The Mcintyre family

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.

The Norrie Disease Foundation is developing information materials for medical professionals who may be unaware of Norrie disease and for parents of newly diagnosed children.

Why bother With Braille?

David WilkinsJanuary was Braille Literacy Month and the Norrie Disease Foundation have shared some stories from the Norrie community about what Braille means to them.

Why bother With Braille?  By David Wilkins who is blind and wears hearing aids due to Norrie disease.

The question first came up on the deck of the Tenacious, a tall ship for the disabled. And this was such an odd question it took me by surprise ‘but David, why do you bother with braille when you have audio instead?’ at the time I felt I was dealing with one of those rather strange people who for one reason or another prefer to use something different to the crowd. But I was to find that it was a question being asked regularly in the VI community.

The argument goes that with revolutions in technology and audio, why use a complicated system of raised dots which takes years to learn? The irony is that 110 years after the birth of its creator Louis Braille, his invention is everywhere. On train sinks and doors, on medicine boxes from the chemists and even on some (though very few products at the super market.) At the time of Louis Braille’s premature death at 43 this would have been unthinkable, as his own school flatly refused to introduce a system that did not use print letters.

So why one may ask, do some visually impaired people suggest that Braille is old hat, or surplice to requirements? Probably because they lost their sight at a later age (after 50) when reading Braille is
much much harder. Or maybe also because their hearing has given them no trouble so far. With good hearing and no need of an aid, it is conceivable that you feel you do not need Braille at all. You can hear
your computer, you can hear your friends and your audible phone app so why bother with Braille? The answer of course is that without it, you cannot read.

In the days before Braille the only system available was raised up printed letters, which were both hard to feel anyway, and so difficult to produce very few books existed. Blind children often had to rely on what the teacher said and very little else making Braille a true revolution.

Even today Braille fulfils functions audio never can. It’s difficult to listen to audio notes when doing a presentation, or to read aloud from a text if you’re trying to listen to it with one ear and find half way through that the voice is going faster than you can follow it. That’s how mistakes are made. But most of all, a child not taught Braille is more or less illiterate. They will be unable to read on their own, and if their hearing starts to give them trouble, it may well be too late for them to even learn Braille.

It may have taken me six years to become a competent Braille user, and a bit longer before I got used to reading on my own, but I’m now a veracious reader of anything I can find. And the introduction of technology which developed the Braille PDA means I can now access as many books online as I want to read. With no Braille, well I think I’d still be complaining that I couldn’t read the book I wanted because it hadn’t been recorded yet.

There is still the nagging question I’m asked from time to time “but why bother with Braille?” but now I have an answer, ‘because without it I’d be unable to read, or write, who wants to live like that?’ and if that means as some say I’m part of a mall minority who believe Braille is the future, well…too bad.

What Braille means to me

photo of Anthony Pitch Ryers speaking at the Norrie family meet in November 2018by Anthony Pitch Ryers who has Norrie disease.

Although I was diagnosed with dyslexia and am hence less good in Braille than I would like to be, I never for a minute underestimated the importance of Louis Braille’s work.

Often, it is said within the blind community that the era of braille is over. Speech technology would give easy access to digital text without having to print heavy and voluminous braille books or carrying around braille displays.

Admittedly, without this technology, I would not by far stand where I stand today and the possibilities it gives to access just about any digital information quickly and easily are almost endless. But even as a diagnosed blind person with dyslexia, I can say that nothing beats the richness of being able to exactly read what is written. This is something that is only possible thanks to Braille. Beyond
providing a literary experience, reading Braille regularly is also the only way to fully master the spelling of a language, a skill that is not trained when using digital speech, but which is no less than essential in today’s labour and study market.

Most of all though, Braille is the most important gateway to the world’s communication and literature for people who also have a hearing impairment, which is relevant for Norrie disease in particular.

Over all, I hence think that Braille skills are still a must have in today’s society and I would advise any blind person to train and maintain them, myself included.

Cam and his family

Rare Disease Awareness

Five years ago our lives were affected by a rare genetic disease.

I will never forget the day my world came tumbling down before me. The day my beautiful baby boy was diagnosed with Norrie Disease.

We could never prepare for what this disease would bring or how it would change our entire world.

But looking back on our journey, we know we are blessed to be part of a family with this rare condition.

Rare is good, rare is unique, rare is BEAUTIFUL.

I can guarantee you will never meet another child like my son, his soul will bring joy to your life forever.

Rare made me STRONG.

I am proud to care for someone rare.

The Norrie Disease Foundation raises funds for family days to provide peer and emotional support to the whole family. These are at the heart of our activities and are so important to the children, young people and adults affected by Norrie disease and their parents and siblings, to be able to speak to others in the same situation as themselves.

Cameron’s Smile – Young Carers Awareness Day 2018

Yesterday was Young Carers Awareness Day 2018.

My sister has been helping to provide care for me since the day I was born.

She understands about my conditions and disabilities and uses this to educate others.

At home she helps to keep me away from dangers, helps me to take part in activities such as sensory play and even helps aid my mobility around the house and access the environment outside.

She has supported me through endless hospital admissions and procedures and as a result of this, has sometimes had to miss time from school or extra activities.

The bond we share is unbreakable, she is patient, kind, understanding and the greatest advocate for children just like me.

The Young Carers Centre, has supported her over the last year to take time out from what can sometimes be a very stressful home life.

She gets to meet up with other children in similar circumstances, where they can share their feelings or just take time out to enjoy being a ‘normal’ 8 year old and have fun taking part in new activities.

They provided her with respite for 3 days away during the holidays and are a great support to help her maintain good mental health.

Morgan created this poster in aid of Young Carers Awareness Day, a day to pause and recognise these incredible young people and the enormous impact they have on the people around them.

This year the Support Centre focused on raising awareness of mental health amongst young carers and those who support them.

Image shows Morgans poster she created to help raise awareness. There is a drawing of Morgan and I holding hands surrounded by love hearts. She has wrote: I look after my brother. Sometimes i miss out on things other kids are doing. Meeting up with other young carers helps me maintain good mental health.

The Norrie Disease Foundation raises funds for family days to provide peer and emotional support to the whole family.  These are at the heart of our activities and are so important to the children, young people and adults affected by Norrie disease and their parents and siblings, to be able to speak to others in the same situation as themselves.