Metabolic Matters (Issue 4)

APRIL 2022

YOUR MONTHLY MSUK MAGAZINE

Metabolic Matters

What's new with Newborn screening?

CONTENTS

FOCUS ON: NEWBORN SCREENING (PAGES 4-5) WORLDS APART: NEWBORN SCREENING IN DEVELOPING COUNTRIES (PAGES 6-7) KNOW YOUR IMD: TYROSINAEMIA (PAGE 8) NEW DEVELOPMENTS: TYROSINAEMIA AND NEW BORN SCREENING (PAGE 9) STRONGER TOGETHER: ALEX TLC (PAGES 10-11) WE WORK FOR YOU (PAGES 12-13) FABRY AWARENESS MONTH (PAGE 14) LONDON MARATHON: MEET #TEAMMSUK (PAGE 15) THE LONDON MARATHON (PAGE 16) GET INVOLVED (PAGE 17)

Focus on: Newborn screening

What is it?

Newborn blood spot screening is offered to every baby in the UK and has been in place since the late 1950s. This involves taking a blood sample to test for several severe disorders and leads to their early identification, aiding in timely intervention, meaning health outcomes for the patient can be improved, potentially preventing severe disability and even death.

How is it done?

When your baby is 5 days old, a healthcare professional will prick their heel and collect 4 drops of blood on a special card. Occasionally, the sample may need to be taken when your baby is 6, 7 or 8 days old.

Sometimes a second blood spot sample is needed. It doesn't necessarily mean there's something wrong with your baby and the test doesn't carry any known risks for your baby.

What does it test for?

Within the UK screening is focused on the identification of 9 conditions which are: Sickle cell disease, Cystic fibrosis, Congenital hypothyroidism, Phenylketonuria (PKU), Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), Maple syrup urine disease (MSUD) Isovaleric acidaemia (IVA), Glutaric aciduria type 1 (GA1) and Homocystinuria (pyridoxine unresponsive) (HCU).

What we're doing Metabolic Support UK have been busy working to ensure Tyrosinaemia is added to the UK's NBS panel (read more about Tyrosinaemia on the next page). Additionally, we've attended meetings with Screen4Rare, Jim Bonham, the International Society for Neonatal Screening and ScreenPlus to discuss the future of NBS both in the UK and internationally.

Finally, we're exploring partnership opportunities with Genomics England to assist in the expansion of the NHS Genomic Medicine service which aims to sequence 500, 000 genomes by 2023/24 for rare disease, cancer and infectious disease.

"An ounce of prevention is worth a pound of cure" Benjamin Franklin.

World's apart: Newborn screening in developing countries Many countries in Europe screen for 20 or more conditions, while parents in the US can opt to test for more than 50. Other countries, such as France, screen for fewer conditions than the UK. In many low-and middle-income countries, these life-saving screening programmes either don’t exist or only screen for one condition.

What's the problem?

Tests selected for new-born screening are added based off of treatability and benefit to the patient’s outcome based off of early diagnosis. A key consideration to these environments is that resources are poor and if a diagnosis is given but no treatment is in place, are we placing an undue burden on those diagnosed?

We must ask the question whether it is ethical to test people before there is a cure available in the country.

Cure VS Treatment

Despite lacking readily available cures, through identifying these conditions early, small adjustments such as diet and supplements can significantly improve patient’s outcomes and quality of life.

Cost effective. But not cost saving.

A review from the Partnership for Prevention concluded that most recommended clinical preventive services are cost-effective but not cost saving. NBS has been shown to be highly cost effective, however, this is in a Western context and in LMICs with a large population and limited access to modern medicine, services would need to be improved significantly to ensure access to NBS, and its benefits.

What must be done...

It is our duty to ensure no one suffers and dies of treatable/curable disease regardless of geography. We must use our expertise to expand NBS globally, whilst also simultaneously providing a safety net of accessible treatments to enable people to take control if they receive a positive diagnosis.

Every child deserves a chance.

Know your IMD: Tyrosinaemia What is it?

Tyrosinaemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems.

Symptoms Tyrosinaemia symptoms tend to fall into two categories, acute and chronic.

In the acute form of tyrosinaemia, babies experience symptoms within months of birth. They may not gain weight properly, have an enlarged liver and spleenand a swollen abdomen, which are symptoms of other liver diseases. Jaundice is unusual. Babies with tyrosinemia also have swelling of the legs, and an increased tendency to bleed, particularly nosebleeds. These babies may need liver transplants right away.

The chronic form of tyrosinaemia presents after 6 months with a more gradual onset and less severe symptoms. Enlargement of the liver and spleen are the main symptoms, the abdomen is distended with fluid, and these children may have trouble gaining weight. They may vomit or have diarrhea. Liver disease develops more slowly, eventually leading to cirrhosis.

New developments: Tyrosinaemia and newborn screening The last review for adding tyrosinaemia type 1 to the newborn screen concluded that this test is not recommended because the accuracy of the screening tests is unclear and it is unclear whether an earlier treatment would be beneficial.

More research has been done to establish if the benefits of screening outweigh the harms.

The next review takes place this year in which the evidence of this study will be assessed and a decision should be made on whether or not to add Tyrosinaemia to the newborn screen or whether more testing is required.

Stronger Together: Alex TLC NHS England have commissioned an Inherited White Matter Disorder (IWMD) Diagnostic and Management Service (all ages) and Patient Registry. The service will provide national access to specialised treatment and improved outcomes for all patients. The Patient Registry will collect and analyse data from patients with a genetic leukodystrophy as provided by medical professionals, patients, and/or patient representatives, such as designated family members/carers. The aim is to help support diagnosis, direct care management, treatments, and outcomes as part of the patient’s pathway of care, as well as collect data on the psychosocial impact of these conditions on patients and those that care for them.

Alex TLC have been involved in the development of the IWMD Service and Patient Registry as the patient voice representative for the Development Committee from the outset. We developed and conducted a survey to determine what patients wanted from the Registry. The findings showed the most important aspects were for the Registry to be user friendly, promote regular interaction, allow constructive feedback, allow patient’s access to and autonomy overdata held, allow reporting of non-medical factors and to provide data for research. Metabolic Support UK supported Alex TLC in the development of questions within the patient/patient representative Registry sections and patient information for the Registry website, as an additional patient group on the Registry Development Committee.

NHS England will roll out the IWMD Service later this year, with IWMD centres for both adults and children spread across England.

To find out more about the IWMD service, please visit: https://bit.ly/3M9LRfc

Alex TLC is a trusted and experienced organisation offering support and information for all those affected by a genetic leukodystrophy.

We work for you It’s been another busy month at Metabolic Support UK HQ, despite remaining remote in our working methods we have been speaking to lots more of you this month. We’ve been chatting with you during our re-launched coffee and chat sessions, 1:1 insight interviews or providing support via phone or e-mail. It’s been great to see some regular faces at our coffee and chat sessions and learn more about your experiences, challenges and how we can support you. For more details on what the MSUK team have been up to this month, check out our short articles below.

Resources for Homeless and Refugee Centres In our last edition we introduced you to our ‘Rare in Conflict’ statement outlining the steps we will take to improve the support we offer to those caught in conflict. This month, our focus shifted to those arriving in the UK and the issues/challenges they may face when trying to navigate a new healthcare system.

We pooled our resources with fellow patient organisations and designed a resource outlining; the three types of care in the UK, access criteria, a list of all Inherited Metabolic Disorders, a list of the metabolic centres and most importantly the patient organisations that offer support. We distributed this resource to homeless and refugee centres throughout the UK and received some great feedback.

Working with XLH UK and the FGF23-related hypophosphataemia in tumourinduced osteomalacia community This month, we were approached by the National Institute of Care and Excellence to take part in their appraisal of Burosumab for people living with FGF23-related hypophosphataemia in tumour-induced osteomalacia. We partnered with our colleagues at XLH UK and collaboratively facilitated a short insight survey to gain feedback and experiences from the FGF23 TIO community.

The drug appraisal process can be a long and drawn-out process involving a lot of data gathering and input from patients, patient organisations and specialists.

Therefore, we anticipate receiving an outcome by the end of the year at the earliest. Thanks to everyone who took part in this survey, keep an eye out for opportunities to take part in our FGF23 TIO interviews during May and please contact Jak if you would like further information jak@metabolicsupportuk.org.

Exploring New-born Screening in the UK and internationally

The Big Three

New-born screening has been a hot topic this month due to the release of the Rare Disease England action plan in February, outlining proposed changes to the New-born Screening process.

Our communications coordinator Jonathan has been taking a lead in this area, meeting with the International Society for Neonatal Screening, Screen4Rare and ScreenPlus to discuss the future of newborn screening and what we can do to ensure no child is left behind.

We may be small compared to non-rare organisations, but we are certainly mighty. In our next edition we will be introducing the ‘Big Three’ projects we will be working on over the next few months/years. However, we couldn’t resist giving our community a sneak peek on what is to come! This year we will be commencing our; Get Involved Clinical Trial Hub, Inherited Metabolic Disorder Service Review and forming an Inherited Metabolic Disorder data set. Each of these projects have been designed to enhance, improve and elevate the services and treatment pathways available to our community. Within the next few months, we will be calling on our rare disease partners and members of the community to get involved in these projects.

Supporting You Did you know we don’t just offer support to patients and families?

We also provide support and advice to healthcare professionals and researchers. This month we have received an increase in support requests from healthcare professionals in relation to families seeking refuge, support for newly diagnosed families and new and innovative treatments.

We have also been providing support to our community and recently established a new online community for people living with Tyrosinemia, to join this community please contact jonathan@metabolicsupportuk.org. Requests for peer support have been a popular theme this month and we have been busy connecting you with others to help you expand your support networks.

Thanks to everyone who has contacted us this month, you may receive an email from us in the coming months as we implement 360 reviews of our individual support services.

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/

Fabry awareness month April is Fabry Awareness Month and this years aim was to highlight what life is like living with Fabry disease and delve into a world that can often be hidden from society.

What is Fabry?

People who have Fabry disease don’t have the enzymes that break down lipids or fats. These fats collect in blood vessels and tissue, raising the risk of heart attack, stroke and kidney failure.

This genetic condition is passed from parent to child. Enzyme replacement and oral chaperone therapy can help prevent serious complications.

Want to learn more?

Our friends at the MPS society UK have released some briliant resources to give you and insight into what it's like to live with the condition, visit their site to discover videos and stories from real people. https://bit.ly/3MhHI98

London Marathon: Meet #TeamMSUK

Sean Barrie Rafton Sean is a long-term fundraiser and friend of Metabolic Support UK. Learn more about his background and the incredible work he does for charities like ours through his running.

This year he takes on the London Marathon as part of #TeamMSUK, support him and donate to his fundraiser here: https://bit.ly/3ujYJJm

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