Metabolic Matters (Issue 11)

APRIL 2023

Metabolic Matters YOUR QUARTERLY MSUK MAGAZINE

Experiences Matter

CONTENTS The London Marathon (Page 4-5) Meet #TeamMSUK (Page 6-7) A Momentous Milestone for People Living With Hypophosphatasia (Pages 8-9) Newborn Screening in the UK & The Newborn Screening Collaborative (Page 10-11) England Rare Disease Action Plan, 2023 Iteration (Pages 12-13) Meet Our New Team Members (Page 14) How to Support Us, to Support Others (Page 15) Get in touch & Wordsearch (Page 16)

Experiences matter Nowhere is this more true than perhaps in the world of rare disease and inherited metabolic disorders.

We always aim to empower people living with IMDs and share their voices, so real lived experiences can help create meaningful and desired change for individuals and IMD communities as a whole.

CEO View As the seasons turn and we hope for some warmer spring weather here in the UK, at MSUK we are experiencing our own changes and new growth. Centring our community in a meaningful and accountable way by building our Metabolic Youth Action group.

We do this because experiences matter and they shape and lead what we do. It is experiences, lived and shared, that inspire our work.

The London Marathon

The London Marathon Charity and the London Marathon

The London Marathon is an annual marathon held in London, United Kingdom. Founded by athletes Chris Brasher and John Disley in 1981.

There is a significant charity running aspect to the marathon, with participants helping to raise over £1 billion for different charities since its founding. This makes it the largest annual fundraising event on the planet!

MSUK and the London Marathon The London Marathon is our biggest community fundraiser of the year. This year Team MSUK is small but mighty! With the big event coming up on the 23rd of April there’s still time to show your support by donating and sharing their pages to help them each meet their £1,500 fundraising goal.

People choose to take part in the marathon for a whole host of reasons, and the same can be said for deciding to run for a charity. We're grateful for our 4 runners, their experiences that have led them to support us, all their hard work, and everyone showing them support.

Your support means the world to people living with Inherited Metabolic Disorders and allows us to continue to work towards a better life for anyone affected.

The London Marathon

Support #TeamMSUK You can follow the links below to donate to our London Marathon runners

Leigh-Anne D'avanzo

https://tinyurl.com/leigh-anneLM

Natasha Muir

https://tinyurl.com/natasha-LM

John Greaves

https://tinyurl.com/john-LM

Christian Hargreaves

https://tinyurl.com/christian-LM

Use #TeamMSUK across social media to support our runners.

If you’re unable to donate, why not share their pages? Every interaction helps and you never know who might have a pound or more spare to share.

So, who’s running the London Marathon in support of MSUK?

Team MSUK

Meet #TeamMSUK Leigh-Anne D'avanzo Leigh-Anne challenged themselves to run the London Marathon and raise money for MSUK on behalf of their nephew, Sebastian.

Sebastian was born with the rare metabolic condition Mitochondrial Trifunctional Protein Deficiency (TFP) - a condition so rare he’s the only person they know of in the UK with this diagnosis.

Click here to support Leigh-Anne.

John Greaves

"Having successfully completed the London Marathon, once virtually in lockdown and then in person, I’m really excited to have been given the privilege of taking part in this year’s event to raise funds and awareness for Metabolic Support UK for a 3rd year.

MSUK not only do amazing things to support those with inherited metabolic conditions but have been brilliant with their support throughout the marathon process.

My aim along with raising funds and awareness for this amazing charity is to complete the marathon in my fastest time yet, running with a good friend Alex Glyn."

Donate to John now by clicking here.

Team MSUK

Christian Hargreaves "Two very good friends of mine are the reason I am taking part in this year's event.

Marcus Stewart who was diagnosed with MND last year and who is spearheading raising awareness for MND. Adie Harvie, who tragically lost his daughter Emilia to Alexander disease in 2019, and who has been pivotal in raising awareness and funding for Metabolic Support UK. Both are an inspiration to those across the football community, both have shown incredible strength and humility and I am honoured to try to help in a small way."

Click here to donate to Christian.

Natasha Muir

Natasha joined #TeamMSUK with a real passion for fundraising and quickly smashed their fundraising target through all kinds of creative endeavours.

After breaking their foot a year and a half ago, running has helped her find her feet again.

Like many, Natasha didn't know much about MSUK or IMDs. But with some research into who we are she wanted to spread awareness of our work and rare IMDs whilst challenging herself to run the London Marathon.

Support Natasha to go above and beyond her target.

We are immensely proud of our runners and all our fundraisers.

Submission Updates

A momentous milestone for people living with Hypophosphatasia We were delighted to share in February that following a second committee meeting, NICE released final draft guidance to recommend the use of Asfotase alfa (Strensiq) for the treatment of all patients with perinatal and infantile forms of paediatric-onset hypophosphatasia (HPP) and additional recommendations for those with juvenile forms who meet the entry requirements set by the Managed Access Agreement (MAA).

So, what is Strensiq?

Strensiq is a drug that is life-saving in the youngest and life-changing in older children, young people, and adults with paediatric-forms of HPP. We share in the emotion, the relief, and the future hope that this guidance brings all of those living with HPP their families, and all those involved in their care.

Our Individual Support Manager, Helen Morris, has steered this work from within MSUK with great attention, care, and emotion. We have been privileged to represent the HPP community throughout this process and to work alongside those affected by HPP, their parents and carers, Soft Bones in the UK and US, and metabolic bone consultants and other specialities.

For the HPP community this process has been long and there have been many uncertainties along the way. We have worked with NICE and NHS England to unpick each stage and what it means for those receiving Strensiq and we are absolutely delighted that this new guidance relieves a great deal of anxiety and concern for many.

A key message here is that in the case of rare disorders, no matter how little you feel you can share, your voice really does matter!

We are celebrating this huge success as a result of the time, effort and dedication of those living with HPP and their families and carers. Throughout this process they have completed questionnaires not just as part of the MAA but from MSUK too. These, and the interviews, calls, and emails sharing vital insights and experiences of life with HPP have been what has got this over the line and helped us to ensure decision makers understand the true impact of HPP and the differences Strensiq has made.

Submission Updates

"Patient Expert" Melanie Williams Throughout the latest stages of the consultation we were pleased to be joined by our nominated ‘patient expert’ Melanie Williams, who as a person living with HPP, as well as having a daughter and a granddaughter with HPP, has vast experience.

Mel’s knowledge, eloquence, and strong passion for advocacy and awareness-raising has had a massive impact on this process and we’d like to thank Mel for her unwavering energy and drive which contributed to getting this treatment over the line.

Mel shared their thoughts on the experience and outcome: "As your patient representative on the NICE panel it was a great relief to firstly hear the news that perinatal and infantile onset patients would be able to receive Strensiq in the UK. But what a blow it was to hear that NICE was not minded to recommend for Juvenile onset. Then came the call to action from Metabolic Support UK for us to present our evidence to fight for Juvenile onset patients.

Thank you so much for completing the questionnaires and writing your stories.

This gave us the ammunition we needed to fight our corner. The process wasn’t simple by any means and many weeks of work writing papers and learning went on behind the scenes to collect the varied evidence needed by NICE to be able to approve the medication.

To hear we have approval for Strensiq for Juvenile onset HPP is monumental. As I live with HPP, have a daughter and granddaughter with the condition I know the toll this disease takes on not only the sufferer but on those caring for us too.

I breathe a huge sigh of relief at this wonderful news and look forward to brighter futures.”

MSUK would like to say thank you again to the HPP Community, Melanie Williams, and our own Helen Morris; for all the effort, care, and resilience they afforded this work.

Partner Projects

Newborn Screening in the UK What is NBS? Newborn bloodspot screening (NBS) involves collecting a small amount of blood on day 5 of life from a heel prick which is then applied to a blood spot card. This sample is then sent to a biomedical science laboratory for testing and in exceptional circumstances, such as when the infant requires a blood transfusion, sampling can be undertaken between days 5 and 8. All babies in the UK under one years of age eligible for screening for all 9 conditions included on the UK newborn screening panel.

One of, if not the, most efficient and effective of all screening programmes, NBS is utilised in the pre-symptomatic detection of infants with congenital conditions and is performed in many countries in the world, all US states and almost all European countries. In 2021 alone, 38M neonates were screened globally, leading to the identification of 38,000 positive results for rare disease or 1 baby every 15 minutes, enabling for early treatment of those affected, subsequently leading to the prevention and amelioration of long-term consequences.

Where does the UK rank?

The UK however, currently ranks 18th across Europe in the number of tests included on the country’s NBS panel, with countries such as Italy screening for 48 conditions. This subsequently means the UK is falling behind its neighbours which is perhaps surprising, as screening newborn babies for inherited metabolic disease began in the UK in the late 1950s with the 'nappy test' for phenylketonuria.

Considering this, and the fact that the UK is home to an estimated 3.5M people living with rare disease, it is clear that countless rare disease diagnoses are being missed and with average diagnosis for a rare condition not picked up in NBS standing at 5-9 years, this can have dire consequences.

More must be done to ensure rare diseases are picked up earlier and that’s where the Newborn Screening Collaborative comes in. This group of charities and support organisations are dedicated to improving the UK newborn screen and aim to do so through meeting three key priorities this year.

Partner Projects

The Newborn Screening Collaborative Priority 1. Review of UK NBS policy and processes

Review current policies and processes including those being developed in response to the RD framework, Genomics plan etc. to identify areas that are not working, where the gaps are, whether proposal meet these gaps, what has been done internationally and would these work in the UK, make recommendations for improving or defining level of evidence required.

Note: this would include the issue of the ‘treatment’ within the NBS ‘criteria'

Priority 2. Evidence and progress review

Collate and review existing and pipeline sources of evidence, held, or planned by individual collaborative members relevant to NBS. This could include parent / carer responses & views on NBS, clinical opinion, international evidence / consensus reports / survey outcomes / registry data. What do we have, where are the gaps, what as a group do we need to do to ensure the patient / parent view of NBS is captured if not already there? (i.e., collaborative survey)

Priority 3. Political engagement

What do different group members have in the pipeline, how can we better align, join forces. Who do we need to target, which APPG group do we need to target and how should we deliver our message (include scope of key dates from each partner organisation i.e.: rare disease day, other patient group awareness days, conferences etc.)

Even though we have a small team, we have a big impact and are continually committed to supporting people affected by all 500+ Inherited Metabolic Disorders and their communities.

Moving forward, Metabolic Support UK will do everything to support the achievement of these priorities and has taken a leading role in communicating the benefits of NBS through producing awareness campaign materials on behalf of the newborn screening collaborative, but this is just a start.

We will influence decision makers; we will achieve early diagnosis and we will be there for you. Your rare condition. Our common fight.

Policy

England Rare Disease Action Plan, 2023 Iteration The UK government and devolved administrations published the UK Rare Diseases Framework in January 2021, setting out a shared vision for addressing health inequalities and improving the lives of people living with rare diseases across the UK.

The framework outlined 4 key national priorities: ⦁ Helping patients get a final diagnosis faster. ⦁ Increasing awareness among healthcare professionals. ⦁ Better co-ordination of care. ⦁ Improving access to specialist care, treatment and drugs.

To turn this vision into action, each of the 4 UK nations has committed to developing nation-specific action plans detailing how these priorities will be addressed.

On the 28th of February 2023 (Rare Disease Day), the Department of Health and Social Care (DHSC) released the 2023 iteration of the England Rare Disease Action Plan (ERDAP) which both reports against progress towards meeting the 16 actions laid out in the ERDAP for 2022, whilst introducing 13 new actions in response to stakeholder consultation throughout 2022.

Progress towards meeting the actions of 2022: The DHSC have made progress towards meeting the actions set out in the 2022 ERDAP and these achievements are shown in the infographic below:

Policy Despite this progress, there is still work to be done across the actions laid out in 2022, therefore, DHSC have marked some milestones as not yet completed and have extended their deadlines, with other actions also extended after review by the DHSC once completed, with the department deciding more work can be done in these areas.

The new actions: The 13 new actions introduced as part of the 2023 ERDAP aim to ensure that people living with a rare disease have access to treatment, care and support and aim to also ensure that health inequalities are reduced for people living with rare diseases, ensuring access to clinical research and access to services.

What are MSUK doing to ensure people living with IMDs are included in the rare disease action plan conversation?

We’re actively engaging with the DHSC to ensure your voice is heard and are part of the ERDAP Patient Advisory Group (PAG) which directly influences how this action plan looks.

Not only do your experiences matter, they're vital in conversations like this.

As part of this, we’ve took a leading role in pushing for a focus on not only the medical aspects of rare disease but also the social elements such as ensuring you’ve got access to mental health support, improving access to benefits and adequate resources to maintain the highly specialised diet required for the symptom control of many inherited Metabolic Disorders (IMDs).

With this in mind, we’ve taken data from our “Cost of Living with an IMD” report and shared this directly to Dr Kath Bainbridge (Head of Genomics Science and Emerging Technologies at the DHSC), who’s stated they’d like to hear more as the DHSC looks to commission research into other aspects of rare disease through the National Institute of Health Research.

Further to this, we’re also opening conversations with the Scottish Government and will feed into other devolved nation’s action plans to ensure your voice is heard! Your rare condition. Our common fight.

Get Involved

Meet Our New Team Members Toni Mees

Hello, my name's Toni and I joined MSUK as the Community Engagement Officer towards the end of 2022.

My background and my passion lies in online communities and peer support. Having previously led on Engagement and Moderation for an online mental health service, I recognise the sheer power of accessible support and the importance of making connections with others in safe spaces.

I’m excited to support our communities, share your voices and stories, and help create meaningful change.

If you've seen our social media, you've already heard from me! You're always welcome to reach out to me at toni@metabolicsupportuk.org or bop me a message on socials.

Pavel Krepelka Hi, I’m Pavel and I work with the MSUK as a part of my university placement year.

As an International Relations student, I have experience working in the Governmental sector from my internships at embassies but also with the private sector in the healthcare sector. My background in different sectors enables me to bring a different perspective to the team and to understand the importance of clear communication, quick adaptation, effective cooperation and most importantly, support.

I find the opportunity to work with the MSUK an excellent chance to translate my work efforts in a more than meaningful way while supporting our community.

You can reach me at pavel@metabolicsupportuk.org

Get Involved

How to support us to support others 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.

And it’s never been easier to support the work that we do!

We’re now registered with easyfundraising, which means you can help us for FREE. 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 mount up, so please sign up to support us at https://www.easyfundraising.org.uk/causes/msuk/ Sign Up Here

As always you can donate, fundraise, or volunteer to help enable the work we do. Click here for more info on how to 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).