WINTER 2023
Metabolic Matters YOUR QUARTERLY MSUK MAGAZINE
Find out how you can join #TeamMSUK for the 2024 London Marathon. Page 15
Our Community Conference, Page 3-5 Find out more about our new campaign, ‘Think Ammonia’, Page 9-10 Meet the new member of the team and our trustees, Page 11-13
What’s New?
CONTENTS Page 2
CEO Foreword:
Page 3-5
2023 Community Conference: A Sneak Peak
Page 6
Thoughts into Action Advert
Page 7-8
What Else Have We Been Up To?
Page 9-10
Think Ammonia: Our Hyperammonaemia Campaign
Page 11-12
Meet Our New Trustees
Page 13
New to the Team: Meet Our Head of Insight & Advocacy
Page 14
How Can You Help? Easy Fundraising and the 2024 London Marathon
Page 15
Get in Touch & Wordsearch
Happy holidays from the whole team at Metabolic Support UK. However you are spending the holiday season this year we wish you all the best. Our offices will be closed, including our phone lines, from December 22nd through to January 3rd in the new year. You are welcome to leave us a voicemail, send us an email, or drop us a message on social media whilst we are away. We will pick up any messages once we are back in the new year. We are looking forward to another year working alongside you all, supporting the inherited metabolic disorder community. Best wishes, from the MSUK Team.
CEO Foreword 2023 has been a year of questions and active listening. We launched and produced our Thoughts into Action report which asked you, our IMD community, what quality of life means to you. Your stories will drive the next phase of our work. You told us that ‘Living well with an IMD’ was the key to good quality of life and we will embed that in all we do. Good relationships with our community, healthcare professionals, corporate partners and other IMD patient groups have been key to understanding where we are needed the most and we thank you all for your time and commitment to our cause. In 2024 we will focus on action, on drawing our community closer to our work and to being increasingly present and available in online and physical spaces. We look forward to working with you all. Kirsty
Page 3
Community Spotlight
Our 2023 Community Conference A sneak peak into how our 2023 Community Conference went at the end of November! Thank you again to everyone who attended and supported our 2023 Community Conference in November. The day couldn’t have been as fantastic without you! We are excitedly creating an overview of the day that we can’t wait to share, pulling together insights and responses from the day. But we wanted to give you all a sneak peak of the day! We had a lovely time, and it looks like you did too. Our early survey results show that attendees gave the day 4.4 out of 5 on average.
4.4
How did people describe the day?
And that is not surprising! The day was truly informative and jam-packed with sessions covering our Metabolic Connect, finances and support services, as well as a roundtable on hyperammonaemia and an interactive session on clinical trials.
The conference was incredibly interesting and we are so grateful to be a part of it.
Page 4
Community Spotlight
We worked closely with the venue and Chloe Millington, a Highly Specialised Metabolic Dietitian at Great Ormond Street Hospital, to put together a delicious lunch appropriate for our metabolic community! During break times, or if you just weren’t feeling the love during one of the sessions, people were invited to do some crafts, take part in our fab activities, or explore our venue, the ThinkTank Science Museum.
And the poll results are in!
15% 17%
25%
What areas matter most to you?
19%
25%
Access to medicines and clinical trials Support and information Mental health Financial Support Education and employment
Page 5
Community Spotlight
Thanks so much for attending! We hope you enjoyed it as much as we did. If you did attend, but haven’t shared your feedback yet, please do let us know what you thought of the event by filling in our short survey by clicking here! Missed it? Let us know why you couldn’t make it by clicking here instead. We need your feedback to help us plan for 2024 and beyond.
Finally, our conference couldn’t have happened without our conference sponsors – special thanks to:
Gold
Silver
Bronze
Page 6 Grab your favourite festive treat and take some time over the holidays to learn what the IMD community had to say about quality of life.
You don't have to look down at me. Like, I'm a human being. I'm still, you know, living and breathing. I'm just sick. Or you know, I have a medical issue. [That] doesn't make me any less of a human being. Available in five formats, there’s something for everyone, whatever your preferences or needs! From Audio and BSL to EasyRead, PDF, and Plain Text
Page 7
MSUK News
What else have we been up to? Hear about other things we have been busily working away on recently that you may have missed.
Train Ticket Offices to Remain Open Did you hear earlier this year there was a government plan to close rail ticket offices? We were extremely proud to be one of the over 50 organisations to act as signatories on a letter created by Transport for All that was addressed to London TravelWatch and Transport Focus which condemned the closure of almost 1000 ticket offices across England. Ticket offices are one of the most vital accessibility features at train stations and their closure would have impacted everything from the ability to buy tickets, receive assistance, access site facilities, navigate the station, plan routes, and feel confident in making journeys.
Read more in Transport for All’s article to learn exactly how this victory was achieved, what comes next, and the impact you and your voice can have.
We thank Transport for All for leading this incredible initiative and will continue to work collaboratively with wider organisations to ensure our IMD communities are not unfairly disadvantaged!
New Year, New Connections! Connection was at the heart of our Community Conference, it was fantastic to have the chance to Connect, Live! with all of you. But the connections don’t have to end there. Join our relaunched Metabolic Connect programme to keep the party going. Metabolic Connect is our free programme which connects people with the same or similar conditions or other commonalities with each other, on a one-to-one basis. Head into the new year with a new experience. Whether you’re new to the world of IMDs you’re a seasoned expert, or you’re somewhere in the middle, we would love to hear from you. Register through our website, here, to find out more and join! A member of the team will contact you.
Page 8
MSUK News
What else have we been up to? Hear about other things we have been busily working away on recently that you may have missed. As with every year, 2023 has been a busy year. We wanted to take the chance to highlight some bits of work from the last few months to show you the kind of things we get up to! Did you know we work with others to help you access relevant research? We have been working with industry partners to recruit people for Aparito’s feeding and eating evaluation study and Ultragenyx’ clinical trial for children and adolescents living with LC-FAOD. Both of which are still recruiting. We respond to consultations and statements all year round, ensuring the IMD community is represented You may have seen our response to the Autumn statement, breaking down what it means for the IMD community. But you maybe haven’t heard of the consultations we have responded to. We used our learnings from you in Thoughts into Action to respond to a NICE consultation about transition from paediatric to adult care. MSUK feedback has led to changes being implemented! Have you heard about the Adult Rare Bone Disease Network that recently launched? We supported the launch! This network aims to improve the lives of adults living with rare bone diseases and is one of 18 currently approved Rare Disease Collaborative Networks (RDCNs). Find more on our website. We are looking forward to continuing working with you all throughout 2024!
We also work with other patient organisations to represent you in Health Technology Assessments We have been working with Cystinosis Foundation UK on the assessment of procysbi by the Scottish Medicine Consortium, and XLH UK on the assessment of burosumab by NICE. We are also gearing up for the assessments of new treatments for MoCD type A and ARG1 deficiency by NICE. We are an international organisation, always working to strengthen our ties Despite the ‘UK’ in Metabolic Support UK, we offer support to people living with and affected by IMDs across the globe. We are working on something exciting in the international space and are looking forward to sharing more with you in the new year. Do you remember our e-module ‘Are You Research Ready?’ We have been working on the launch of our e-module to help you understand the life cycle of research and drug development. We’re excited to share we are in the process of developing a further three modules!
Page 9
Campaign: Hyperammonaemia
Think Ammonia See what our Hyperammonaemia Survey told us and the work it has led to, including a new campaign Hyperammonaemia is a medical term used to describe a state in which levels of ammonia in the blood get dangerously high. If untreated, hyperammonaemia can lead to seizures, coma, brain damage, and even death. This state is a risk for certain groups of Inherited Metabolic Disorders (IMDs), including Urea Cycle Disorders, Amino Acid Disorders, and some Fatty Acid Oxidation Disorders. Hyperammonaemia has always been a key issue for these communities, with many sharing their personal experiences, including serious adverse effects and events, to raise awareness and incite change. Every story clearly demonstrates the importance of rapid and accurate ammonia testing. Throughout the years, this importance has continued to be reiterated through high-profile cases, such as the recent case of Rohan Godhania. So what are we doing?
Our Hyperammonaemia Survey We spoke with our community and together we co-produced our Hyperammonaemia Survey, aiming to gain greater insight into the issues surrounding hyperammonaemia. We received responses from 34 individuals, representing 8 IMDs and spanning a wide variety of ages. Participants living with IMDs varied from 0-6 months to 50+ years! The largest age group was 19-30 years, making up 28% of respondents. Our survey told us that when presenting with hyperammonaemia, they are faced with multiple issues around information, awareness, and communication that impact their access to appropriate care, such as: Awareness of IMDs and hyperammonaemia amongst healthcare professionals. Knowledge among healthcare professionals about the proper processes to follow for ammonia testing and treatment of hyperammonaemia. Communication between healthcare professionals and patients/parents/carers. Information for patients/parents/carers on IMDs and hyperammonaemia. Lack of emotional/wellbeing support.
Thank you to everyone who shared their experiences in our survey to inform our work so we can continue to represent and advocate for the IMD community.
Page 10
Campaign: Hyperammonaemia
The “Think Ammonia!” Campaign We have been analysing the data from our survey, brought together a working group of senior NHS staff, hosted a hyperammonaemia roundtable, and sent freedom of information requests to NHS trusts to find out their processes for hyperammonaemia.
What are we doing next?
Hyperammonaemia
We are putting together a plan of action on how to improve outcomes for people presenting with hyperammonaemia. This will include educating healthcare professionals, improving the guidelines used in healthcare settings, increasing awareness amongst the public, and producing a varied range of resources.
What do we need from you? We’re interested in sharing your stories an experiences of hyperammonaemia so that we can show why it’s important to “Think Ammonia!”. Interested? Email: Email Jonathan Gibson (Policy and Public Affairs Officer) jonathan@metabolicsupportuk.org
Join our mailing list to make sure you don’t miss out on this, or any future, campaigns! Share your voice. Make a change.
Be sure to follow along on social media too.
Page 11
Team Spotlight
New to the team Have you met our new trustees and team member yet? We’re excited to introduce you! Hi, I’m Adrien! I have over 20 years of experience working for both small biotechnology and large pharmaceutical companies.
Adrien Lemoine
I’m currently co-founder and Chief Executive Officer for Bloomsbury Genetic Therapies and I have been working in the field of rare diseases and in particular IMDs for most of my career, including in previous experience at Orchard Therapeutics and GSK’s Rare Diseases Unit. I have a broad experience covering management, research & development, partnering & alliances, market research and finance that I hope will be useful to the growth and good governance of MSUK.
I have had the privilege to collaborate with great charities operating in the field of rare diseases and to witness first-hand the essential roles they are fulfilling. MSUK’s vision is bold and exciting, and being a Trustee gives me a chance to be involved in this rewarding journey as we deliver on our 10 years plan, and to get a chance to learn from the experience of the fantastic IMD community.
Hello I’m Mel. I live with an ultra rare metabolic bone condition as does my daughter and little granddaughter. My journey to diagnosis was long and extremely frustrating with misdiagnosis and many visits to specialists along the way. I have been employed until the work life balance became too difficult and later became self employed so that I could work to my strengths and pace my days. I have been a PA, a teacher, worked for the Health Board as a coordinator/ tutor helping people to learn to self manage their long term health conditions and run my own businesses.
Mel Williams
My personal journey and that of my family has given me an insight into how challenging it is to live with a rare condition but along the way I have needed the support of Metabolic Support UK. I set myself a goal upon diagnosis that I was going to raise the profile of rare disease to better help both my family and others. Over the years I have taken the opportunity to support the work of MSUK by getting involved when needed. My hope is that my passion and insight makes a useful part of a great team.
Page 12
Team Spotlight
New to the team Have you met our new trustees and team member yet? We’re excited to introduce you!
Paul Cox Hello, I'm Paul and I am delighted to have recently joined Metabolic Support UK as a Trustee. My background is a scientific education, followed by now 30 years (gulp!) experience within the Pharmaceutical industry, firstly working in clinical research and clinical trials and then within a variety of commercial functions. Most of that commercial experience and launching has been in rare, genetic and in a lot of cases, metabolic conditions and I have often been employee number 1 in a new group or indeed a new company, so am well used to rolling up my sleeves to do whatever is necessary! Currently, I am the General Manager for Apellis Pharmaceuticals, establishing the company across the UK, Ireland and the Nordics in preparation for launch of a therapy in a currently untreated ophthalmic condition. I hope to be able to support and guide Kirsty and her team with my own knowledge and business experience, plus direct hands on help as needed and appropriate. As a start, I have signed up to one of the London Marathon places for 2024 so will be pounding the streets to raise some funds for MSUK.
Rosie Lindup Hi, I’m Rosie and I’m a Trustee at Metabolic Support UK. I am a Policy and Public Affairs Manager at the BioIndustry Association, the trade association for the UK life sciences sector. In my role, I lead the BIA’s policy work on access to medicines, rare diseases, cell and gene therapies and antimicrobial resistance. My background is in politics and public affairs, and I am experienced in developing and delivering plans to influence policy. Through my role at the BIA, I have been able to work with many of the wonderful organisations working to improve the lives of people living with rare diseases, including rare metabolic disorders. It is a privilege to be a Trustee at MSUK, and to support the fantastic work of the team in supporting the IMD community and advocating for solutions to the challenges they face.
Join us in welcoming everyone to the team. We are excited for the experience and energy they bring to our work!
Page 13
Team Spotlight
New to the team Have you met our new trustees and team member yet? We’re excited to introduce you!
Laura Smith van Carroll, Head of Insight & Advocacy Hi! My name is Laura and I joined the team in June 2023 as the Head of Insight & Advocacy. Prior to joining Metabolic Support UK, I worked in Health Economics and Outcomes Research for eight years. I conducted and led on a wide range of research projects to help improve patients' access to medicine. Here at MSUK, I continue to lead and conduct research to gain insight into the lived experiences of people and families affected by IMDs to ensure their voices are heard and understood in, for example, clinical trials and health technology appraisals. It has been an interesting first half year, where I have already had the opportunity to meet many people in our IMD community as well as the wider rare disease community. I cannot wait to see where we can take MSUK over the next years! Please do feel free to reach out to me with any insight or advocacy needs and I will see what we can do for you. You can reach me at laura@metabolicsupportuk.org
Keen on working more closely with Metabolic Support UK? We need you! In 2024 we will be actively recruiting for paid and volunteer positions. Click here to express your interest now and we will be in touch once positions go live! Not sure yet? Follow our social media to see what we are up to and any new announcements.
Page 14
Get Involved
How can you help? Metabolic Support UK couldn't exist without you and we aim to do even more in the future to ensure anyone affected by an Inherited Metabolic Disorder is seen, heard, and supported. With all the holiday shopping and new year deals coming up, it is the perfect time to make sure you are using easyfundraising! Over 7,000 brands will donate to us when you use easyfundraising to shop with them – at no extra cost to yourself! All you need to do is sign up and remember to use easyfundraising whenever you shop online. It’s easy and completely FREE! These donations really add up, so please sign up to support us and make your online shopping count:
Sign Up Here
Looking for a challenge heading into the new year? There’s still time to apply to join Team MSUK for the 2024 London Marathon! Find motivation to get out and keep active over this winter whilst taking on something new and raising money to support the vital work we do. Whether you're new to fundraising and marathons or have lots of experience, we'd love to hear from you. We're here to support you along your journey, with the whole community cheering you on! You can find our application form on our website:
2024 London Marathon Application Form
Or maybe you fancy a skydive, bake sale, dance, cycle, car wash? We are here to support you with any and all fundraising endeavours! Click here to find out more about how you can donate, fundraise, or volunteer to help enable the vital work we do.
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Get Involved
Get in touch You are always welcome to reach out to the team at Metabolic Support UK, in a way that suits you. You can call our freephone helpline Monday-Friday, 10am-4pm, fill in the contact form on our website, or send us an email. 0800 652 3181
@weareMSUK
www.metabolicsupportuk.org
@MetabolicSupportUK
contact@metabolicsupportuk.org
@MetabolicSupportUK
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Metabolic Support UK is a charity registered in England and Wales (1089588) in Scotland (SCO44634) and a Company Limited by Guarantee (04267454).