Disease Foundation funds braille parties to teach the fundamentals of this essential life skill in a fun and relaxed setting. Braille can be taught from a very early age and enables communication with peers, family and friends as well as independence.

Cameron’s Smile – Progressive Hearing Loss

Cameron playing outsideAs my son 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 his 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 traumatising 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 his 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.

My son has to work ten times harder to allocate 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 my son to have very complex additional needs, so much more 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.

 

The Norrie Disease Foundation is developing a patient registry to support pioneering research into the Norrie disease hearing loss.

Samuel Wilkins – Using technology in daily life

Samuel and his dog PilotSamuel lives in Gillingham in Kent. Norrie disease means that Samuel is blind, partially deaf, and on the autistic spectrum. Samuel volunteers as a telephone befriender for carers. Samuel says ‘I find daily life fairly easy to handle, and I do my best to concentrate on the things I can do, rather than what I cannot do’. True, there are times when I get frustrated, and sometimes I feel I need to let off steam, but for the most part, I don’t let it get to me.  Moreover, my Christian faith is very important to me, and helps me get through having disabilities’.

Samuel says ‘It’s been very important for me to know how to use technology and to fix any bugs I find, and to keep on top of what is available. Technology is very important for blind and partially sighted people because without screen readers on computers and phones, Braille tablets, adapted domestic equipment and accessible toys, (to name but a few examples) we would not have so many advantages as fully sighted people.  However, it is also a good idea to find equipment that can easily be adapted by you personally. I have marked the knobs on an oven with a tactile marker, which is less expensive and easier to maintain than buying an expensive piece of specialist equipment’.

One of the top pieces of technology I have used is a screen reader on the PC.  I used the Window-Eyes screen reader from 2003, up until it ceased development in 2017.  Since then, I have been using the NVDA screen reader, but I also have experience of Jaws.

Regardless of the screen reader used, they are invaluable tools for anyone on a PC or Macintosh computer, as they can give access to all sorts of features, such as editing text, reading emails, working with the internet and scanning documents and converting Kindle books.

I also learned to touch type, which is a very important skill to have, as it makes writing documents a lot quicker.  Here blind people have an advantage over their sighted peers, many of whom cannot touch type or do not touch type well.

Another piece of technology I use a lot is the BrailleSense Braille tablet.  This is an Android based tablet that has many functions, including word processor, schedule manager, email, web browser, the ability to connect to phones and computers, and the ability to download apps from the Google Play store. This device, and other similar products, such as the BrailleNote, can be invaluable in many situations e.g. reading books, working in a classroom, office work, and writing notes.  In fact, these technologies can make learning Braille easier for both blind and sighted people, as the Braille is very clear, and since there is a screen as well, a sighted person can compare what a print symbol looks like with the same symbol in Braille.  I would even say that despite what some people have said, Braille is not dead, and if you have the ability to learn it, then it will be invaluable to you’. 

My IPhone is something I never leave home without. Every iPhone has a screen reader function (voiceover) built in, and don’t worry if you have an android phone, a screen reader can be installed.  Even with a touch screen, it is possible to learn how to use these phones in a relatively short time, and if using a BrailleSense or BrailleNote, all functions can be controlled by the Tablet, so all private information is read in Braille while the iPhone stays safely in its case. Not only does this make your information more private, but it also means you can text, or email with the speech turned off, thus avoiding annoying fellow train passengers or office colleagues with a constantly chatting phone.

There are countless apps that can be downloaded onto accessible smartphones, however it is often trial and error as to whether they are accessible. I often use the Moovit app (a public transport information app) because I travel around Kent regularly, and need to plan my journeys. I also use GPS on the phone, however I would advise caution when using any form of navigational aid. GPS systems cannot warn you that someone is coming up to you, or stop you from bumping into a lamppost. They also can’t tell you if it is safe to cross the road, or if this particular road has four way traffic.  Also remember that the map data may not always be up to date.  GPS systems won’t replace your cane or guide dog either. “

David Wilkins

David Wilkins‘There is no reason why Norrie should hold you back. Indeed it will only hold you back if you allow it to’.

David has Norrie Disease and says ‘Even I still can’t quite believe it!’ David is blind with no light perception at all, partially deaf with hearing aids in both ears and dyslexic. David says ‘I am disabled, and it is thanks to Norrie that I am disabled. But there is no reason why Norrie should hold you back. Indeed it will only hold you back if you allow it to.’

David says that ‘It is thanks to my parents I have gone from strength to strength in my life. I’ve done a 12000 foot parachute jump from a plane (not solo), I’ve sailed the high seas on a tall ship for the disabled which involved climbing the mast right to the top and getting absolutely drenched more times than I care to remember.’

David has been encouraged to follow the dreams he has as much as he can. He lives alone in a house of his own and has help with cleaning and looking after it, but he cooks, washes and looks after himself. David has also worked In South Africa, Lincoln and Guernsey as a journalist whilst pursuing his ultimate goal of being the BBC’s foreign correspondent in the city of Jerusalem (this hasn’t happened yet) and he continues to seek adventure wherever he can find it.

David’s attitude to life is incredibly positive and he says ‘Your dreams may be that you just want to make a cup of tea without any help, cross the road on your own, live alone one day and have a family. Maybe you are a parent in the Norrie community and you want to know whether your child can succeed, and what help they need from you. Maybe you’ve been told so many times what you cannot do or what your child cannot do that you’re finding it hard to decide what you can do for yourself but I believe and know that you can dream and achieve the undreamable’.

Help At Last – Living With Norrie Disease

5 year old Cam

One Mum’s story of finally finding help for her son’s very rare genetic condition at Great Ormond Street Hospital

Our son Cam is 5 years old and has Norrie disease which causes mainly boys to be born blind or with a severe sight impairment. Other secondary symptoms include progressive hearing loss, cognitive impairment and autism.

After years of trying to find medical professionals who understood Norrie disease we recently visited the Developmental Vision Clinic at Great Ormond Street Hospital. We were referred there by our Opthamologist due to behaviour and communication difficulties. The assessment was around 2 hours long and took place with a consultant paediatrician and occupational therapist. The Reynell Zinkin Scales suggested Cameron’s sensorimotor understanding was of a 1 year old and his weakest skills in the domain of communication were at less than a 6 month old level.

It has always been obvious Cameron’s pace of learning is very slow, and it is now clear his brain is not functioning the way that it should. The doctors are investigating previous brain scans and we also came away with a diagnosis of Autism Spectrum disorder.

We do not feel upset by this news, we have already accepted Cameron for his uniqueness over the years and we feel it’s  just another part of his wonderful personality and the reason why we love him so much.This new label can only lead to more open doors of opportunities and it will never define who he is.

It was reassuring to hear, that we as parents are doing all we can do to push his progression forward and have all the right measures in place. With this new information we can continue to put the best suitable strategies in place that best fits Cameron’s needs.

We also discussed his level of hyperactivity and his constant need for physical activity. Cameron really struggles to relax, continuously bouncing, rocking, standing, all day long. We know this affects his level of concentration and want to explore every option of medication or therapies that can help.

I never want to change his personality and the little boy he is becoming. His smile continues to light up our life and although the report was a tough reality check, we see it as another barrier to break down and overcome, because my little boy is strong willed, brave and fearless and I know he will continue to make progress in his own time and of course in his own way.

The one thing that really hit home was Cameron’s poor feeding and the illnesses he has faced over the years due to malnutrition. We all agreed his Gastrostomy feeding tube saved his life and he wouldn’t be here today without it. That there makes me appreciate him even more.

I only wish we would’ve known about the Developmental Vision Clinic at GOSH service sooner & I urge anybody in similar circumstances to visit the DVC. I have waited 5 long years to talk to Doctors who understand and just ‘get it’. Not only did we receive a full report, but a plan to move forward and support him, liaising with everyone included in his care.

We walked out of Great Ormond Street Hospital that day, loaded with new information, a new diagnosis, a key to unlock the next stages of Cameron’s development and a what feels like a weight off our shoulders.

By Carla Danielle Golledge

GOSH Developmental Vision Clinic (DVC)  is setup to see babies and young children with severe-profound visual impairment up to the age of 5 years to provide guidance on developmental progress, and answer any other questions that families may have about their child’s vision or development. This is in addition to the crucial support that hopefully families are getting from their local services, particularly the QTVI. Families should be linked into the local child development service (Community Paediatricians and therapists).

GOSH DVC service is a ‘tertiary’ service (GPs are primary, Community Paediatrics/Child Development Centre is secondary, specialist hospitals are tertiary) and can only take referrals from a Community Paediatrician or Hospital Paediatrician or from an Ophthalmologist.

Here is a link to GOSH web based information:

http://www.gosh.nhs.uk/medical-information/clinical-specialties/neurodisability-information-parents-and-visitors/clinics-and-services/developmental-vision-clinic

For UK families who wish their child  to see an Ophthalmologist, Audiologist or Endocrinologist at GOSH they can ask their child’s Paediatrician or Ophthalmologist for a direct referral to these services,  if there is a clinical concern. The decision to accept the referral or not will then be up to the receiving team at GOSH for instance if a child is growing well, with no concerns about faltering growth, other hormonal difficulties or other pathology, the Endocrine teams may be happy for local monitoring and referral at a different point in time.