Launched in 2017 by independent not-for-profit publishers NRG Collective Ltd, creators of Rare Revolution magazine, this annual programme works with the young rare community to ensure their voices are heard through the creation of their own dedicated Youth Magazine. Giving complete control of topics, assignments and design to the young editorial team The Rare Revolution Team in collaboration with the RareTogether project support all aspects of their journey to support the successful launch of their final publication. The 2017/18 Youth Team out and about on assignment We are proud to continue our support of this great initiative, as part of Sobi’s commitment to the rare disease community. It is wonderful to see such a brilliant 2017/2018 Rare Youth issue of the magazine, and to hear from the vital and vibrant young voices which make up the community. We would encourage as many young people as possible to get involved in the coming year, to share their stories, and continue to build on the success of the #RareYouthProject Neil Dugdale, General Manager, SOBI UK and Republic of Ireland The #RareYouthProject recently celebrated Great Ormond Street Hospital hosting the 2017/18 Rare Youth Edition through all 415 of their bedside interactive screens allowing an extra 40,000 young people each year to have access to this resource. http://www.rarerevolutionmagazine.com/blog/great-ormond-street-hospital-join-the-rare-revolution “The project’s aim is not purely about ‘powering up young voices’ but also provides participants with valuable real-life work experience often not available to young people with complex health needs as well as an opportunity to meet other young people who share their challenges. We are thrilled to have Sobi’s support with our 2018/19 project.” Rebecca Stewart CEO NRG Collective Ltd. The 2017/18 Rare Youth Issue can be read by clicking the front cover below.  If you would like to find out more about supporting this year’s #RareYouthProject please contact Rebecca on rstewart@nrgcollective.co.uk About NRG Collective Ltd. An independent not for profit company NRG Collective Ltd are dedicated to making rare voices heard. Through their free publications Rare Revolution and the Rare Youth Edition they are raising awareness and providing valuable information for the whole rare disease community. About Sobi Sobi is an international rare disease company dedicated to providing access to innovative treatments that make a significant difference for people with rare diseases. We have two business areas: Haemophilia and Specialty Care. Our research and product portfolio is primarily focused on haemophilia, inflammation, and genetic and metabolic diseases.
The United Kingdom and Republic of Ireland team is based in Cambridge and have been rated as the best company in Haemophilia in the UK through an annual independent survey in 2016 and 2017 and one of the UK’s great places to work in 2017.
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Cameron, aged 16, who has a rare form of Muscular Dystrophy and other conditions, was picked from hundreds of nominations from across the UK to win the category of Inspirational Young Person in these awards which celebrate the courage of children coping with serious illnesses or complex conditions and honour the dedication of professionals who go the extra mile to help sick children and their families. The awards are run by WellChild, the national charity for seriously ill children. Cameron will be one of the stars of the show at September’s high profile Awards ceremony, which has been attended over the past few years by Royal Patron, HRH The Duke of Sussex and many of the charity’s celebrity supporters.
Since the moment he was born Cameron has been a fighter. At birth his prognosis was not good. He was not expected to live long and even if he survived he would not be able to walk, talk or eat. But he started doing all the things some medical professionals said he would never do, he also battled illness after illness but came through every time. Cameron has since gone from strength to strength but when he was 11 he suffered a breakdown which has left him with severe OCD and anxiety. Cameron has also recently been diagnosed with a rare form of autism. However he is battling on and has achieved so much, although school and education is incredibly challenging for him he never gives up. He is a junior political editor for Rare Revolution magazine (youth edition) which launched in March and has been to both Scottish and English Parliament to interview Nicola Sturgeon and Andrew Bowie MP. He has a passion for war history and he also plays Power Chair football for The Villa Rockets. With the right support, he hopes to go to college to do computer game design or political journalism. Cameron’s mum Nikola Trevalyan-Blake who nominated him for the WellChild Award, said: “He’s funny, courageous, clever and determined and I could not be more proud. I so want him to see and believe how very special he is and have that belief in himself and realise just how far he has come and should be so proud of what he has achieved and gone through.”
Speaking at the 2017 WellChild Awards, The Duke said: “These awards were created to shine a bright light on an amazingly brave group of children and young people, on their lives, and on the resolve they and their families have shown to overcome challenges. Life for families caring for seriously ill children is exceptionally tough. And without WellChild it is even tougher. “Over the years, the WellChild Awards has played a huge part in highlighting what these families need, and the support that is desperately needed to meet the ever-increasing demand.” With hundreds of nominations received from across the country, the difficult job of choosing winners in all WellChild Award categories is given, each year, to an esteemed panel of judges. That panel consists of leading health professionals and others with an interest in children’s health and includes children and young people who face serious illness themselves. These awards were created to shine a bright light on an amazingly brave group of children and young people, on their lives, and on the resolve they and their families have shown to overcome challenges. Royal Patron, HRH The Duke of Sussex WellChild’s Director of Programmes, Linda Partridge, is also a member of that panel. She said: “It is a tremendous challenge to select winners from the many, many truly amazing nominations we receive from all over the country. All the panel members are moved by the bravery of the children, the stories of selfless care and support and the dedication of the doctors, nurses, teachers, brothers and sisters who make a great difference to the lives of seriously ill children and young people. Cameron truly deserves to be the winner of this award. “The Awards, in association with GSK, are a perfect demonstration of WellChild’s commitment to helping as many seriously ill children and their families as we can and embody our aim of raising awareness of their needs.” Cameron will receive his award at the annual WellChild Awards ceremony in London this September. At this star-studded event, Cameron will meet a host of WellChild celebrity supporters, who attend each year to celebrate the courage of brave children and honour the dedicated work of the country’s health professionals. In addition to HRH The Duke of Sussex, previous WellChild Award evenings have been attended by Rapper Stormzy, Magician Dynamo, rock legend Rod Stewart with his wife Penny Lancaster Stewart, comedian Russell Howard, pop singer Pixie Lott, actress Barbara Windsor, pop band Scouting for Girls, Dragon’s Den star Duncan Bannatyne and many more. About WellChild WellChild is the national charity for seriously ill children, committed to improving the quality of life for children across the UK with serious illness, or exceptional health needs. Many of these children spend months, even years in hospital simply because there is no support enabling them to leave. WellChild exists to ensure they are given the best chance to thrive – at home, together with their families. The charity, which has Prince Harry as its Patron, funds numerous programmes aimed at ensuring that children can be cared for at home with their families wherever possible:
For more information, please see www.wellchild.org.uk Chris Hill – WellChild Tel: 01242 530007 Email: chrishill@wellchild.org.uk Isobel McFarlane – WellChild Tel: 07803 906816 Email: isobelmcfarlane@wellchild.org.uk / isobel.mcfarlane@btconnect.com About GSK A science-led global healthcare company with a special purpose: to help people do more, feel better, live longer. We have three world-leading businesses that research, develop and manufacture innovative pharmaceutical medicines, vaccines and consumer healthcare products. Our goal is to be one of the world’s most innovative, best performing and trusted healthcare companies. GSK media enquiries – 020 8047 5502.
The #RareYouthProject is an initiative run by NRG Collective Ltd a not for profit independent publisher specialising in rare disease publications, education, signposting and community building. The #RareYouthProject involves children and young people affected by rare disease in the creation of their very own magazine. “This very special issue no. 1 is the creation of a team of 10 young people all passionate about having their voices heard. Young people affected by rare disease spend a lot of time having other people make decisions about them when it comes to their health and their own bodies and this outlet has been a wonderful way for these young people to gain some control and talk about the issues that are important to them” Rebecca Stewart CEO NRG Collective Ltd. “Our pilot team met in early 2017 to discuss the direction of the magazine and plan their dream assignments. We were amazed by the depth of the subjects they wanted to cover. With interviews with Government leaders, celebrities and Pharmaceutical leaders on their list, we had to work hard to make this a reality for them. I cannot tell you how proud we are of each and every young person who contributed. “The finished magazine is outstanding and testament to the hard work and passion that each member of the youth editorial team put into the project.” Nicola Miller Creative Director and Youth Co-ordinator. The project’s aim is not purely about “powering up young voices” but also provides participants with valuable real-life work experience often not available to young people with complex health needs and an opportunity to meet other young people who share their challenges. Rebecca Stewart explains “Very early on our pilot team identified isolation and lack of meaningful work experience as significant challenges that they wanted this project to mitigate against. Through joint assignments, mentoring, team meetings and a dedicated youth event we were able to significantly work towards this. Many of our team will be staying on to become youth mentors, contributors and bloggers for next year’s project and several have formed friendships which have lasted outside of the project.” With GOSH providing access to #RareRevolution, thousands of children admitted each year will now be able to enjoy the free publication for young people by young people. " We hope that this year’s team will be bigger and better and that the #RareYouthProject will be powering up young voices for years to come Nicola Miller Creative Director and Youth Co-Ordinator Join the #RareYouthProject If you are a young person aged between 8 and 23 years old and would like to find out more about being involved in this year’s project email Nicola on Editor@rarerevolutionmagazine.com If you would like to find out more about sponsorship opportunities with the #RareYouthProject contact Rebecca on rstewart@nrgcollective.co.uk About NRG Collective Ltd.
An independent not for profit company NRG Collective Ltd are dedicated to making rare voices heard. Through their free publications Rare Revolution and the Rare Youth Edition they are raising awareness and providing valuable information for the whole rare disease community. One of the first patients to sign up to the 100,000 Genomes Project has received a diagnosis for his rare genetic condition after years of speculation.The family of Alex Masterson, 19 from Rochester in Kent, discussed the benefits of his correct diagnosis as the Department of Health and Social Care, NHS England and Genomics England announced that the project has reached its halfway point, with 50,000 genomes now sequenced from patients across the country.
Through the years Alex has had 28 operations including the removal of multiple benign tumours, several bouts of heart surgery, stomach surgery, dental work and operations on his feet. His mum Kirsty, 46, said: “Although Alex ticked many of the boxes for Noonan syndrome, he did not have a mutation in the genes usually known to cause the condition so we never knew exactly what he had. It was very difficult in the early years because we wanted to know what it was so that we could prepare ourselves and deal with it.” Dr Melita Irving, consultant clinical geneticist at Guy’s and St Thomas’, told the family about the 100,000 Genomes Project in 2014 and they enrolled Alex straight away.
The project involves sequencing 100,000 genomes from people who have a rare disease or cancer. Your genome is your body’s instruction manual. It is made up of DNA and there is a copy in almost every cell. The aim of the project is to create a new genomic medicine service for the NHS – transforming the way people are cared for. Kirsty, who works in a bank, said: “It was a complete no brainer to join the project because it was finally an opportunity to get an accurate diagnosis for Alex.” Sequencing of his genome revealed that Alex has a related rare genetic disorder called Leopard syndrome, also known as Noonan syndrome with multiple lentigines (NSML). Kirsty, a mother-of-two, continued: “I cried when we got the diagnosis because it was such a relief to have an answer. Although it won’t change his life expectancy or treatment options, it has given us closure after spending so many years wondering and might help other people in the future. “If Alex had been able to have the test as a baby we could have been prepared for what was to come and avoided years of diagnostic tests and uncertainty.” Alex recently started an internship as a support worker at an activity centre for adults who require support. He said: “I really enjoy the job and have been able to prove to people that I have lots of skills and can do it with my head held high. “The diagnosis has helped my parents a lot because it’s been very hard for them to watch me going in and out of hospital not knowing the cause behind it. For me, it’s all just a part of my life.” Dr Irving said: “We had reached the limits of the genetic tests available and we still had no answers for Alex and his family as to why this was happening to him, so when the 100,000 Genomes Project came along we leapt at the chance to enrol Alex. “The project is transforming genetic testing in the NHS, not just for families with a rare disease like Alex, but also for people with cancer and other medical conditions, helping to inform decisions about the most effective treatment for them.”  Thirteen Genomic Medicine Centres (GMCs) have been established by NHS England since 2014 to help deliver the 100,000 Genomes Project.
Guy’s and St Thomas’ NHS Foundation Trust leads the South London GMC, which involves King’s College Hospital NHS Foundation Trust, South London and Maudsley NHS Foundation Trust and St George’s University Hospitals NHS Foundation Trust. The South London GMC has partnered with Royal Surrey County Hospital NHS Foundation Trust, Frimley Health NHS Foundation Trust and Maidstone and Tunbridge Wells NHS Trust to cover the population of south London, Kent, Surrey and Sussex. So far, the South London GMC has recruited more than 7,000 people to the 100,000 Genomes Project and is one of the highest recruiting GMCs in the country.
Myalepta is a treatment for the ultra-rare condition, lipodystrophy, and has been approved as an adjunct to diet as a replacement therapy to treat the complications of leptin deficiency in lipodystrophy patients. With this authorisation, Myalepta becomes the first and only licensed medication to treat the underlying leptin deficiency at the heart of this ultra-rare condition. Professor Sir Stephen O’Rahilly, Professor of Clinical Biochemistry and Medicine at Addenbrooke’s Hospital, Cambridge, said, “Lipodystrophy is a rare condition which, due to its complex nature, requires highly specialised treatment. Patients with lipodystrophy have previously relied on lifestyle changes and medications, like insulin injections to manage the condition’s associated complications. Today’s milestone marks a significant change in the way lipodystrophy is treated. For the first time, we will be able to offer patients in Europe a treatment option that addresses one of the fundamental aspects of the condition itself.” For the first time, we will be able to offer patients in Europe a treatment option that addresses one of the fundamental aspects of the condition itself.” Professor Sir Stephen O’Rahilly, Professor of Clinical Biochemistry and Medicine at Addenbrooke’s Hospital, Cambridge Rebecca Sanders, Founder and Chair of Lipodystrophy UK, said, “Lipodystrophy presents multiple ongoing challenges, both physical and psychological, to individuals living with the condition. Current available treatment options have been limited, address only some of the complications of the condition and are not specialised for lipodystrophy. Myalepta offers a long-term solution for patients and we are delighted that there is now a treatment available specifically to treat the complications of leptin deficiency in lipodystrophy which will give patients a much needed option to help improve both their disease and their quality of life.”
Rebecca Sanders, Founder and Chair of Lipodystrophy UK Lipodystrophy is an ultra-rare and incurable disease which impacts a person’s ability to store fat in their body, and can either be generalised (GL) or partial (PL).[i] The condition is associated with a number of critical metabolic problems, such as severe diabetes, and can cause severe organ damage if uncontrolled.[ii] Globally, lipodystrophy affects approximately between 1 and 4 people per million.1 Paul Greenland, President EMEA at Aegerion Pharmaceuticals, said, “We are thrilled that patients with lipodystrophy in Europe will now have a specific treatment option. This also represents an exciting time for Aegerion as Myalepta becomes available in one of the largest global pharmaceutical markets. We will work collaboratively with patient organisations, health care professional and health services across Europe to enable access to as many patients as possible [i] Chiquette, E., et al. Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges. Diabetes Metab Syndr Obes, 2017. 10: p.375-383. [ii] Pope, E., et al., Childhood acquired lipodystrophy: A retrospective study. Journal of the American Academy of Dermatology, 2006. 55(6): p. 947-950. CONTACT:
Charlotte Dawkins, Consultant, Patient Advocacy and Communications Aegerion Pharmaceuticals 07932 722950 charlotte.dawkins@aegerion.com Harriet Reynolds, Senior Account Manager Reynolds-MacKenzie 07384 438631 HarrietR@ReynoldsMackenzie.com |
