cure – Nystagmus Network

Your nystagmus research questions answered – question 4

We asked a group of Nystagmus Network supporters what questions they would most like to put to nystagmus researchers. Then we found researchers to answer them.

Your questions were answered by Jay Self (JS), a Consultant Paediatric Ophthalmologist at University of Southampton and nystagmus researcher and Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher

Question 4: How much would it cost to cure nystagmus?

(HL) The grant that I got, which isn’t going to cure even a fraction of nystagmus, was £1.4 million and that’s only the beginning. It’s not going to cure it completely.

(JS) So that’s one small clinical trial. The L-Dopa study is going to work for a subset of a subset of people with albinism. It may well not work in all of them. This is the first clinical trial and usually you need a few clinical trials to get things going. So we are talking about millions and millions and millions of pounds.

The Nystagmus Network is enormously grateful to Jay and Helena who gave up their time on a sunny Saturday afternoon to answer questions from the nystagmus community so openly and fully.

If you would like to donate to the Nystagmus Network nystagmus research fund you can do so here.

Your nystagmus research questions answered – question 2

We asked a group of Nystagmus Network supporters what questions they would most like to put to nystagmus researchers. Then we found researchers to answer them.

Your questions were answered by

Jay Self (JS), a Consultant Paediatric Ophthalmologist at University of Southampton who has been researching nystagmus for around 15 years since studying nystagmus for his PhD. He runs specialist nystagmus clinics and researches primarily cause and diagnosis and treatment of albinism since around 50% of his nystagmus patients seem to have albinism.

Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher, currently working on developing a treatment for albinism.

Question 2: Why isn’t there a focus on cure?

(JS) Sometimes people’s focus changes from cure to what we can do right now to help people in education and so on. I think the honest answer is that all of these things need to be addressed, often by very different groups of people. There are some quick wins and some slower ones. It’s a multi-team effort. It doesn’t mean that one team is more important than the other.

For quite a while we have said that diagnosis is more important at the moment, because it’s very easy to test drugs and do clinical trials, but actually you’re never going to get funding for it and it’s not very likely to work unless you have a very good argument as to why it will work and for that you have to have specific groups of patients.

Cure has lagged behind, but we are getting there thanks to Helena’s work on L-Dopa. And there are a few other things. But if there’s one thing we should focus on, for me it’s getting to the bottom of what’s causing it.

We will publish more of your questions and the answers Jay and Helena gave over the next few days.

The Nystagmus Network is enormously grateful to Jay and Helena who gave up their time on a sunny Saturday afternoon to answer questions from the nystagmus community so openly and fully.

Your nystagmus research questions answered

We asked a group of Nystagmus Network supporters what questions they would most like to put to nystagmus researchers. Then we found researchers to answer them.

Your questions were answered by

Question 1: Will there ever be a cure for nystagmus?

Answer: (JS) Nystagmus is the result of a lot of different things going wrong. Traditionally, to try and find a cure for anything you really need to know what that thing is that has gone wrong and quite often it requires very different treatments. It’s a bit like trying to find a cure for stomach ache. You’re never going to find a cure that treats all types of stomach ache. You need to find out what the cause is and then look at lots of different treatments.

There is also the opposite way of looking at it. If nystagmus is the final result, is there something that can be done to stop the eyes from ‘wiggling’. Will that actually help? In some situations and for some people I think it would. For instance, if you’re an adult and you have acquired nystagmus and oscillopsia because your eyes are moving all the time, that is horrendous. So if we could find a cure for that part you might say you don’t then need to know what the underlying cause is.

So there are different ways of looking at it, but I think a single panacea for nystagmus is very unlikely. I don’t think anyone is going to invent a pill which corrects all the underlying causes.

(HL) I would agree with that. It also depends on what you define as a cure. Is it getting rid of the wiggle entirely or is it to deal with some of the side effects of the nystagmus? We will be able to help with a lot of that in time. It’s just a question of dealing with each problem as they come along and dealing with it on an individual basis. Some people may not be bothered by the wiggle but by the visual function. Some people care more about how their eyes look.

But Jay and I remain optimistic that by the end of our careers we will have found some sort of cure for everything that causes nystagmus.

(JS) An added complication is that there are different types of albinism which have their own causes, so one type of treatment might be appropriate for one type of albinism and not for another. The final level of complexity is that things often depend on who you are and where you live. For example, if you live in sub-Saharan Africa the colour of your skin may be the most important thing to you if you have albinism. If you live in Scandinavia or Europe, the colour of your skin may be way down the list and the vision or the nystagmus may be more important to you.

Nystagmus researchers have for a while talked about developing a kind of toolkit which can be added to. For example, for other conditions you have lots of different tools which can be used in different scenarios. That’s the end point we would really like to get to. It’s going to be slow. It will take a long time. There will be advances in some areas, whereas others are falling back a bit. It’s a levelling process. It’s going to take a while.

We will publish more of your questions and the answers Jay and Helena gave over the next few days.

The Nystagmus Network is enormously grateful to Jay and Helena who gave up their time on a sunny Saturday afternoon to answer questions from the nystagmus community so openly and fully.

30 years of nystagmus research – what a difference it has made

When my daughter was 6 weeks old a paediatrician at baby clinic told me she was blind. Just like that. No preamble. It was a devastating experience, a cruel message, bluntly delivered.

I went to see my GP, whom I knew well and trusted. She confirmed what I already suspected. My daughter wasn’t blind, but she did have something wrong with her eyes.

My doctor wrote the word nystagmus on a compliment slip and handed it to me. She couldn’t tell me any more. I had so many questions, but she had no answers for me. She made me an emergency appointment (another scary thing to hear at this point) with the ophthalmic hospital. It took two weeks to come through.

There followed a barrage of tests, each more alarming than the last, and at the end of it all we still had nothing but that ugly word, nystagmus.

I keep that compliment slip to this day as a reminder of how far we have all come. It’s what spurs me on to support other parents and raise awareness and understanding of this complex condition.

Since the early 1990s the Nystagmus Network has campaigned for and invested in nystagmus research whenever funding permitted. Thanks to the generosity of our supporters, there has been a substantial sum invested nearly every single year.

In the past 30 years clinicians have gained so much knowledge about this truly Cinderella condition: how to diagnose it, which of the many possible causes may be responsible for it and even how well a child will be able to see. They have also learned a lot about delivering worrying news to a parent.

Today researchers stand poised to unlock genetic secrets, manipulate enzymes and stop nystagmus in its tracks.

We have come this far together in just 30 years, a period which has seen the birth of the internet, the end of apartheid in S Africa, the fall of the Berlin Wall, the credit crunch, a decade of austerity, Brexit and, today, a global pandemic.

Who knows what is to come next for our brave new world? One thing is for sure. The Nystagmus Network will still be here, making your voice heard, working alongside the best brains in the country to find effective treatments and yes, eventually, a cure.

With your help, we can do this.

To donate now to the Nystagmus Network research fund, please click here.

THANK YOU.