Metabolic Matters (Issue 3)

MARCH 2022

YOUR MONTHLY MSUK MAGAZINE

Metabolic Matters

RARE ICONFLI N CT

CONTENTS

FOCUS ON: RARE IN CONFLICT THE WAR ON DRUGS: HEALTHCARE AND MEDICINE IN CONFLICT ZONES STRONGER TOGETHER: NSPKU & UKRAINE KNOW YOUR IMD: PKU NEW DEVELOPMENTS: ENGLAND'S RARE DISEASE ACTION PLAN WE WORK FOR YOU A DAY AT MSUK: KIRSTY LONDON MARATHON: MEET #TEAMMSUK THE LONDON MARATHON GET INVOLVED

Focus on: Rare in conflict

At Metabolic Support UK we watched the events taking place across the globe this week for Rare Disease Day with a sense of pride but also frustration. For us, it felt uncomfortable to celebrate raising awareness for rare diseases when the background of the conflict in Ukraine was a harsh reminder that we are not doing enough.

We are not doing enough for our metabolic community across the globe and want to change that. Rare Disease Day 2022 threw into sharp relief the responsibility we have to connect our awareness raising work to tangible policy changes with a focus on human rights for all.

For people living with metabolic disorders, and all rare conditions, the impact of conflict is particularly devastating. Fleeing your home is traumatic enough, let alone while living with a debilitating rare disease that requires frequent medical attention and a specialised diet.

We must act decisively. We must act collaboratively. We must act now.

Read our full "Rare In Conflict" statement.

“I have to stock up on gasoline for the generator in case the power goes out. Our medical apparatus cannot work without electricity for more than five hours. Then what?"

-Natalya Radysh, mother to two children with Type 1 SMA who lives in Lviv, Ukraine.

The war on drugs: Healthcare and medicine in conflict zones As at Monday 28 February a total of 15 000 medical professionals across Russia had signed an open letter to Vladimir Putin urging him to cease hostilities against Ukraine. They wrote: "For the moments of today’s war, we will pay for many years after.

Therefore, following our oaths and maintaining a humane and equal treatment of all lives, we demand an immediate suspension of all operations with the use of lethal weapons.”

How is healthcare disrupted?

Health systems suffer due to the damage to infrastructure such as hospitals and clinics. It triggers the flight of health staff, leaving understaffed health systems to cope with growing patient loads caused by the conflict. This is on top of the interruptions to supply chains.

Most hospitals rarely have stocks of drugs and consumables beyond a few days due to storage-space constraints and the cost of keeping large inventories. These stocks are rapidly consumed, particularly items needed for treating war injuries, such as antibiotics, blood products and dressings.

What does this mean for people living with rare disease?

There are an estimated 2M people in Ukraine who live with rare disease. These conditions are often debilitating, need frequent medical attention or a highly specialised diet.

The impact of the invasion threatens to bring more challenges for a community already facing difficulties since the deterioration of the political environment in 2014 when the conflict erupted. Ukrainian Department of Health figures show that 80% of patients with rare diseases in Ukraine lose their lives before the age of 5 due to a lack of systematic diagnosis and qualified treatment.

How can we help?

Metabolic Support UK are setting up an international co-production group to map a global network of peer-to-peer support for our rare communities – in peacetime and beyond.

Apply to join by emailing jonathan@metabolicsupportuk.org

Stronger Together: NSPKU & Ukraine The incidence of PKU in Ukraine is 1 in 7,143, and total population 44,246,158 and so estimated number of individuals with PKU is 6,194.

We are aware that 1 million Ukrainians will have now fled Ukraine - this would be 140 individuals with PKU and so we would like to ensure those people fleeing can access ongoing treatment for PKU, which is a highly specialist diet including protein substitute.

Those fleeing are likely to be predominantly women and children, and could include pregnant women with PKU, for whom treatment disruption is as undesirable as it is for children and younger people with PKU (anyone under 25 whose brain is still developing). (The adverse neurological outcomes would likely be irreversible).

The NSPKU wants to identify anyone with PKU coming into the UK and offer support, help in accessing GP, help locating a specialist metabolic centre and being seen promptly, getting access to treatment to minimise as much as possible, all disruption to their treatment.

The companies who produce prescribable (and some non-prescribable) products for people with PKU have been in contact with us too and wish to help these individuals. We do not know how many will be heading for the UK. Finally, ESPKU, the European network of societies such as ours, across Europe, are discussing ways to support all the European countries who will be taking Ukrainian refugees - in particular Poland, and the Polish PKU clinics have been heavily advertised for those needing to access help in Poland.

Know your IMD: PKU What is it?

Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.

Symptoms Newborns with PKU initially don't have any symptoms. However, without treatment, babies usually develop signs of PKU within a few months.

PKU signs and symptoms can be mild or severe and may include: A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body Neurological problems that may include seizures Skin rashes (eczema) Fair skin and blue eyes, because phenylalanine can't transform into melanin — the pigment responsible for hair and skin tone Abnormally small head (microcephaly) Hyperactivity Intellectual disability Delayed development Behavioral, emotional and social problems Psychiatric disorders

New developments: England's rare disease action plan

There are parts of the world where positive action is taking place, with 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 coordination of care; and 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 the priorities identified in the framework will be addressed.

Key commitments include: Improving how decisions are made on newborn screening for rare diseases Designing an ethically approved research pilot using whole genome sequencing To screen for genetic conditions in healthy newborns Piloting new approaches for diagnosis and care of patients with undiagnosed rare conditions Determining how best to include rare diseases in UK health professional education and training frameworks Developing a toolkit to increase the effectiveness of virtual consultations for patients with rare diseases Supporting rapid access to drugs for patients with rare diseases in the NHS Monitoring the overall uptake of drugs for patients with rare diseases and Mapping this access across the country Read England's first Rare Diseases Action Plan

"This action plan, developed in close collaboration with the rare disease community, continues to build upon existing UK strengths and addresses areas of weaknesses; translating ambition to progress".

-Maria Caulfield MP

We work for you March seems to have flown by for the Metabolic Support UK team and we have been busy building our resources, supporting members of our community, and reflecting on our own crisis response strategies. Like many, we were delighted to welcome the first day of spring on 20th and look forward to warmer and sunnier days ahead. However, we cannot ignore our members and colleagues currently caught in the Ukraine conflict and the impact the conflict and the associated sanctions are having on the international Inherited Metabolic Disorder Community.

Here is a round-up of some of our activities throughout the month of March.

Creating a rare in conflict response The conflict in Ukraine is a stark reminder that organisations like us are not doing enough to support the members of our community living in conflict zones. Not just in Ukraine but throughout the world. This month our team came together to create our ‘Rare in Conflict’ statement and action plan, setting out the steps we will take to improve the support we offer and calling on our partners and key stakeholders to do the same. You can read our Rare in Conflict statement here and contact our Communications Co-ordinator Jonathan, for more information.

Concluding our Hypophosphatasia insight project In January we were delighted to partner with Berry Insight, to run a three month insight project focused on the Hypophosphatasia community. The insight project allowed us to capture key information relating to; experiences of current treatment and medications, the impact of living with HPP on social life, mental health, education and employment and key wishes for the future. A big thanks to everyone who took part in this project. The project concluded at the beginning of March, and we were delighted to present the findings to the wider HPP community on 31st March at our very first insight webinar.

Working with members of the Urea Cycle Disorder Community On the 1st of March we were delighted to partner with Glasshouse Health and representatives from pharmaceutical company Immedica, to run a workshop centred on the experiences of members of the UCD community. Members of the UCD community joined us for an evening session as we explored themes relating to treatments, access, emergency care and attending appointments.

A big thanks to all those who registered and took part, this is an ongoing project, and we will share the results with the wider UCD community and all those who took part, within the coming months. .

Representing the voice of the IMD community to the NICE Our new Policy and Advocacy Manager Jak joined us this month and one of his first activities was to take part in the NICE public involvement survey. The NICE public involvement survey asked stakeholders to provide feedback regarding the development of clinical, social care and public health guidelines. As an umbrella organisation we take part in multiple treatment appraisals each year and the NICE guidelines determine how and when organisations and patient experts take part. We strongly believe that the guidance and consultation documents currently shared by NICE are inaccessible to many and we have been raising this as an issue during this reformation process.

Supporting You This month you have been contacting us for support for practical issues ranging from accessing funding for home adaptations, maintaining employment whilst living with a rare disorder to understanding the new-born screening process and outcomes. We have also received many financial support enquiries and are acutely aware that the impending energy price hikes will have an impact on many if not all members of our community. We will soon be sharing our thoughts on this subject including advice, information, and useful resources for those who may need them.

The MSUK team are always here to offer advice and support, please contact us by Calling: 0845 241 2173 E-mailing: contact@metabolicsupportuk.org Social Media Completing our online contact form: https://www.metabolicsupportuk.org/contact-us/

A day at MSUK: Kirsty As CEO of a small, agile, team, I have overall responsibility for making sure that we are both meeting the needs of our communities but that we run effectively as an organisation. So on any day I might be writing a fundraising application, dropping in on one of our ‘coffee and chat’ sessions with families or reviewing rare disease policy. I try to balance my work between offering our communities support today, through our online communities and our advice line, and advancing support for future generations with our longer-term policy and campaigning work.

As a single parent my day starts with the usual chaos of family life so settling down to my desk in calm silence is a pleasure! I feel privileged to work for our communities and try to remember this as I begin my day; the better we work, the better life can be for the people we support. I start each day by plotting out my tasks, intentions and ideas so that I can refer to them as the hours tick by.

As a team we check in regularly, as we all work remotely it’s really important to keep us connected and on track. We try to make sure we are responding to events such as the current conflict in Ukraine, or the cost of living crisis in the UK, sending out timely information and support to our communities, which means it is my role to balance our resources and support the team.

Kiersty Hoyle

London Marathon: Meet #TeamMSUK

Dave Eyre

Over the last six months I have spoken with several families who are, in some way, affected by a Metabolic Disorder (I'll be honest, up until this I wasn't aware of what a Metabolic Disorder is). It's from speaking with these families that they have talked me through the incredible support that they have recieved, and continue to recieve from Metabolic Support UK. With regards my participation in the 2022 London Marathon I hope to support in raising as much awareness as possible of what a Metabolic Disorder is and how people can help and also raise as much money as possible so that Metabolic Support UK can continue to provide the fantastic service that they do.

I'm really looking forward to the run and hope to meet some of the team along the way! If you would like to donate (as much or as little as you can afford) you can do so by the following JustGiving page.

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