RARE Transition Edition Article intros and links: 

Full Edition Link: http://bit.ly/RARETransition 

Well, what a year! I think I can speak for us all when I say we won’t be lamenting the end of 2020—but nonetheless it has certainly been a year we won’t forget anytime soon, and one that future generations will learn about in history books. 

Editor’s Welcome  http://bit.ly/Transition-EditorsWelcome 

Perseverance, resilience, and kindness—Pamela Price is our RARE Inspiration

A self-proclaimed adrenaline-junkie, Pamela Price has certainly not let her diagnosis of Behçet’s disease stop her from challenging herself or striving to achieve her goals. She ploughs her energy into living each day to the full and into elevating the voice of the Behçet’s community. She is a shining example of the importance of positivity in life and displays incredible resilience and kindness in everything she does, and this is why we are proud to call her our RARE Inspiration

RARE Inspiration http://bit.ly/Trans-RAREInspiration 

It takes a village

There is a well known African saying—It takes a village to raise a child. Surely no more so is this the case than when raising a child with complex health needs. The origins of this saying refer to the role of extended families and local community in supporting a child as they grow, but for rare disease families there can be considerably more people whose significant role is paramount in the life of a child and as they transition into adolescence and adulthood. The xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD) patient populations in the UK are fortunate to have this village in the form of a dedicated NHS commissioned service. We caught up with their clinical teams to learn more about the work they are doing to support transition

Clinical Spotlight http://bit.ly/TransitionCL-Sp 

Striving for success for all

Simona Stankovska, founder of The Cavernoma Society, explains how they are arming schools and employers with the tools and all-important understanding to ensure a smooth transition for the individuals they support, to ensure everyone can reach their potential in a supported academic or workplace environment

Cavernoma Society—Striving for success for all http://bit.ly/Transition-Ch-Sp 

Pulse Infoframe—setting the standard in rare disease registries

Since 2011, Pulse Infoframe has been designing solutions which accelerate rare disease research and create lasting inter-sector partnerships across the globe. The company is known for its feature-packed disease registry solutions, which are used by organisations around the world, including researchers from some of the planet’s biggest and best known research institutes

Pulse Infoframe—setting the standard in rare disease registries http://bit.ly/Trans-RareRegistries 

RARE Transition Introduction 

The term transition has many meanings in many differing situations. But what does transition mean in the context of rare disease? RARE Revolution editor Nicola Miller explores

RARE Transition Introduction http://bit.ly/Transition-Intro 

Health psychology—view on patient transition Part 1: finding balance

There are many key transitional phases in the human experience, but few can be more formative than the transition from childhood into adulthood. This transition can be particularly impactful for individuals who are affected by rare and complex health conditions. Health psychology is the study of the interplay between psychological, behavioural, cultural and environmental factors and their direct and indirect effect on an individual’s health. Here, clinical health psychologists Sumira Riaz, who works for the patient engagement team, OPEN Health and in clinical practice in the UK NHS, and Samuel Agyei Wiafe, clinical psychologist and founder of Rare Disease Ghana Initiative, Ghana, talk about their role in supporting patients through this transition and the lessons that can be learnt for improved patient outcomes

OPEN Health – Health psychology—view on patient transition Part 1: finding balance  http://bit.ly/Trans-OH-HealthPsychology1 

Health psychology— view on patient transition Part 2: challenging cultural perceptions

Due to socio-economic, societal and cultural factors, Ghana faces unique challenges in supporting families through this important life stage, particular with regard to the provision of psychological support. Samuel, clinical psychologist and founder of Rare Disease Ghana Initiative, explains the challenges

OPEN Health – Health psychology—view on patient transition Part 2: challenging cultural perceptions http://bit.ly/35mRjbL 

Supporting adolescents with rare disease— round-table discussion

Word Orphan Disease Congress 2020—round table discussion on better supporting adolescents with rare disease through medical transition—hosted by Gavin Jones, director of rare disease, OPEN Health a global healthcare communications, evidence and access agency with significant investment in better outcomes for rare disease. Gavin recently hosted this round table discussion at the World Orphan Drug Congress, where he delved into the topic of transition with those who have been through or are about to enter the transition maze and with professionals involved in supporting the process

OPEN Health – Supporting adolescents with rare disease— round-table discussion http://bit.ly/Trans-OH-SupportingAdolescents 

Six-in-Ten with Gidon Goodman

I first became aware of Gidon a few years back and was impressed by the positive impact he was having on health policy in Australia. Its young people like him that will shape the future growth of rare advocacy, and the transition edition seemed to be the perfect opportunity to share his story!  Gavin Jones interviews Gidon Goodman

OPEN Health – Six-in-Ten with Gidon Goodman http://bit.ly/Trans-Six-In-Ten 

Little fish who can’t climb trees

If you were to ask any parents who have school-aged children with additional needs what they worry about most when it comes to their education, you would be given a multitude of answers which are questions in themselves. Are they coping in school? Do they have the right support? Are their needs being recognised and met? Are they in the right school? How do we work with school to fix a problem? Who do I go to for help? What are our rights here? Am I doing this right? These are the things that keep us parents awake at night because we know our children’s future is in our hands. All we ever want is for our children to be given the support needed so they can thrive and grow. But what most don’t realise is the fight we special needs parents have on our hands to make this happen. This is Emmy Kelly’s story…

Little fish who can’t climb trees http://bit.ly/3bmkU8H 

Lived experience— transition into adulthood

José Ángel Aibar, president of Dravet Syndrome Foundation Spain, provides an overview of the landscape for medical transition in Spain, and introduces the families of Iván, Alba, Ibai and Beñat, Ander and Marcos, who explain in their own words what transition looked like for them…

Lived experience— transition into adulthood http://bit.ly/35o8c5D 

My Family, Our Needs

Since its inception, My Family, Our Needs has been an important support resource for parents and carers of young people with disabilities and additional needs. Here, we find out more about this philanthropic platform and its events

My Family, Our Needs http://bit.ly/39avUne 

Spotlight on the ‘COVID generation’ and transitional healthcare for young people

Laurence Woollard, director of On the Pulse, and influential health advocate Simon Stones talk about the unique challenges facing the ‘Covid generation’ and the role we all need to play in making sure it doesn’t become a marginalised generation with regard to transition

Spotlight on the ‘COVID generation’ and transitional healthcare for young people http://bit.ly/Trans-CovidGeneration 

Rare Patient Voice – connecting patients to research

Founded in 2013, Rare Patient Voice are connecting patients with the opportunity to share their lived experiences with researchers, drug companies and device manufacturers and, in doing so, are driving improvements in rare disease healthcare. We caught up with Vice President Pam Cusick to find out more about their commitment to patient-driven research

Rare Patient Voice – connecting patients to research http://bit.ly/Trans-RPVConnectingPatients 

RARE Youth Advice

Top Tips for RARE Transitions. Guidance from the RARE Youth Revolution team: How to manage life’s transitions as a young person with a rare disease

RARE Youth Advice. Top Tips for RARE Transitions http://bit.ly/38pq9m9 

Illuminating RARE talent with the RARE Youth Revolution

Daisy Marriott, communications assistant and youth editor at RARE Rev, talks about her transition from an internship to a rewarding career and the exciting workplace opportunities on the horizon for the rare youth community!

Illuminating RARE talent with the RARE Youth Revolution http://bit.ly/2LfmZsr 

Inspiring Hearts, Engaging Minds

The Inspiring Hearts, Engaging Minds programme, from The Muscle Help Foundation, was designed to give a group of young people with muscular dystrophy a voice within the context of the world of work. It is a perfect example of a project helping young people with a rare disease navigate the transitional path from the teenage years to adulthood. RARE Revolution are proud to be able to share this wonderful project showcasing its objectives and successful outcomes

The Muscle Help Foundation – Inspiring Hearts, Engaging Minds http://bit.ly/2XoWzqU 

Recasting the ‘Rare’ story

Rare disease came into Avantika Shrivastava’s life at 17, a key point of transition in any young person’s life. Avantika, from New Delhi, India shares her personal experiences of how she managed her medical, school, work and life transitions while managing her rare and complex health condition, how she has learnt to reframe her own mindset around her condition, and now uses her experiences in the field of strategic communications for social change

Recasting the ‘Rare’ story http://bit.ly/35mWt7m 

Finding the strength to be heard

Rebekah Palmer has lived a life with rare disease from a young age and naturally transitioned to taking control of her own condition and medication in her early teens. Despite now being an adult and an expert in her condition, she feels her voice is often marginalised over that of the caregiver and that support and representation for adults with a rare disease is lacking. She talks to RARE Revolution about how this has shaped her life and how she is speaking out for change

Finding the strength to be heard http://bit.ly/3q2mHE2 

A comprehensive transition programme—support every step of the way

Dr Saikat Santra is a consultant in clinical inherited metabolic diseases. He specialises in paediatric and adolescent services at Birmingham Women’s and Children’s NHS Foundation Trust, where he has worked for nine years. With a particular focus on the rare genetic disorder familial chylomicronaemia syndrome (FCS), Dr Santra talks about his department’s transition process from paediatric to adult services, and demonstrates how the progression can be a positive and empowering experience rather than one to be feared

Akcea; A comprehensive transition programme—support every step of the way http://bit.ly/TransitionProgramme 

Learning to let go

The process of transition happens not just to the individual but to their families; in particular, parents. Learning to let go for parents is a process for any family, but when your child has grown up with serious and complex health needs this process can be all the harder. Husband and wife, Debbie and David Rose senior, along with their son David junior, talked to our editor Nicola Miller, about how they have navigated this process together

Learning to let go http://bit.ly/2MP8Djf 

Finding my new purpose

With a life in the military and varied operational experience Daniel (Dan) Shockley has lived a life of great purpose for his fellow Americans and country. On transitioning into retirement Dan, has turned his purpose towards advocating for others living with the rare disease familial adenomatous polyposis (AFAP) living by his condition inspired mantra-Always Forge Ahead with Purpose (AFAP)

Finding my new purpose http://bit.ly/3btkkWK 

Rareminds—tackling the emotional burden of rare disease

Rareminds is a newly launched not-for-profit company set up by psychotherapist Kym Winter as a new mental health and emotional wellbeing hub for the rare disease community. Her team have been providing specialist online and telephone counselling and wellbeing services, workshops and training for a small number of rare disease charities and healthcare professionals since 2014. Rareminds grew out of their awareness that rare disease patients generally were asking for more acknowledgment of the psychological challenges in living with a rare disease and resources to help. They are passionate about integrating mental health and emotional wellbeing support into rare disease healthcare

Rareminds—tackling the emotional burden of rare disease http://bit.ly/Trans-RareMinds 

Resident Columnist, Richard Gelati brings you this editions #RARERamblings

Richard is a veteran of rare disease having lived with CIDP for nearly 40 years. Richard writes exclusively for RARE Revolution, and his column is an insightful and often humorous musing on life with a rare disease. We hope you enjoy his RARE Ramblings! Life’s work

RARE Ramblings – Life’s work http://bit.ly/Trans-RARERamblings 

Industry Insights with columnist Jonathan Morton of Comradis 

Transition of care: a risky business

Industry Insights http://bit.ly/Trans-IndustryInsights 

The Transition to Precision Medicine “One Size Fits All” to “My Medicine”

Columnist and RARE Tech guru Sean Gordon brings us his column, The Transition to Precision Medicine “One Size Fits All” to “My Medicine”

The Transition to Precision Medicine “One Size Fits All” to “My Medicine” http://bit.ly/Trans-RARETech 

The Virtual Rare Disease Showcase is Findacure’s most successful event yet!

On 17-19 November, Findacure held its most successful event yet—The Virtual Rare Disease Showcase.

The Virtual Rare Disease Showcase is Findacure’s most successful event yet! http://bit.ly/3bmkU8H http://bit.ly/3hXltqM 

International TSC Research Symposium 2020 – Filling the gap!

The International Tuberous Sclerosis Complex (TSC) Research Conference is held annually to bring together academics, healthcare professionals, industry, patients and patient reps from around the world to share their knowledge and experience and to learn about new and exciting developments in TSC research.

International TSC Research Symposium 2020 – Filling the gap! http://bit.ly/38oEi34 

Happy 1st Birthday to The Schinzel-Giedion Syndrome Foundation!

13 November 2020 marked one year since The Schinzel-Giedion Syndrome Foundation was registered as an official charitable organisation with the Charity Commission in the United Kingdom. Our Foundation was created to represent children living with Schinzel-Giedion syndrome (SGS) and their families all over the world. One of our missions is to raise awareness of SGS as a rare disease. This mission led us to establish the very first International SGS Awareness Day. What better way to celebrate our Foundation’s birthday?

Happy 1st Birthday to The Schinzel-Giedion Syndrome Foundation! http://bit.ly/3nnkrFX 

Jackson Superhero by Darren Garwood

Our RARE book review by Emma Bishop. Darren Garwood created a children’s book series called Jackson Superhero about a little boy who has no powers in the day but at night, when weightlessness takes over and he sinks into his dreams, he becomes a superhero.

Jackson Superhero by Darren Garwood http://bit.ly/35msCfc 

The forces of collaborative creativity by Peter Comber

Our RARE book review by Nicola Miller. A practical guide to creative teamwork in the healthcare business.

The forces of collaborative creativity by Peter Comber http://bit.ly/3bmZKYe 

Ataxia and Me. Charities helping charities

RARE Revolution’s Charity Partner, Ataxia and Me, has always focused on patients helping patients, but in 2020 they have found charity helping charity has become increasingly important too

Ataxia and Me. Charities helping charities http://bit.ly/38pdAY8 

Digital spotlight overview http://bit.ly/DS-Trans-Acromegaly 

Rare Revolution (rarerevolutionmagazine.com)