Metabolic Matters (Issue Two)

FEBRUARY 2022

YOUR MONTHLY MSUK MAGAZINE

Metabolic Matters Blue m

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Read about our meeting with the Royal Society of Medicine. re ra

Contents FOCUS ON: RARE DISEASE DAY (PAGES 4 & 5) YOUR STORIES: LUCY DREXLER (6 & 7) KNOW YOUR IMD: MLD (PAGE 8) NEW DEVELOPMENTS: LIBMELDY APPROVAL (PAGE 9) MSUK INSIGHT (PAGES 10 & 11) WE WORK FOR YOU (PAGES 12 & 13) STRONGER TOGETHER: GENETIC ALLIANCE UK (PAGES 14 & 15) NUTRICIA RARE DISEASE DAY (PAGES 16 & 17) A DAY AT MSUK: MEGAN (PAGE 18) MEET JAK (PAGE 19) THE LONDON MARATHON (PAGE 20) GET INVOLVED (PAGE 21)

Focus on: Rare Disease Day Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.

Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse– but united in purpose.

Rare Disease Day is observed every year on 28 February (or 29 in leap years)—the rarest day of the year.

Rare Disease Day was set up and is coordinated

by EURORDIS and 65+ national alliance patient organisation partners. Rare Disease Day provides an energy and focal point that enables rare diseases advocacy work to progress on the local, national and international levels.

"When you hear hoof beats behind you, don't expect to see a zebra."

Medical students are given this quote as a way to let them know that they should look for a common diagnosis for the symptoms they are given instead of the possibility of it being a rare case.

Our rare journey Our organisation was formed in 1981 by Peter and Lesley Green after the birth of their daughter, Jennifer, who lived with cystinosis, a rare inherited metabolic disorder (IMD).

From it's inception, we've strived to support those in the rare community, expanding new-born screening, accelerating the development of orphan drugs, and acting instrumentally in establishing EURODIS, ensuring people living with IMDs have the best quality of life possible.

Metabolic Support UK are now the leading organisation for IMDs, supporting thousands of patients worldwide through providing individual support, building patient communities, and continually advocating for and empowering those living with IMDs.

Celebrate Rare Disease Day

T H G I l r r o f Up e ra r

Visit the Rare Disease Day website to see how you can get involved.

Your stories: Lucy Drexler I work full time as a technologist in the Textile industry, I am also a beekeeper, charity volunteer, gardener, and I read a lot, but none of this is relevant to you – you just know me as Kirsty’s mother.

I am mother to Kirsty, 19 – no, wait, I am Lucy.

Our daughter Kirsty has Pyruvate Dehydrogenase Deficiency and multiple other diagnosis, leading to severe learning and physical disabilities, so uses a wheelchair for mobility. She needs 24 hour care and has a learning age of around 3, but is a very friendly, sociable young adult of 19.

So, how was our pandemic?

During the two years, Kirsty turned 18, and all her respite facilities closed. Her home help stopped. She was sent home from school for months, then whenever there was another outbreak. She then left school. We applied for and she started special needs college. She transferred from Great Ormond Street to UCLH adult neurology services.

Kirsty Drexler, Lucy's daughter

My husband has continued to be the main carer and the modern world is designed for two adults working, yet disability in the family means one adult is unable to work.

It was hard, we faced challenges to completing lateral flow tests, to using technology and to using physio equipment at home, all whilst respite services closed completely, then when Kirsty turned 18 she was automatically exited out of that service anyway.

If you're not bolshie like us, families end up with nothing.

We had a meeting with Kirsty’s NHS funding team to help us understand how it worked. It transpired that the adult funding assessment document was nowhere near enough to fund the support that Kirsty had received pre-18, leaving us feeling that the system is designed to minimise support.

Kirsty Drexler, Lucy's daughter

Know your IMD: MLD What is it?

Metachromatic leukodystrophy (MLD) is a rare hereditary disease characterized by accumulation of fats called sulfatides. This causes the destruction of the protective fatty layer (myelin sheath) surrounding the nerves in both the central nervous system and the peripheral nervous system.

Symptoms Each MLD subtype has specific symptoms and rate of progression. Each subtype is based on age of onset.

Over half of the children affected by MLD show symptoms in the first 3 years of life.

This form is called late-infantile MLD. Often the first signs of disease are from demyelination of the peripheral nervous system and include difficulty walking.

Juvenile MLD (J-MLD) is less common and occurs in 20-30% of people with MLD. Onset is between 4 years old and sexual maturity, usually between 12 and 14 years of age. Often with J-MLD, the first signs include behavioral problems or new difficulty in school.

All forms of MLD are progressive. In late-infantile MLD, within months of the first symptoms, most children lose the ability to talk and walk. The progression in the juvenile and adult forms can occur over years to decades. Regardless of the subtype, last stage of the disease is often characterized by blindness, inability to move, unresponsiveness, and an inability to speak.

New Developments: Libmeldy approval The European Commission have officially announced full approval for the world’s first lentiviral vector-based gene therapy for the treatment of MLD.

How does it work?

The patient's hematopoietic stem cells (HSC) are selected, removed, genetically modified and then infused back into the patient. These HSC then migrate across the blood-brain barrier into the brain, engraft, and express the functional enzyme has the potential to persistently correct the underlying disease with a single treatment.

MSUK Insight The capacity to gain an accurate and deep understanding of our community.

What is insight?

My role is to gain an accurate and deep understanding of the Inherited Metabolic Disorder community. I capture insights in a variety of ways which include: Disorder specific surveys and insight projects, annual surveys, conversations with the community and individuals, internal data such as incoming enquiries and social media trends, patient insight stories, external webinars and meetings.

Why is insight important to MSUK?

Jess Doyle, Head of Insight

Insight is the instrument we use to keep the cogs turning. A key example is our individual support service insight– each month we receive x number of enquiries, I analyse the types and number of enquiries and identify specific trends and topics and use this to improve the services we offer to you and also evidence the need for wider changes.

However, insight isn’t just for this purpose. When we collate your views, experiences and challenges and present them in a way that key opinion leaders understand, we have a real opportunity to change systems, policies and fix the broken parts of your Inherited Metabolic Disorder journey. Insight also enables us to amplify your voice and make those who need to hear what you have to say, actively listen.

Thoughts into action Since December 2021, I have been busy pulling together all of our internal and external insight. Within the next few months, we will be launching our Metabolic Support UK ‘Thoughts into Action’ report.

The ‘Thoughts into Action’ report will set out a ‘state of play’ for people living with IMDs and showcase what we, and our partner organisations, are doing to address issues, increase opportunities and highlight areas where more work is needed. The report will also set the scene of what you can expect from MSUK over the next decade. There are many upcoming changes to policies, the way treatments are funded and approved, the way care is delivered and the support you receive.

MSUK is harnessing this opportunity to change the conversation for those living with IMDs. In our 2018 community consultation you asked us to become changemakers and bring to the light key issues and challenges you are facing. Whilst the challenges and issues have evolved our determination to respond to your asks has to and Thoughts into Action will demonstrate how we will evolve into the changemakers you have asked for.

But we can’t do this alone….

We still need you. We need you to share your stories, take part in our surveys and polls, share our social media messages, take part in interviews, and focus groups, become Ambassadors, contact us for support, attend our annual events and more.

If you would like to be more actively involved, you can also sign up to join our Co-production group.

If you have any questions about the content of this article, please contact Jess Doyle jess@metabolicsupportuk.org

We work for you It's been another busy month at Metabolic Support UK HQ but we wouldn’t have it any other way. This month our team have been busy discussing topical issues impacting our community, reviewing the findings from our annual survey and raising awareness about the work we do. Our support and advice services have also been busy and we’ve been responding to your queries regarding condition management and access to treatments. Here is a roundup of some of our February activities.

Raising awareness at the Royal Society of Medicine annual conference Our CEO Kirsty and Ambassador Laura Linford delivered a thought provoking talk on the challenges and impact of living with an Inherited Metabolic Disorder. The Royal Society of Medicine’s annual symposium is an event dedicated to member of the society (healthcare professionals and researchers) and provided a great opportunity for us to share our insights and knowledge with general health care professionals in attendance. Kirsty and Laura joined world leading experts to discuss the clinical features and management of rare diseases in children.

Our Head of Insight Jess and Ambassador Lucy Drexler (read Lucy’s story on pages 6 & 7), joined fellow rare disease colleagues during the latter part of the conference to share the findings of the ARDEnt report and discuss the impact of Covid-19 on the rare community. Lucy shared her experiences regarding loss of respite and inaccessible appointments and Jess delivered an impactful summary of the findings and recommendations for change.

Our Genetic Alliance takeover On the 10th February, our Communications Co-ordinator Jonathan, was given the opportunity to take over the Genetic Alliance UK Twitter. Jonathan, delivered a well thought out and planned communications campaign, raising awareness about IMDs and the work of Metabolic Support UK.

Our first in-person team meeting!

On 11th March the team gathered at our head offices in Wrexham, for a long overdue catch up and to welcome our new team members.

We were joined by the chair of the board Elin and each team member delivered a presentation on their role within MSUK and their visions for the charity during the next decade. Keep checking back here as we gradually begin to unveil our plans and launch our thoughts into action report.

Supporting You Our Patient Communities Manager Helen has been busy responding to your enquiries and requests for support, regarding what to expect as a disorder progresses, dietary management, advice, and support regarding managing specific disorders and peer support. Providing support is not the only thing Helen has been up to, Helen and the rest of the MSUK team have also been busy planning our new individual support services which we will be launching within the next few months.

Don’t forget if you require any advice, support, or information our team are here and ready to help. You can contact us via E-mail: contact@metabolicsupportuk.org Phone: 0845 241 2173 Social Media: (Jonathan to insert handles) Or via the website: https://www.metabolicsupportuk.org/contact-us/

Stronger together: Genetic Alliance UK Metabolic support is one of more than 200 support organisations and charities that we support.

Genetic Alliance UK is the largest alliance of organisations supporting people with genetic, rare, and undiagnosed conditions in the UK. Our members and the people they support are at the heart of everything we do.

We advocate for fast and accurate diagnosis, good quality care and access to the best treatments. We actively support progress in research and engage with decision makers and the public about the challenges faced by our community.

We run SWAN UK, The only dedicated support network in the UK for families affected by a syndrome without a name – a genetic condition so rare it often remains undiagnosed.

We also run Rare Disease UK, a campaign focused on making sure the new UK Rare Diseases Framework is as successful as possible, and to ensure that people and families living with rare conditions have access to a final diagnosis, coordinated care and specialist care and treatment.

Rare Disease Day Rare Disease UK also coordinates the Rare Disease Day activities in the UK. 3.5 million in the UK are affected by a rare condition – that’s 1 in 17 people!

Today we are joining the celebrations globally to raise awareness and generate change for 300 million people living with a rare condition, and their families and carers.

How can you get involved in Rare Disease Day? Visit our website to share your story and shine a light for Rare Disease Day. It’s easy to submit your story and read others here.

Light up your home for rare at 19:00 to show solidarity with the rare community.

Our partnership with ITN Productions Industry News On Rare Disease Day we’ll be launching our coverage with ITN Productions Industry News. We are co-producing Shining a Light on Rare Conditions, a newsstyle programme raising awareness of people affected by rare, genetic and undiagnosed conditions. You’ll be able to watch the coverage on our website and social media so make sure you’re following us!

Unheard voices This Rare Disease Day we’ve been keen to raise awareness of a range of people with rare conditions and are excited to share with you four videos.

Follow us on social media and get involved Make sure you’re following Rare Disease UK and Genetic Alliance UK on social media. We’ll be having Twitter and Instagram takeovers throughout the day and we’d love you to tag us in your posts to celebrate Rare Disease Day. Don’t forget to use the hashtags #RareDiseaseDay2022 and #RareDiseaseDay!

Rareny

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Rare Disease UK Twitter Rare Disease UK Instagram Rare Disease UK YouTube Genetic Alliance UK Twitter Genetic Alliance UK Instagram Genetic Alliance UK YouTube

Nutricia Happy Rare Disease Day from Nutricia!

For Rare Disease Day we have been sharing resources on our social media including educational videos and a new patient story from our #myphlexiblelife campaign.

Chef Derek and Ty have also been in the kitchen creating a Rare Disease Day inspired cake from our Creative Cooking Recipe Folder!

We would love to know how you are celebrating Rare Disease Day! If you try one of our low protein recipes to spread awareness like Chef Derek and Ty, make sure to tag us on @lowproconnect and use the hashtag #rarediseaseday Best regards, Camille Nutricia Metabolics

Hear the latest news and recipes first via Nutricia Metabolics social media!

Facebook: Low Protein Connect Instagram: @lowproconnect Twitter: @lowproconnect YouTube: LowProteinConnect

Celebrate RDD with this Low protein chocolate cake recipe Ingredients 500g Loprofin Chocolate Cake Mix 120ml sunflower oil 220ml sparkling water Suitable low protein chocolate buttercream icing

Category: Low Protein Diet exchange value 0*

Method Grease and line a 7" or 8" cake. Preheat the oven to 180°C/350°F/Gas Mark 4.

Place the Loprofin Chocolate Cake Mix into a deep bowl, add the oil and mix well until it resembles breadcrumbs.

Add the sparkling water and mix well.

Spoon the mixture into a greased cake tin and leave to stand for 15 minutes.

Bake in a preheated oven for 45–55 minutes.

Allow to cool in the tin for 5 minutes before transferring onto a wire rack.

Ice with suitable low protein chocolate buttercream icing.

Leftovers should be covered and stored in a cool, dry place for up to 3 days.

Important notice

This recipe is intended for patients who have been prescribed Loprofin by a healthcare professional.

The Loprofin range are Foods for Special Medical Purposes for the dietary management of inherited metabolic disorders and other conditions requiring a low protein diet, and must be used under medical supervision. * The protein content indicated in this recipe is provided as a guide only. Please check the protein content on individual ingredients and product labels. **Allergens may be present, please check individual ingredients and product labels. If concerned about allergens, please contact your healthcare professional.

A day at MSUK: Megan 9:30- 10:30am My day begins with our morning meeting. This brings us all up to date on what each other are getting up to that week and that day, what is being prioritised and if anything needs to be discussed from the day before. For me, this is a great time to understand what tasks might be put my way later that week, often in way of research and insight.

10:30-11:30am Following our morning catch-up, I make myself a coffee and go through my emails and make sure I’m up to date on our Slack group messages. It is likely my morning reading will include articles on the rare disease landscape that the team have highlighted, as well as looking for updates on pieces of policy I’ve been following; this has recently been the Health & Care Bill. I will then remind myself of how far I had gotten with tasks from the previous day, and what I need to focus on for the remainder of the week.

11:30am-2pm From then on, I prioritise work that I haven’t yet completed, tasks that need to be complete in an upcoming time frame and other pieces of work that require special attention and focus. For example, this can include forming appraisal discussion guides, having meetings with people from relevant patient communities, following these meetings up with notes of what was discussed and summarising long policy documents to provide the team with. It is at this time that I’ll have a quick lunch before the next part of my day.

2pm-2:30pm My day usually involves a quick meeting with Jess or Kirsty to catch up on how my tasks are going and be given supplementary tasks. Although we all regularly message during the day, this is also a great time for me to bring up any questions I have regarding my current tasks or my working week in general.

2:30pm-5pm I use the final part of my day to complete smaller tasks or continue a researching task. This can include making notes that will help form bigger documents or presentations within my prioritised tasks and scoping for current and relevant discussion pertaining to the entire or specific rare disease communities in the UK and further afield. I finish my day by reviewing my daily to-do list, add things I want to achieve tomorrow and tick other things.

Meet Jak: Our new Policy and Advocacy manager

Hi, I’m Jak and I’ve recently joined Metabolic Support UK as a Policy and Advocacy Lead. My background is in research, insight and data analysis where I have spent over eight years forming evidence to help businesses answer their key questions and formulate their strategies moving forwards. I am also a qualified secondary school teacher and my most recent role prior to joining Metabolic Support UK has been as a business studies teacher at a further education college.

I had just entered my second week of parenthood when I was plunged into the world of IMDs, after my son was diagnosed with PKU following newborn screening.

With the recent approval and delivery of the treatment sapropterin on the NHS for people with PKU, I have observed first-hand how dedicated advocacy can influence change and drive progress for patient communities.

I’m looking forward to advocating on behalf of the IMD community to ensure their voice is heard in key policy making processes and to campaign for the best outcomes for patient communities.

The London Marathon The London Marathon is our biggest community fundraiser, providing crucial contributions towards our key services to ensure anyone affected by an IMD is seen, heard and supported.

So how would you like to take part in The London Marathon for us this year? Fill out the application form at the link below and make life better for those affected by IMDs. Application form

Get involved 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.

To enable us to keep working for you why not: Donate Fundraise Volunteer