Empowering Rare Disease Patients
Small Numbers, Large Impact: Empowering Rare Disease Patients
Sight loss and visual impairment can negatively impact people’s quality of life in far-reaching ways, including their personal, professional and social lives. It can influence their ability to carry out activities of daily living, to do their job and to pursue interests. Addressing this burden through the identification of treatments or preventative measures is particularly challenging due to the vast number of sight loss conditions. A proportion of these eye conditions are rare diseases that individually affect fewer than five per 10,000 of the population, but collectively have a highly significant impact. However, the relatively small number of patients diagnosed with each individual rare disease often results in their needs being poorly met and being poorly represented within national and international initiatives to raise awareness of sight loss.
It is said that out of adversity comes opportunity, and many patients affected by a rare disease have been driven to improve circumstances for themselves and others with their condition.
Please click on the tabs above to find out how the NIHR Moorfields Biomedical Research Centre have supported the following rare ophthalmic conditions:
1. Birdshot Uveitis
2. Acanthamoeba Keratitis
3. Leber Hereditary Optic Neuropathy
5. Stargardt Disease
The incredible stories on these pages demonstrate the powerful impact that patients can have when encouraged and enabled to raise their voices, building greater awareness of their needs and ultimately influencing the delivery of more patient-centred research and services. The great progress they’ve made has, and will continue to, improve the horizons of others with their disease.
The Zebra Makeover!
On Rare Disease Day, the NIHR Rare Diseases Translational Research Collaboration held a 'Zebra Makeover' activity to highlight the thousands of rare diseases which, although individually rare, together affect the lives of some 3.5 million people in the UK. The activity was based on the fact that an individual zebra’s stripes are as unique as a person’s DNA.
'Everyone knows a zebra can’t change its spots…but how about giving one a fabulous multi-coloured makeover for Rare Disease Day.'
As an organisation, the NIHR Rare Diseases Translational Research Collaboration focuses on the causes, impacts and treatment of rare diseases, of which there are about 7,000 inherited varieties, half of whose genetic basis is yet to be discovered.
Staff at Moorfields Eye Hospital, City Road held this activity at a number of clinics across the hospital on the day, inviting patients and members of the public to give their own zebra a makeover! A selection of the zebras that were given their own stripes and created by people of all ages at our hospital, can be seen in the slide deck below:
If you would like to give a zebra a makeover, please click on the links below for materials and instructions.
Zebra poster with cutout.pptx
Making zebra stripes guide.pptx
Rare Disease Day leaflet.pdf
For more information about how the NIHR Moorfields Biomedical Research Centre has supported Rare Disease Day in previous years, please click on the 'Related Links' listed in the left hand column of this webpage.
Birdshot uveitis: putting a new disease firmly on the map
Birdshot Day - Living With Birdshot Uveitis from NIHR Moorfields BRC on Vimeo.
Birdshot uveitis, also known as birdshot chorioretinopathy, birdshot retinochoroidopathy or simply referred to as birdshot, is a rare eye disease thought to be caused by an autoimmune response, though the exact trigger is still unknown. It is a chronic disease characterised by intermittent periods of inflammation within the eye which impact vision, and if uncontrolled can lead to blindness.
Birdshot is a relatively new disease, first discovered in 1949 and only recognised as 'birdshot' in 1980. The relative lack of knowledge and awareness of the disease has led to it being frequently misdiagnosed and to a severe lack of information and support for patients.
The Birdshot Uveitis Society
Compelled to do something to improve awareness, information and outcomes for people with the disease following their own diagnoses and personal experiences, Rea Matthews and Annie Folkard, established the Birdshot Uveitis Society (BUS) in 2010.
Rea and Annie connected with clinicians from our BRC and others in the UK and arranged an event attended by 100 people (including patients, clinicanns and researchers). We offered guidance on structure, content and evaluation of the event to help provide a forum where patients could share their stories of living with the disease, the challenges they face and their main priorities for the future.
BUS memebrs and their familieis have been determined, working tirelessly to implement their ideas and grow a movement which has gone from strength to strength. The key objectives of BUS were to support people with birdshot, build a community for them, provide information for patients and clinicians and raise the profile of the disease. They have achieved this and much more.
This event, named the ‘Birdshot Day’, was held in September 2010 and was the first of its kind for this condition. BUS worked with the BRC to write up the evaluation of the day and the paper was published in the British Journal of Ophthalmology.
The evaluation demonstrated the huge success of the event which resulted in:
- Increased patient and professional education and support
- Reduced feelings of isolation amongst patients, and increased reassurance through learning of their shared experience of treatment side effects
- Opportunities to connect with patients within the same geographical region, which led to the formation of local self-help networks throughout the UK
Patient insights from the day were invaluable in providing direction for future research, including some unexpected results. Clinicians had assumed that patients’ main priority would be finding a solution to the treatment side effect, as while treatments are highly effective their side effects are often very debilitating. However, the patients prioritised identifying the cause of the disease, due to their concern for their families and future generations.
A challenge faced by clinicians wanting to research birdshot is the lack of a large patient population. Born out of discussions on the day and patients’ enthusiasm to be involved in research, clinicians and patients came together to launch the National Birdshot Research Network. The network’s aim is to ensure that research is aligned with the patient priorities identified at the first Birdshot Day and to engage in national research initiatives to represent the voice of birdshot patients. Expanding its sights, the initiative is now building a National Birdshot Biobank, a centralised bank of clinical data and biological samples of people with the disease. This will help to accelerate research by overcoming the obstacle of small patient numbers. A partnership between BUS and Fight for Sight has also created a joint research grant totalling £15,000 to further encourage research into this heavily underfunded area.
Since the inaugural Birdshot Day held by BUS in September 2010, subsequent events held in 2012 and 2015 have attracted around 260 patients in addition to many family, friends and healthcare professionals; with the organisation’s membership doubling to 320 during this timeframe. Many of these members are located across the globe, travelling to the UK to attend these events – such is the impact and value in accessing information and connecting with others living with the disease. Through collaboration with other stakeholders, BUS has also amplified its voice, joining forces with organisations such as Rare Disease UK to contribute towards the UK’s rare disease strategy, which plays an important role in access to treatments.
A questionnaire measuring the disease’s impact on quality of life was completed by attendees of the third Birdshot Day in 2015. The results provided quantitative and qualitative data to further influence research, and highlighted multiple areas for improvement across service provision, professional education, faster diagnosis and support and advice in managing side effects.
From its beginnings, with just two highly motivated patients, BUS has emerged and grown into an influential movement with global reach. It is driving disease awareness and research opportunities to advance understanding and improve future outcomes for patients with the disorder.
More about Birdshot uveitis.
Acanthamoeba keratitis: no water!
In October 2014, the BRC held a Cornea Day which brought together patients, researchers, nurses and clinicians to ascertain their aspirations for future research. Amongst the attendees were people with acanthamoeba keratitis (AK), a rare infection of the cornea caused by a microorganism found in soil, air and water. This severely debilitating disease can lead to blurred or double vision, pain and even loss of vision. Contact lens wearers make up almost 85% of those infected. They are at particularly high risk due to the possibility of the organism being transferred to the eye when contact lenses are exposed to non-sterile water. This can occur through cleaning contact lenses with tap water or wearing them in the shower or while swimming, amongst other routes.
The following film includes a series of short interviews with patients discussing their experiences of the symptoms and diagnosis of acanthamoeba keratitis:
AK patients at the Cornea Day expressed a desire to identify and develop ways in which people with the disorder could be better supported. The BRC provided guidance and venue space to support these patients along with nurses and research clinicans to deliver a series of dedicated AK focus group meetings, a first for this disease. These on-going meetings, the latest of which was held in September 2016, have each brought together around 30 patients, friends, relatives and carers alongside researchers and clinicians.
A key driving force of the group is Irenie Ekkeshis. Her dedication, and that of research optometrist Nicole Carnt and the wider group, has led to impressive progress in increasing awareness of the disease and its risk factors, and educating people on preventative measures.
The achievements from people in the group included development of a patient-friendly information leaflet produced to provide comprehensive details of this rare condition.
The group were also involved with the development of informative videos to warn against the use of non-sterile water and provide instruction on the correct way to clean and wear contact lenses. The videos formed the basis of an awareness campaign for ‘Freshers Week’, the first week of university for new students - a group of people at particularly high risk due to their contact lens care use.
There are currently no approved medications to treat AK. Some anti-infective medications used to treat other infections are used outside of their licensed indication with AK patients, and there is some evidence that this is effective, but due to the ‘off-license’ nature of this use it has been challenging to accurately analyse their true efficacy.
To contribute towards progress in finding a treatment for AK, this AK group are engaging with The Orphan Drug for Acanthamoeba Keratitis (ODAK) project. This project consists of a group of six companies and organisations across Europe that are funded by the European Union to research, develop and secure licensing approval for a safe and effective treatment for this rare infection. In addition to providing insights to guide the research, the patient information leaflet developed by the AK patient group is hosted on the ODAK website in different languages to further expand awareness.
Irenie has also developed a ‘no water’ sticker designed for use on contact lens packaging. The sticker aims to alert users to the risks of using non-sterile water with lenses. Irenie’s subsequent work to encourage manufacturers to use such informative labelling has resulted in use of the sticker in multiple countries across the globe, and the British Contact Lens Association (BCLA) has produced its own ‘no water’ stickers. The importance of Irenie’s work was acknowledged at the Vision Pioneer Awards where she won ‘Campaign of the Year’ for this awareness raising initiative.
Through the drive and determination of the AK focus group, people around the world will be better informed and prevented from suffering this largely avoidable infection.
More about acanthamoeba keratitis.
Leber Hereditary Optic Neuropathy
Leber hereditary optic neuropathy: building optimism and hope
Leber hereditary optic neuropathy (LHON) affects people in young adult life with the development of painless loss of vision in both eyes. People are usually without any symptoms until they develop blurring of the central visual field in one eye, followed by similar symptoms in the other eye an average of two to three months later, although it can occur in both eyes simultaneously. The disease ultimately results in severe loss of vision to a point where the person cannot read the top letter of the eye chart but may be able to count the number of fingers on a hand held up by someone sitting in front of them. By this point people with the condition qualify for registration as legally blind.
Starting out as a voluntary organisation, the LHON Society now has charity status to better equip them to help greater numbers of patients.
Having assisted and collaborated with many patient groups, the BRC were well placed to help the Society with making early steps in better connecting with their membership. In October 2015, the BRC provided space for the LHON Society to hold their first Annual General Meeting (AGM) alongside the BRC’s Retina Day event.
Following on from this, Patrick Yu Wai Man, an honorary Consultant Ophthalmologist researching LHON at Moorfields Eye Hospital, arranged a meeting to provide patients with details of his research. In preparation for the meeting he learned that the LHON Society, that had so far focused primarily on lobbying for more research into the condition, were keen to do more to engage LHON patients. Working collaboratively, the clinician and the Society developed what became the first LHON Society patient meeting, funded by the BRC. This milestone event was the first time that the LHON Society had spoken directly to its members and wider patient group. It was also a hugely valuable experience for patients who expressed:
- The positive effect of meeting other people with their condition, often for the very first time.
- The value gained from hearing other patients’ inspirational stories, and the coping mechanisms they use to overcome daily challenges and lead active and productive lives.
- The hope for the future ignited by their new awareness of research being undertaken.
At this LHON event, the BRC facilitated the incorporation of representatives from the Birdshot Uveitis Society and Fight for Sight, who presented their key learnings on building a patient community and influencing change. They also provided examples of the significant achievements made possible by mobilising patients and working collaboratively with other organisations - even in the field of rare diseases when patient numbers are relatively low. The informative session sought to instil a feeling of empowerment amongst the LHON Society and LHON patients.
The LHON Society is steadily progressing its mission and through its website provides a voice, information and a community for patients with this life-changing condition.
More about Leber hereditary optic neuropathy (LHON).
Blepharospasm Day 2015 - What is blepharospasm? from NIHR Moorfields BRC on Vimeo.
In 2015, the NIHR Moorfields BRC hosted an event for patients, relatives, friends and healthcare professionals to learn and ask about Blepharospasm. This is a condition which is characterised by uncontrolled contractions of the muscles around the eye. At this event, attendees had the opportunity to:
- Meet researchers and clinicians who specialise in this field and ask them questions
- Discuss and share experiences of living with blepharospasm
- Find out how to get involved in research, patient groups and fundraising opportunities
- Hear about and discuss current research, how research could be used and how to influence future research priorities.
The talks and discussions from the day were filmed and uploaded on our Vimeo patient hub.
To access the Blepharospasm Day video album, please click here.
The feedback from the event suggested that this was the first time for many of the attendees to discuss their condition with specialist clinicians in a non-clinical environment and to also meet other patients with the same condition.
The outcomes of the event included asking patients what they would like to see answered by research. All of these research priorities have been recorded and will be published in a 'Blepharospasm Day' paper which will also highlight the other key successes of the day.
Another major success of the day was our patient panel discussions. The day's agenda included talks from four patients with different severities of blepharospasm who presented and discussed their diagnosis stories, the impact of the condition on their lives and their thoughts on the current treatment options available. These discussions included questions from the audience which were very insightful to both patients and clinicians attending the day.
From these discussions at the Blepharospasm Day, a number of patients have since set up their own group called the 'Blepharospasm Steering Group'. The key accomplishments of this group to date include:
- Building a relationship with the Dystonia Society and helping them shape support for patients diagnosed with blepharospasm. Blepharospasm is the second most represented condition within the society.
- Developing a Blepharospasm Steering Group paper, highlighting what the group have accomplished and what they hope to achieve in the future.
- Fundraised £7,500 for blepharospasm research which has since been matched by Fight for Sight via their Joint Small Grant Awards Scheme. Fight for Sight are the UK's leading charity in eye research and were present at the event also. This blepharospasm small grant award at Fight for Sight will be inviting research applications later this year.
On Saturday 18th March 2017, the NIHR Moorfields BRC held a patient event for another rare condition called Stargardt disease. Stargardt Day was inspired by our conversations with and enquiries from people with Stargardt disease, their families and supporters. Through these dialogues, it has become apparent that many people affected by Stargardt disease were not aware of where to go for help and support, were unaware of the research being conducted for the condition and that many people had never met anyone else with Stargardt disease.
In preparation for the day we were in partnership with a panel of patients and relatives to make Stargardt Day relevant and meaningful for those attending. We aimed for this day to provide an opportunity for those affected by Stargardt disease to:
- meet one another and share both experiences as well as hints and tips for daily living;
- find out about the condition and some of the research being undertaken to address it from researchers and clinicians from UCL Institute of Ophthalmology and Moorfields Eye Hospital;
- discuss what people feel should be the priorities for the future, with the opportunity to share these with clinicians, researchers and charities supporting people with Stargardt disease and their families.
All of the presentations and content from the day are available by clicking here.