JUNE 2022
YOUR MONTHLY MSUK MAGAZINE
Metabolic Matters celebrating metabolic disorders awareness week 4th-10th july
CONTENTS
Focus on: Inherited Metabolic Disorders (Page 4) Metabolic disorders awareness week (Page 5) New developments: Our big three IMD projects (Pages 6-7) Know your IMDs: Urea Cycle Disorders (Pages 8-9) Hyperammonemia and Urea Cycle Disorders (Page 9) We work for you (Page 10-11) London Marathon: Meet #TeamMSUK (Page 12-13) The London Marathon (Page 13) Hypophosphatasia (HPP) discussion toolkit (Page 14) Get involved (Page 15)
Focus on: Inherited Metabolic Disorders
What are Inherited Metabolic Disorders? Inherited metabolic disorders (IMDs) are genetic conditions that result in metabolism problems. Most people with IMDs have a defective gene that results in an enzyme deficiency. How are Inherited Metabolic Disorders diagnosed? Some Inherited Metabolic Disorders can be diagnosed by routine screening tests done at birth. Others are identified only after a child or adult shows symptoms of a disorder. How are Inherited Metabolic Disorders treated? Treatment for an IMD depends on the type and severity of the disorder. Treatment recommendations may vary considerably, from dietary restrictions to liver transplants. What is a Metabolic Crisis? A clinical state where toxic compounds accumulate to unusually high levels.Without treatment, a metabolic crisis can cause serious harm to the patient. These can be fatal if left untreated. (These are only a feature of some IMDs)* Why do Metabolic Crises occur? Metabolic Crises can be triggered by a multitude of factors. They are often triggered by illness or infection, going without food for a long time, and, in some cases, heavy exercise. (These are only a feature of some IMDs)*
Celebrate Metabolic Disorders Awareness Week 4th-10th July 2022 Download our social media pack to share information and statistics on IMDs Use hashtag: #MetabolicDisordersAwarenessWeek and tag us: Twitter: @weareMSUK Facebook: MetabolicSupportUK Instagram: MetabolicSupportUK Download our social media pack here
New Developments: Our big three IMD projects
Get Involved Hub (IMD Clinical Trial and Insight Hub): Metabolic Support UK will build a central source of information for all IMD Clinical Trials, Research, Insight and Patient Engagement opportunities. We will work in collaboration with all stakeholders to establish this information. The aim of this central source is to provide accessible, patient-focused information to all stakeholders within the IMD landscape, centralising all relevant opportunities for patient engagement.
Inherited Metabolic Disorder Review: Metabolic Support UK will undertake a full review of all IMD’s, building a best practice IMD data set. The IMD review will allow us to create a data set that will lead and inform the work of MSUK and associated partners. The data set will include topics such as diagnostic pathways, symptomatology, treatment pathways, prognosis, mortality rates, geographical mapping and new treatments and medicines. The aim of this review is to understand how and where people living with Inherited Metabolic Disorders are treated and identify symptomatology trends, linking in with the wider IMD service review next.
IMD Service Review:
Metabolic Support UK will work in partnership with other rare disease organisations to undertake a collaborative review of all Inherited Metabolic Disorder services in the UK. The first phase of the service review will begin in England and phases two and three will follow in the devolved nations. The service review will consider the implementation of the rare disease frameworks including the implementation of the Integrated Care Systems, which will impact the provision of services throughout 2022 and beyond. The project outcomes are anticipated to be a published review report and the formation of a task group to address any issues we find. The purpose of this review is to: •Provide an overview of current and planned service provision for those living with Inherited Metabolic Disorders in England including clinical workforce •Identify and highlight any gaps within geographical service provision •Provide an opportunity for all stakeholders to share their experiences of service provision •Support all IMD stakeholders to understand the socio-political-economic drivers that frame and impact how, when and by whom IMD patients are treated
What they mean for people living with IMDs: Better access to research and clinical trials with increased transparency. Increased awareness of the common issues faced by people living with IMDs allowing focus to be placed on improving your life. Greater understanding of services to ensure no one is left behind.
Know your IMDs: Urea Cycle Disorders (UCDs) What are UCDs? UCDs occur in about 1 in 8000 to 44, 000 births and are an Inherited Metabolic Disorder that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream.
Symptoms Symptoms may occur either in the neonatal period, during childhood or during adolescence or adulthood. In the neonatal period, babies usually present with symptoms shortly after birth. Symptoms include irritability, drowsiness, rapid breathing, poor feeding, vomiting and an enlarged liver. This progresses to seizures, low muscle tone (hypotonia), respiratory distress and in some cases, coma and become life threatening if they are not treated. Symptoms that present during childhood may include behaviour changes, an enlarged liver and avoidance of meat or other high-protein foods. Individuals may experience vomiting and may become lethargic and experience neurological symptoms especially after high-protein foods or during a period of illness. Episodes of high levels of ammonia in the blood (hyperammonaemia) can be caused by high-protein foods, viral illness and exhaustion. In the adolescence/adulthood onset, individuals may be lethargic, delirious and exhibit stroke-like episodes. Symptoms usually occur after viral illness, increased protein in the diet, childbirth and the use of anti-epileptic drugs known as valproic acid. Individuals are at high risk of permanent damage to the brain, coma and death if they are undiagnosed and untreated.
Diagnosis Analysis of the blood and urine is undertaken to check for abnormal metabolites (a substance produced by the body’s metabolism), and high ammonia levels. To confirm the diagnosis, a liver biopsy can be done. Alternatively, genetic testing can be undertaken which investigates certain genes responsible for UCDs.
How are UCDs treated? Treatment can be is a lifelong process and the main aim is to keep the level of ammonia in the blood down at safe levels.The treatment involves: dietary protein restriction, medications, amino acid supplements, liver transplantation. People with UCDs are given an emergency protocol to follow during periods of illness or if they feel unwell. As well as treating the symptoms, support can also be offered to people with UCDs from organisations such as ourselves, healthcare professionals and other parties.
Hyperammonemia and UCDs The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a compound called urea and removed from the blood. Normally, the urea is removed from the body through the urine. In UCDs, nitrogen builds up in the blood in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia) When ammonia builds up, it can reach the brain through the bloodstream, after which, it can cause irreversible brain damage, coma, and event potentially death, due to the toxicity of this substance.
How we support our UCD community Metabolic Support UK strongly supports our UCD community, continually advocating for continued access to treatments and supporting individuals throughout every other aspect to ensure that despite diagnosis, they have the best quality of life possible. We have recently been made aware that in some instances those in receipt of Ravicti were unable to access adequate numbers of syringes or believed they were being provided with incorrect syringes from their pharmacies. We liaised with Immedica regarding this issue who were supportive and enabled us to address any confusion in syringe use. Metabolic Support UK also participated in a joint discussion with Immedica and a medicines management nurse to address challenges in syringes from different perspective and this has led to a continuation of work in this area with wider advice being developed for prescribing teams. We look forward to keeping our UCD community abreast of all new developments in this area. Immedica have also launched a site https://ucdandyou.com/ which may be helpful.
We work for you Another month has flown and now we find ourselves halfway through the year. The last six months have been filled with activity, opportunities and most importantly your support. We would like to take this moment to reflect on the last six months and thank all of you who take part in our activities, fundraise for us, read our communications including Metabolic Matters, share your stories, thoughts, ideas and to those of you who regularly donate to us. We honestly couldn’t do what we do without your support and involvement, so a big thank you from the MSUK team to you all. Read below to find out more about what the MSUK team have been up to this month. Developing our Resources Our Marketing and Communications Coordinator Jonathan has been busy working on our new website. In January 2022 we decided to give our current website a makeover and Jonathan has been busy working his magic to improve the site. Our new site includes additional features such as disorder specific hubs, a resource centre, insight hub and much more. Jonathan is currently putting the finishing touches to the hub which we aim to launch within the next 1-2 months. Jonathan has also been busy redesigning our patient toolkits and resources. The toolkits have been updated, given new designs and will be fully accessible. The toolkits range from benefits and money management to supportive tools when attending appointments. You will be able to find the toolkits in the resource centre on our new website. Preparing for Metabolic Awareness Week Metabolic Awareness week will soon be upon us, and we are looking forward to using this week to raise vital awareness about Inherited Metabolic Disorders and the matters that affect you. Jonathan has been busy creating our social media packs and materials and distributing these to our fellow patient organisations. Metabolic Disorders Awareness Week runs from 4th to 10th July, there are lots of ways to get involved, for more information please contact jonathan@metabolicsupportuk.org. You can also get involved by sharing your story on social media and using the hashtag #MetabolicDisordersAwarenessWeek.
Working with Gen QA Our Patient Communities Manager Helen has been working with the Genomics Quality Assessment team to encourage those living with MCADD to provide blood samples. Gen QA are a UK-based group who assess the quality of genomics testing in laboratories in the UK and overseas. The blood samples provided are tested by different laboratories and the results are submitted to Gen QA. Gen QA then review the results and provide feedback and advice to the laboratory on the quality of their assessments. This process ensures that laboratories are providing accurate and reliable test results and advice to healthcare professionals and patients. By collaborating on this project, MSUK can ensure that results given to those with Inherited Metabolic Disorders are accurate and reliable. If you would like more information about this project please contact helen@metabolicsupportuk.org. Sharing opportunities with you There are many opportunities to have your say and get involved in the work not only MSUK does but also the work of our partners, within the wider rare landscape. This month we have been busy sharing opportunities for you to get involved and share your experiences, ranging from nomination to scientific advice board committees, sharing your story on social media, participating in a workshop with genomics England to speaking with ITV news about your experiences of the NHS backlog. There are many changes taking place in the wider rare disease landscape and lots of opportunities for you to get involved and have your say. We will always share opportunities via our social media platforms and newsletters, you can follow us on social media using the links below or subscribe to our newsletter by e-mailing jonathan@metabolicsupportuk.org. Supporting You This month lots of you have been contacting us for support to either obtain a diagnosis or following a diagnosis. We understand that support during the diagnostic journey is vital for wellbeing and to ease anxieties. Therefore, we have ensured that diagnosis support is featured in our newly developed resource centre. We will continue to update our diagnosis resources and if you have any questions or would like to help, please don’t hesitate to contact us. We have also received lots of enquiries regarding access to treatments and treatment options. The advice and information we provide is tailored to every individual and their needs, guaranteed to give you the support and advice you are seeking. Thanks to everyone who has contacted us this month if you are seeking support or information please contact us. Calling: 0845 241 2173 E-mailing: contact@metabolicsupportuk.org Social Media Completing our online contact form: https://www.metabolicsupportuk.org/contact-us/
London Marathon: Meet #TeamMSUK Thu is running for us as someone who wants to support others with rare diseases and here she tells us a little of her story
Thu Pham Abdon I have a rare disease (occurrence of 1 in 25,000), albeit not metabolic, that hit me when I was pregnant with my second child. I suddenly lost an entire half a litre (17 oz) of fluids EVERY 30 minutes night and day. I could not get a good night’s sleep for over 4 months. I could not properly function and felt like a zombie. I fell asleep during my first child’s 2nd birthday as my body was screaming for any recovery minute it could get. I lost 5 kg (11lbs) instead of gaining weight during those terrible first 4 months. I was drinking any available liquid that was in our apartment: ice cold water from the faucet, lukewarm ice tea from the cupboard, whatever tea in masses. Half of it came straight out again as my stomach could not cope with the amount. My doctor told me to stop drinking the 8-10 liters of whatever I was gulping non stop. That it was all in my head. In the end, she prescribed me antidepressants denying any effect it would have on my little baby in my belly. That was when I had enough, something was definitely wrong with me but my mind was absolutely fine (besides the lack of sleep). With my family’s and especially my husband’s support I went for a second opinion in the emergency room at a local hospital. I had the suspicion that it could be Diabetes Insipidus (DI) fitting to my unquenchable thirst regardless of how much I drank and the frequent bath room visits. The doctors in the hospital did not know DI, either, but they put me on a water deprivation test and alas – after 8 hours of no water and my complete desperation, my sodium level raised, I received a relieving vasopressin injection to tell my body to keep the water in the organs.
It was the very first night after 4 endlessly long months where I got 6 hours of uninterrupted sleep in a row! I was so grateful to finally have a diagnosis, life saving medications and after another 5 uneventful months finally cuddle my healthy baby boy in my arms! 9 years later, I still have Insipidus but am able to efficiently manage it on demand with vasopressin. I run for MSUK because they help thousands of patients with Inherited Metabolic Disorders worldwide every year. These are rare diseases, patients and their families struggle through the often very long diagnosis process and appreciate any vital service and help they can get.
Donate to Thu's fundraiser here
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
Hypophosphatasia (HPP) discussion toolkit We are pleased to share this HPP discussion toolkit which is designed to make it easier to discuss questions about your HPP care and other healthcare matters with your consultant. Metabolic Support UK participated in workshops to assist in the development of this toolkit, produced by Alexion. Please take the time to answer these questions before your upcoming appointment - this should not take more than 5-10 minutes. Download here
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
