TheBlindJournalist: An Insight Into Retinitis Pigmentosa RP Radio Documentary

Transcript for ‘An Insight Into Retinitis Pigmentosa’

Sufferers Clips. RW At night time when I’d go to bed I would get butterflies and think how am I going to cope, SG Sitting on the steps at the cinema instead of sitting on the seat, CS I went through a period of depression 9 secs > Going blind, that’s what they’re talking about. I know how they feel. We all suffer from Retinitis Pigmentosa. It’s one of the world’s most debilitating eye conditions. > SFX Typing on a keyboard > My name’s Mohammed Salim Patel. I blog as ‘TheBlindJournalist’ and in this radio documentary I’m going to give an insight into this condition, which affects 3.5 million across the world. But what is Retinitis Pigmentosa or RP as it’s more widely known? Genetic Counsellor Georgina Hall, from the Manchester Centre for Genomic Medicine > GH Retinitis Pigmentosa is actually a group of conditions. They’re inherited conditions that cause a deterioration of the Retina, which is the light sensitive film at the back of the eye. Amongst that group there are many different types; so some come on from birth, others come on later in life. Most of them, but not all of them, progress with time so that individuals with Retinitis Pigmentosa have gradual vision loss, which can vary from one group of genes to the other. So some can have more problems with their peripheral vision and their night vision. Others can have difficulties with central vision and reading and recognising faces.   30 secs > DP 1 SFX Car window close > I’m at the Royal Blackburn Hospital. It’s a dismal Friday morning. I’m here to meet Consultant Ophthalmologist Dr Anaswami V J Kumar. I was diagnosed with RP at the age of three. My younger sister; Nadia has inherited it too. RP is unique because the rate of progression is never the same. I’ve found this with Nadia as I’ve lost my sight a lot quicker than her. This isn’t uncommon but why? > SFX open and close car door > VJK Varied Why’s it varied? It’s because of the amount of rods and cones affected in a particular individual. There are millions of rods and cones in the Retina. The cells are described as photoreceptors. Now, essentially in Retinitis Pigmentosa these cells start to die and the reason why it varies from person to person is the extent of damage to these cells. It all depends on how many cells have been damaged so in Retinitis Pigmentosa the first cells to die are the rods and rods are situated in the peripheral part of the Retina outside the breaches of the Retina and hence you find that it affects peripheral vision first. The central part of the Retina, the cones, are situated mainly in the central Retina. So that is the one which is affected last. > Having this condition means that it affects all aspects of sufferers lives. Especially when it comes to socialising because RP has many symptoms. Tunnelled vision is one of them.  > VJK Most of the patients with Retinitis Pigmentosa you will find that they retain good vision. In other words when they read the test chart at the opticians they’ll be able to read quite a lot of letters down the line. But they will have to do a searching moment because they have a kind of tunnelled vision. They can see the letters but they’re looking through like a tube 1min 9 secs > DP 2 Ruth Walmsley has RP. When we met tunnelled vision meant that there was an awkward moment. I couldn’t see if Ruth had extended her hand for me to shake it. Tunnelled vision means that I can only focus on one element at a time. Ruth’s 52, and was diagnosed in 1991 > RW 1 I’ve remembered the year because it was the year that I’d had my daughter and she was three months old when I was actually diagnosed. I’d got a two year old girl as well, so I’d got two daughters and it was quite a shock because there’s nobody else in the family that have got it. So it completely came out the blue. Initially I suppose I was a little bit worried and frightened you know at night time when I’d go to bed I’d get butterflies and think how am I going to cope. But with having two young children to look after you can’t sort of sit and dwell on things too long. You still got to get the routine, they still needed to be get up and dressed and have their food. So the fact that I had a young family to look after really made it that I wasn’t focusing too much on the fact that I was going to lose my sight. > Many would think that going blind means life comes to a standstill but Ruth didn’t let it. She’s raised a family and works part time in a bank > RW V2 Now I’ve got no sight at all, I’ve just got light perception, the fear of what it would be with no sight is a lot worse was a lot worse than actually living and managing with no sight because it’s not been as bad as I thought it would’ve been. it’s a lot to handle, and I’m not saying it doesn’t have a big impact on your life, because it does, but it is manageable and with the right support and understanding from people around you can still have a really good happy life 1 min 21 secs > Growing up I had a good amount of vision but in my late teens my sight started to go rapidly. The possibility of going blind does scare me but I try not to think about it. I will just have to accept it like Ruth did and focus on my ambition to be a broadcast journalist. My disability makes me who I am. > SFX Phone ringing “Hello RP Fighting Blindness, how can I help? > RP Fighting Blindness is the only specific charity for the condition. At the time of this interview David Head was the chief executive of the organisation. > DH 1 The organisation was formed, nearly 40 years ago, in 1976. Long before my time. But our founder a lady called Linda Canter, she was diagnosed with RP and was quite upset at the time about the lack of information that was available about the fact that there was no cure or treatment. Also about the way she was treated when she was diagnosed. So, very much a case of being told that she was going to lose her sight and that there was nothing that could be done, all very blunt. Linda is not the sort of person to let things like that happen to her. So she got together a number of patients and a few scientists with an interest and was determined to change things and that was how we started. So it’s a patient driven, a patient initiated organisation 45 secs > RP Fighting Blindness isn’t just a UK organisation. It has links abroad too > DH 2 We are a member of an organisation called Retina International and Retina International pulls together organisations like this one from about 40 countries around the world and the idea is to encourage dialogue to make sure that scientists are communicating well with patients around the world and if we can to influence the direction of some of the research and to try and encourage the scientists to collaborate around the world and to avoid duplication. So, we have quite a bit of respect internationally and a little bit of influence but primarily we’re a UK organisation 39 secs > As Retinitis Pigmentosa affects 2-3.5 million people across the world. It’s understandable that people look to the leading countries in medicine for cures and treatments. > Fade in CS 2 coming to London my father had a hope that it would be diagnosed and there will be a cure for it fade out and fade in link > As did the parents of Chandni Sony… Chandni is a 32-year old qualified accountant and was diagnosed when she came to the UK from India in 1997. The condition affected her a lot. She’s behind with her education by two years Chandni also went through a period of depression > CS 1 My vision was quite bad as a child anyway so we knew that I had problems with my eyesight but early on I could see much better but over the years I’ve lost my sight quite massively 12 secs > This condition is not only life changing for its sufferers. Their families are also affected hugely > DH 3 One of the groups that needs the most support when it comes to information and emotional support sometimes are the parents of children that are diagnosed who face a horrendous and we have more calls on our helpline from people in that situation than people who are affected themselves 18 secs > CS 2 It’s affected my parents life because at home we were told that I had an eye condition but it wasn’t actually diagnosed. And coming to London my Father had a hope that it would be diagnosed and there will be a cure for it but he gets told that there is no cure and this is what the eye condition is and it can progress. So, it had a huge impact on him because he feels he’s responsible for the whole eye condition problem that I’m facing because it’s a genetic disorder. So sometimes he emotionally feels quite weak 27secs > Retinitis Pigmentosa still has no cure. But why is this? Georgina Hall and David Head explain > Y no cure GH Genetic conditions as a group of conditions are very difficult to find treatments and cures because they are obviously part of your genetic makeup so it’s part of the way your body’s been put together. Cause its part of your genes, and there are lots of different genes in RP, it has been a very tricky condition to work on. DH RP is a very complex condition. It’s caused not just by a single gene floor. There are up to 500 different genes implicated, depending which scientist you talk to. Some very complex genetics and very complex bio-chemistry involved and the research we’ve done has been untangling things only to find even more entanglement that needs to be worked on 41 secs > Even though there is still no cure to RP; a lot of money and time is being spent on research to try and find one. But for research to take place it’s critical to raise public awareness.. Louisa Lytton, who starred in EastEnders and The Bill, is doing exactly this > LL 1 My cousin was diagnosed with Retinitis Pigmentosa when he was 12 years old, he’s now 26, I’m two years younger than him so I was ten. Growing up around him I think I was aware that obviously it was an eye condition but I was never really aware of exactly what it was or how much it was affecting him until maybe five years ago. Seemed to be the first time that me and my cousin actually sat down and had a conversation about the condition that he had. So that was kind of when I was aware really what Retinitis Pigmentosa was 33 secs > As well as Louisa being aware of her cousin having this condition. Recently a close friend of hers was diagnosed which galvanised Louisa to take action > LL 3 I’m now producing a documentary called Don’t Look Back which we’re hoping to have televised within the next six months to a year. As long as more people are aware of this condition then that’s all I need it to do. 33 secs > DH 4 Every time we’re mentioned in the media or every time a celebrity is prepared to talk about the condition, if it affects them or if it affects a member of their family. Then it certainly helps. To give you another example recent coverage and expression of support from Jeremy Vine and on Radio 4 is very helpful to us. And when there is some media exposure as a result of a high-profile person talking about it. We see an upsurge in visits to our website and people asking us for information and sometimes people supporting us financially 33 secs > it is fantastic to see the likes of Ex EastEnders star Louisa raising awareness about this condition. There are also many others as David has mentioned doing the same thing. RP Fighting Blindness feel very strongly about raising awareness as this condition is becoming very common > DH 5 It’s very interesting the question of awareness because in the UK for example inherited Retinal Dystrophies are now the largest cause of sight loss in people of working age. And that’s because the incidents of diabetic retinopathy reduced as a result of treatment and screening. So now inherited retinal dystrophies are the largest cause of people being registered blind. And yet if you were to ask the man in the street if he’d ever heard of Retinitis Pigmentosa the chances are that person would say no. So there’s definitely a job to do in raising awareness of RP of retinal dystrophies and of the issues that people who have retinal dystrophy face 45 secs > Even though RP is a hereditary condition me and my sister cannot trace it back in our family. Georgina Hall told me that this is a common occurrence and this form of RP is called recessive RP > GH 5 Recessive RP They’re all genetic but I think it can sometimes be confusing because people put genetic and hereditary together. They don’t always run from one generation to the other depending on what type of gene change it is. They can recur in families but in different patterns. They’re may be up to 200 different genes that can cause RP and retinal dystrophies and there all inherited in different ways. Out of the whole group of RP, recessive is the most common. All of our genes come in pairs so for all 30,000 genes, instructions in our body we’ve got two copies of them. We inherit one copy from mum in the egg and one copy from dad in the sperm. In recessive RP somebody has two faulty copies. So for their particular gene both copies have a fault in them. So when the body’s trying to read that instruction neither of them are working > The way that recessive RP comes about is the child inherits two faulty copies of the gene. One from mum and one from dad. The other copy of the gene is normal, which is enough to compensate. Mum and dad will have normal vision but they’re what we call carriers and then it’s by chance and bad luck that when they had children together they both past on a faulty copy of the gene. Erm and in that type of inheritance we can see brothers and sisters affected but we don’t tend to see previous generations because although people might have been carriers in the family the condition would only show itself if they married another carrier and both past on a faulty copy of the gene. MANY of actually are carriers of gene changes and its only if our partner happens to carry the same gene change that it would show itself in the children 2 min 10 secs > Dr Kumar highlights the importance of genetic screening and has more advice for patients > VJK 1 what I would tell a patient whose got Retinitis Pigmentosa is of course first thing is to get genetic advice that’s very important because it is something he is going to pass it down to his children and so on. But leave that to one side. Apart from that the advice I’d give is to take palmitate, it’s a specific vitamin A PALMITATE, that is the drug which the patient has to take. And what it does is it tends to slow down the condition. Another recommendation for slowing the vision loss is to wear sunglasses to protect the retina from the rays of the sun particularly the ultra violet light and that’s what is very damaging so the all patients with Retinitis Pigmentosa should protect their eyes all the time just to ensure the harmful rays do not have an adverse effect on the Retina 46 secs > Steven Goulden is a 64 year old civil servant. He was diagnosed with RP in 1955. Genetic screening was crucial in identifying whether his children would’ve RP. > SG 2 We were a bit worried at some early stages because of the inheritance patterns of RP. I had the genetic screening and I found out my inheritance pattern was X linked so my son was fine. My daughter will be a carrier. > GH TESTING 1 In the UK there is an NHS test that can screen for 180 of the genes involved in the retina. Genetic testing has expanded enormously over the last 5-10 years so five years ago we were able to test for a few of the genes particularly in the X linked types of RP  and we were able to offer genetic testing. So the X linked type is the type that affects boys. There are two genes that cause that and we were able to test for those. But for the other genes we really didn’t have very good mechanisms cause it was very complicated, there was so many. So we think our current detection rates are about 60-70%. There are still a lot of people who have the tests and we still can’t find the genetic cause but our tests are getting better 49 secs > SG 3 It has affected of course it has affected the family but I think they’re very positive about sight loss. My eight year old grandchild she is very helpful will take my hand come on grandpa I’ll take you here you know so they treat it as a matter of fact basically   > Genetic screening may identify the condition. But the ethical questions it raises can be very difficult > GH TESTING 2 If we can find the gene in the family. If we go back to the recessive I explained earlier where we know that mum and dad are both carriers. They’ve got in fact a 25% chance of both passing on the faulty gene. We can use genetic testing to find out who in the family are carriers and then if they wanted to make choices around that there would be options. The options are not easy options so if parents are both carriers it’s possible to test the baby during pregnancy to see if they’ve inherited two faulty copies and in theory with some genetic conditions parents would chose to terminate that pregnancy so as not to pass those genes on. There are other options using an IVF pregnancy and something called pre-implantation genetic diagnosis where babies can be fertilised in a laboratory and early embryo’s tested for genes and couples can choose to have embryo’s implanted that don’t carry faulty genes > Research for a cure is taking many different form. RP Fighting Blindness are funding some of these trials > DH 7  Well we’d like to invest more money if we could into medical research it boils down to money of course these things do. We live in austere times and medical research is very expensive. We’re funding about a dozen different projects all of them in the UK at the moment. Funding work on gene therapy, on genetic testing, on the use of drugs, on the application of stem cell therapy. We’re doing what we can with the money we have is the short answer. To put that into perspective our two largest projects at the moment. Funding some work at UCL institute of ophthalmology on the development of gene therapy and that’s a total investment of three quarters of a million pounds and we’ve just announced the start of a new project which we’ve called the RP genome project which is about RP genetics, genetic testing and gene hunting and that’s an investment of 1.2 million pounds over the course of a three year period > So things are being done but what’s exciting medical professionals for the future. Research VJK Lots of research is going on in Retinitis Pigmentosa. The things they’re doing are gene therapy because it is a genetic condition, it’s a mutation. Mutation basically is the gene keeps changing and that’s was causes Retinitis Pigmentosa. And the second thing they are doing is stem-cell therapy again injecting stem cells. Stem cells are the precurse cells of all your cells in the body, that’s where everything forms. So you can grow tissue from a stem cell you can grow a cornea, you can grow muscle everything from a stem cell in a laboratory. Now they’re trying to work on that and see whether they could do that declutch the retina, to replace the retina. And the other thing is interestingly in America they’re trying it’s an implant actually it’s called an Argus Retinal Implant. This has received approval and they trying to implant this in certain patients to see whether that has got any benefit. Basically what happens is you put the implant in the eye then you have a special sort of an electrode which is attached to your spectacles  and basically what it does is the implant sort of picks up the light energy converts them to electrical energy and transmits to the brain 1 min > So there are hopes and new ideas around treatments but it is the aim of charities like RP Fighting Blindness to ensure that sufferers are aware of these latest advances > DH 6 To date we haven’t really described ourselves as a pressure group. I think increasingly, there will be a case for us to be more of a patient voice in the future. Our role to date has been about raising money for funding medical research and about providing support and information to people. There are a few issues specific to RP that are emerging for example getting access to treatments as they develop and as clinical trials are completed. And it might well be that this organisation has to adopt a bit more of a patient representative or campaigning role in the future.  38 secs >  Although patients with RP lose their sight. Making this documentary has shown me that we will never lose hope for a cure > Georgina Hall: Having worked in this area for a long time I think we feel a lot more hopeful than we did. I don’t think it will be a single cure. I think there will be lots of different treatments and it won’t just be one answer because there are so many different genes. There’ll be different answers for different types of RP. I think that for some types of RP there may well be some treatments that will be coming in the future. The difficult thing to know is when. Steven Goulden: I do. I’m very positive about that, I think it will happen. I’m hoping it’s going to be in my lifetime but it’s taken a long time to get to this stage so maybe, maybe not. Louisa Lytton: I pray and I ask every day that there is a cure. It’s obviously very hard to say when there will be a cure but I definitely think that there will be. Chandni Sony: I definitely think there will be a cure. It’s a matter of years it may not be one or two it might be ten or twenty but I definitely think there will be a cure for it. David Head: Yes. I definitely do. There will be a therapy or there will be therapies. The uncertainty is over the time scales. But I have no doubt, no doubt at all that therapies, treatments, cures, preventions will all be available in the future. Ruth Walmsley: I think it’s a difficult one to actually say. There’s certainly a lot of research, a lot of progress. Personally I think it will be here, whether it will be in my lifetime I couldn’t say I’d leave that to the researchers. I think the important thing is to keep your finger on the pulse and making sure that you’re aware of what research there is and what’s available but not forgetting to live your life in the meantime. Don’t sit around waiting for a cure because you know you could be wasting so many happy hours of activity and getting involved and really doing things and having a good purpose in the community. > Going blind, that’s what we WERE talking about. I may be blind but I have a vision. Steven’s blind but he has a vision, so does Ruth, so does Chandni. We all do. We have a vision, along with all the other sufferers of RP, a vision for a bright future, a vision for a cure to Retinitis Pigmentosa > fade out > TW: This documentary was directed, produced and recorded by TheBlindJournalist Mohammed Salim Patel. Visit theblindjournalist.blogspot.co.uk for more of his work.