Are you looking for a new opportunity in 2021? Look no further! We're recruiting for a RARE youth internship
As part of our long-term commitment to the RARE youth community we recently announced our plans for our Illuminating RARE Talent global intern programme which will be rolled out in 2021.
The first step toward this we are thrilled to announce is that we will be opening up an opportunity for a full-time paid, one-year Youth Intern position here at RARE Revolution Magazine into the role of youth coordinator.
We are looking to recruit a young person of exceptional passion and talent from within our RARE youth community, aged 18-30 to join our team.
The successful applicant will receive excellent on the job training from our small but passionate team and will be an essential cog in driving forward the RARE Youth Revolution.
If you would love to work for a world leading not-for-profit publication and be part of empowering children and young people in the rare disease community to have their voices heard, then this might be the opportunity for you.
For full details and job description and to find out how to apply please email Catherine de Vaal: firstname.lastname@example.org
Application deadline 5pm 5th February 2021
Kara LaFrance is an avid artist, graphic designer and rare disease advocate for acromegaly. We are proud to welcome Kara as the final writer in our deeply moving and insightful “Reflections on faith and spirituality'' #SundaySessions series. Kara is rounding up this topic, reflecting on her faith in Catholicism. She explains how her strong unwavering commitment to God and the Catholic practices has helped her manage her rare disease diagnosis of Acromegaly and inspire her as an artist. Kara shares how a chance encounter-turned great friendship with retired priest Fr. Andy, helped to support her times of need.
Faith is a gift… It is your choice to accept this gift from God. He never takes it away; you merely have to accept it.
As a cradle Catholic, I have blind faith. I have never doubted. I am logical, practical and level headed. Prayers are always answered. We just may not like the answer. “No“ is an answer. God‘s time is not necessarily our time.
Catholics are not known for quoting the Bible at random. I prefer saints. Not quoting them but knowing them. Saint Mother Teresa of Calcutta—her truth that was unknown during her life was her spiritual dryness and blind faith. In her book “Come Be My Light” you find a prayer that she “forged in the depths of her darkness. ‘Take whatever He gives and give whatever He takes with a big smile’ total surrender, loving trust and joy.”
My Journey has been long and it is never ending. Doctors’ arrogance and ignorance 20+ years ago is coming full circle as my body deteriorates and no one has any answers. No one is even looking. Acromegaly is diagnosed late. There is no early diagnosis because no one is looking there either. Of the 7k+ rare diseases it is a blessing to have one with treatment. But after all treatment is said and done, crippling pain is getting worse—acromegaly specialists can only say that they know I am in crippling pain, and simply sorry. Only this year, a study began by gathering quality of life information for patients like me, where all treatments have been completed. I am in “technical” remission yet I continue to deteriorate. One study, one hospital, information gathering only.
Suffering, pain—failure—is but a kiss of Jesus, a sign that you came so close to Jesus on the cross that He can kiss you—so my child be happy… Do not be discouraged… So smile back...
What’s faith got to do with it? God gave me the gift of faith but he also gave me strength, tenacity and a voice—the roar of a lion with an added gift of Creativity. I must not waste my gifts, nor do I want to. I don’t want to waste my life. God has given me tools.
There are many rosary meditation guides but only one that is ours. He needed a designer for his guide. We bickered. We fought about which paintings should accompany each mystery. I won that battle and I feel victorious when everyone tells him how beautiful the artwork is and it’s their favourite part. I understand the beauty that draws people in; it fills us with joy. He credits the Blessed Mother but he gives me a wink. His dying sentiment, says the man who just turned 92 this past November. Why do I do it? Because I am called. It is my gift. And I am honoured. This guide is now in countless countries and at least four continents.
When the original version of the rosary meditation guide was done I missed Fr. Andy coming over. He would be there for a joke or for my tears, for the trials of isolation and unending illness. Also, for the sacrament of the sick. Most think it is called “Last Rites” as it is portrayed in movie deathbed scenes but this is not true. “Anointing of the Sick” should be received monthly when chronically ill. I did for quite some time. I miss it.
My fine art is different but they always seem to intermingle. “Cause Driven Artists” was an enlightened idea that ran out of steam before it started. Regardless, it led me to Dysautonomia Advocacy Foundation. I reached out and to my surprise the response was my gift. A friend. A confidant. A beautiful, kind soul. I began by helping with the Team DAF Art Fundraiser, in Charleston, SC. I even sold a painting! The founder’s illness keeps progressing. She could no longer carry-on and so I did because I love her. I volunteered as creative director and did all the design. I had some help to run it....grammar and legal stuff. Then it was just me. Team DAF then led me to a lovely young lady in South Africa who was inspired by DAF. She is now under an umbrella non-profit for Rare Disease South Africa and I have the honour of donating my time and talent to help with branding. These connections come in the strangest ways. Loving people a world away.
It’s not always about strength. It’s about love. I think our friends need to hear “I Love You” (on the regular.) Words and actions.
Saint Pope John Paul II said “do not be afraid. Do you not be satisfied with mediocrity. Put out into the deep and let down your nets for a catch.” I give my time and talent for those in need, whose voices need to be heard and seen. Doing ''something truly beautiful for God'' Mother Teresa.
“The fruit of silence is prayer, the fruit of prayer is faith, the fruit of faith is love, the fruit of love is service, the fruit of service is peace
There’s another part. How my soul is cared for by others. Usually, I would speak of my husband and parents but this is different. In a world gone secular my soul cries. My heart breaks when fellow chronic illness patients are unbelievably self-centred. The lack of true communication, community and support is an embarrassment. This causes people to keep quiet when they need help. This causes more isolation on top of already being isolated. When I see it, I reach out.
I’ve been without support and know how it feels, yet, my mum is a daily churchgoer and the Christlike example comes from her church going friends. They support my awareness efforts, buy my acromegaly awareness T-shirt and wear them proudly, advocating! When my art is for sale on pillows in a competition they are the ones to buy. They are the ones who bring me back blessed rosaries, handkerchiefs and relics from holy places like Medjugorje, Lourdes and Fatima. They lift me up with prayer, concern, cards and love.
When I am lost, hurting and fighting despair... Too overwhelmed to concentrate, too distraught to stop crying… Simply pray...Jesus, I trust in you. Lord, I believe. Help my unbelief.
God has given me the gift of faith. God has given me the gift of strength and I fight on for me and others. God has given me the gift of art and I will make the world a beautiful place. For the glory of God. When doing for one, you are doing it for God.
UK’s largest ever NHS rare disease diagnosis programme launched by Mendelian and Modality NHS Partnership
Mendelian and Modality NHS partnership set its sights on ending the diagnostic odyssey for those who may be undiagnosed with a rare disease, with the launch of the biggest UK rare disease diagnosis programme.
On the 3rd December rare disease digital health company, Mendelian, and Modality NHS Partnership, have announced the biggest ever rare disease diagnosis programme in the UK to improve rare disease diagnosis and enable quicker access to better care .
With 1 in 17 people affected by a rare disease during their lifetime and a path to diagnosis that lasts on average five years, this new partnership will enable earlier and more efficient rare disease care for people supported by the Modality NHS Partnership who may be living with an undiagnosed rare disease.
Beginning in January 2021, Mendelian’s NHS-integrated, purpose-built technology will support primary care diagnosis of rare disease, throughout Modality’s extensive GP practice network. Supporting more than 450,000 people through over 45 GP practices, Modality is the largest GP super-partnership in the UK, covering eight regions from North Yorkshire to Mid Sussex.
Rare diseases is a huge category used to describe over 6,000 known conditions. Each of these conditions affects fewer than 1 in 2,000 people globally, which means that diagnosis, management and treatment is largely unknown, even in the clinical community.1,
Too many times I’ve heard the same story from patients, carers and parents - that their journey to diagnosis was long and painful - but once received, it opened many doors that led to improved quality of life.
Dr Will Evans, Clinical Lead at Mendelian comments: “Too many times I’ve heard the same story from patients, carers and parents - that their journey to diagnosis was long and painful - but once received, it opened many doors that led to improved quality of life. Getting a correct diagnosis isn’t easy and doctors do everything they can to help patients: to get them on the appropriate treatment pathway, to ease symptoms and slow disease progression. Often this involves ruling out more common conditions, trailing medications and consultations with multiple specialists related to their symptoms, all of which takes time. What we aim to do at Mendelian is use our specially developed technology that understands the signs and symptoms of potential rare diseases to help the clinicians looking after these patients to reach a correct diagnosis.”
For many patients living with a rare disease, the journey to diagnosis is often long and stressful, frequently with several misdiagnoses until a final, correct diagnosis is reached. During this odyssey, patients may attend countless appointments, see a variety of specialists and endure multiple investigations. The cost, emotionally and financially, is extremely high. In the last ten years alone undiagnosed rare disease have cost the NHS in excess of £3.4 billion.
Modality is excited to be working with Mendelian on this project to identify patients with rare diseases earlier than the current standards. We believe in the long term this will benefit both patients and the NHS in ensuring that patients get the right level of care earlier on.
At Mendelian, we enable better clinical care through earlier rare disease diagnosis. For patients, the journey to diagnosis is often long and stressful. In the UK, on average, patients endure three misdiagnoses via five different doctors and a wait of over five years before receiving a diagnosis. Additionally, in the past decade alone, undiagnosed rare diseases have cost the NHS in excess of £3.4 billion.
Founded in 2015 by a group of technologists and clinical doctors, Mendelian’s software, MendelScan, uses state-of-the-art technology, data capture and the latest medical knowledge to enable and improve rare disease diagnosis. By supporting primary care physicians to quickly refer to the right specialist, we enable faster diagnosis and treatment for patients. Through more efficient care, the company helps to significantly relieve pressure on an overstretched NHS and following this partnership, is now scanning almost 1m patients to detect rare diseases.
About Modality Partnership
Modality Partnership is an award-winning GP super-partnership that operates primary health care and community services nationally. A super-partnership is made up of GP practices who come together to form one single partnership. Founded in 2009 through the coming together of 2 practices with just over 25,000 patients, Modality has evolved into being the largest National GP Super-partnership in the UK, serving over 450,000 patients across 8 regions. By being part of a larger group of practices means Modality can be more efficient in the way it works.
Modality is committed to NHS values and we are continuing to grow, innovate and sustain services in General Practice and across the system
 European Commission – European Commission. (2020). Rare diseases. [online] Available at: https://ec.europa.eu/info/research-and-innovation/research-area/health/rare-diseases_en
[Last accessed: November 2020]
 Nguengang Wakap, S., Lambert, D.M., Olry, A. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 28, 165–173 (2020). https://doi.org/10.1038/s41431-019-0508-0
[3} Imperial College Health Partners. A preliminary assessment of the potential impact of rare diseases on the NHS, Mendelian, Report on Initial Findings November 2018. [online] Available at: https://www.mendelian.co/blog/the-cost-of-undiagnosed-rare-diseases [Last accessed: November 2020]
Unadulterated community insights drive clinical trial success in a neglected adult rare disease community, despite COVID-19 pandemic.
Written by Nadia Bodkin
As the U.S. grapples with the COVID-19 pandemic, the rare disease advocacy community, representing over 360 million people worldwide, is counting the results of a recent clinical trial in Rett syndrome as a win for all.
The restrictions imposed on the world as the human race has been forced into a new normal with climbing SARS-CoV-2 infections, the coronavirus that causes COVID-19, has been referred to as a sort of ground-levelling event by some of those in the rare disease community. Otherwise active and healthy individuals have now experienced extended medical isolation and has it has tragically claimed over 1.62 million lives worldwide as of today.
While the concept of social distancing and the widespread embrace of a more virtual existence has been a difficult adjustment for some, a large group of people, 18 years of age and older, living with rare conditions report that they have been social distancing and living a somewhat mirrored existence to today’s quarantine life long before the world was forced into the new virtual lifestyle.
Unsurprisingly the COVID-19 pandemic has disrupted clinical trials worldwide, forcing many to shut down. Despite the global disruption, a Phase 2 clinical trial evaluating the safety and efficacy of Anavex Life Sciences‘ investigational therapy ANAVEX®2-73 (blarcamesine) in Rett syndrome has completed without disruption.
The promising results from the trial have not only raised excitement from within the Rett syndrome community and the broader autism spectrum community, but also within the wider rare disease advocacy landscape. This is in main, down to Christopher U. Missling, PhD, President and CEO of Anavex, who, during his short video response to the press release announcing the trial’s results claimed,
Before the pandemic, several community-based stakeholders report that the rare disease advocacy community had an extremely difficult time getting stakeholders in the biopharmaceutical space to consider allocating resources to establish a decentralised approach to clinical trials, let alone design a trial that specifically focuses on rare disease adults with neurodevelopmental disorders. Anavex did both and didn’t need a global pandemic to incentivize them.
Now several rare disease community advocates are calling on biopharmaceutical manufacturers to turn directly to the community for unadulterated community-based insights prior to establishing protocols and requirements that are simply unrealistic and burdensome to patients and carers. Additionally, through the Adults Living Rare initiative, the Rare Advocacy Movement has been focused on redirecting some of the advocacy community’s focus towards addressing the needs of adults living with rare diseases, as 71% of people with a rare disease worldwide are 18 years of age or older.
Dr. Missling explains in an exclusive interview, “too many biopharmaceutical companies have been afraid to approach allocating resources to the adult population because there is this misconception that too much time has passed and there is nothing that they can do.” As a result Dr. Missling and his colleagues at Anavex entered into a collaborative relationship with Rett syndrome community-based advocates from Rettsyndrome.org to design a trial for a neglected adult community. The Anavex team also coordinated with international advocacy organisations including Reverse Rett, Rett UK, Rett Syndrome Association of Australia, Telethon Kids Institute, and Pro Rett to gain a better understanding of the needs of the global Rett syndrome community. Together, Dr. Missling’s team worked with skilled community-based advocates to design a trial for young adult women with Rett syndrome that did not require travel. Even the necessary blood work required to meet the trial’s protocols were taken at the patient’s home.
Because of Dr. Missling’s human-focused approach to clinical trial design, the rare disease advocacy environment now has a success story that is even more evident by the detrimental impact of COVID-19 on the clinical trial environment,
The rare disease advocacy community is now advising the biopharmaceutical industry to follow the lead of the US-based ANAVEX®2-73 trial and to not shy away from working with neglected adult rare disease populations. The persistent message that continues to resonate out of the Rare Advocacy Movement’s collective efforts is that drug developers can significantly reduce risk when pursuing treatments in neglected rare disease communities. By recognising how vital it is to work directly with community-based advocacy experts to incorporate unadulterated community-based insights into clinical trial design and protocol strategies.
As Missling so eloquently puts it in his video response, it is the duty of drug developers to work “towards establishing human-focused protocols and policies” as they work to drive promising pharmaceutical therapies toward commercialisation and market-access.
Carlos Briceño is an American journalist from the Midwest. We welcome Carlos as the next writer in our #SundaySessions campaign. Carlos shares his personal “Reflections on faith and spirituality'' exploring what this means to him as a Catholic, he finds comfort and support in his unwavering faith in God and the importance of living in the present moment.
His faith gives him the strength he needs to stay positive in light of one of the most difficult challenges that comes with life: the devastating diagnosis of rare disease. Carlos's wife found out she was gene-positive for Huntington’s Disease (HD) at the age of 41, while his daughter found out she was gene-positive for HD when she was 22. Carlos has been writing about their experiences as a weekly columnist for BioNews (https://huntingtonsdiseasenews.com/category/a-family-tradition-a-column-by-carlos-briceno/) since 2019 and rediscovering his Catholic faith to help him see light in the darkest of times.
When I was a child, my family lived in a neighbourhood where a new home was being constructed several houses away from ours. For a boy, this meant a fabulous playground: concrete cinders; plenty of dust; mounds of dirt; and scraps of metal, buckets, nails and wood strewn all over the property. The imaginative possibilities of play and adventure there were endless.
During one visit, I misjudged the distance between a giant pothole I leaped over and fell on my chest. I had heard of the term “having the wind knocked out of you,” but I had never experienced it.
The moment I landed, I experienced it. For what seemed like an eternity, I couldn’t breathe. I got scared.
I couldn’t breathe!
When you love someone, like I love them, you don’t want anything terrible to happen to them. You don’t want them to suffer. Sadly, and tragically, they are going to. The disease attacks the nervous system and brain cells. It will cause them to lose control of their muscles. It will make them psychotic. Reality will become distorted. They will lose the ability to walk. They won’t be able to swallow food one day. They will become shadows of their former selves.
My heart and mind weep thinking about all this. This feeling of not being able to breathe – of course, I mean that figuratively – stems from my anxiety and sorrow of projecting about their futures.
How I have decided to cope is to lean on my faith. I am Catholic. I have never lost my faith, but I have been lazy and lukewarm in practicing it – until their diagnoses.
What I have learned in my faith journey is that God exists. He loves us. He allows suffering because suffering is an opportunity for others to accompany the person suffering in deeply loving ways. It’s also an opportunity to learn what is important in life and what your blessings are.
I am a selfish creature. But, I am learning how to be unselfish in equipping myself to be the best caregiver I can be for them. To focus more on them rather than on me, me, me.
In the process, I have been learning how to surrender myself more to an expert in unselfishness and suffering: the Son of God, Jesus. I often pray to Him, saying, “Please help me, Lord. I am scared. Teach me to love better.”
In building a relationship with Him and in letting go of what I feel I need – and allowing His will to be done – I have felt an overflowing of supernatural graces in my life. His mercy and love have poured into my soul. I feel beloved.
As I result, I feel peace and less anxiety. I feel joy. I feel energy. I love more. All those graces help my well-being, leading me to become more mindful, which is a way of understanding how God’s graces are working by becoming aware of the blessings in each moment. As a result, I have also grown in gratitude.
Others have noticed the link between religion, spiritually and well-being. There have been studies that show that having faith is good for your health.
In learning how to be mindful of seeking the Divine, I came across the writings of a French Jesuit priest, Father Jean-Pierre de Caussade. He wrote about what is called the Sacrament of the Present Moment in his 18th-century book, Abandonment to Divine Providence.
To those reading this who are part of the rare disease community and are suffering or despairing, and to their caregivers who are anxious or worried, I share with you the following words by Father de Caussade from his book, as a way to inspire you to gain strength and comfort in your faith and spiritual practices and to seek God’s will in the Present Moment, not worrying about the future, but staying focused on the blessings contained in each second of the day:
The present moment is always full of infinite treasure. It contains far more than you can possibly grasp. Faith is the measure of its riches: what you find in the Present Moment is according to the measure of your faith. Love also is the measure: the more the heart loves, the more it rejoices in what God provides. The will of God presents itself at each moment like an immense ocean that the desire of your heart cannot empty; yet, you will drink from that ocean according to your faith and love.
Buddhism, Yoga and Meditation: How Dee Cowburn is following the path to mindfulness to guide her through life's darker times
We are delighted to welcome Dee Cowburn, a former print journalist now working in communications, originally from Coventry. Dee lives in Leeds with her partner Rob and her two children, Thea, 5 and Tilly, 4. Tilly has Rett Syndrome. Dee beautifully shares her personal “Reflections on faith and spirituality'' explaining what this means to her and how it helps her to handle life's challenges. By putting her faith in mindfulness, she has focused her energy into leading a calmer more balanced life through meditation and other traditions rooted in Buddhist practices.
I have always been interested in yoga and meditation and practise both regularly. As well as working in communications and training to be a yoga teacher, I advocate passionately for Tilly to access the care she deserves. I am currently finalising her EHCP, getting her ready for primary school next year, and sorting out a specially adapted home, trying to secure funding and all that entails. I write a blog around the challenges we face as a family as a way of processing the challenges of daily life with a genetic syndrome, trying to ensure it doesn’t call all the shots. Tilly’s Tales is our Facebook page where we show what Tilly can do and how she does it.
Tilly is four and was diagnosed with Rett Syndrome aged 18 months. Rett Syndrome is a rare genetic condition that has left Tilly unable to walk, talk, use her hands, or do anything for herself. It gets more complicated and unstable the older she gets.
I couldn’t change Tilly’s reality so I had to change myself and the way I was dealing with it.
Through gradually understanding my reactions to things, and how I had used overwork since my mum died in 2006, I understood there could be a different way of doing things, especially if her syndrome was going to make life seriously unpredictable.
I had always been interested in yoga and meditation, and when the doctor advised me to exercise for my mental health, not my physical health, I turned to yoga again. I then started meditation through the Headspace app initially for ten minutes a day to cope with the difficult news we were hearing weekly about her condition. I then found a book called Buddha in Blue Jeans all about mindfulness and loved the simplicity of it and the art of sitting quietly. I heard about a Buddhist monk called Ajahn Brahm who did guided meditations on YouTube and did Dharma talks, about the right way of living and in that straightforward way I deepened my practice.
Ajahn Brahm spoke about the impermanence of things.
Whilst understanding life comes with suffering, it is important to find joy in the moment to make life more bearable.
This is Buddhism in its most simple terms. For me that is loving Tilly for who she is and understanding that my job is to make her life as rich as possible.
For me practising the mindfulness principles, meditating and trying to live by the Buddhist path of right understanding, right intention, right speech, right action, right livelihood, right effort, right mindfulness and right concentration helps.
Recognising I am human with my limitations, is important. Trying to be more compassionate and kind to myself, particularly when faced with another challenging moment in relation to Tilly’s condition, is easier because of the foundation I now have of understanding myself and others and developing self awareness. I also have the space in my mind from meditating. I had mentioned to my therapist about always wanting to be a yoga teacher but listed the reasons why I couldn’t do it. He said they were all internal barriers so why not give it a go.
So I regularly committed to yoga classes and then applied for a teacher training course and got accepted in January this year. My spiritual practice has deepened as a result. I meditate every day and understand that yoga isn’t about movement, more about spiritual practice and connecting with your inner self and practising authenticity in a way that makes life easier because you are living your own truth. The principles of yoga tie in with a mindfulness and spiritual perspective.
Having a strong belief system helps me establish what is important to me and I try to live by the Buddhist Eightfold Path above, right thinking, right actions, right mindfulness and right concentration are key.
I’m a work in progress but I try my best.
For me, this path includes daily meditation, sitting quietly and turning inwards, focusing on the breath and daily yoga - gentle moving with Yin or Restorative yoga, or Ashtanga yoga if I have more energy and life isn’t so overwhelming that day. I also meditate online with Jack Kornfield of Spirit Rock, responsible for bringing Buddhism and mindfulness to the West.
It is less of a religion for me rather a spiritual practice that deepens and strengthens my soul and gives me the strength and resilience needed to cope with the challenges Tilly’s condition can throw up.
That includes sorting her EHCP, coping with worsening scoliosis, four months in lockdown with all services pulled, current breathing issues and finding a house to adapt as she gets bigger and her needs more complex. It is just me and my partner and our two girls, I have to be mentally strong for them and meditation, yoga and following the Buddhist mindfulness practices and wisdom helps me to sustain that level of mental strength and lose the inner critical voice who tells me I'm failing.
A perfectionist fighting a genetic syndrome is not a good match. Meditation gives me the wisdom to choose my battles over Rett so I can advocate for Tilly but also cope day to day.
Last year, I went on a meditation retreat and everyone I spoke to without exception had experienced something life changing that had brought them to meditate and sit with their experiences.
Last year, I went on a meditation retreat and everyone I spoke to without exception had experienced something life changing that had brought them to meditate and sit with their experiences.
It works for me so it works for Tilly and that's what counts.
Reforming Rare Diseases: Why Genetic Alliance UK and Alexion are calling for urgent change to improve patient care
As the new Rare Disease Strategy is set to be published later this year, Genetic Alliance and Alexion have partnered to carry out a survey to understand the impact of rare diseases to individuals and families. In this, Reforming Rare Diseases report they demonstrate the shortcomings of the 2013 Rare Disease Strategy and are calling for robust implementation plans and accountability. We are delighted to share an overview of this report with the full report available through the link at the bottom.
2020 marks the end of the implementation period for the 2013 UK Rare Disease Strategy. Many are awaiting a new framework for rare diseases which will shortly be published and supported by implementation plans across the four nations of the UK.
Patients may have heard the Government or NHS sharing the primary aim of the 2013 Strategy: “to ensure no one gets left behind because they have a rare disease”. While this was the right intention and many of the 51 recommendations have ensured tangible progress has been made, there are still many changes that need to be made to improve the patient journey and overall care. So much so that seven years on, the consistent lack of health system prioritisation given to addressing the challenges facing people with a rare disease means this aim should be considered a work in progress rather than complete.
A new UK-wide strategy for rare diseases is promised, welcomed and required, however it is vital that opinions from across the rare disease community are considered when developing implementation plans to ensure improvements are effectively delivered throughout the patient journey. With this in mind, Alexion and Genetic Alliance UK carried out a survey of over 1,000 people living with rare diseases and gathered expert insight from leaders of patient associations and clinicians working within the rare disease space, to learn more about current views on care and diagnosis.
Results from the survey were developed into the Reforming Rare Diseases report, which brings the reality of the challenges faced by patients with rare diseases into clear view. Despite the Rare Disease Strategy having been implemented in 2013, half of patients believe there has been no change in their quality of care. In addition, over one third (37%) rated their overall experience of care as poor or very poor, with 52% diagnosed within the last five years having to wait over two years for their diagnosis. Moreover, in recent months the COVID-19 pandemic has worsened the longstanding issues which are facing patients living with a rare disease in the UK, such as challenges receiving a definitive diagnosis, access to specialist care and treatment and coordination of services.
The lack of integrated care and coordination of services for people living with rare diseases is a particular concern among the rare disease community. Despite better coordination of care being a key focus in the 2013 Strategy, half of the patients surveyed believe their care is not effectively coordinated, with over 70% of patients having to coordinate their own care.
The findings in this report show why it is so important to listen to and learn from patients and their experiences. These perspectives have been translated into a series of key recommendations in the report aimed at helping to improve the quality of life for people in the UK affected by rare diseases. These perspectives and recommendations must be considered in the implementation of a new strategy, which must ensure that people with a rare disease have improved quality of care, including faster diagnosis, better coordinated care and timely access to new innovative therapies.
Resolving the problems that rare disease patients experience in accessing diagnosis and good, coordinated care have often been parked in the “too difficult” box because there is no one size fits all solution for people affected by rare disease. However, if any lessons have been learned from the COVID-19 pandemic, it is that, when we work together, we can rapidly overhaul entire patient pathways and implement technological solutions previously regarded as challenges in the NHS.
These lessons must be applied to help the 3.5 million people in the UK affected by a rare disease access patient centred care with a renewed vision in the new Rare Disease Framework and a robust plan of action with every stakeholder assigned its accountability for delivering.
With this, Alexion Pharma UK and Genetic Alliance UK are calling on Government and the NHS to continue to take collaborative action to improve quality of care. The time is now to listen to the rare disease community, urgently address these failings, and take action to ensure positive change.
Click below to read the full report.
Job number: M/UK/UNB-U/0066
Date of preparation December 2020
Attitude, Adapt, Faith and Purpose; how Dan "Dry Dock" Shockley uses his positive state of mind to adapt to life as an "ostomate".
Dan is a great friend of our RARE Rev movement and we have enjoyed keeping up to date with his efforts in raising awareness for hereditary colorectal cancer and importance of early detection. We featured Dan in our Summer 2019 RARE Cancer edition and are delighted to welcome him as our first guest blogger for the #SundaySessions series. Our new guest blog series inviting our community to share their views and reflections on a variety of thought-provoking topics. We are starting with
“Reflections on faith and spirituality''.
My name is Dan "Dry Dock" Shockley, retired Navy, served on 7 ships, 3 of which were deployed to the Persian Gulf. I was deployed to the Middle East numerous times in direct support of Operation Southern Watch; Operation Enduring Freedom and Operation Iraqi Freedom. I'm an 8 year hereditary colon cancer WARRIOR w/a permanent ileostomy.
Challenges like my AFAP diagnosis are opportunities, not obstacles that can’t be overcome.
It was during a routine colonoscopy at age 51 in 2012 that they found over 100 polyps embedded throughout my colon, rectum and anus. After gene sequencing DNA testing I was diagnosed with Attenuated Familial Adenomatous Polyposis (AFAP), a subtype of Familial Adenomatous Polyposis. This rare genetic condition is an autosomal dominant germline mutation. It was discovered by Dr. Henry T. Lynch and estimated to affect less than .03 percent of the worldwide population. Dr. Lynch is the founding father of hereditary cancer research.
Being intrigued by this diagnosis I took things in stages. First, by reading all I could about the mutation to better understand this disease, then I had the surgery to remove my colon, rectum and anus and create a permanent ileostomy. Second, embracing life as an ostomate. Thirdly, understanding this rare mutation and the impact it will have on my life.
During my 22-year Navy career I learned that mental and physical strength are important attributes, especially in the face of personal or professional adversity. My training has taught me that being informed, prepared and maintaining a positive attitude while committed to the mission is instrumental in achieving success.
I also learned early on to prepare for the worst and hope for the best.
There is an old cliché: "You can lead a horse to water, but you cannot make it drink." I once heard
there is a flip side to this saying. You can influence a horse to drink the water by providing it salt on the way. When I think of this expression it serves as a constant reminder to me that as Christians we are the salt of the earth as mentioned in Matthew 5:13. With that said, the Bible is our source of salt. There are many references in the Bible pertaining to salt. In numerous contexts, it is used metaphorically to be a sign of permanence, loyalty, fidelity, value, purification, durability and usefulness. Of these, the contexts of durability and usefulness have had a direct impact in my life.
When faced with challenges, both professionally, personally and physically, I maintain a positive attitude and utilise numerous resources that allow me to better understand the situation. Challenges like my AFAP diagnosis are opportunities, not obstacles that can’t be overcome.
Moving forward, I have been able to overcome this medical challenge, adapt to my new life style and press on with my life with a business as usual approach. I maintain the same attitude today and share it every opportunity I have. I draw my strength being an example of the salt of the earth" and realize the type of difference I know I can make in my life. I truly believe attitude determines the ability for a positive transition. My daily walk with the Lord is the reason for my durability and usefulness as the salt of the earth.
I have always had a great sense of faith – and feel that everything is for a purpose…this is my purpose. I've always had faith in my family, my fellow comrades and my medical team.
I feel blessed to have been able to live a life with purpose. Worrying did not cause my condition and worrying will not make it go away. As mentioned earlier, I look at having AFAP as a challenge rather than an obstacle. My mindset has been and continues to be not to think about the things I unable to control, such as medical conditions. What I can control is my attitude – which has always been and will remain positive.
My purpose is to educate and share my journey on behalf of those that could not share theirs. My hope is by spreading awareness about hereditary colorectal cancer and importance of early detection will saves lives.
My positive attitude had a direct impact on my faith, adapting to life as an ostomate and my purpose in life. That said, I've adopted four words I reflect on daily: Attitude; FAITH; ADAPT and Purpose.
Maintaining a positive attitude is
instrumental in overcoming adversity.
Full Assurance Influenced Through Hope
(An acronym I created after my diagnosis.)
Attitude Determines the Ability for a Positive Transformation
(An acronym I created shortly after my ostomy surgery.)
My purpose is to educate the world about hereditary colon cancer syndromes and importance of early detection continuing the legacy of Dr. Henry T. Lynch.
Faith is believing in what we're unable to see. Example: We can see the tree branches swaying in the breeze. However, we're unable to see the breeze, just the effect of it. My positive attitude and strong faith had a direct impact on my ability to adapt to life as an ostomate with a rare disease.
I always remember that AFAP, to me, stands for Always Forge Ahead with a Purpose. Remember to always maintain the ability to reach out and ask questions…do your research and find organisations that can help.
But above all stay positive, keep the faith and find your purpose.
My positive attitude and strong faith had a direct impact on my ability to adapt to life as an ostomate with a rare disease.
In closing, here's my analogy of LIFE and BASEBALL. What do they both have in common?
Neither has a time limit. If the baseball game goes into extra innings, I think of it as free baseball. My life as a colon cancer WARRIOR is in extra innings. Therefore, I'm enjoying free baseball.
I have come to realize when life throws us a curve, or as I like to call it a cut-fastball, better known as a "cutter" in the baseball world, it is a personal choice on how you handle it.
My focus is on God which directly affects my ability to maintain a
Rare Revolution Editor