This Nystagmus Awareness Day we’re asking you to share your story.
This is Sharon’s story …
My nystagmus story started October 2017 when my son was 10 weeks old. He just hadn’t seemed right all day, refusing to feed. I’d taken him to the GP. Fairly happy with a mild urine infection we were getting up to leave as the GP suddenly asked me “Do his eyes always do this movement?” I couldn’t be sure I’d ever noticed and, if I had, that I’d realised it wasn’t normal for a young baby. 30 mins later, scared of what was happening, we were in the hospital undergoing various tests, including an emergency CT scan as doctors feared brain damage was causing the nystagmus – a word I’d never heard of but have spent many hours googling since. After a painful 24 hours we were given a diagnosis of most probably just a visual impairment.
Thankfully a month later a MRI ruled out any brain abnormality.
It took another 2 years of appointments at St James’s in Leeds and with Professor Gottlob’s team in Leicester before genetics confirmed oculocutaneous albinism, type 1b. Although we were told this was a likely diagnosis at our first eye appointment, having the confirmation felt like a huge milestone to recover from the stress caused by that first day of our journey. With many health issues and hospital admissions early on, HPS (Hermansky-Pudlak Syndrome) was considered but ruled out in January 2020 just before my daughter, who doesn’t have albinism, was born.
We met our QTVI 2 months into our journey who invited us to their fortnightly VI parent and child group, a group I’ll be forever thankful for. I struggled to relax in baby groups where my child was noticeably behind his peers by this point and we did struggle to put the stress of that first 24 hours behind us. This group gave me the space to talk about that. I’m so happy to have been able to give something back to this group when, during covid, I and my children helped them record videos of activities to send to new families who had been referred to them when home visits and support groups were not allowed. I couldn’t imagine not having this group in our early days.
I found the Nystagmus Network during my many hours of googling and attended the Birmingham open day where I learnt so much about nystagmus and met other families just like us. From that day I always knew I’d want to be more involved in the charity and use skills I have from my work in something that means so much to our family.
The journey so far hasn’t been easy in many ways but I’ve found it’s always full of surprises that I’ve least expected including my son being 1 of 2 children with nystagmus in his class at school and overcoming gross motor delays, thanks to help from OTs and physio, to learn to ride a bike unaided at age 4. Being in second year at primary, we’ve got a long way to go and I’m sure there will be many more mountains to climb along the way but when I look back to that first night nystagmus was mentioned to me I can’t believe how far we’ve come.
This Nystagmus Awareness Day we’re asking you to share your story. This is James’s story.
Until my son Sullivan was born, we as a family had no idea what nystagmus was, that there was a charity called Nystagmus Network and a wonderful community available for support.
We noticed within a few weeks of Sullivan being born that something wasn’t quite right with his eyes. After several doctors and hospital appointments and being told repeatedly ‘‘He’s only a baby, stop worrying’’ we finally found out Sullivan has nystagmus, with ocular albinism.
Receiving this diagnosis was hard to take. As a parent you want to do everything you can to protect them. You also have the initial shock which clouds your rational thinking – which is something I have noticed through the Nystagmus Network forums. Panic is the first reaction which is only magnified once you turn to Google – Never turn to Google!
As a few weeks passed and further appointments were made at Moorfields Eye Hospital with the incredible Maria. Maria is unbelievable. She was available for video calls and in person appointments – Maria has also supported Nystagmus Network events, so something to keep an eye out for!
Our story with the Nystagmus Network started with the Facebook Parent Forums, which provided our first chance to speak with other parents with children with Nystagmus. Its hard to explain how beneficial that was and still is today! Once meeting some of the trustees and most importantly Sue, I decided to focus on local fundraisers in Jersey with an annual Nystagmus Golf Day and I’m now proudly a trustee.
Sully is now 3, due to start pre-school this September and primary school the year after. It’s from there I feel his struggles will be more noticeable. But we will deal with them as they come. This is only the start of our nystagmus story with great things to come.
If anyone with Nystagmus is to read this, then please get in touch with the charity or myself directly!
Nystagmus has been reported in up to 30% of people with Down Syndrome (DS), and yet is still not well understood. This study, by a team at Moorfields Eye Hospital, aims to characterise the clinical features of patients with DS and nystagmus. It is recently published in the British and Irish Orthoptic Journal (BIOJ).
The article sheds light on the different types of nystagmus which can be present in someone who has DS and, in particular, that these can arise from a variety of causes, not always linked directly with DS.
Full clinical assessment of the nystagmus is needed in order to inform support and management of the sight.
If 50 people each walked 10 miles and raised £100 in sponsorship, that would be £5,000 for nystagmus research.
Why 500 miles?
That’s roughly the distance you’d cover if you walked from one UK nystagmus research centre to all the others. Let’s see if we can do it!
Starting at University Hospital, Plymouth, calling at The University of Southampton, Cardiff University, Moorfields, London, The University of Leicester, you’d eventually arrive at the University of Sheffield some 565 miles later. But you can walk just 10 miles.
What would £5,000 buy?
Here’s a list of just some of the things Nystagmus Network trustees could invest £5,000 in:
- diagnostic equipment for use in a research or clinical setting
- an academic post to focus on an aspect of nystagmus
- a brand new in person nystagmus research trial
How to set up your 10 mile walk
- Decide on your route – you can build up your 10 miles with lots of shorter walks over several days
- Set up your Justgiving page for your sponsors here; we’ll help you promote it
- Download a sponsor form here for your offline donations
- Tell all your friends and family about your walk
- Tell the Nystagmus Network!
It’s long been understood that people with nystagmus can struggle to pick out objects from an image or face in a crowd. That’s a phenomenon called visual crowding. But how does nystagmus cause this?
Now Vijay, Taylor, nystagmus researcher at London’s Moorfields Eye Hospital and University College London has shown that the eye movements associated with nystagmus are responsible.
Eye movements elevate crowding in congenital idiopathic nystagmus
Mr Taylor has been undertaking a PhD in visual crowding and idiopathic nystagmus and this month his findings were preliminarily published. He says: “I hope through my findings and investigation of nystagmus eye movements we can develop tools to improve access to education and daily tasks.”
For Vijay having his work published is ‘super exciting’.
The Nystagmus Network helped recruit research participants for the study. Thank you to everyone who took part and well done, Vijay! We’re super excited, too!
On Friday 2 October, the Nystagmus Network once again hosted the annual UK nystagmus research workshop.
This is an opportunity for researchers, clinicians and academics to get together to share their work and plan greater collaboration. They are, after all, all working towards the same goal. The workshop took place via zoom.
Nystagmus Network trustees and staff were delighted to be joined by nystagmus experts from
- The School of Optometry and Vision Sciences, Cardiff University
- The Ulverscroft Eye Unit, University of Leicester
- Moorfields Eye Hospital, London
- Royal Eye Infirmary, Plymouth
- Academic Unit of Ophthalmology and Orthoptics, University of Sheffield
- University of Southampton and Southampton General Hospital
The Nystagmus Network is today hosting the UK Nystagmus Research Workshop 2019 at the School of Optometry and Vision Sciences, Cardiff University. Delegates are joining us from the 6 UK centres of nystagmus research excellence. These are:
The School of Optometry and Vision Sciences, Cardiff University
The Ulverscroft Eye Unit, University of Leicester
Moorfields Eye Hospital, London
The Royal Eye Infirmary, Plymouth
The Academic Unit of Ophthalmology and Orthoptics, University of Sheffield
The University of Southampton and Southampton General Hospital
All delegates will also be attending the Nystagmus Network Open Day 2019 at the Principality Stadium, Cardiff on Saturday.
The Nystagmus Network will once again be hosting a UK nystagmus research conference in 2019.
Following the success of last year’s event, attended by research and clinical teams from the Universities of Cardiff, Sheffield, Plymouth and Southampton and from Moorfields Eye Hospital and Fight for Sight, the charity will be funding a further event with a view to bringing about ever closer collaboration between teams and seeking out new and collaborative ways to make rare resources stretch even further.
As testing and detection become ever more sophisticated, it is hoped that outcomes for babies born with nystagmus will continue to improve, with effective treatments, prevention and even cure moving closer. In addition, therapies and interventions for young people and adults with congenital and acquired nystagmus continue to be explored.
This year’s conference takes place at the University of Cardiff in September. Delegates from across the UK have been invited and the charity is delighted to announce that representation from Leicester, London, Plymouth, Southampton and, of course, Cardiff is already confirmed. Clinicians, researchers and academics will be joined by Research Manager at Fight for Sight, Neil Meemaduma and those Nystagmus Network trustees who sit on the charity’s research committee.
Research teams will also attend the Nystagmus Network Open Day in Cardiff on Saturday 28 September, where they will be available to speak with delegates about their work.
Huge congratulations and thanks to everyone who turned out on a very blustery Sunday morning to walk 4 or 14 miles around the streets of London to raise money for pioneering nystagmus research at Moorfields and UCL.
The final total is still being counted, but we can report that together you have so far raised a massive £7,600 and counting! WELL DONE EVERYONE!
See photos of our fabulous walkers and finishers by clicking here.
There’s still time to register to join Team Nystagmus Network to walk Eye to Eye at 11am on Sunday 10th March. You can choose to walk the 4 or 14 mile route.
Team Nystagmus Network sets off at 11am.
Who’s on the team?
Join Ella and Sam, Andy and Heidi, Andrew, Orla, Nikki and Tremaine, Marc, Mila, Carmen, Imma, Becky, Maria and Katie, Trudy and team ‘Oscar’, and not forgetting Frances. So far these wonderful people have already raised a massive £5,000 for nystagmus research at Moorfields and UCL. Please come and join them and help boost their total even higher. Together, we can make a real difference.
Nystagmus Network trustees will be at the starting point to wave you off and will be walking the route with you, too.
Set up your Justgiving page
Click here to join the team today then set up your Justgiving page and link it to the Nystagmus Network to ensure that every penny you raise goes to nystagmus research.