Metabolic Matters (Issue 10)

OCTOBER 2022 YOUR MONTHLY MSUK MAGAZINE

Metabolic Matters

Healthcare for rare

CONTENTS So...what is the UK Rare Disease framework? (Page 4) M4RD's reflection on priority area two of the uk rare disease framework (Pages 5-6) Meet M4RD (Page 7) RareAware Glasgow (Pages 8-9) Our family fun day (Page 10) Get involved (Page 11)

So...what is the UK Rare Disease Framework?

The UK Rare Diseases Framework lists the priorities and key themes that detail how the UK will address the challenges faced by those living with rare diseases.

The UK Rare Diseases Framework outlines 4 high-level priorities for rare diseases in the UK over the next 5 years and these are: Helping patients get a final diagnosis faster.

Increasing awareness of rare diseases among healthcare professionals Better coordination of care.

Improving access to specialist care, treatments and drugs.

Nation-specific action plans have now been developed for England, Wales and Northern Ireland with Scotland set to publish in December.

Full framework: https://www.gov.uk/government/publications/ukrare-diseases-framework Our England Rare Disease Action Plan explainers: https://youtu.be/mLRWoB8OANE

m4rd's reflection on priority area two of the uk rare disease framework Medics 4 Rare Diseases is particularly invested in actions addressing Priority 2 ‘increasing awareness amongst healthcare professionals’. M4RD is a registered charity that is striving to drive attitude change towards rare diseases amongst medical professionals. It does this by providing education and practical tools for medical professionals and medical students about rare disease in order to reduce the diagnostic odyssey and improve the patient experience.

The charity focuses its education on the relevance of rare disease to everyday clinical medicine, equipping doctors to manage their patients with rare conditions more effectively and sensitively. The M4RD team were really encouraged by the identification of healthcare professional awareness as a key Priority for action by the DoHSC. Over the last year it has been an exciting time working with the different nations, to different extents, on forming their Action Plans.

M4RD’s CEO, Dr Lucy McKay, is part of The UK Rare Diseases Forum which helps advise the UK Rare Disease Implementation Board. It has also been a steep learning curve, as we have learned the ways that different stakeholders work together in this area.

BELOW IS AN OUTLINE OF M4RD'S WORK IN THIS AREA WRITTEN BY EMMA HUSKINSON, COMMUNICATIONS LEAD FOR M4RD. Reflecting on what we know so far, about plans addressing Priority 2, Actions outlined are nation-specific; while there is a great wish to share and learn from each other, we don’t seem to have found the right environment in which to do this. M4RD is one potential facilitator of this but we are acutely aware that our understanding is founded in lived-experience of the medical profession and we can’t speak for all healthcare professionals.

Naturally, there are overlaps between needs of different professions but it is important that Actions are carefully designed and targeted in order to have the greatest impact.

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The collaborative work between M4RD and the Welsh Rare Disease Implementation Group is a great example of how we can combine to create specific, targeted and measurable actions. We are working with Dr Duncan Cole at The University of Cardiff to learn from their all-rare disease approach to medical education and to run a survey of medical students across the UK to, evaluate their current understanding and learning needs, in regards to rare disease. We are also working with Welsh RDIG and Health Education and Improvement Wales (HEIW) to produce two ‘Reframing Rare Disease’ events for GPs next year.

This work was put into motion when Dr Graham Shortland came to M4RD and openly asked us for a “wish list”. This led to the creation of M4RD’s suggested Action Plan for Priority 2. We have also been glad to engage with Scotland’s Rare Disease Policy Team, Northern Ireland’ NIRDP and England’s Genomics Education Programme. However we can’t emphasise enough the need for an all-nations approach to this Priority in particular.

In terms of ‘healthcare professional awareness’ it is key to remember that the healthcare workforce is mobile across the whole of the UK. A healthcare professional may have received their undergraduate education in one country, further training in another and be working in a third.

This Movement of the healthcare workforce between the different nations of the UK is common and therefore it is essential and would be more efficient to have a national strategy for Priority 2 which is then complimented by specific Actions for individual nations that are tailored to population needs and local NHS Services.

Going forward M4RD is committed to helping facilitate collaboration between stakeholders in all four nations and in different healthcare professions to start working on a national approach to Priority 2. The model for this may lie in one of the new Independent Advisory Groups (IAGs) that has spun off from The UK Rare Diseases Forum. Watch this space!

Find out more about m4rd's work

For further info visit: https://www.m4rd.org/

Meet: rareaware glasgow RAREAware Glasgow is a society which is dedicated to raising awareness about rare diseases, the impacts which they can have on both patients and carers, and what medical students can do to drive positive change.

Zainab Hi everyone! I’m Zainab Alani; a 19-year-old medical student battling the rare condition generalised Myasthenia Gravis (MG). After choosing not to discuss my diagnosis for almost 3 years due to the difficulty of explaining what MG is secondary to its rarity, I decided to use my platform as both a medical student and patient to drive positive change. Earlier this year, myself, the current Vice-President Fatima and Dr. Oliwa, founded a new rare disease society at the University of Glasgow called RAREAware Glasgow with the goal of bringing about such change. From hosting interactive patient zoom nights to educational events like conferences, our founding committee will be telling you why we can’t wait for what we’re going to achieve this year!

As aforementioned, I wasn’t always this open about my MG journey which has been littered with hurdles along the way.

With only immediate family knowing about my diagnosis, I silently battled and struggled against debilitating fatigue, profound muscle weakness and steroid side-effects including but not limited to acne, moon face and weight gain. Above all, I had to adapt to a whole new way of life and accept that I’d never be the same person again. I chose to co-found RAREAware as no one should feel suffocated by these colossal involuntary changes and everyone should be able to support those enduring such overwhelming uncertainty and difficulties.

Fatima Learning about a condition through a textbook is incomparable to learning about a condition through a sibling. Moreover, not learning about rare diseases at all through the education curriculum can cause impairments in clinical judgments and diagnoses.

The realisation struck me when my younger sister and RAREAware President, Zainab, was diagnosed with MG- within my 4-year anatomy degree and first year of medical school teaching, I had only heard about MG once. This stunned me.

Furthermore, my drive to co-found a society was fuelled by the responsibility I feel to future patients. As medical professionals, we have a duty of care. As it takes 4 years on average to be diagnosed with a rare disease, I wanted to proactively try and help minimise this prolonged waiting time. I wanted to be part of the movement that put a stop to this cycle of misdiagnosis being perpetuated. So, I joined forces with a team of fantastic medics to reduce this diagnostic peregrination.

Iman: I think it's so important for everyone to be educated on rare conditions and how they affect peoples’ lives because we will meet people who have these conditions, and it shouldn’t be their job to explain to us what it is and why it matters. This is why we aim to spread awareness about rare diseases across the university, especially medical students, who will form the future healthcare teams that help diagnose and treat those diseases.

My role as treasurer is to help collect and organise funds so we can go ahead with our many events and ideas for the year that will teach more people about the many conditions they may not have heard of.

Henry As publicity rep, my role involves managing the social media side of the society - creating content for our profiles and newsletter and engaging with anyone who reaches out to us through our socials.

Neha:

I feel this is a direct way to communicate with our audience in raising awareness for rare diseases (both specific diseases as well as related educational events) and utilises my creative skillset to reach more people, thereby enabling us to raise awareness for rare diseases which was the critical motivating factor for me to join the society – for rare diseases to no longer be ignored and overlooked.

As a medical student, I believe it is so important to raise awareness surrounding rare diseases. As the world of medicine is constantly changing and adapting to support patients, it makes sense that as medics we should be informed about these conditions and how we can help support our patients and their families in a better way. As secretary for RARE Aware, I have the opportunity to connect with others who are more well versed and knowledgeable in specific conditions than I am, and it is such a privilege to be able to talk to them and become more informed. This in turn allows us to form connections with individuals and speakers, who would be able to come along and speak at our events to educate other students.

Our family fun day The Metabolic Support UK Team are bringing the IMD community together once again with a fun filled day at Chester Zoo. It has been a long time since we last gathered in person and what better way to reconnect than at one of the UK's biggest attractions!

With 35,000 animals and 128 acres of zoological gardens, there will be plenty to see and do for all ages.

When you feel like taking a break you will find a free hot buffet lunch, refreshments, and the MSUK team waiting for you at the Oakfield, situated within the zoo grounds. Here you can meet our team and access 1:1 support, learn more about MSUK, and engage in our work through activities This event has now reached maximum capacity and we can't wait to see those of you who have booked!

saturday 5th november!

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