 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
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 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. Attitude Maintaining a positive attitude is instrumental in overcoming adversity. FAITH Full Assurance Influenced Through Hope (An acronym I created after my diagnosis.) ADAPT Attitude Determines the Ability for a Positive Transformation (An acronym I created shortly after my ostomy surgery.) Purpose 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 |
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A new report by the Neurological Alliance[i], launched 12th November, Out of the Shadows: what needs to change for people with rare neurological conditions. The report is calling for much better treatment and care for the 150,000 children and adults living with a rare neurological (brain) condition in England. Some others still remain undiagnosed. |
The hard-hitting report, Out of the Shadows: what needs to change for people with rare neurological conditions includes extensive input from member charities of the Alliance, in addition to expert clinicians. The report points out that while the number of people living with rare neurological conditions equals the number living with some types of cancer, people with rare neurological conditions are all too often left behind when it comes to getting the care and treatment they need.
In addition, more than 200,000 people with neurological conditions are expected to be waiting for specialist appointments by the end of the year
The Alliance warns that people with rare neurological conditions risk experiencing further delays and gaps in their support due overstretched services and waiting lists exacerbated by COVID-19.
Case Studies In The Report
Livvy, aged 19, has a rare, undiagnosed neurological condition that leaves her in a wheelchair, needing a feeding tube, and having multiple seizures every day.
Bradley’s dad, John, died with progressive supranuclear palsy at the age of 62, before we was even diagnosed, despite his mobility deteriorating quickly over just a few years - clinicians were not able to agree on what condition he had.
Sam, aged 54, has Huntington’s, another progressive neurological disorder; he also has related mental health problems which have not been successfully addressed and he has been in and out of psychiatric wards. Now, tragically, Sam has terminal cancer.
Specifically, the Alliance’s new report Out of the Shadows is calling for:
- Changed perceptions around rare neurological condition: just because they are complex does not mean they cannot be managed well, says the report. People with rare neurological conditions are entitled to equal access to care and treatment.
- Speedier access to specialists and a diagnosis: 4 in 10 charities surveyed recently for the report[ii]i said diagnosis of the people they represent takes, on average, 3-5 years. The report points out that there needs to be greater awareness of rare neurological conditions in primary care, so people are more quickly referred on for a specialist assessment when they have neurological symptoms.
- Faster access to new treatments: the UK often lags behind other countries in Europe when it comes to approving and funding new treatments for rare neurological conditions. For example two associations told the Alliance in our recent survey:
The NICE process takes literally years of upset and our families don’t have years; two children died waiting to access Brineura | The paediatric roll out of Spinraza has been quite good, but the treatment roll out for adults hasn’t progressed at all well |
- Improved mental health support: less than a third of people with rare neurological conditions feel they are getting the mental health care they need according to the Alliance’s 2019 Patient Experience Survey iv. Again, in our more recent survey of September 2020, all 10 charities who responded reported that the mental health needs of those they represent, were either ‘not being very well met’ or were ‘not being met at all’.
- Information should be provided to people with rare neurological conditions and/or their families on diagnosis: again, the Alliance’s Patient Experience Survey 2019 found that just a third of people (or families) with rare neurological conditions are provided with written information about their condition at the time of diagnosis to help them understand more about their condition and care choices.
- High quality social care and home adaptations are not just ‘add on extras’ for those that need them: the report points to recent research by the Motor Neurone Disease Association which found that some people with motor neurone disease do not always receive the home adaptations they need before they pass away, due to lengthy delays in service provision and the cost. People with rare neurological conditions, and their families, need proper well-funded support in the community.
Taken together, rare conditions are not that rare at all - 1 in 17 people will be affected by a rare condition at some point in their lives, and it has been estimated that nearly a third of genetic rare conditions are neurological or have neurological symptoms. Yet, poor public awareness and a lack of investment in services for rare conditions has meant that, for too long, people with rare neurological conditions have experienced long waits for a diagnosis, poor care coordination and insufficient information provision.
We hope that this report will bring about a sea change in how rare neurological conditions are viewed, both in the medical profession and in wider society. It’s time that rare neurological conditions came out of the shadows.
Georgina Carr, Chief Executive of the Neurological Alliance
We first had that gut-wrenching sense that she wasn’t developing like her peers when she was around 9 months. Livvy is now and has been tested for a myriad of conditions that cause her relentless epilepsy, but we still don’t have an answer as to why.
We hope the findings of this report will give people with rare neurological conditions a voice, influencing decision-makers as we shape the services of the future post Covid. We represent a multitude of unique conditions, yet our journey has shared challenges and we speak together on the need to improve the diagnostic odyssey, access to treatments, awareness and information.
Amanda Mortensen, mother of Livvy and Chief Executive of the Batten Disease Family Association (BFDA)
The launch of the ‘Out of the Shadows’ report has given us a great opportunity to come together as a collective with the Neurological Alliance, to shine a brighter light on the challenges people living with rare neurological conditions, such as progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) face, and the crucial role charities play in providing support and lobbying for more rapid diagnosis and access to co-ordinated care.
Dr Wendy Edwards, Research Manager at the PSPA (Progressive Supranuclear Palsy Association)
About The Neurological Alliance
The Neurological Alliance is a coalition of more than 80 organisations working together to transform outcomes for the millions of people in England with a neurological condition. We campaign for high quality care and support to meet the individual needs of every person with a neurological condition, at every stage of their life. Our work is shaped by the experiences of people with neurological conditions and aims to address the causes of poor care.
i. The Neurological Alliance is a coalition of more than 80 organisations working together to transform outcomes for the millions of people in England with a neurological condition. We campaign for high quality care and support to meet the individual needs of every person with a neurological condition, at every stage of their life. Our work is shaped by the experiences of people with neurological conditions and aims to address the causes of poor care.
ii. Neurological Alliance report, Restarting services for people with neurological conditions after the COVID-19 pandemic and planning for the longer term, July 2020.
iii In September 2020, 10 member charities of the Alliance, representing people with rare neurological conditions, responded to a survey about the health care received by their beneficiaries: Ataxia UK, Batten Disease Family Association, Brain and Spine Foundation, Huntington’s Disease Association, Multiple System Atrophy Trust, Transverse Myelitis Society, Narcolepsy UK, PSPA and Spinal Muscular Atrophy UK. We had further contributions to this report from other members of the Alliance, including Dravet Syndrome UK, MNDA, Ring20 Research and Support UK, Spotlight YOPD and Parkinson’s UK.
Iv. In 2019, the Neurological Alliance conducted a survey of more than 10,000 people with neurological conditions, including 1742 people with rare neurological conditions. The findings were published in Neuro Patience: still waiting for improvements in treatment and care, July 2019.
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AADC-d associated with high and accumulating disease burden, demonstrating the need for access to an effective therapy Patient and caregiver quality of life study reveals real-life impact of nonsense mutation Duchenne muscular dystrophy and reinforces value of treatment |
SOUTH PLAINFIELD, N.J., Nov. 16, 2020-- PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced the presentation of data on two rare diseases, providing new insights on the burden of Aromatic L-Amino acid Decarboxylase deficiency (AADC-d) and Duchenne muscular dystrophy caused by nonsense mutation (nmDMD). The data, presented at the Virtual ISPOR Europe 2020 conference, further advance the understanding of these rare and devastating childhood genetic disorders, and the need and value of effective treatments.
PTC has been working with the rare disease community to better understand the impact of rare diseases on patients and their families for over 20 years. These insights are critical so that the best treatments can be made available to patients.
Stuart W. Peltz Ph.D.,Chief Executuve Officer, PTC Therapeutics
AADC-d associated with high and accumulating disease burden, demonstrating the need for access to
an effective therapy
an effective therapy
AADC-d is an ultra-rare, genetic disorder that causes severe disability, and the need for 24-hour care and high mortality.[i] There is currently no effective disease-modifying therapy approved for patients with AADC-d.
A review of 66 patient case reports found that symptoms of AADC-d that contribute to high disease burden started from birth (in 29 percent of cases) and accumulated over time.[ii] By age six, 28 percent of patients were so severely disabled that they experienced symptoms in six core domains.2*
A review of 66 patient case reports found that symptoms of AADC-d that contribute to high disease burden started from birth (in 29 percent of cases) and accumulated over time.[ii] By age six, 28 percent of patients were so severely disabled that they experienced symptoms in six core domains.2*
New insights into the impact of nmDMD and treatment from patient and carer perspectives [i],[ii],[iii]
nmDMD is a rare and fatal genetic disorder that results in progressive muscle weakness from early childhood, and leads to premature death in the mid-twenties due to heart and respiratory failure.[i]
This first known qualitative study evaluating real-life patient and caregiver burden showed that nmDMD has a substantial and multi-faceted impact on both patient and caregivers, including physical, emotional, social and time related consequences.3,4,5
This first known qualitative study evaluating real-life patient and caregiver burden showed that nmDMD has a substantial and multi-faceted impact on both patient and caregivers, including physical, emotional, social and time related consequences.3,4,5
These findings reinforce the need for treatments that address the high unmet need in Duchenne muscular dystrophy and the vital spill over benefits that treatments could also provide for families and caregivers. By improving symptoms, reducing loss of function, or delaying disease progression, treatments have the potential to positively impact the health-related quality of life of individuals, families and caregivers living with Duchenne.
Sarah Acaster, Principal Investigator, Acaster Lloyd Consulting Ltd (ALC)
About aromatic L-amino acid decarboxylase deficiency (AADC-d)
AADC-d is an ultra-rare, genetic, life-shortening disorder that causes severe disability and ongoing physical and mental suffering from the first few months of life, with many reliant on feeding tubes or breathing support to survive, and life-long, 24-hour care.1 AADC deficiency leads to delays or failure to reach developmental milestones, such as head control, sitting, standing, walking, or talking, low muscle tone (also known as muscular hypotonia), severe, seizure-like episodes involving involuntary eye movement (also known as oculogyric crises), autonomic abnormalities, and the need for life-long care.1 Significant health issues include infections, orthopedic and cardiac complications, and other comorbidities.
About Duchenne Muscular Dystrophy
Primarily affecting males, Duchenne muscular dystrophy (Duchenne) is a rare and fatal genetic disorder that results in progressive muscle weakness from early childhood and leads to premature death in the mid-twenties due to heart and respiratory failure. It is a progressive muscle disorder caused by the lack of functional dystrophin protein. Dystrophin is critical to the structural stability of all muscles, including skeletal, diaphragm, and heart muscles. Patients with Duchenne can lose the ability to walk as early as age ten, followed by loss of the use of their arms. Duchenne patients subsequently experience life-threatening lung complications, requiring the need for ventilation support, and heart complications in their late teens and twenties.
About PTC Therapeutics, Inc.
PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to patients with rare disorders. PTC's ability to globally commercialize products is the foundation that drives investment in a robust and diversified pipeline of transformative medicines and our mission to provide access to best-in-class treatments for patients who have an unmet medical need.
| Investors Lisa Hayes +1 (732) 354 8687 lhayes@ptcbio.com | Media: Jane Baj +1 (908) 912-9167 jbaj@ptcbio.com |
[1] Wassenberg. T, et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017;12:12.
[1] BakidouA, Werner C, Buesch K. Age at onset and frequency of clinical signs and symptoms in patients with AADC deficiency: A systematic literature review. Poster to be presented at the ISPOR Europe Annual Meeting; November 16-19, 2020.
[1] Williams K, Buesch K, PiglowskaN, Davidson I, RanceM, BoehnkeA, AcasterS. The development of a conceptual model on the impact of caring for an individual with nonsense mutation Duchenne Muscular Dystrophy. Poster to be presented at the ISPOR Europe Annual Meeting; November 16-19, 2020.
[1] Williams K, Buesch K, PiglowskaN, AcasterS. Symptoms and impacts of nonsense mutation Duchenne Muscular Dystrophy: A qualitative study and the development of a patient-centredconceptual model. Poster to be presented at the ISPOR Europe Annual Meeting; November 16-19, 2020.
[1] Williams K, Buesch K, Piglowska N, Davison I, Rance M, Boehnke A, Acaster S. Symptoms and impacts of nonsense mutation Duchenne Muscular Dystrophy at different stages of ambulation. Poster to be presented at the ISPOR Europe Annual Meeting; November 16-19, 2020
[1] Van Riuten H, Bushby K, Guglieri M. State-Of-The-Art Advances in Duchenne Muscular Dystrophy. EMJ. 2017;2[1]:90-99.
[1] BakidouA, Werner C, Buesch K. Age at onset and frequency of clinical signs and symptoms in patients with AADC deficiency: A systematic literature review. Poster to be presented at the ISPOR Europe Annual Meeting; November 16-19, 2020.
[1] Williams K, Buesch K, PiglowskaN, Davidson I, RanceM, BoehnkeA, AcasterS. The development of a conceptual model on the impact of caring for an individual with nonsense mutation Duchenne Muscular Dystrophy. Poster to be presented at the ISPOR Europe Annual Meeting; November 16-19, 2020.
[1] Williams K, Buesch K, PiglowskaN, AcasterS. Symptoms and impacts of nonsense mutation Duchenne Muscular Dystrophy: A qualitative study and the development of a patient-centredconceptual model. Poster to be presented at the ISPOR Europe Annual Meeting; November 16-19, 2020.
[1] Williams K, Buesch K, Piglowska N, Davison I, Rance M, Boehnke A, Acaster S. Symptoms and impacts of nonsense mutation Duchenne Muscular Dystrophy at different stages of ambulation. Poster to be presented at the ISPOR Europe Annual Meeting; November 16-19, 2020
[1] Van Riuten H, Bushby K, Guglieri M. State-Of-The-Art Advances in Duchenne Muscular Dystrophy. EMJ. 2017;2[1]:90-99.
 | Dravet Syndrome Foundation Spain Submit your Letters of Intention and apply to our call for Innovative Research Projects in Advanced Therapies for Dravet syndrome by December 6, 2020 |
Dravet Syndrome Foundation Spain was created with the primary goal of removing the barriers that prevent research on Dravet syndrome from advancing, as well as encouraging the search for effective treatments that can mitigate or even cure the disease.
Therefore, FSD places a high priority on funding research that has a clear path to genetic understanding, clinical application and/or therapeutic development.
Dravet syndrome, also known as severe myoclonic epilepsy of infancy, is a condition of genetic origin which falls within the pathological family of channelopathies, as approximately 80 percent of affected patients have a mutation in the SCN1A gene which encodes a sodium channel (Nav1.1) essential for the proper functioning of the brain. This syndrome begins in the first year of life, with seizures triggered by fever, followed by drug-resistant epilepsy. In addition, it causes serious delays in cognitive, motor and speech development, as well as behavioural problems.
Therefore, FSD places a high priority on funding research that has a clear path to genetic understanding, clinical application and/or therapeutic development.
Dravet syndrome, also known as severe myoclonic epilepsy of infancy, is a condition of genetic origin which falls within the pathological family of channelopathies, as approximately 80 percent of affected patients have a mutation in the SCN1A gene which encodes a sodium channel (Nav1.1) essential for the proper functioning of the brain. This syndrome begins in the first year of life, with seizures triggered by fever, followed by drug-resistant epilepsy. In addition, it causes serious delays in cognitive, motor and speech development, as well as behavioural problems.
- Through this call, we seek to promote fundamental, pre-clinical and clinical research aimed at advanced and innovative therapies.
- Due to the genetic nature of this disease, eligible areas of study in this open call include, among others, gene therapy of viral vectors, gene therapy of non-viral vectors, and synthetic biology for the development of disease-modifying molecules.
- Specifically, the call focuses on exploratory projects of a preliminary nature and/or which study therapeutic aspects for Dravet syndrome not yet covered, in order to help scientists lay the foundation for a long-term research strategy.
We hope to receive projects of extraordinary quality that ultimately aim to improve the quality of life of people living with Dravet syndrome. We encourage all research groups to send us their proposals!
*The period for submitting projects is NOW OPEN*
All details about the call, including rules, eligibility criteria, deadlines and the online submission platform can be found by clicking the find out more link below:
*The period for submitting projects is NOW OPEN*
All details about the call, including rules, eligibility criteria, deadlines and the online submission platform can be found by clicking the find out more link below:
Illumina join the RARE Youth Revolution to support the 2021 intern programme for young people affected by rare disease
00:01 BST Thursday 15th October 2020
The RARE Youth Revolution today announce the launch of their “Illuminating RARE Talent” intern programme with support from Illumina, Inc. (NASDAQ: ILMN), a global leader in DNA sequencing and array-based technologies.
Through the RARE Youth Revolution project, the young rare community have identified securing work experience and internships amongst their biggest challenges, with many denied the opportunity early on during the standard secondary school work experience programme.
The Illuminating RARE Talent programme will provide both short and longer-term intern placements for young people affected by rare disease, from secondary school age onwards.
The RARE Youth Revolution today announce the launch of their “Illuminating RARE Talent” intern programme with support from Illumina, Inc. (NASDAQ: ILMN), a global leader in DNA sequencing and array-based technologies.
Through the RARE Youth Revolution project, the young rare community have identified securing work experience and internships amongst their biggest challenges, with many denied the opportunity early on during the standard secondary school work experience programme.
The Illuminating RARE Talent programme will provide both short and longer-term intern placements for young people affected by rare disease, from secondary school age onwards.
At Illumina, our mission is to improve human health by unlocking the power of the genome. We are delighted to be partnering with RARE Revolution on this initiative which extends this philosophy by aiming to unlock the power of the individual... |
This programme aims to provide valuable mentorship and work experience to allow our young community to reach their full potential and demonstrate and nurture their talents. |
Nicola Miller explains that, “There is still a great deal of misinformation around rare disease and the capabilities of those affected, resulting in young people missing out on the vital upskilling and opportunities afforded to their peers. This programme aims to provide valuable mentorship and work experience to allow our young community to reach their full potential and demonstrate and nurture their talents. We hope this programme will also educate employers, demystifying the relationship between employment and those with disabilities or complex health needs.”
Intern positions will be made through trusted partner companies and will offer a variety of roles across the UK and US initially. “By working with our project partners, we hope to see this programme grow to include companies from across the globe offering diverse positions.” Nicola Miller.
Intern positions will be made through trusted partner companies and will offer a variety of roles across the UK and US initially. “By working with our project partners, we hope to see this programme grow to include companies from across the globe offering diverse positions.” Nicola Miller.
Illumina supporting the path ahead
“We are delighted to have Illumina support this initiative. Their support will enable us to recruit a full-time youth co-ordinator position for the 2021 programme. This person will be responsible for coordinating the intern programme as well as the wider project and is in itself an intern opportunity with recruitment from within our richly talented rare youth community.” Nicola Miller.
“At Illumina, our mission is to improve human health by unlocking the power of the genome. We are delighted to be partnering with RARE Revolution on this initiative which extends this philosophy by aiming to unlock the power of the individual with a rare disease through intern placements, and help them realise the potential they hold within themselves. Such programmes are powerful on many levels and help change the way society interprets rare diseases.” Shirlene Badger, Patient Advocacy EMEA, Illumina.
“At Illumina, our mission is to improve human health by unlocking the power of the genome. We are delighted to be partnering with RARE Revolution on this initiative which extends this philosophy by aiming to unlock the power of the individual with a rare disease through intern placements, and help them realise the potential they hold within themselves. Such programmes are powerful on many levels and help change the way society interprets rare diseases.” Shirlene Badger, Patient Advocacy EMEA, Illumina.
About RARE Youth Revolution
The RARE Youth Revolution is powering up young RARE voices and empowering a future generation of rare disease advocates. RARE Youth Revolution is an initiative by RARE Revolution Magazine (a first of its kind digital magazine giving a voice to those affected by rare conditions, the charities that represent and support them and industry professionals). The initial concept was a dedicated youth programme, empowering children and young people to have their RARE voices heard by supporting them with a structured mentoring and work experience programme, where they produced their own online magazine RARE Revolution Magazine Youth Takeover!
The RARE Youth Revolution is powering up young RARE voices and empowering a future generation of rare disease advocates. RARE Youth Revolution is an initiative by RARE Revolution Magazine (a first of its kind digital magazine giving a voice to those affected by rare conditions, the charities that represent and support them and industry professionals). The initial concept was a dedicated youth programme, empowering children and young people to have their RARE voices heard by supporting them with a structured mentoring and work experience programme, where they produced their own online magazine RARE Revolution Magazine Youth Takeover!
This online launch marks a big step toward reaching more young people globally, to elevate more voices and to help more children and young people gain valuable experience in media,
storytelling, and advocacy.
storytelling, and advocacy.
For businesses interested in joining the trusted intern partner scheme contact Rebecca on rstewart@rarerevolutionmagazine.com
A Virtual Experience - Translating Documentation & Communication in Clinical Research 2020
11/11/2020
Deliberate and network with industry professionals at a brand-new virtual conference on Translating Documentation & Communication in Clinical Research taking place on Tuesday, 24 November (https://www.arena-international.com/tlcr/).
Over 15 industry leaders from leading companies such as Novartis, Sanofi, Medtronic and Bluebird Bio will join attendees LIVE to share their experience and insight. Furthermore, the event will deliver a targeted audience of pharma, biotech, medical device, and CRO representatives demonstrating clear need for language solutions. With opportunities including virtual exhibition and presentation, Translation and Localisation in Clinical Trials gives you access to an audience showing clear intent, that simply does not exist anywhere else.
This event will highlight all aspects of language operations for clinical research: clinical trial protocols, informed consent, site documents, regulatory submissions and correspondence, labelling, IFUs, patient correspondence, and much more.
This event will highlight all aspects of language operations for clinical research: clinical trial protocols, informed consent, site documents, regulatory submissions and correspondence, labelling, IFUs, patient correspondence, and much more.
Top 5 sessions:
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Lost in Translation presented by Vera Maria Schnepf, Sandoz Translation Error Equals Artwork Error – Getting It Right the First Time presented by Shital Bhammar, Bluebird Bio. |
In-House Language in the Correspondence of a Clinical Trial presented by Donatella Ballerini, Chiesi Farmaceutici. |
Post Marketing Translation Considerations You Need to Know presented by Kristina Cole, Medtronic Sanofi's In-House Translation Services presented by Patricia Lefebvre, Sanofi |
About our Virtual events
Holding a virtual conference enables Arena International to create a secure environment for end users and vendors while delivering on what they have signed up for— a platform enabling knowledge sharing, networking and insights from peers to overcome specific challenges. This is an appropriate format to respond to the current global situation as evolutions are uncertain.
About Arena International
Arena International Events Group (part of GlobalData) welcomes over 10,000 business executives each year who attend over 80 of our events worldwide, they are addressed by over 1,700 industry leaders delivering leading edge content and discussion. Arena International’s events consistently strive to provide thought-provoking content and unrivalled networking opportunities, which add tangible value to those who attend. With comprehensive learning programmes, wide-ranging exhibitions and extensive networking activities we bring together industries to collaborate and learn. www.arena-international.com
Outsourcing in Clinical Trials 2021 handbook
The go-to guide for professionals in the global clinical outsourcing space Building on the world-renowned Outsourcing in Clinical Trials series, Arena International is proud to announce the arrival of the second Outsourcing in Clinical Trials Handbook.
www.arena-international.com/octhandbook/
For Further information, please contact:
Alex Fearn | Marketing Executive
Tel: +44 (0) 207 936 6436 | Email: alex.fearn@arena-international.com
Holding a virtual conference enables Arena International to create a secure environment for end users and vendors while delivering on what they have signed up for— a platform enabling knowledge sharing, networking and insights from peers to overcome specific challenges. This is an appropriate format to respond to the current global situation as evolutions are uncertain.
About Arena International
Arena International Events Group (part of GlobalData) welcomes over 10,000 business executives each year who attend over 80 of our events worldwide, they are addressed by over 1,700 industry leaders delivering leading edge content and discussion. Arena International’s events consistently strive to provide thought-provoking content and unrivalled networking opportunities, which add tangible value to those who attend. With comprehensive learning programmes, wide-ranging exhibitions and extensive networking activities we bring together industries to collaborate and learn. www.arena-international.com
Outsourcing in Clinical Trials 2021 handbook
The go-to guide for professionals in the global clinical outsourcing space Building on the world-renowned Outsourcing in Clinical Trials series, Arena International is proud to announce the arrival of the second Outsourcing in Clinical Trials Handbook.
www.arena-international.com/octhandbook/
For Further information, please contact:
Alex Fearn | Marketing Executive
Tel: +44 (0) 207 936 6436 | Email: alex.fearn@arena-international.com
Dr Niki Karavitaki talks to RARE Revolution Magazine for Acromegaly Digital Disease Spotlight
29/10/2020
As part of our “Acromegaly Disease Awareness Spotlight” we were honoured to speak with Dr Niki Karavitaki, Senior Clinical Lecturer in Endocrinology at the Institute of Metabolism and Systems Research in the University of Birmingham, and Honorary Consultant Endocrinologist at the Queen Elizabeth Hospital Birmingham where she co-leads the Pituitary Service and Pituitary Multi-Disciplinary team (MDT).
Dr Niki Karavitaki
| “Acromegaly is a challenging condition which starts right at the beginning with a diagnostic delay from start of symptoms to when it is formally diagnosed and can be appropriately treated. The clinical manifestations of acromegaly can develop for many years before it is realised that they are attributed to this condition and not to something else like aging, which is a common misdiagnosis. We do have appropriate tests, so once acromegaly is suspected it can be easily confirmed, however, delays in diagnosis translate to long term comorbidities which may not be reversible. | A further challenge is the management of disease. We do have some options in our armamentarium, surgery is one and is the main protagonist, plus radiotherapy and medical treatments which we can use alone or in combination. However, these are not always successful in achieving ‘remission’ as soon as possible. |
For surgery, the problem lies when the acromegaly causing tumour is large and is in proximity to structures that the surgeon cannot risk damage to without severe consequences. This means the surgeon cannot achieve full removal of the tumour giving patients the best chance of disease remission.
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Lack of surgical expertise is also a problem, unless there is a tertiary pituitary centre where patients can be referred. This gives the best chance of one or two surgeons being able to become experts in performing successful surgeries for patients with acromegaly and is something we actively try to support.
After non-successful surgical treatment, gaining control of the disease is more challenging. The patient then needs to follow a more complex treatment pathway which includes medications and, in some cases, radiotherapy. Acromegaly is a life-long disease which means a long and involved medical journey for patients.''
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The co-ordination of care in patients with acromegaly is vital for optimal outcomes and starts as soon as the diagnosis of this condition is established.
A number of specialties need to be involved (endocrinology, pituitary surgery, oncology, neuroradiology, neuroophthalmology, gastroenterology, respiratory medicine, to name a few). It is important to have a very clear protocol and management pathway that outline which systems and comorbidities need to be monitored and how often. Usually the endocrinologist would oversee and orchestrate this. It is also important that specialists with experience on the condition should be assigned to the patient and patients need to be seen in centres with appropriate expertise. In the UK we are lucky, because there is a good network of pituitary centres dealing with acromegaly.”
It would be good if there were more treatments on the horizon that would have better efficacy, minimum side effects and were more cost effective for payers
Unfortunately, not all treatments are effective for every patient, some are very costly, and none can reverse completely all the comorbidities or physical changes that occur after the development of acromegaly.”
''Mental health is an element we haven’t looked at systematically as clinicians. We have focussed to date on physical comorbidities and survival, but the question of quality of life and mental health have not attracted the attention it should do.
Studies with validated questionnaires looking at quality of life which include not just physical but also mental health and social, emotional and well-being aspects, show that patients with acromegaly are behind compared with controls from the general population. This is an area that needs more investigation.
| Patients with acromegaly have a lot to deal with, this is a condition that they will need to manage for the rest of their lives. They need to follow a medical pathway with various hospital visits and treatments. Co-morbidities that cannot be reversed, such as arthropathy mean that patients learn to live with often a great deal of daily pain. Acromegaly can also change the facial appearance. This occurs due to, soft tissue swelling and changes to the bones. The soft tissue swelling can go away after successful treatment, however, the bone changes do not go away, and these changes stay with the patient for the rest of their lives. This is an area where we can offer virtually nothing medically to reverse these changes and patients can experience problems with their body image, self-esteem, and confidence. | The impact to other areas of their lives, such as daily activities, professional activities, days off work for hospital visits is also a burden. |
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''I am an academic clinician, so my job combines research and clinical care. This is a very challenging but the most rewarding combination for me. We are involved in research in Birmingham for pituitary conditions including acromegaly. We are looking at correlates between treatments and outcomes and are trying to find biomarkers of diagnostic and prognostic significance.
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We are also involved in external collaborative studies both nationally and internationally for the development of new treatments and clinical trials. We are trying to promote health through research and good clinical services. |
“I liked a lot of things in medical school and even when I graduated, I enjoyed a number of specialities, so it was difficult to choose. However, the reason I chose endocrinology is because it is like mathematics.
It is very logical with the hormones having feedback mechanisms and the whole endocrine system working based on algorithms; it is so intelligent, wise, intellectually stimulating, fascinating and in many aspects still enigmatic. This is how I was attracted scientifically to endocrinology. |
Over the years I realised it is a beautiful specialty because you can be a true physician, looking at the patient as a whole, and at the same time, a real expert. It is an area in which you can see a true positive change in your patients, not in all cases, but in the majority anyway, and I really like this feeling of being obviously useful.
As for pituitary, it was really a series of events. I ended up doing a Masters on Neuroendocrinology at the Imperial College of London as I had a one-year gap. Without really knowing much about it, I thought it sounded quite fancy and that was how it started.
| I have also been fortunate enough to work with people who inspired me such as John Wass, at Oxford, one of the greatest mentors you could hope to work with. As doors opened, I stepped through which led me to Birmingham to further develop the Pituitary Service and Pituitary research here.'' | The joy I absorb when working in pituitary endocrinology is my main driver. |
“Acromegaly is a rare disease and because of this, the focus of healthcare systems and research is not as prevalent as with other more common conditions. I completely understand the need to meet the demands of, and the consequences of not supporting clinical practice and research in common conditions, but on the other hand, every human being, each patient’s life is valuable, no matter how common or not their disease is.
Society as a whole needs to show that it is inclusive and more focus on rare diseases and the people affected by them is one way to achieve this.''
Society as a whole needs to show that it is inclusive and more focus on rare diseases and the people affected by them is one way to achieve this.''
For Support and to find out more about acromegaly from our Digital Disease Spotlight campaign you can read and listen to Dan Jeffries story to find out how he was inspired to create something positive from his diagnosis. Kara LaFrance tells us how not giving up is the only option when it comes to her personal battle with acromegaly. We also speak with Dr Niki Karavitaki, Senior Clinical Lecturer in Endocrinology and Honorary Consultant Endocrinologist at the Queen Elizabeth Hospital Birmingham where she co-leads the Pituitary Service and Pituitary Multi-Disciplinary team (MDT) to gain her insights and perspective of the rare condition.
You can also read Our RARE Book review by David Rose, Loving large: A Mother’s Rare Disease Memoir is an insight into one rare disease family’s diagnostic odyssey. This book follows the journey of Patti Hall and her son with a rare form of acromegaly, called gigantism. Living life with a rare disease is complicated and getting the diagnosis is only a small part of that journey, if anything, it’s just the start.
You can also read Our RARE Book review by David Rose, Loving large: A Mother’s Rare Disease Memoir is an insight into one rare disease family’s diagnostic odyssey. This book follows the journey of Patti Hall and her son with a rare form of acromegaly, called gigantism. Living life with a rare disease is complicated and getting the diagnosis is only a small part of that journey, if anything, it’s just the start.
If you or someone you know has been recently diagnosed with acromegaly or if you are concerned by symptoms there are support services out there for you, no matter where in the world you reside. We have done our research and found the main acromegaly support services and created a resource to take the stress out of searching for support.
To get in touch with these support services you can use the buttons below:
| The Pituitary Foundation is the UK's leading national support and information organisation for pituitary patients, their families, friends and carers. They are the UK's leading charity providing support to people affected by disorders of the pituitary gland such as acromegaly, Cushing's, prolactinoma, diabetes insipidus and hypopituitarism. |   |
| Acromegaly support understand that 'living with acromegaly presents unique challenges for everyone involved. Wherever you find yourself on your personal journey, there are resources here to help you navigate these experiences together.' They have a great resources hub full of 'educational resources, and support communities that highlight the unique challenges faced by people living with Acromegaly and provide safe spaces to connect with others who are sharing similar experiences.' |   |
| Acromunity is a global organisation helping support acromegaly patients and families to adapt to living a normal life. 'Acromegaly is a long-term condition. Here you can find information about how people with acromegaly have adapted to their diagnosis of acromegaly and continued living a normal life with their condition.' Acromunity an online resource provided by Ipsen that provides information and support for people with acromegaly, their family and friends, and others who are interested learning more about the condition. Acromegaly Community have a mission 'to provide an emotional and communal support network for people touched by Acromegaly. We offer a central location for medical information on issues including: surgery, medication, radiation, and post diagnosis support. Most importantly, we work to provide a network of emotional support for our Acromegaly patients, their friends and their family.' Click the button below to find a interactive world map highlighting Acromegaly doctors in all countries so you can reach out. |     |
For Support and to find out more about acromegaly from our Digital Disease Spotlight campaign you can read and listen to Dan Jeffries story to find out how he was inspired to create something positive from his diagnosis. Kara LaFrance tells us how not giving up is the only option when it comes to her personal battle with acromegaly. We also speak with Dr Niki Karavitaki, Senior Clinical Lecturer in Endocrinology and Honorary Consultant Endocrinologist at the Queen Elizabeth Hospital Birmingham where she co-leads the Pituitary Service and Pituitary Multi-Disciplinary team (MDT) to gain her insights and perspective of the rare condition.
You can also read Our RARE Book review by David Rose, Loving large: A Mother’s Rare Disease Memoir is an insight into one rare disease family’s diagnostic odyssey. This book follows the journey of Patti Hall and her son with a rare form of acromegaly, called gigantism. Living life with a rare disease is complicated and getting the diagnosis is only a small part of that journey, if anything, it’s just the start.
You can also read Our RARE Book review by David Rose, Loving large: A Mother’s Rare Disease Memoir is an insight into one rare disease family’s diagnostic odyssey. This book follows the journey of Patti Hall and her son with a rare form of acromegaly, called gigantism. Living life with a rare disease is complicated and getting the diagnosis is only a small part of that journey, if anything, it’s just the start.
Today we are launching our brand new Digital Disease Spotlight. This is a week long campaign to shine a light on a specific disease or condition.
While diseases and conditions might be individually rare, the challenges they pose for those affected are common to people across the globe. These campaigns aim to educate, raise awareness and we hope that by sharing these campaigns with our powerful RARE community you can help us to highlight them and drive for change in research and treatment.
While diseases and conditions might be individually rare, the challenges they pose for those affected are common to people across the globe. These campaigns aim to educate, raise awareness and we hope that by sharing these campaigns with our powerful RARE community you can help us to highlight them and drive for change in research and treatment.
Creating a clear picture
Sometimes in the rare disease and medical world the sheer amount and different types of information available online can be overloading. Jargon and statistics can boggle the mind and you really need to know that what you are reading is from a reputable source. It can be difficult to decipher the complicated medical terms and percentages from the really simple yet ultra important things like 'what a condition is or why it happens, how you can identify it and what treatments are out there'. To tackle this we have pieced together all the basics and snipped them into one handy infographic. So next time you feel swamped by information overload you can refer to this resource and please share to raise awareness of acromegaly.
Acromegaly is a rare condition where the body produces too much growth hormone (GH), causing body tissues and bones to grow more quickly. Growth hormone is produced by the pituitary gland situated behind the bridge of your nose at the base of the brain. Acromegaly is caused by benign tumours of the pituitary gland which cause the over production of GH.
Symptoms of acromegaly develop slowly over time, leading to changes in the bone and soft tissue, particularly of the hands, feet, and facial features.
Acromegaly is usually diagnosed in adults aged 30 to 50, but it can affect people of any age. When it develops before the end of puberty, it is known as "gigantism".
Acromegaly can cause a wide range of symptoms, which tend to develop very slowly over time.
Please see the infographic below for more information.
Symptoms of acromegaly develop slowly over time, leading to changes in the bone and soft tissue, particularly of the hands, feet, and facial features.
Acromegaly is usually diagnosed in adults aged 30 to 50, but it can affect people of any age. When it develops before the end of puberty, it is known as "gigantism".
Acromegaly can cause a wide range of symptoms, which tend to develop very slowly over time.
Please see the infographic below for more information.
For more information about acromegaly from recommended sources please use the buttons below:
For Support and to find out more about acromegaly from our Digital Disease Spotlight campaign you can read and listen to Dan Jeffries story to find out how he was inspired to create something positive from his diagnosis. Kara LaFrance tells us how not giving up is the only option when it comes to her personal battle with acromegaly. We also speak with Dr Niki Karavitaki, Senior Clinical Lecturer in Endocrinology and Honorary Consultant Endocrinologist at the Queen Elizabeth Hospital Birmingham where she co-leads the Pituitary Service and Pituitary Multi-Disciplinary team (MDT) to gain her insights and perspective of the rare condition.
You can also read Our RARE Book review by David Rose, Loving large: A Mother’s Rare Disease Memoir is an insight into one rare disease family’s diagnostic odyssey. This book follows the journey of Patti Hall and her son with a rare form of acromegaly, called gigantism. Living life with a rare disease is complicated and getting the diagnosis is only a small part of that journey, if anything, it’s just the start.
You can also read Our RARE Book review by David Rose, Loving large: A Mother’s Rare Disease Memoir is an insight into one rare disease family’s diagnostic odyssey. This book follows the journey of Patti Hall and her son with a rare form of acromegaly, called gigantism. Living life with a rare disease is complicated and getting the diagnosis is only a small part of that journey, if anything, it’s just the start.