Metabolic Matters (Issue One)

JANUARY 2022

YOUR MONTHLY MSUK MAGAZINE

Metabolic Matters

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FOCUS ON: covid-19 (pages 3-6) Patient stories: Michael's JOURNEY TO DIAGNOSIS (page 7) nEW DEVELOPMENTS: iNTEGRATED CARE SYSTEMS (pages 8-9) kNOW YOUR imd: mcadd (page 10) London marathon (page 11) we work for you (pages 12-13) stronger together: beacon (page 14) meet the team (pages 15-17) get involved (page 17)

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fOCUS ON: COVID-19

Every month we focus on a topic relevant to the IMD community. In our first edition we explore COVID-19, how it affected us and what we did. We also answer some common FAQs and give guidance on vaccines and under 18s.

We received a 95% increase in enquiries compared to the previous year.

52% of our patients didn't receive a shielding letter.

26% of our patients had prescription or medication delays.

The Key Stats

47% of our patients had appointments rescheduled or cancelled.

20% of our patients had scheduled investigations delayed or cancelled.

Patients faced delays to research and clinical trials.

Parent/carers withdrew vulnerable children from mainstream school out of fear and anxiety.

76% of our patients attended telemedicine appointments and but only 16% found these beneficial.

Some parent/carers lost external support from paid for carers.

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WHAT MSUK DID Worked with NHS colleagues to deliver webinars, bringing patients factual and up to date information Initiated a weekly virtual coffee and chat session to minimise isolation Implemented a COVID-19 resource hub on our website to reduce confusion, ensuring it was kept up to date with all the latest guidelines and developments Worked with statutory bodies and regulators to review the impact on clinical trials and advocated for appraisal deadlines to be pushed back.

Partnered with other organisations to collate a report on the impact of the pandemic on the rare disease community: ARDENT Report Created a platform for patients and families to share their experiences of the impact of the Pandemic, improving peer support and reducing isolation.

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VACCINES& IMDS: FAQS Is the COVID-19 vaccination safe for people with Inherited Metabolic Disorders?

Yes, Vaccination is considered safe for all inherited metabolic disorders.

Can I have the vaccine if I need to follow a prescribed low protein diet?

Yes, the amount of protein in the vaccines is negligible and having the vaccine will neither affect how well your condition is controlled, nor will you need to reduce your protein intake (exchanges).

If I am offered vaccination would I need to have it done locally or with my specialist centre?

The NHS will aim to give you the vaccination within your local area. If they are not able to do so then you will be invited to a designated hospital which has been identified as a vaccination centre. You do not have to go to your specialist centre to be vaccinated.

What side effects might vaccination have?

Most side effects are mild and should not last longer than a few days to a week such as; A sore arm where the needle went in Feeling tired Headache Feeling achy

VACCINES AND UNDER 18S

FIRST DOSE

BOOSTERS On 22 December 2021, JCVI advised that booster doses of 30mcg of Pfizer-BioNTech should be offered no sooner than 3 months after completing the primary doses to: 16 & 17 year olds 12-15 year olds in a clinical risk group 12-15 year olds who are household contacts of someone who is immunosuppressed 12-15 year olds who are severely immunosuppressed and have had a third primary dose

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MICHAEL'S JOURNEY TO DIAGNOSIS

Every month we explore a patient story to inform and inspire our audience. Read Michael's journey to diagnosis, did you experience similar problems? Why not tell us your story by emailing helen@metabolicsupportuk.org

“In 2010, I started feeling tingling and pain in my right arm and calf, and my balance was becoming quite poor. I kept scuffing my feet when I walked.”

Michael Conway lives with Adrenoleukodystrophy (ALD) - a neurological condition that affects 1 in 20,000 men in the UK, and like with many other rare disease patients, he spent years seeing specialists, being misdiagnosed, and receiving no answers.

“I started seeing a consultant neurologist and had several MRI scans of my head and neck. I also had lumbar punctures, nerve conduction tests, blood tests and more. My doctor told me on Christmas Eve 2015 that I had multiple sclerosis. I can understand why, as a lot of the symptoms look similar, but neither of us were completely convinced by that diagnosis, so he continued performing tests until May 2016. That’s when he finally diagnosed me with adrenoleukodystrophy.

Adrenoleukodystrophy (ALD) is a genetic condition that damages the membrane (myelin sheath) that covers nerve cells in the brain and spinal cord. Myelin acts as insulation around the nerve fibers. When this insolating layer is damaged, nerve signals from the brain cannot communicate across the body properly, causing impaired bodily functions or paralysis.

Earlier diagnosis often leads to better outcomes for patients, which is why Michael believes there should be a push for more children to be screened at birth for rare conditions as he doesn’t want anyone to endure the journey to diagnosis that he did.

Visit our patient insight series for more patient stories.

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INTEGRATED CARE SYSTEMS(ICS)

Every month we dive into new developments that are relevant to the IMD community. Read Megan's breakdown of Integrated Care Systems.

The NHS Long Plan, published in 2019, committed to begin establishing Integrated Care Systems across England by April 2021.

WHAT ARE INTEGRATED CARE SYSTEMS?

This plan defined ICSs as a new model to create partnerships between the organisations providing health and care needs across a local area in order to ultimately coordinate services to best improve the population’s health according to their needs.

After achieving this, the Government set out a White Paper (policy document) to develop and improve ICSs by establishing them in law; this has since developed into significant amendments of the Health and Care Bill.

By removing legal barriers, the Bill would ensure that ICSs, led by Integrated Care Boards, would take on legal responsibility for NHS resources and the local commissioning of services.

Services would be arranged as closely as possible to those who use them, and rno longer involve repeated first contact conversations, lengthy referral processes and even delays in treatment.

Some specialised services can then be delegated to be more responsive to local needs and local collaborations.

Collaboration of the NHS, local authorities, and third sector bodies such as Foundation Trusts should reduce unwarranted variation and inequality of access across the country.

POSITIVES FOR THE RARE COMMUNITY

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NEGATIVES FOR THE RARE COMMUNITY

Current systems of integrated care have been criticised for not effectively engaging and involving local authorities or local medical committees in their work.

Establishing services on place-based needs would require an alreadysignificant and relatively large rare disease community.

An overlapping structure could see a rising resistance of changes as a result of the differing interests of organisations.

Regions amongst ICSs would be much larger than the areas that have existed before, with a range of population size and system complexity, creating a possible risk that money will not be allocated as precisely to areas with higher needs.

Investment limits could discourage Foundation Trusts and their staff from surpassing expectations that currently would be rewarded in the chance to upgrade their facilities.

All 42 Integrated Care Systems were intended to be fully operational by April 2022.

This has since been delayed by 3 months as a result of the current Health and Care Bill debates.

The NHS Planning Guidance for 2022/2023 reveals that by July 2022, all statutory arrangements are to take effect and Integrated Care Boards to be legally and operationally established.

WHAT TO LOOK OUT FOR

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KNOW YOUR IMD: MCADD

Ever struggled to describe your IMD? We've launched a series focusing on a different IMD every month. Read our first installment covering MCADD.

WHAT IS MCADD?

MCADD is a rare genetic condition where a person has problems breaking down fat to use as an energy source. This means that someone with MCADD can become very ill if their body's energy demands exceed their energy intake, such as during infections or vomiting illnesses when they're unable to eat.

Problems occur because fat is only partially broken down, which leads to a lack of energy and a build-up of harmful substances in the body. MCADD is a lifelong condition that's present from birth.

It's estimated to affect up to 1 in every 10,000 babies born in the UK and is usually picked up using the newborn blood spot test.

SYMPTOMS IS MCADD SERIOUS?

MCADD is a potentially serious condition that can be life-threatening if not recognised quickly and treated appropriately. However, most cases are picked up soon after birth and can be managed quite easily. With proper care, there's no reason why someone with MCADD cannot live a normal, healthy and active life.

Babies with MCADD are at risk of developing the following symptoms which require immediate attention: Poor feeding Drowsiness Sleepiness Vomiting Low energy Seizures (fits) SEEK SUPPORT FOR MCADD

Join our MCADD Community!

Hosted by our wonderful ambassador Mandy, this is a group where you can meet others living with MCADD and share knowledge and experiences, plus stay up to date with all things MCADD!: MCADD Families UK Need advice?

Our team is on hand to provide a listening ear and to offer a range of practical advice on topics such as education, work and finances, holidays and travel, navigating the healthcare system, plus much more! Get in touch by phone 0845 241 2173 or by email contact@metabolicsupportuk.org

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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

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WE WORK FOR YOU The MSUK team have been incredibly busy throughout January. Taking part in consultations, workshops, training, preparing for the year ahead and most importantly providing essential support and advice to those who need it most. For a brief snapshot of what we have been up to, please check out our articles below.

REPRESENTING THE PRIMARY HYPEROXALURIA TYPE ONE COMMUNITY The National Institute of Care and Excellence (NICE) are appraising a new and innovative treatment for people living with PH1 called Lumasiran. Lumasiran has been available to some PH1 in the UK on a trial basis and is now going through the formal appraisal process. We have been working with the PH1 community to build a clear ‘day/week/month/year/years in the life of picture’ of what it is like to live with PH1.

We have represented the voice of the PH1 community in recent workshops and in January we wrote our ‘patient submission’ which is a document NICE requires to assess the treatment. We continue to work with the PH1 community and are currently recruiting a person living with PH1 to join us at the upcoming consultation workshop later in the year as a ‘patient expert’. If you are interested in this opportunity, please contact Jess Doyle at jess@metabolicsupportuk.org.

TALKING ABOUT COVID It seems and feels as though we have all been talking about Covid for a very long time.

However, it’s important that key decision makers and opinion leaders are aware of the impact Covid has had on our community. This month we attended the British Paediatric Neurology Association (BPNA) Conference and educated many health care professionals about the impact of Covid on our community.

We were also contacted by the National Institute of Care and Excellence and asked to take part in a consultation regarding treatments provided to patients who have been hospitalised by Covid. We have been working with the wider IMD community to capture key data and stories, regarding your experiences of Covid and long covid. If you would like to take part in our survey, please click the following link: COVID-19 Survey

SUPPORTING YOU This month we have received lots of enquiries regarding access to treatments such as new medicines and clinical trials, how to access metabolic testing and a formal diagnosis, the safety and efficacy of the Covid boosters and where to find specific information about your condition. Thank you to everyone who has contacted us for support, our team are always here and available to help.

Our immediate priority is to provide you with the advice and information you need, as fast as possible. However, we also use our enquiries to determine what resources we should build for the future. Based on our January enquiries, we will be working with partners to develop resources on how to access metabolic tests and updating our Covid information regarding the safety and efficacy of boosters. If there is anything you would like us to tackle, contact the team at contact@metabolicsupportuk.org

BUILDING AND DEVELOPING RESOURCES Throughout December and January, we have been working with our pharmaceutical company partners to build and develop resources for the Hypophosphatasia and X-Linked Hypophosphatemia communities. The MSUK team have been working with the companies and XLH UK and Soft Bones UK to capture patient experiences, attend workshops and contribute to the build and development of apps and hospitalbased resources.

We have also been busy building and developing our resources and will soon be launching our new look website. Our website has had an update and contains new features such as a resource hub, Inherited Metabolic Disorder hub and much more.

Keep an eye out for our launch communications within the next few months.

BUILDING OUR CO-PRODUCTION GROUP In November 2021 we hosted the Rare Thinking Festival, a first of its kind festival, focusing on new themes and topics. In August 2021 we ran our largest ever annual survey and an incredible 100 of you took part. We have been busy analysing the data and findings from both of these activities and are currently working on our ‘thoughts into action’ plan, which will detail key findings/issues and how MSUK is going to address and solve these throughout 2022 and beyond.

However, MSUK is a patient organisation and that means that we are a patient organisation which means that people living with inherited metabolic disorders and their families are at the centre of everything we do. Therefore, we have opened applications to our pilot co-production group. We will be working with the co-production group to help shape the future of our co-production activities. If you would like to learn more or are interested in joining the co-production group, please contact Jess Doyle at jess@metabolicsupportuk.org or apply directly: Application form (Deadline 14th February 2022)

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STRONGER TOGETHER: BEACON

Each month we feature our friends in the charity world.

This month we feature Beacon (previously Findacure), an incredible organisation we've worked with for so many years.

New year, new you right?

Well at the very least it's new for Findacure. They're pleased to finally announce their new name! From the 1st of February 2022, Findacure will become Beacon!

They have achieved so much since their foundation in 2012, but supporting the formation, growth, and development of patient groups has been at the core of everything they do. As they prepare for more exciting projects this year, they are excited to have a new identity that truly reflects their work with the rare disease community. They hope you like it!

If you want to learn more, maybe now is the time to sign up for their first big event as Beacon…the International Rare Disease Showcase!

Rare Showcase 22

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Caring and compassionate, our team encompasses a wide range of skills and experience and we're all working to help you. Read more about our brilliant team here.

MEET THE TEAM

Hi, I’m Kirsty! An experienced charity leader and changemaker who recently joined Metabolic Support UK from my former role as CEO of Transport for All, a charity that campaigns for the rights of disabled and older people in the UK to access public transport.

My background is working with both the public and private sectors to achieve positive, sustained change and to promote the links between better services, well-being and community integration and I’ve also worked for Sense charity, Diabetes UK and Help for Heroes.

I’m a passionate advocate of equitable access for disabled people and those living with long-term conditions and across the arts, cultural, educational, health transport sectors. Prior to moving full-time to charity leadership, I worked as a world expert on disability and culture and worked in Argentina, Singapore and across North America, sharing my Relaxed Performance and Arts Access model.

KIRSTY HOYLE, CEO

Hi, I’m Helen and I’m the longest serving member of the team. It’s my role to offer practical and emotional support to families and those living with Inherited Metabolic Disorders. It’s wonderful to stay in touch too and hear how people are getting along! Within my role, I oversee our Patient Communities programme and bring people together for peer support.

It is a real privilege to be in this position and I have a passionate interest in listening to and understanding each individual journey so we can gain an important picture of how IMDs impact day-to-day lives and identify where change or further support and advocacy work may be required.

HELEN MORRIS, COMMUNITIES MANAGER

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Hi I am Jess and I am the Head of Insight here at Metabolic Support UK. I joined MSUK in April 2018 initially as the Core Services Manager and now work as Head of Insight. I lead on our data monitoring, impact measurement and innovation. Working closely with other members of the team to elevate the services we provide and extend our reach within the IMD landscape.

You may recognise me from communications regarding our specialised projects such as our Metabolic Monsters programme, our annual surveys, as well disorder specific projects and activities. My background is in project management, having previously managed a Homeless Health Project in London and Chester for 4 years. I have always worked for non-profit people centred organisations and enjoy the challenges and benefits that come from working in this space. Having worked in the rare disease space for 3+ years I thoroughly enjoy my role, welcoming new patients to our community and working with the rest of the team to raise awareness, campaign for change and address key issues raised by our community.

JESS DOYLE, HEAD OF INSIGHT

Hi, I’m Megan and I’m currently taking my university placement year with Metabolic Support UK. I sought out this placement hoping to extend my passion for human rights in a practical environment that provides indispensable services to the community. I have always been aware of the rare disease community having two out of three siblings with a rare form of leukodystrophy.

Having observed and experienced the benefits of charitable organisations from a sibling perspective, starting my career path with a placement here is very inspiring. My role in the team so far has included preparing for our Rare Thinking conference, researching for, and helping form our 40th Anniversary Report, and generally supporting the team with current and upcoming tasks. I’m looking forward to being involved in the development of MSUK this year.

MEGAN FRYER-KELSEY, POLITICS WITH HUMAN RIGHTS PLACEMENT STUDENT

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Hi, I'm Jonathan and I work as the communications coordinator for Metabolic Support UK. My background is in genetics and global health and I've also worked for the NHS within a busy biomedical science laboratory for over four years undertaking the analysis of samples to ensure you receive the right treatment and diagnosis.

As a creative and compassionate individual, this really is my dream job so I look forward to working closely with the team and our community to tell the stories of IMD to the world.

JONATHAN GIBSON, COMMUNICATIONS COORDINATOR

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