Case studies. Patient case studies. Joshua

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1 Case studies Patient case studies Joshua Joshua is 26, lives in the east Midlands, loves fashion and interior design and has a rare disease, retinitis pigmentosa (RP). RP is the name given to a group of inherited conditions that progressively cause reduced vision and blindness by attacking light sensitive cells in the retina. The form of RP that I have results in a very limited peripheral field and reduced night vision. I don t function too well at night and I suffer from blind spots in both eyes. I really struggle to see in low light; that includes a dimly-lit room, dusk and dawn and when the sun is beginning to set. I have my central vision but I have no outer vision, says Joshua. Joshua was 11 years old when he was diagnosed with RP and at the time he didn t really understand the disease. He continues to be seen at Moorfields, where he got his diagnosis: It s incredibly bittersweet when I m here because it forces me to think about my RP and it s not the most pleasant thing to think about. It also fills me with so much gratitude because I m still able to live a relatively normal life. My appointments are every 12 months, although I have now been told I can attend Moorfields every 18 months because the consultant said my deterioration is incredibly resilient. I m very lucky to say I have not had a lot of deterioration over the years. Talking about how the condition affects his day-to-day life, he says: People always say to me what is it like to not be able to see properly and it s the most ridiculous question in the world because I have never been able to see properly, so there is no comparison. When I sit at a dinner table I consciously move my glass to a point where I know I m not going to knock it over. I know my limits of where I can be on my own or when I ll need assistance from somebody. I work full time, I have a house, I have a partner and in all respects I live a very normal life so living with RP is just built into that. One of the biggest challenges Joshua faced was while he was studying at university and during the winter months found it difficult getting to and from the library. Despite his challenges, he has a positive outlook on life. I know even with my RP there are a million and one people on this planet who are worse off than me and I m just grateful. I m registered as disabled and severely sight impaired and yes I have a blue parking badge but I ve never let it define me and I never will. There are tough times but you still have so much to be thankful for, always count your blessings and don t limit yourself because of an impairment. 1

2 Mr Obaseki There are 60 million people with glaucoma worldwide and Mr Obaseki could have been one of those at very serious risk if he had delayed his visit to his optician and GP. Like many people facing a health problem Mr Obaseki lived with his symptoms for a while and carried on coping with the tension and pain in his eyes which was initially causing severe headaches. When the headaches were no longer relieved by strong paracetamol he took action. Thinking that it might be a problem with his lenses he went along to his optician for a standard eye test. Deep down I knew it was something to do with my cranium but I also thought I probably needed new lenses and would get a test. It was to prove more than a case of new lenses as he soon discovered. The optician referred him back to his GP with the request for a referral to Moorfields at St George s. The cause of his eye problem was raised intraocular pressure and, with a history of glaucoma in his family, he knew he was at risk of the disease. After undergoing the test and a period of review which did not bring about a change in the intraocular pressure, the ophthalmologist confirmed he would need treatment and offered him the opportunity to enrol on the LiGHT study - a five-year research study of 700 patient being led by consultant ophthalmologist Gus Gazzard. It is designed to assess whether laser treatment for glaucoma could provide patients with a better quality of life than traditional eye drops if laser was the first form of treatment offered. Patients are divided into two groups, one is treated with eye drops, the other is initially offered a gentle laser treatment called selective laser trabeculoplasty (SLT) to reduce the pressure. This group will be offered eye drops later as necessary. The quality of life of both groups will be assessed at the start of the study and then every year for three years, using a well-researched questionnaire recommended by the National Institute for Health and Clinical Excellence. Mr Obaseki was selected for SLT. The laser treatment was very quick but it was like being punched in the eyeball. It s very powerful; the results so far are good. My vision has improved and the terrible headaches and tension eyes have stopped. I was very lucky. I will need to be seen every six months. If I had delayed any longer in getting my condition would have been much worse. 2

3 Patient comments Comments: I attended at A&E with a suspected detached retina. I was incredibly stressed and worried before being seen. The wait was amazingly short, well under an hour from entering the building (a bit after 8.30am) to seeing the doctor (and in that time I had already seen a triage nurse and an ophthalmic nurse, who were both great). The doctor was brilliant - took loads of time and trouble to explain my situation and to answer my many questions about future risks and treatment. Excellent, caring, quick and utterly world class service. We are so lucky to have the NHS. (NHS Choices) I had to go to Moorfields for a chalizion removal on my upper right eyelid. I'd had this same operation the previous year overseas in Australia and it was a horrible experience- the anaesthetic didn't work and the doctor was struggling with certain things I was writhing in pain throughout the whole thing and my sister who was sat in the room with me could also see I was in a lot of discomfort- this made me nervous about my operation but the staff were great as soon as I arrived the were friendly and professional and settled my nerves the operation was painless. I was by myself on this day I wanted to give credit to the nurse who operated on me and their assistant thanks very much keep up the good work! :-) (NHS Choices) After an urgent referral from my optician I went to Moorfields where after a few hours of waiting in A&E I was placed with an absolutely fantastic consultant who went above and beyond to make me feel comfortable and was very reassuring. I was so worried beforehand but the consultant completely put me at ease. I was told what was going on, but was also told to come back the next day for a second opinion, demonstrating the level of patient care Moorfields provides. I returned in the morning and the second consultant confirmed to me what the previous one had said but it was brilliant to make double sure and completely put my mind at rest. You can be assured you will be looked after fully at Moorfields and I would highly recommend their A&E department for anybody experiencing eye problems, you will be in the best of care. (NHS Choices) I have recently been discharged from Moorfields having had treatment for CRVO [a retinal disorder]. I cannot praise the treatment I had higher than to say everyone I saw was very pleasant and friendly. I have been coming for the past 3 years and had laser treatment 3 times, and each appointment I have had I have not waited very long and was usually out after about 1 1/2 hours including when I had the laser treatment. The consultant was very nice and friendly and always had a chat about the treatment and my condition and how things were progressing etc. Although it was a busy clinic there was never much of a delay. I would like to thank all the staff and keep up the good work (NHS Choices) I would like to thank my surgeon and the team for looking after me so well, but particularly the doctor who has seen me any time I have needed to... The doctor is professional yet kind caring and always takes time to explain things to me (even if I did muddle my meds up a 3

4 bit )... We are all very quick to complain about our doctors and the NHS but I cannot fault these doctors...thank you... You do a great job (NHS Choices) Friends and family I am grateful of the excellent care and treatment provided, if I have to wait, I wait. It's worth the wait. You all work, immensely hard under exceptionally difficult circumstances, thank you. St George's There would not have been anything made better than the treatment I have received, thank you Darent Valley I work in the heart of the city and each time I come here it is like a breath of fresh air seeing such dedicated carers who add so much meaning and value to people's lives, I am always amazed at the quality of the care available. CR Medical Retina All of my visits have been extremely efficient and all staff have treated me with the utmost consideration, they have all been very friendly, helpful and polite, I would always suggest Moorfields to anyone with eye problems Each time I attend I get the best service and treatment I would not like to go anywhere else CR External disease Those who would recommend the trust: February 2016 The overwhelming number of comments were positive with 168 mentioning specific staff by name. A word search highlights the most frequently used words, suggesting why patients would recommend the trust in February. 4

5 Research case studies The London Project pioneering new trial A pioneering trial of a new treatment derived from stem cells for people with wet age-related macular degeneration (AMD) started at Moorfields with a successful operation on a patient in August The first operation is a major milestone in the London Project to Cure Blindness, which was established 10 years ago with the aim of curing vision loss in patients with wet AMD, and is the result of a partnership between the hospital, the UCL Institute of Ophthalmology, and the National Institute for Health Research (NIHR). Pfizer Inc. joined the partnership, in 2009, with the goal of helping to turn the original idea into a potential therapy. The trial is investigating the safety and efficacy of transplanting eye cells (retinal pigment epithelium) derived from stem cells to treat people with sudden severe visual loss from wet AMD. These cells are used to replace those at the back of the eye that are diseased. This is done using a specially engineered patch inserted behind the retina in an operation lasting one to two hours. The trial will recruit 10 patients in total over a period of 18 months. Each patient will be followed for a year to assess the safety and stability of the cells and whether there is an effect in restoring vision. There is real potential that people with wet AMD will benefit in the future from transplantation of these cells. 5

6 International study reveals new genetic clues to age-related macular degeneration An international team of scientists including consultants from Moorfields and researchers at UCL s Institute of Ophthalmology have identified 13 new genetic factors linked to the risk of age-related macular degeneration (AMD), a leading cause of vision loss among people age 50 and older. The new findings widen the understanding of the biological processes that lead to AMD and could identify new therapeutic targets for potential drug development. According to the research results, which were published in the journal Nature Genetics on December , a study of 43,000 people identified 13 new regions of the genome called loci that influence the risk of AMD. Worldwide this increases the number of known loci to 34. The study s principal investigators at Moorfields and UCL were Professors John Yates and Tony Moore supported by genetic statistician Dr Valentina Cipriani, from the Institute of Ophthalmology and the Biomedical Research Centre based at Moorfields. Professor Yates said: Thanks to researchers from around the world pooling their resources and working together, exciting progress has been made in our understanding of the role of genetic factors in AMD. Identifying genetic variants that influence the risk of being affected by AMD helps us understand the causes of this serious condition and could contribute to the development of new treatments. Professor Moore said: The study contributes to a greater understanding of what could make potential future treatments work. For example for the first time the researchers involved also identified a variant specific to the neovascular form of AMD, which may point to reasons why therapy for this form of AMD is effective for some people but not everyone. 6

7 The 100,000 Genome Project Moorfields is one of six trusts participating in the 100,000 genome project which hopes to develop personalised medicine with the aim of treating rare diseases and cancer. A genome is one whole set of a person s genes, plus all the DNA between them. There is a copy of the genome in almost every cell of the body and it is the instructions for making, running and repairing everything. Genes account for less than 5% of the genome. It used to be thought that the rest of the DNA was junk but now we know all of the genome is important. The 100,000 Genome Project aims to sequence 100,000 whole genomes from about 70,000 people. Sequencing means reading all three billion DNA letters in a genome one by one. Research has shown that every letter counts. Moorfields is part of the North Thames Genomic Centre which comprises six trusts: Barts Health; Great Ormond Street Hospital; the Royal Free London NHS Foundation Trust, North London West Healthcare and UCL Hospital NHS Foundation Trust. We treat rare and inherited retinal conditions and are now recruiting about 100 patients a month as part of our commitment to recruit 2,200 genomes for the project. Participants are NHS patients with rare disease plus their families and patients with certain types of cancer. With their consent, their genomes will be sequenced and linked to details about an individual s medical condition. Doing this may help medical teams provide better diagnosis or treatment. But it may not because not enough is yet known about the meaning of all the genomic data. By adding key information from medical records and putting all the data in one highly secure place, scientists can compare the data from tens, hundreds or even thousands of people with the same condition. Allowing approved scientists to have monitored access to this data is a very powerful way to understand the causes of ill health and how to treat it. Project aims: Improving care for patients: Some patients with rare disease may get a diagnosis for the first time or discover what treatment might work best. Setting up an NHS genomic medicine service: By the time it finishes, this project will have put everything in place to enable the NHS to offer genomic medicine to those patients who need it. Genomic medicine will mean personalised treatment for patients. For future generations: By looking at all the 100,000 Genomes Project data, scientists will gain new insights and understanding about the causes of disease and find better ways of helping patients, especially those who have conditions that are currently hard to treat. To kick start a UK genomics industry: Participants generously agree that researchers from industry such as pharmaceutical companies can look at their data. This is the best and quickest way to ensure that understanding from the project is turned into new medicines and diagnostics for patients. It will also help establish new jobs and companies in this important field in the UK. 7

8 The project is being run by Genomics England, a company wholly owned by the Department of Health. Genomics England is working together with NHS England, Health Education England and Public Health England to deliver the 100,000 Genomes Project. NHS Genomic Medicine Centres have been set up across the country to recruit patients, take the samples and provide medical information to the project. 8