At the conference
The morning started with a well-attended and insightful keynote speech from Professor Dame Sue Hill, Chief Scientific Officer, NHS England. The topic was: The NHS Lays the Foundation to Enhance Their Long-Term Strategy. Some of the areas Dame Sue Hill discussed were harnessing technology to address gaps in care quality, inequalities and sustainability; improving outcomes through personalised medicine; the transition to future care; challenges in delivery; the evolution of NHS genomic testing and the ongoing development of NHS genomics.
I also attended a panelled discussion on The Role Patients Play in Controlling Their Own Health and Care. The Moderator was Dr Anna Middleton, Chair, Association of Genetic Counsellors and Nurses.
The panellists were:
The discussion centred on genomics testing and the ethical implications for patients, their families and how data is used and shared. The panellists talked about the importance of empowering patients, that they know how their data is used, and that they understand the risks and benefits of testing.
One of the panellists, Dr Jillian Hastings Ward, was enrolled along with her husband and son in the 100,000 Genomes Project. For the first few months of their son Sam’s life he appeared to be in good health, however his parents noticed he wasn’t making visual contact and they found out that he was blind. They also learnt that he wasn’t progressing intellectually.
After his diagnosis they were told about a pioneering scheme, the 100,000 Genomes Project. The sequencing of 100,000 genomes of individuals affected by rare disorders or cancers. The family took part and their DNA was sampled, each of their genomes, their entire complement of genes were then sequenced. They found that Sam had a fault in the gene Grin-1, which is a rare mutation that causes moderate to severe intellectual disability, low muscle tone, and in some cases seizures.
Hearing from someone in the medical profession with their own personal experience of a rare condition it struck me that so many people in the UK and in deed across the world have been touched in some way by a rare condition. A conference like this brings people together to share their experiences, and through collaboration, knowledge and experience we can empower individuals, making them feel less isolated, in the knowledge that there are others out there, who although do not necessarily have the same condition, are going through similar experiences and frustrations. It also helps to build a healthcare service that better services the patient and advances the care and treatment available to us all.
The Albinism Fellowship is a charity that represents people with albinism living in the UK and Republic of Ireland. This year the charity celebrates its 40th anniversary.
Four years ago the Fellowship recognised it wasn’t doing enough to engage with people from black and Asian communities who have albinism. They began a new project and mission to improve support for their diverse community to become more inclusive.
How the Albinism Fellowship has been increasing black, Asian and ethnic minority ‘BAME’ diversity
The Fellowship’s Trustees recognised that the challenges faced by this section of the albinism community can sometimes be more intense than those faced by white people who have albinism; for instance, they have found these groups are increasingly likely to face prejudice, stigma and a lack of understanding from within their own communities.
This led the charity to focus efforts on following-up with contacts from black and Asian families. Trustees of the charity made efforts to meet face-to-face with people wherever possible and to really encourage them to come along to events.
There are now two parents of black and Asian children with albinism on the board of trustees, which has helped the charity to plan and be more inclusive to all members of the community. For example, it resulted in a family BBQ date to be planned around Ramadan, a time when many of the families would be fasting.
The Fellowship also used a large-one off donation to fund bursaries allowing families to attend the Fellowship’s residential conference in Derbyshire in 2017. This meant more black and Asian families were able to participate than ever before.
Another change was to the Albinism Fellowship’s basic information leaflet on albinism, which included incorporating new images from a diverse range of ethnic groups.
Grant funding from Breaking Down Barriers (BDB)
The charity is proud to have successfully applied for a £5,000 grant from BDB. BDB aims to strengthen the ability of patient organisations and support groups to develop supportive and inclusive services for individuals and families affected by genetic disorders, and to ensure that appropriate and accessible information is available. If you are interested in joining Breaking Down Barriers, or would like more information, visit the their website here.
The BDB funds will continue to help with the work and mission to improve the support provided for the Fellowships diverse community. It will go towards improving the Albinism Fellowship's website, to include a much better visual representation of the diversity of families and groups within the albinism community.
Adult & Family Weekend Conference 2019
Looking ahead to October 2019, when the Albinism Fellowship will be holding their next family and adults with albinism conference, the BDB grants will allow more people from the BAME community to attend. The Trustees are planning at least one session at the conference to be specifically aimed at black and Asian families. This will be run by two members, one from a South Asian background and the other an African background, both of whom have children with albinism.
Continuing to break down barriers
To increase awareness about albinism for people from black and Asian communities, as part of Jeans for Genes Day in September 2018, fellow member Precious and her family, from London, carried out a number of media interviews to explain what it is like to live with albinism. The Albinism Fellowship were incredibly grateful for the great work they did in helping to raise awareness.
An exciting future plan includes commissioning a short information and publicity video to raise awareness about the issues people in the BAME community with albinism face, and the support that the Fellowship can offer them. When the film is complete, the charity aims to use its large Facebook community and other social links to share the video and get the message out there of the support they can offer.
If you would like to know more about the Albinism Fellowship then please visit their website here.
Katrina Brooks aka Katty created her website Kattysterritory.com
about herself and living with Lupus
What is Lupus?
It's been ten years since Katty's diagnosis of the condition that makes the immune system misbehave and can affect any part of the body, it can be life threatening. Lupus is considered as a more common rare disease, but it is quite rare for children to be diagnosed with it.
Like many less known conditions Lupus can be hard to treat, and because many of the symptoms cannot be physically seen, often young people like Katty with Lupus (and other invisible illnesses), feel like they are ignored and disbelieved due to the lack of physical signs of being unwell. It can be really hard coping with any long-term illness, but one of her aims is to raise awareness and share her experiences so that she can help other people.
Living with Lupus as a child and young person
Creating her website has given her an outlet to describe her experiences and living on her terms with Lupus, it has also given her a platform in advocating and raising awareness for young people living with long-term health conditions.
Katty talks about when you have any long-term illness needing your family, doctors, school, and other agencies to work with you to make sure you remain well. But even more importantly is making sure that you have a voice, and any decisions involve
you. Sometimes this is easier said than done, particularly when you are a child!
Often as a child growing up she found her voice wasn’t heard. Everyone focused on making her better, whilst Katty understood that it was for her benefit, at times it didn't feel like that. As she became a teenager she began to feel more in control because questions were directed to her. Katty felt more confident to say 'no' to things she wasn't happy about with encouragement from the people closest to her.
To share her experiences, Katty is also involved in Great Ormond Street Hospital's young peoples forum (YPF), which helps to influence and shape the services they provide. Katty is actively involved in various Patient Participation and involvement projects, in an aim to represent a young patient perspective in developing and delivering NHS services. Katty writes articles for Lupus UK, the national organisation for patients and families affected by Lupus. She admits that this work can be tiring as she has chronic fatigue, but knowing she can make a difference makes her continue.
For more information
Visit Kattyterritory.com to find out more
Katty was featured in issue 008 of Rare Revolution, read the article here
My life motto is: Accept what you can’t change, change what you can, you are more than your situation. Chase you’re dreams no matter how much your reality changes, if its impossible divert and not give up just change your approach. Everything happens for a reason and god would never let go through anything he knows you can handle. Challenge yourself push your limits.
What are Ehler's-Danlos syndromes?
EDS are a group of rare inherited conditions that affect connective tissue. Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs and bones. There are many types of EDS that can share some symptoms including: an increased range of joint movement (joint hypermobility); stretchy skin and fragile skin that breaks or bruises easily.
The different types of EDS are caused by faults in certain genes making the connective tissue weaker. Depending on the type, the faulty gene may have been inherited from either one or both parents. It is also not necessarily inherited and can occur in a person for the first time.
EDS can affect people in different ways. For some, the condition is relatively mild, while for others their symptoms can be disabling. Some of the rare severe types can be life-threatening. Symptoms commonly include, but are not limited to, long-term pain, chronic fatigue, dizziness, palpitations and digestive disorders. Such problems and their severity vary considerably from person to person.
Nthabeleng's journey with EDS
Nthabeleng's dreams never involved always being in hospital, wondering if she would be walking tomorrow or suddenly need to rely on a wheel chair. "I look perfectly normal to a naked eye, yet people with EDS can deal with immersive chronic pain".
Due to the lack of knowledge and under diagnosis of EDS worldwide and in particular in Africa, (Nthabeleng lives in Lesotho), her dream became to educate and help bring awareness of this disease. After suffering for more than five years of misdiagnosis and receiving little or no support, it became clear to her she wanted to help educate and raise awareness of this disease. In Lesotho there wasn't enough being done to help those with EDS live a better life and minimise the pain.
Nthabeleng discusses how the health system in Lesotho does not support those with a rare or invisible disease, and that the nation as a whole needs more education about rare disease, for example, that there is no cure for many of these conditions, but the method and way they are managed can increase the life span and improve the quality of life for those living with a rare condition such as EDS.
Rare Diseases Lesotho Association (RDLA)
RDLA is a non-profit organisation, registered in October 2017, its vision is to revolutionise and raise awareness about rare disease in Lesotho through collaboration with the communities of patients, caregivers, healthcare providers, researchers and supporters to transform the lives of those living with rare disease.
The organisation assists patients affected by rare disease to access treatment and support, including finding ways to access financial assistance. They aim to work with the government, educational institutions, health institutions and with regional and global partners to assist people with a rare disease.
Nthabeleng's drive and passion to educate and raise awareness has led her to speak at health conferences both at home and internationally. She hopes to motivate those around her to live their dreams and follow their ambitions, pushing boundaries and stereotypes.
Following on from their conference in May 2018, the European Health Innovation Collaborative (EuHIC) have put together a report on the findings from the conference. The 2018 conference Putting Patients First was born from the tendency of medicine to approach things from an academic point of view and neglecting patient perspectives, leaving patients feeling alienated and unable to join the conversation.
The multi-discipline, not-for-profit conference focused on gaining the perspectives of patients, patients’ families, carers, patient organisations, healthcare professionals, and representatives from across pharma and academia.
The enlightening sessions, were delivered by a host of speakers, including being opened by the EuHIC presidents Richard Stephens and Achim Kautz. Former BBC presenter Roger Wilson also delivered a short video. These sessions sparked debate across an array of topics and focused on bringing the patient onto centre stage, highlighting the value of patient-centric, participatory medicine.
The topics covered included:
• Let's talk: better communication in healthcare
• Harnessing patient experience in science, healthcare and policy, and the value of patient collaboration
• Patient perspectives on managing chronic disease
• Common frustrations of patients and doctors
• Palliative care and the psychology associated with coping with illness.
A key message from the conference
The conference provided a platform for productive debate on patient-centric participatory medicine, taking into consideration the views of representatives from every corner of the healthcare spectrum. A topic that was raised frequently was the importance of patient-doctor communication. Both parties can derive great benefit from frank and open discussion during consultations.
A topic that sparked great debate was patient involvement in medical science and practice. Industry and healthcare providers alike would gain from working closely with patients at all stages of developing medical guidance. It was highlighted that the patient's voice is an untapped resource of colossal significance. Future developments in healthcare would benefit from the medical community paying close attention to the voice of the patient.
London and Berlin 2019 Patient heal thy self conferences
The second patient-orientated conference will be in London on 16 May and Berlin 22 May. The programme will comprise of a series of short presentations. The overall title is 'Patient heal thyself'. The thinking here is that the health system has finite resources and patients need to take responsibility for their well-being, be it by optimising interaction with doctors, symptom management, mental health, nutrition, exercise etc.
The day will be broken into four 90 minute blocks and further subdivided into 30-minute sessions (to include a final keynote address). Dr Adrian Tookman (Clinical Director, Marie Curie) will be the Physician, President.
A short film providing the highlights of Putting Patients First, May 2018 can be found here. (18th May 2018) here.
It all started 5 years ago when I began with awful symptoms of an unexplained chronic pain/burn inside my vagina. At first I thought it was a yeast infection, but after several studies that indicated there was no bacteria or anything that suggested a normal infection, I began to worry deeply. At one point, a very well-known gynaecologist in Mexico City (my hometown), told me that it was all in my head and that there was nothing wrong with me. “Ok, so now I’m going crazy?”, I said.
Looking for answers and self diagnosis
After two years of searching for doctors and specialists in Mexico, after spending all this energy, time and money, I gave up completely. Pretty much hating everything and everyone in my life. I swear to god that if one more person told me if I’ve tried alternative medicine or essential oils, I was going to hunt them down. It’s really a no brainer, of course I’ve tried EVERYTHING!
One day I was watching an episode of Sex and The City where I heard for the first time the term Vulvodynia. In that episode Charlotte was diagnosed with it, and she mentioned about it at brunch with the girls. I remember all four of them laughing, not taking the matter seriously, and, the worst part was when Carrie asked Charlotte if it hurts, and she said no. I have nothing against the show, in fact I’m a huge fan, but I was extremely disappointed how they addressed a serious medical condition. Not only does it hurts like hell, sometimes you can’t even sit down because anything that puts pressure on the vulvar area aggravates the pain.
When I googled about Vulvodynia I started extensively researching the subject, it was like seeing the light at the end of the tunnel.
So, what exactly is Vulvodynia?
To put it in simple words it's vulvar chronic pain with no known cause. It is persistent, unexplained pain in the vulva (the skin surrounding the entrance to the vagina). It can affect women of all ages and can occur in women who are otherwise healthy. Vulvodynia can be a long-term (chronic) problem that’s very distressing to live with, but much can be done to help relieve the pain.
Everything suddenly made sense, and it was such a relief to know that I wasn’t crazy and that there are in fact doctors who know about it, specialists that are investigating and researching on how to find better and new treatments. However, these special people were not in Mexico at the time, they were in the US.
My diagnosis and living with the condition
Luckily I was able to go to Florida and meet with incredible physicians. A gynaecologist specialised in vulvology and a team of pain management specialists as well. I started my treatment immediately with hope and positive vibes, even though from the beginning they told me that there are no guarantees. Not every treatment works the same, every woman is different, every body functions different. It might not work at all for some women. In my case some worked and some didn’t. It’s been five years and I’m still struggling with the pain, sometimes it gets better and some days I can’t even get out of bed.
The value of information
What keeps me going is the fact that I have more information now, and the fact that there are many women suffering from this as well. I’m not alone. I’m still seeing the doctors in Miami and I found a gynaecologist in Monterrey, Mexico. I also work with an acupuncturist, and I tried physiotherapy. There are certain tricks and home made hacks that help me at rough times, like coconut oil as personal lubricant. Hot or cold patches help to soothe the area and keep your mind off the pain. Essential oils work sometimes, magnesium for muscle spasms is great and eating an irritant free diet is very helpful. Breaking up with sugar is something to really think about.
Sex can be challenging, I’m not going to lie, but it’s not impossible. At the end of the day, one only needs a loving, caring and patient partner. Communication is key. If there is one thing that I’ve learned it is to listen to my body and we all know that there are other ways to give and receive pleasure.
What I’ve come to realise from this challenging journey is that the more I try to hide it or resist it, the more I try to pretend that I’m ok, the worse it gets. So, that’s why I’m breaking the silence, I’m making peace with the pain. I know the pain is there, I acknowledge it, and I’m letting it go.
I can proudly say that I’m the first advocate for Vulvodynia in Mexico. I started an Instagram account to raise awareness, let people know that this is real, it’s a real condition and a lot of girls and women are battling with it. I invite you to follow my story through @peacewithpain, a safe platform that aims to support other women, even if they only need to speak up and be heard.
Important things to know about Vulvodynia
Rare Revolution Editor