M4RD Ambassadors

AMBASSADOR 2024/2025

Haafeza Laheri

Let me introduce myself as a woman living her best life – 3 months from turning 40! 

Life has thrown many curveballs over the years. I live with several challenges including chronic pain and mental illness, and at one stage I found myself in rehab learning to walk and speak again! During this time I found strength in reading books and in my own writing of verses and short stories, which helped me to be resilient during my healing journey. Now, I’m learning to embrace my new identity with the support of my three beautiful children.

Living with Hemiplegic Migraine has brought me many opportunities, including the chance to act as an Ambassador for M4RD. I look for the positives in every situation and in other people, and I’m looking forward to connecting with those who have similar interests.

I’m lots of fun to be around and enjoy making others laugh. I love exploring nature (especially the coastline), photography, spending time with animals, and eating delicious food. 

Reach out, listen, and of course #ShowYourStripes!

AMBASSADOR 2024/2025

Paul Edwards

My name is Paul Edwards (46 years old) and I live in Solihull in the West Midlands. I’m an M4RD Ambassador because I care for a family member with the ultra rare brain condition called AARS2 leukodystrophy. With at present only three confirmed cases known in the UK it is hard to find others that may have this condition. Not much is known about this condition but can involve mild dysphagia, arm tremor or if both bilateral arm tremor, speech and language problems, mobility issues, incontinence plus more. I have been looking after my family member for over seven years and they are still doing very well. I would like to think that I am knowledgeable in this field but would love to learn more about other conditions. I am a full time university student at The Open University studying Certificate of Higher Education in Health Sciences alongside a Certificate of Higher Education in Human Biology

AMBASSADOR 2024/2025

Dr Connie Yu

Connie is currently a Paediatric trainee, based in London. Her interest in rare diseases evolved organically through working with children and families living with rare conditions. In her role as M4RD ambassador, she hopes to support the team in advocating for increased education for healthcare professionals.

AMBASSADOR 2024/2025

Mohamed Abdinur

Senior clinical Fellow in Medicine at Imperial Healthcare NHS, established with the Patient and Community group for Rare Diseases in Somalia, which I represent as a voice for patients with rare diseases and their communities in underserved healthcare services in Somalia.

AMBASSADORS 2024/2025

Kevin Lee Boon Chun

Aspiring Clinical Geneticist pursuing a Master’s in Clinical Neurosciences at Oxford

AMBASSADOR 2024/2025

Isha Ediriwira

Isha is a second-year medical student at Barts and The London School of Medicine and Dentistry. She has worked for nearly three years as a vaccinator, administering COVID-19, polio, flu, and monkeypox vaccines, including at one of the first monkeypox clinics. Through this work, she has worked with diverse populations, ranging from children and refugees to patients in community clinics and homeless outreach programs.

This role exposed her to a wide variety of rare diseases and deepened her interest in public health. Additionally, Isha has worked as a healthcare assistant in COVID, cancer, and stroke wards, gaining valuable insight into patient care while working with amazing teams. She’s really excited to bring her experiences and enthusiasm to her role as an M4RD ambassador.

AMBASSADOR 2024/2025

(Ashley) Youn Seon Choi

After my research experience on telomere dysfunction and cancer relevance, I became interested in the genetic aspect of rare cancers and the development of treatments. Especially, Bloom Syndrome’s genetic instability as a predisposition to cancer fascinates me! The pathway of how BLM protein mutation leads to genomic instability and increases the risk of cancer is what I wish to gain more knowledge on!

My motivation of presenting Rare Disease community is to raise the awareness of rare diseases in UK. Rare diseases often receive less attention, but they can have a significant impact on those affected and their families. Increasing awareness and research in this area is crucial for improving treatment and support.

AMBASSADOR 2024/2025

Dr Jennifer Gardner

I am a Consultant Clinical Geneticist working in Wales. My job mainly focuses around people with rare diseases. As part of that role, I work towards diagnosing and helping to plan management. My particular areas of interest include Tuberous Sclerosis, Cardiogenetics and ‘undiagnosed’ patients as part of the Syndrome Without a Name (SWAN) service.

I am keen to be involved with M4RD to support and advocate for our rare disease community in Wales, and across the UK.

AMBASSADOR 2024/2025

Alicja Kwiecinska

My name is Alicja Kwiecinska and I am delighted to be an ambassador for M4RD! I am a 4th-year medical student at the University of Oxford.

My interest in rare diseases comes from a variety of experiences with them, both personally and within my family. I am an M4RD Ambassador because I think it is vitally important that rare diseases are recognised in healthcare, and patients can advocate for themselves in the consultation room.

Ask me about anything! I would love to have a chat and hope to include many different perspectives on rare diseases in my ambassadorship.

AMBASSADOR 2024/2025

Toni Oduwole

I’m Toni, and I’m a final-year medical student. I became an M4RD ambassador because I think it’s important for people with rare diseases to feel empowered and heard. Medical professionals can sometimes unintentionally contribute to the challenges faced by those with complex health conditions. I want to raise awareness about rare diseases among future doctors to help change this.

Ask me about the best cheap food places in London- trust me, I’ve tried a lot!

AMBASSADOR 2024/2025

Dr Matthew Spencer

I’m Matthew Spencer, a paediatric trainee who is currently working in South Wales. I’ve had an interest in rare disease since my undergraduate degree in Genetics. I have been fortunate enough to work (alongside my paediatric training) as the clinical fellow for the Syndrome Without A Name (SWAN) team in Cardiff, South Wales. This role has allowed me to learn more about and develop my interest in rare diseases and especially those without a diagnosis. I’ve learnt to appreciate the challenges that this subset of patients go through and look forward to being a medics 4 rare disease ambassador.

In my spare time I love to travel, take trips in my campervan and walk our dog ‘Inca’ on the beach.

AMBASSADOR 2024/2025

Sarah Winzar

Parent to a young person with a life limiting disease, passionate about injustice.

AMBASSADOR 2024/2025

Dr Kim Daybell

Dr Kim Daybell – Two time Paralympian and Commonwealth Silver medallist. Resident Doctor, Core medical trainee and aspiring Sports and Exercise medic.

Ambassador for Polands Syndrome UK charity (PIP-UK) and excited to join the M4RD team!

AMBASSADOR 2024/2025

Isha Arilal

I’m based in Manchester, working as a Project Manager. I was born with Epidermolysis Bullosa Simplex.

I’m an M4RD Ambassador because I’m passionate about raising awareness for rare diseases, empowering patients, and driving change in healthcare for the often overlooked.

Ask me about how we can make a difference together!

AMBASSADOR 2024/2025

Emma de Pretis

I’m an M4RD Ambassador because I was diagnosed with a rare disease when I was 19 and have been trying to serve this community ever since. I’m particularly passionate about providing a voice for young adults affected by rare diseases, so ask me about managing rare disease in adolescence/young adulthood. Since diagnosis, I’ve been working on launching a med tech start-up, based in London.

AMBASSADOR 2024/2025

Michelle Robinson

My name is Michelle Robinson, I live in Northern Ireland and I have Primary Ciliary Dyskinesia (PCD).

I’m an M4RD Ambassador because I want to advocate for myself and others living with a rare condition. For the last few years I’ve been volunteering with PCD Support UK, and working to support their communications through social media.

I was recently given my ‘official’ diagnosis of PCD earlier this year, although I have been aware of the condition and 99% certain of it since I was 21. To put that in perspective I turned 34 this year, so it’s been a long journey to get an official diagnosis and I know how frustrating it can be for patients who are struggling to get answers and how important advocating for yourself and your health really is.

Ask me about:
I love to share my knowledge of PCD, and raise awareness for the condition and life with a lung disease so please ask me about it!

I’m also passionate about nature, and work for a leading conservation charity as an Events and Communications Officer. On the weekends you’ll find me bird spotting on a dog walk with my husband and 2 spaniels Scout and Margot, or with a coffee and a pastry often in hand planning our next adventure whether its camper vans, flying to another country or a staycation with the pups near a beach.

AMBASSADOR 2024/2025

Katie Callaghan

Hi, I’m Katie, 22 years old from Hertfordshire and the founder of the charity Cards for Bravery. Living with multiple rare diseases, including Chronic Intestinal Pseudo Obstruction, I’m deeply passionate about amplifying youth voices in healthcare and the rare disease community. As an Ambassador for Medics 4 Rare Diseases, I’m committed to raising awareness and driving change for those affected by rare conditions.

I’m an M4RD Ambassador because: I’m passionate about advancing awareness of rare diseases and ensuring that youth voices are heard in healthcare discussions from the very beginning.

Ask me about: youth voice in healthcare!

AMBASSADOR 2024/2025

Charlotte Chapman-Hart

My name is Charlotte, I am born and raised in Nottinghamshire UK. Previously I have achieved a BMedSci as well as an MA in Global Justice, and also an MA in Philosophy. Currently I work as an NHS Project Manager.

I’m an M4RD Ambassador because I was unexpectedly diagnosed with Chiari Malformation and Syringomyelia 10 years ago and I am passionate about sharing my experience to:

1) Raise awareness
2) Be an advocate for those living with rare disease(s) and their families,
3) make change happen!

Following urgent major brain surgery my life and that of my family’s has changed beyond measure. Whilst the challenges have shaped the resilient and enthusiastic individual I am today, they have also nearly cost me my life – more than once – due to lack of communication and coordination of care.

Ask me about anything!…My younger years as a ballerina, my diagnosis / conditions, my symptoms, my treatment, my surgery, my family, my studies, my profession, my favourite colour etc etc etc. I hope to bring nothing but honesty and open-ness to this role.

AMBASSADOR 2024/2025

Kelly Jiayi Gu

Hi! I’m Kelly Jiayi Gu and I’m a 3rd year medical student at Cardiff University. I’m from Hong Kong and have lived in the UK for 4 years. I’m excited to be an M4RD ambassador

AMBASSADOR 2024/2025

Dr Helen Couch

Dr Helen Couch graduated from the University of Cambridge School of Clinical Medicine (2014) and currently works as a Paediatric Registrar at Cambridge University Hospital.
In 2022 Helen’s youngest daughter was unexpectedly born with a rare, life-threatening condition – Congenital Hyperinsulinism (CHI). She was inspired by the work of both the Children’s Hyperinsulinism Charity UK and Congenital Hyperinsulinism International to raise awareness and improve the lives of children with CHI and their families. Helen is passionate about early diagnosis and improving access to new technology, such as continuous glucose monitoring, for children with CHI.

In 2024 Helen was awarded the Tizard Prize by the British Paediatric Surveillance Unit of the Royal College of Paediatrics and Child Health, to undertake a prospective study across the UK and Ireland that aims to discern the incidence of both transient and persistent forms of Hyperinsulinism, and enhance knowledge of its diagnosis and early clinical management. Helen is also an active member of the Congenital Hyperinsulinism International Collaborative Research Network.

Helen’s unique perspective as a paediatrician and mother of an infant with a rare disease motivated her to become a M4RD Ambassador. Her goal is to use this opportunity to encourage resident doctors to check blood glucose early and to Dare to Think Rare.

AMBASSADOR 2024/2025

Wayne Belfitt

Wayne is an eighties child, diagnosed with Late Onset Pompe in 2006 after 13 long and frustrating years of investigations. After getting lost in life, he decided nearly 10 years ago to go back into education and graduated as a social worker.

Wayne’s driving force was to help other individuals with physical impairments who also find themselves lost in life and struggling with the social care and healthcare systems. Wayne is very much a people person and loves to get to know everyone and find out about them and their journeys. He’s very keen on learning new things and enjoying life to the full in a positive manner.

Wayne has been involved with various different projects with medics and pharmaceutical companies to better help raise awareness of rare diseases and the impacts of living daily life with a rare disease. He sits on a community advisory board of the International Pompe Charity and, in 2022, he also joined the Pompe Support Network’s board of Trustees.

AMBASSADOR 2024/2025

Sophie-Mira Roberts

Hi, I’m Sophie. I’m passionate about raising awareness and advocating for individuals living with rare diseases. My personal journey with a rare condition inspired me to study Human Biology at the Open University and pursue research and engagement opportunities in genetics. Through my work with the GRACE project and contributions to The Economist, I’ve gained a deep appreciation for the importance of accessible science communication. I believe that together, we can make a significant impact on the lives of those affected by rare diseases and create a more supportive and inclusive community. As Helen Keller the disability activist, said ‘Alone we can do so little; together we can do so much’.

AMBASSADOR 2024/2025

Chris James

I’m Chris James and I live in Romford, East London. I’m a civil engineer, working mainly on projects that deal with infrastructure engineering.

I chose to be a M4RD ambassador, in part, because my daughter was diagnosed with Cerebral Prolific Angiopathy (CPA) which is an extremely rare neurological disease that presents with seizures, migraines and/or transient ischemic attack (TIA), known more widely as a ‘mini-stroke’.

Currently, treating a CPA comes with too many risks. Patients are conservatively managed and their symptoms are controlled using various pain and anti-seizure medications. This diagnosis and lack of knowledge and support left our family feeling isolated – with the support of GOSH, my wife and I started a patient advocacy group, bringing people together to provide support.

In my spare time I play lots of football, when I’m not side-lined with seemingly constant injuries. Ask me about anything, I love a chat.

AMBASSADOR 2024/2025

Rhiannon Armstrong

My name is Rhiannon Armstrong and I work as a Clinical Nurse Specialist for the All Wales Adult Inherited Metabolic Disease (IMD) Service. In 2001 I graduated from the University of Wales College of Medicine, Cardiff with a Bachelor of Nursing (Honours) degree in Adult Nursing and worked for a number of years as a Critical Care Nurse, both at the bedside and within the practice education team, at the University Hospital of Wales, Cardiff. Through proactive case management I deliver complex care, manage risk and act as an advocate for the patients who fall under my caseload. My role involves acting as a care coordinator for adults and their families across Wales, as well as supporting their holistic needs. I also have a keen interest in gathering information on rare diseases and lead on the design and bilingual content of the All Wales Adult IMD Service website.

My interest in becoming a M4RD Clinical Ambassador was ignited after working alongside Dr Gisela Wilcox (Consultant in Medical Biochemistry & Metabolic Medicine; North Wales Clinical Lead) at the University Hospital of Wales. I am passionate about making a difference to the patients and families who are under the care of our service. My hope and aims whilst being in the role would be to use my experience in teaching students and newly qualified nursing staff to encourage other clinicians and students to ‘think rare’ and to raise awareness of rare diseases amongst some of the various multidisciplinary teams and services in Wales.

You can ask me about Proactive case management and the delivery of complex care for adult patients with general Inherited Metabolic Disorders as well as Lysosomal Storage Disorders. As a Clinical Nurse Specialist, I have witnessed the long and complex journey that some patients and their families have faced in search of the correct diagnosis, and am conscious of the need to raise awareness of rare diseases within both medical and non-medical communities, to help reduce the diagnostic odyssey.

AMBASSADOR 2024/2025

Dr Ibiyinka Daramola

I am a GP Registrar in Cumbria with an interest in clinical genetics. I got to know about M4RD whilst searching for how to provide support for patients with genetic conditions/rare diseases.

I am an M4RD Ambassador because I want to lend my voice in raising awareness of rare disease and rare disease patients in the clinical and non-clinical space

AMBASSADOR 2024/2025

Adam Galloway

Adam is a Clinical Academic Physiotherapist in Children’s Orthopaedics. Currently completing a NIHR Clinical Doctoral Research Fellowship in Perthes’ Disease. Based clinically at Leeds Children’s Hospital, and academically in the School of Medicine, University of Leeds. During his PhD Adam has developed an app to help children self-manage a rare hip condition called Perthes’ Disease.

I’m an ambassador for M4RD because I am a researcher and I want to know more about how I can support children with rare diseases and their families to make sure that any research we do is designed by and for those who need it most.

Ask me about how I’ve involved children with a rare condition in my PhD studies and about the development of an app to help them self-manage their condition.

You can find out more about Adam’s work on the Non Stop website here

Leeds Children’s Hospital

or by checking out his social media page here

https://x.com/GallowayAdam

AMBASSADOR 2024/2025

Simranjeet Singh Grewal

My name is Simranjeet Singh Grewal and I’m a current fourth year medical student at St George’s Medical School in London. I’m a previous BSc Optometry graduate and also completed a MRes in Brain Sciences at the UCL Institute of Ophthalmology.

I’m an M4RD Ambassador because during my MRes at the Institute of Ophthalmology I was working closely with a lab which looked at researching Best Disease, a rare inherited retinal disease. I worked closely with my supervisor, Dr Carr, and the team to create an online webtool which provided information to patients with Best disease and other related inherited retinal diseases. This was information we personally thought was lacking on the web. This was a rewarding project because we were also able to get feedback from patients and we found it had really helped them understand more about their condition! This ignited a passion for me to learn more about rare diseases!

Ask me about anything to do with Ophthalmology – as a patient myself due to being born with a cyst which has led to me having an early cataract – I’ve spent a lot of time in Ophthalmology clinics – both as a patient and as a buddying future Ophthalmologist!

AMBASSADOR 2024/2025

Roshan De Silva

Hey, I am Roshan De Silva. I am a third-year medical student at Barts and the London School of Medicine and Dentistry. My interests are in trauma/emergency medicine and vascular surgery in terms of specialties, but rare diseases are also a keen topic for me.

I’m an M4RD Ambassador because I have a keen interest in Rare diseases, and I believe more people should know about them. From being a student partner at Global Genes in America I found my passion for rare diseases and how intricate and separate they are in medicine despite how ingrained they should be. Inspired by these experiences, I am working on starting a Rare disease society at Barts and the London.
Ask me about trauma in medicine and I’ll be able to provide you with many cases. Outside of medicine, ask me anything about tennis or cricket – my two favourite sports!

AMBASSADOR 2024/2025

Ethan Chong

I’m a second-year medical student at Corpus Christi College, University of Oxford. I became interested in rare diseases due to an online course during sixth form looking at clinical trials which mentioned the small populations of individuals affected by rare diseases. Through medical school, I realised that rare diseases are often used to exemplify the impact of single-gene mutations, but usually without any clinical context. I hope as an ambassador I can create greater awareness of rare diseases amongst my cohort and future health professionals by creating links between our studies and opportunities to learn about the reality of living with rare diseases.

AMBASSADOR 2024/2025

Ayesha Nasir

Hi, I’m Ayesha! I’m from Manchester and in my third year of studying medicine at the University of Oxford. I’m an M4RD ambassador because I would like to be part of educating others on rare diseases and the importance of recognising rare diseases in healthcare. Ask me about ways to get involved; I love discussions on research and how we can make a difference!

AMBASSADOR 2024/2025

Princess Bello

I’m a second-year medical student at the University of Liverpool with a BSc in Biomedical Science. My passion for rare diseases was ignited during my undergraduate studies in genetics, but it became truly personal when I became a patient advocate for a close friend with Sickle Cell Anaemia. This opened my eyes to the significant challenges faced by those with rare diseases, inspiring me to advocate for better patient care and increased awareness within the medical field.

Working as a Medical Education Coordinator in the NHS further deepened my interest in improving the education of future doctors. I aim to highlight the importance of patient-centered care, especially for those with rare diseases, a group often overlooked in medical training. As an M4RD Ambassador, I’m eager to channel these experiences to educate my peers, raise awareness, and actively contribute to building a more inclusive healthcare system.

Ask me about patient advocacy and how my personal and professional experiences with Sickle Cell Anaemia and medical education have shaped my approach to medicine. In my free time, I enjoy travelling, listening to music and going to the gym

AMBASSADOR 2024/2025

Chloe Lewis

I am a 2nd year Graduate Entry Medicine Student at Swansea University. I previously undertook a BSc in Psychology at Cardiff University. My interest in rare diseases stemmed from a personal history of prolonged diagnosis time and confusion over past medical history, which at times led to isolation and frustration, but also to curiosity.

I am a M4RD Ambassador because I hope to advocate for the rare diseases community through this programme, and to help raise awareness for lesser known diseases. I hope this helps to speed up the diagnosis time of patients with rare diseases, as well as provides them with a supportive medical community to discuss their questions with. My educational background has led to a personal interest in the psychological impact of medical diagnoses on patients, please feel free to ask me more about this!

AMBASSADOR 2024/2025

Oscar Lane

My name is Oscar, and I am a second year medical student at Swansea University. I also completed a BSc (Hons) from Keele University in Biomedical Sciences, where I wrote my dissertation on the Ehlers-Danlos Syndromes. Both myself and members of my family are affected by EDS alongside other rare conditions, which allowed me to understand the unique perspectives of a patient, family member and healthcare professional in relation to rare disease. I have a particular interest in hereditary connective tissue diseases and rheumatological conditions. I became a M4RD ambassador to encourage other zebras who would like to become doctors, but also to promote holistic care and understanding of rare disease amongst my peers and fellow healthcare professionals to ensure the best outcomes for patients.

Outside of studying medicine, I can often be found playing instruments, going to metal gigs, and walking along the coast!

AMBASSADOR 2024/2025

Asia Minczuk

I’m a fourth year medical student at the University of Edinburgh. I developed an interest in rare disease following a research project that identified a lack of awareness of rare diseases and newborn screening amongst medical students and completing my dissertation on a rare disease. I’m an M4RD Ambassador because I’m passionate about identifying how we can improve awareness of rare diseases amongst future healthcare professionals. Ask me about anything to do with promoting rare disease teaching in medical school!

Patient Ambassador 2023/2024

Rebecca Giddings

Rebecca was initially diagnosed with Prinzmetals angina in 2014 after ending up in hospital at 33 with heart issues. From there things snowballed and 2 years later she was diagnosed with Ehlers Danlos Syndrome (hypermobility with vascular crossover), Gastroparesis, Mast Cell Activation Disorder and Autonomic Dysfunction. 

“Living with a condition that effects every part of your body is difficult to juggle but over the last 8 I have learnt how to best manage it for me, I live with a feeding tube, IV port and urostomy and to date have had 45 operations. I feel I have become the expert on my own condition and body out of necessity” 

Having accepted ill health retirement from her career in banking she continued to pursue her PhD in Banking Ethics, graduating in 2022. Unable to sit still, Rebecca has learnt to fly and is a Trustee of the charity Flying Scholarships for Disabled People. In her spare time she enjoys riding her adapted motorcycle, playing the flute, embroidery, crochet and has 2 miniature dachshunds. 

Rebecca is passionate about disability representation in media and is keen to play a role in ending gender bias in diagnosis.

Clinical Ambassador 2023/2024

Dr. Layan Allawi

Dr. Layan Allawi is a haematology registrar at Watford General Hospital. She completed her Darzi fellowship this year in Sickle Cell disease at London North West University Healthcare (LNWH) NHS Trust.  During her fellowship, she focused on collaborative efforts to improve patient experience. This resulted in the establishment of the LNWH Sickle Cell Patient Group with the intention of creating the conditions for co-production. By the end of the fellowship they co-created a patient reported experience measure and co-produced a Sickle Cell simulation programme, featuring patient actors. The programme was developed into a short film to share the approach across networks and to narrate the experience of patients and relatives.

Patient Ambassador 2023/2024

Beth Meek

Beth has been a GP for 20 years and has also worked in End of Life Care at hospices and more recently as a Clinical lead for her local CCG. She is a trainer for GPs, medical students and paramedics.

After being diagnosed with bilateral carotid artery dissections, causing TIAs, in 2015 she became more aware of the limits to medical training. Having been taught, and kept to, the statement that “common things are common” as a way of looking for a likely diagnosis this lead to delays in asking for help when she developed unusual symptoms and to a diagnosis when she did.

This was confirmed further when Beth had a heart attack caused by SCAD (spontaneous Coronary artery dissections) in 2022. She has been left with chronic angina and numerous appointments with specialists trying to establish if she has an underlying cause (such as a connective tissue disorder). She has been unable to return to work so is hoping to use her experience as a patient and a doctor to help with the work of M4RD.

Medical Student Ambassador 2023/2024

Mia Clissold

I’m a first year medical student at the University of Exeter. I developed an interest in rare diseases a couple of years ago when trying to get a diagnosis for my own rare disease. In November 2022, I finally got diagnosed with Hypermobile Ehlers-Danlos Syndrome after a tricky road. I post a lot of rare diseases awareness on my social media to teach my fellow medical students more about it in hopes that young people in the future won’t have to wait so long to have a correct diagnosis. Outside of medical school, I volunteer with St John Ambulance as a first aider and a children and young people’s manager in Cardiff. I enjoy watching sport, especially Rugby, and surfing down in Cornwall at the weekends with the university surf club.

Clinical Ambassador 2023/2024

Zoe Morrisson

My name is Zoe Morrison and I currently work within the Children’s Hospital for Wales as a SWAN (Syndrome Without a Name) Clinical Nurse Specialist for Paediatrics. My role involves acting as a care coordinator for children and their families across Wales, who have been referred to our SWAN Clinic, as well as supporting the holistic needs of the patient and their family. I have previously worked for a number of years as a Paediatric Research Nurse Specialist within Wales’ only dedicated Children’s research facility, CYARU (Children and Young Adults’ Research Unit). I have experience in the co-ordination and delivery of clinical trials, and also have a keen interest in developing empirical research, especially within the nursing and AHP communities. In 2021 I graduated from Cardiff University with a MSc and am looking towards pursuing a PhD in the coming years.

Clinical Ambassador 2023/2024

Dr Thiloka Ratnaike

Dr Thiloka Ratnaike qualified with a MBBS PhD (2013) from Newcastle University and is currently working as an Academic Clinical Lecturer in Paediatrics for the University of Cambridge. She works in a busy district general hospital as a Paediatric registrar while balancing life as an academic. Thiloka is committed to her academic goal of streamlining the diagnostic process for patients with mitochondrial diseases globally, under the guidance of Professor Patrick Chinnery and Professor Rita Horvath. She is also working, under the guidance of Professor David Rowitch, on a new project that aims to understand the possible genetic causes underlying cerebral palsy. Thiloka currently co-chairs the Child Health East of England Research/qi Initiative (CHEERI) which is a trainee-led research network aimed at improving access to research opportunities within the region. She is also a member of the Royal College of Paediatrics and Child Health Trainee Research Network which allows her to discuss key priorities, centrally, around improving Child Health research.

Clinical Ambassador 2023/2024

John Bassett

I am currently a Chemical Pathology / Metabolic Medicine Registrar in North West England, having previously had experience in internal medicine, endocrinology, paediatrics and clinical genetics. I have always had a strong academic interest in rare diseases and have several publications related to rare disease including work on an evaluation of a gene panel for the diagnosis of inherited metabolic diseases in children. I am currently working towards my FRCPath and a PgCert in medical education.

I was also diagnosed with phenylketonuria at newborn screening which is still managed by the adult metabolic team. Having a metabolic condition has spurred my lifelong passion for rare diseases and biochemistry. I have benefitted enormously from the knowledge and expertise of the rare disease clinicians and healthcare staff who have treated me over the years, which has allowed me to be able to achieve things that would have not been possible without their help and support. This has driven me to try and give other patients with rare diseases the same opportunities and benefits I had, and key to this is clinician education and awareness of rare disease. Being both a patient and a clinician treating rare diseases has given me a unique insight into the challenges patients face, and being a M4RD ambassador allows me to be able to advocate for rare diseases from both perspectives.

In my spare time I enjoy spending time with my wife, Gill and my one year old son, Noah, as well as playing “music” (in the loosest sense of the word) on bass and guitar and losing at pub quizzes.

Clinical Ambassador 2023/2024

Dr James Ainsworth

I am currently a CT3 anaesthetic trainee working in South Wales, with an interest in intensive care and medical education. I was made aware of the charity M4RD and the clinical ambassador role whilst exploring an opportunity with a project lead by Cardiff University, aiming to explore knowledge and perceptions of rare diseases amongst medical students and how training in rare diseases might be improved in medical school. Together with my personal experiences of the challenges faced by those living with a rare disease, and a personal feeling of needing to gain more experience in approaching rare diseases as a clinician, I gained an enthusiasm to apply for the role. My hope and aims whilst being in the role would be to use my experience in medical education to help spread interest and awareness of rare diseases amongst medical students and trainees, beyond just the medical conditions but for an appreciation of the challenges faced by patients both in reaching diagnosis and receiving appropriate treatment and support, and in living with rare or less well known conditions.

Clinical Ambassador 2023/2024

Gemma Hasnaoui

I am a GPST3 working in Dorset with a special interest in rare diseases which started following my own diagnosis of Vascular Ehlers Danlos Syndrome (vEDS) in 2016, shortly after graduating university. vEDS is a rare potentially life limiting disease due to fragile tissues and vessels. I have tried to see this life changing diagnosis as a positive; I am an active member of the leading charity for vEDS in the UK, Annabelle’s Challenge, working as a patient support group co-ordinator for the South West, as well as sitting on the steering group committee and being involved in various projects including improving emergency care. When I came across M4RD I knew I had to apply for an ambassador role as it really does encompass everything that I stand for as a doctor and a patient with a rare disease. I can’t wait to be a part of improving education for rare diseases, whilst learning more about them myself along the way. In my spare time I enjoy dog walks, barre classes and cooking for friends and family!

Clinical Ambassador 2023/2024

Dr Aung Min Saw

M.B.B.S (Ygn), MRCP(UK), Clinical Fellow in Adult Rare Diseases/ Research Fellow in Neurology, Syndrome Without A Name (SWAN) clinic/ Neuroscience Research Unit (NRU), Cardiff and Vale University Health Board

Qualified in 2012 from University of Medicine 2, Yangon, Myanmar and practiced as an (emergency) medical officer in a private hospital for 3 years until 2015 and worked as Centre-In charge for an international charity in 2016. Migrated to Jamaica in 2017 and practised there as senior house officer until 2018 and had their first NHS job in October, 2018 as senior house officer/clinical teaching fellow in North and East Hertfordshire NHS Trust.

They are a keen educator and invested in teaching since the start of career. Worked as clinical teaching fellow as first NHS job: teaching medical students from University College London and Cambridge University.

They love travelling and meeting new people and are interested in anything aesthetic – interior decoration, indoor terrarium and arts. Bucket list for hobby includes flying, aquascape and piano lessons. Former competitive athlete in Wushu/ a type of Chinese Martial Art (2011)

Clinical Ambassador 2023/2024

Adriana PerezGrovas S

Adriana PerezGrovas S, MD, is a Medical Geneticists currently completing her Ph.D. in medical genetics at the Brain Genomics lab in the University of Nottingham. Qualified in her native country, Mexico, she received her degree as a medical doctor and subsequently completed 3-years of specialist training as a medical genetics. As a clinician, she saw, studied, and counselled patients of all ages with diverse genetic and rare diseases. She undertook a thesis project studying Huntington’s Disease, which marked the beginning of her journey to pursue a PhD in neurogenetic diseases. During her PhD she has participated in the global event “Rare Disease Day”, by creating two events which are part of the “Light up for rare” awareness campaign. For two consecutive years she has organized the building illumination of two local landmarks of Nottingham, the Trent Building at UoN and the iconic City Hall.  

As a medical geneticist, I have witness the long and exhausting journey that some patients and their families have gone through in search for a correct diagnosis of a rare disease, therefor I am conscious that increasing their awareness is one of the main keys in addressing this challenge. Recently, my husband was diagnosed with Behcet’s disease, if he hadn’t had someone close by to think about a rare diagnostic, his journey for a correct diagnosis would have been prolonged, and with it, the effects of the disease. So, I hope to be able to retribute to the society the benefits that I have received in my career, prioritizing the correct diagnosis and counselling of those individuals with genetic diseases. At present, as I complete my PhD in the UK, I am unable to engage with patients as a medical geneticist. Nevertheless, my intention remains strong to support the rare disease community, which I can do so by increasing awareness and providing education to fellow members of the medical community.

Patient Ambassador 2023/2024

Pam Slater

I’m a Parent Advocate of a child with FOXP2 syndrome, a rare genetic disease/condition which was ‘de-novo’ in our family.  I’m keen to raise awareness of this condition, so that other families get a diagnosis and treatment earlier.  I would also love to see genetic Speech and Language conditions represented in the UK Rare Disease Framework.

For us, the main challenge of this condition is Childhood Apraxia of Speech, (previously known as Developmental Verbal Dyspraxia in the UK) a neurological speech disorder which affect the messages from the brain to the mouth, which requires intensive, specialist, speech and language therapy, over many years, for the child or young person’s speech to become intelligible. Mobility issues associated with this conditioner were overcome with intensive physiotherapy and OT in early years.

I’m delighted to have worked with The RCSLT and The Dyspraxia Foundation to promote DVD in May 2022, leading up to Verbal Dyspraxia Awareness Day on 14 May, with #14daysofDVD campaign on Twitter and Medics4RD Mystery Monday.

This Twitter campaign was shared on Facebook VerbalDyspraxia:14daysofdvd with parent Georgia Wilson and we also run a FB group Verbal Dyspraxia Warriors.

It was a great experience to do a Podcast with M4RD on our experience with FOXP2 with Melissa in 2023.

I’m also proud our family has been involved in research into FOXP2 with The Murdoch Institute, Australia and University College London, and to have continuing involvement with research into this little known condition.

I’m really looking forward to working with M4RD and peers as a patient ambassador.

#Daretothinkrare

Patient Ambassador 2023/2024

Katie Dexter

Katie Dexter was diagnosed with Primary Ciliary Dyskinesia (PCD) in her late teens after many years of misdiagnosis. PCD is a rare genetic disease caused by abnormal motile cilia (hair-like structures in the body) resulting in multi-system issues affecting the lungs, sinuses, ears, and fertility. PCD can also cause situs inversus and/or dextrocardia.   

Katie has been active in the PCD Support UK charity for many years, and recently has taken on the role of Chair. Katie is incredibly passionate about spreading awareness of PCD so that patients can be diagnosed early and have access to the specialist care they need. 

Katie graduated from the University of Leicester with a PhD in Physics in 2018, and works in the Biomedical Imaging Unit at the University of Southampton. Here, she works on world-leading research through her expertise in preclinical micro-CT and optical imaging. 

In her free time, Katie enjoys crochet, running, and board games.

Patient Ambassador 2023/2024

Hope Russell-Winter

Hope was diagnosed with Multiple Endocrine Neoplasia Type 1 at 13. Managing a prolactinoma (pituitary gland tumour), which throughout puberty caused secondary Addison’s. Hope continues to manage MEN1 whilst pursuing an active career in the music industry. In her free time, she enjoys working on her music and walking through her local Greenwich Park.

Patient Ambassador 2023/2024

Emily Livesey

Emily trained as a musician and completed a BMus at the University of Birmingham followed by a Postgraduate Diploma in Performance at Trinity College of Music, London. About a year after completing her studies, Emily became very unwell and had to move home to live with family. She spent the next seven years unable to work and searching for a diagnosis. It was eventually discovered that she had an inherited metabolic disorder, Methylmalonic Acidemia (CblA type) which unusually didn’t present until adulthood.

Once diagnosed and treated, Emily’s health improved to the point where she could work full time, live independently, and start a family. She now works for the Royal National Lifeboat Institution as a Data Governance Analyst.

Emily is passionate about the fact that no one should have to go through such a long journey to diagnosis and is keen to improve the experience of patients with rare diseases in any way that she can. She is a member of the Metabolic Support UK Advisory Council and recently took part in a research study run by the charity.

Patient Ambassador - 2023/2024

Daval Amratlal

Daval has a disease called autosomal recessive epidermolysis bullosa simplex, a rare skin condition where blistering is caused by trauma to the skin.

Graduating in 2021 with a BSc in Physics with Space Science Daval will start an MSc in Planetary Science in September 2023 at UCL. With a passion for science communication – making science more accessible to the general public – Daval has joined M4RD as an ambassador to raise awareness of EB not just in the medical field but also in the general public, alongside the EB charity DEBRA; in an effort to improve the quality of life not just for EB patients but also other people with rare diseases.

In his spare time Daval reads science fiction novels and is an avid motorsports fan.

medical Student Ambassador 2023/2024

Rachel Bolwell

My name is Rachel and I am a final year medical student from the University of Glasgow. I completed the first half of my degree at the University of St Andrews and I am currently enrolled in the 2023/24 cohort of The Healthcare Leadership Academy where I am working on a project that will aim to support disabled doctors in the workplace.

Shortly before I started University back in 2016 I was diagnosed with a rare, chronic condition called Addison’s disease. This has given me a unique insight into the complexities of being both a patient and healthcare professional with a rare disease. My journey to reaching a diagnosis was long and tortuous. Like many I have had countless experiences with misdiagnoses, gaslighting and ableism. I also have firsthand experience of how medical school curriculums are designed in a way that actively discourages doctors from considering rare diagnoses.

My diagnosis has sparked in me a desire to spread awareness and advocate for those with rare and chronic illnesses, so I decided to start a blog called ‘The Friendly Shark’ where I can do just that as well as share how I have used open water swimming as a form of rehabilitation.

In my free time you can mostly find me in some form of cold water or curled up with my lovely dog Fee.

Medical Student Ambassador 2023/2024

Linda Shi

Linda is starting her 1st year as a graduate-entry medical student at the University of Oxford. Prior to this, she completed an MSc in Clinical Neuroscience, before training and working as a Clinical Scientist in the visual electrophysiology service at Great Ormond Street Hospital for Children. It was there that she had the privilege of meeting young patients and families living with rare and complex health needs, as well as being involved in clinical research projects in inherited retinal disease and neurometabolic conditions. Having seen first-hand the challenges many young families can face on their diagnostic odysseys, she is keen to be involved with M4RD to promote the importance of being ‘rare-aware’ among her new medical student peers. 

Throughout her studies and training, she has been an enthusiastic ambassador for Widening Participation and peer-support projects, having also headed up the London Healthcare Science Trainee Network. In her free time she loves to run, dance and bake things.

Medical Student Ambassador 2023/2024

Jenny Yang

Jenny is a 4th year medical student at the University of Cambridge, having just completed her intercalated year in Genetics. Her interest in the genetic causes of rare diseases prompted her to attend RAREfest; hearing stories of patients’ lived experiences, and  learning of the harm that could be caused from clinicians not thinking about zebras when hearing hooves has motivated her to set up a new student society to raise awareness for rare diseases. In her free time, Jenny enjoys playing badminton and listening to musicals

Medical Student Ambassador 2023/2024

Jack Murphy

Jack is a first-year graduate medical student at the University of Cambridge at St. Edmund’s College. He was first exposed to the impact of neurological rare diseases while studying his Neuroscience bachelor’s and consequently worked for a year as a personal carer for an adolescent with an undiagnosed rare disease resembling Lennox-Gastaut syndrome. Following this, he worked for half a year in health policy communications, specialising in rare diseases and health inequalities. These transformative experiences imparted Jack with a desire to explore solutions to the challenges faced by the rare disease community in the UK while commencing his medical studies.

Medical Student Ambassador 2023/2024

Himani Sehgal

Himani, a first-year medical student at the University of Liverpool, holds a BSc in Psychology and Criminology from Keele University. Her interest in rare diseases was ignited during an internship with ARDEnt (Action for Rare Disease Empowerment), where she explored the impact of COVID-19 on the rare disease community and care coordination. This experience deepened her understanding of the unique challenges faced by individuals with rare diseases. She then interned with DDX3X Support UK, where she created a medical information pack for families and clinicians. Inspired by these experiences, she aims to raise awareness amongst her fellow medical students and foster a sense of empathy and responsibility among future doctors towards patients with rare diseases. As an M4RD ambassador, she’s dedicated to driving positive change in healthcare. In her free time, she enjoys travelling, unwinding with books, and crocheting.

MEDICAL STUDENT AMBASSADOR 2023/24

Harshini Hariram

Harshini is currently a 4th year medical student at the University of Manchester with a particular interest in genetics. She has worked on improving her understanding of the clinical genetics speciality by gaining hands-on experience, having recently completed a one month placement at the Manchester Centre for Genomic Medicine. Through this opportunity she got a taste of the various genetic subspecialities, including paediatric developmental disorders where she met lots of zebras and their families. As a M4RD Student Ambassador, Harshini is keen to interact with more patients and their families who are impact by a rare disease and learn more about their personal experiences to improve herself as a future clinician. At the same time, she looks forward to using this platform to raise awareness of rare diseases and encourage her peers and future healthcare professionals to ‘think rare!’. In her free time she enjoys spending time with her friends in the great outdoors and swimming. 

Dr Alexandra Downes

Dr Alexandra Downes is a Paediatric Registrar in South London with an interest in Neonatology and Genetics. Alexandra studied Human Genetics at UCL before Graduate Entry Medicine at Bart’s and the London, where she became involved with Bart’s and The London Rare Diseases Society and subsequently M4RD. Her aim as Clinical Ambassador for M4RD is to spread the charity’s message and improve Rare Diseases education amongst London Paediatric trainees.

Patient Ambassador (2022/23)

Zainab Alanı

Zainab is a second year medical student studying at the University of Glasgow who also battles an incurable rare autoimmune condition, generalised Myasthenia Gravis (MG), which causes extreme muscle weakness and fatigue.

She was diagnosed at age 15 and her difficult MG journey – from major surgery to daily medication – reinforced her desire to become a doctor. After winning the 2021 Student Voice Prize, Zainab chose to speak more publicly about her experience in order to raise awareness about rare diseases.

Furthermore, alongside other medical students at the university of Glasgow, Zainab founded a new rare disease society called RAREAware Glasgow which aims to raise awareness for all rare diseases and their far-reaching impacts.

In her free time, Zainab enjoys arts and crafts, such as drawing and crochet, and watching Formula 1.

Medical Student Ambassador (2022/23)

Amy Steele

Amy is currently a second year medical student at The University of Manchester. Prior to this she completed a BSc in Bioscience, specialising in molecular biology and genetics, at Durham University, which sparked her interest in genetic diseases. Amy recently carried out a placement working in the rare disease department at a pharmaceutical company, which led her to join M4RD as an ambassador, as she has seen the impact that rare diseases, and diagnostic uncertainty, have on patients’ lives. Amy has also founded a medical genetics society at her university, which she hopes will encourage medical students to think about the genetic causes of diseases, which is also especially important in rare diseases, as many have genetic origins. In her spare time Amy enjoys playing hockey and going to watch football.

Medical Student Ambassador (2022/23)

Madeline Pearson

Madeline is a medical student at the University of Dundee and is currently undertaking a BMSc in genetics, cancer and personalised medicine. Madeline is particularly interested in paediatrics and has been lucky enough to spend time in both their rheumatology and neurology departments, where she met a lot of zebras! Madeline is keen to help greater the knowledge of rare disease amongst medical students, in the hope that the future generation of doctors will be more ‘rare aware’!
In her free time she is a keen hiker, and also enjoys Scottish country dancing.

Patient Ambassador (2022/2023)

Corrinne Hepworth

Corrinne was diagnosed with Addison’s disease (a rare and life-threatening form of adrenal insufficiency) when she was a teenager. Following her own challenges of living with this illness and receiving care, Corrinne chose to write a blog for Rare Disease Day 2021. She continues to raise awareness and support others living with Addison’s disease.

Corrinne has a degree in Psychology and a keen interest in understanding the mind – body connection. In her free time, she loves to go to gigs and festivals.

“Living with a rare disease is challenging but not as hard as the battle to be seen, heard and believed. Over the last year I’ve built a What’s App community of young adults living with Addison’s disease and know I’m not alone in the difficulties I’ve faced.
I applied to be a patient ambassador because I want to prevent harm, save lives and channel my experiences into something positive. I’m excited to be part of this inspiring movement which is changing things for the better.”

Patient Ambassador (2022/23)

Rhoda Walker

With a background in community development, I have worked in local government, the health service and the voluntary sector for the last 30 years.

I have also volunteered for the last six years with the Northern Ireland Rare Disease Partnership, spending three of those years in the Chair role. I was heavily involved in the development of the Northern Ireland Rare Disease Action Plan which was launched in Mar 2022.

I live with hypermobile Ehlers Danlos Syndrome, and although my son was diagnosed before me it still took a number of years before I/my medical professionals connected the dots and realised that I also had the condition. Even when you know, sometimes you can’t see what’s right in front of your face. Developing our reach, improving awareness through education and training is therefore key in ensuring the development of equitable services for all those in the “rare” community. To this end I have been delivering information sessions and supporting training initiatives for the past four years.

I am delighted to be coming on board as an ambassador for Medics 4 Rare Disease.

Clinical Ambassador (2022/23)

Dr Grace Knight

Grace studied medicine at Keele University and is about to become an F1 in Coventry. Her passion for improving rare disease education was sparked by her younger brothers’ rare diagnosis back in 2020 and she now loves talking and teaching about rare disease. Grace also has a special interest in Emergency Medicine and took a year out of her degree to study this specifically.

Outside of medicine Grace loves walking, water sports and playing board games!

Clinical Ambassador (2022/23)

Dr Lauren Ferretti

Lauren is a paediatric registrar in London with a life-long commitment to charity fundraising and an interest in genetics and whole genome sequencing. She was inspired to contact M4RD after attending their webinar with the Royal Society of Medicine – ‘The unusual suspects: Rare disease in everyday medicine’ – which spoke to her experience with rare diseases, stemming from studying for a Master’s in Genomics with Imperial College London and working for a year at Great Ormond Street Hospital where she recruited families to the 100,000 Genomes Project. Her professional and personal experience of rare diseases met at a crossroad when her close friend’s daughter was diagnosed with Canavan’s Disease, a rare genetic metabolic condition which affects her brain and for which there is currently no treatment. Through working with M4RD she hopes to raise awareness amongst her colleagues and medical students of the importance of considering rare diseases with every clinical encounter.

“Over a third of deaths in under one-year-olds can be attributed to a rare disease, making them the second most common cause of death in this age group in the UK behind prematurity. Prematurity, stillbirth and rare childhood diseases hold significance in both my professional life as a paediatrician, and my personal life as a friend and family member, making this a very important cause for me. This has motivated me over the years to raise over £10,000 for various rare disease charities and hospices, by means of putting my very mediocre athleticism to the test!”.

Clinical Ambassador (2022/23)

Dr Kimberley Steele

Kimberley Steele, MD, PhD completed surgical residency at Hershey, Penn State School of Medicine and a Minimally Invasive and Bariatric Surgical Fellowship at Johns Hopkins University School of Medicine. Promoted to rank of Associate Professor and contributing to all facets of academia, she directed the adolescent bariatric surgical program, the bariatric, obesity and metabolic research and surgical simulation and education programs. Dr. Steele is a wife and mom to two incredibly cute boys, Michael age 13, Matthew 12. At age 6, after a 14-month diagnostic odyssey, Michael was diagnosed with Kaposiform Lymphangiomatosis (KLA), an ultra-rare, life-threatening vascular anomaly, with no cure. Having navigated the healthcare system as a rare disease mom through the eyes of a physician, Kimberley took a career path detour and has devoted her collective academic skill set to the rare disease community. One initiative that she is very passionate about is that of engaging early career scientists and clinicians into the field of rare disease. Volunteering as an advisor to undergraduate and graduate students, residents and fellows, nursing and medical students, she has been instrumental in encouraging the creation of student Rare Disease Interest Groups (RareDIGs) across North America. Further, identifying an unmet need in the vascular anomaly’s community, Dr. Steele recently founded Collaborative Research Advocacy for Vascular Anomalies Network (CaRAVAN – Communities together on a journey to cures), a research-based umbrella organization devoted to accelerating research discovery to improve therapies and find cures for people living with vascular anomalies through relentless collaboration by pooling efforts, synergies, studies and data.

Patient Ambassador (2022/23)

Aisha Seedat

Aisha Seedat was diagnosed with Morquio Syndrome Type A in 1998 at 6 months old.

Aisha has been actively involved with the Society for Mucopolysacchride diseases and is a young ambassador. She actively fundraises for them and raises awareness of her condition through her public speaking.

Aisha graduated from De Montfort University, Leicester where she completed a B.A hon in Health Studies.

She now works at De Montfort University as a Guest Speaker, teaching students about her life experiences on Mental health and the effects it has on someone with a rare condition.

Clinical Ambassador (2022/23)

Agata Oliwa

Agata Oliwa finished her medical degree at University of Glasgow in 2022 and is due to start her Academic Foundation Programme this summer with the Newcastle Upon Tyne NHS Foundation Trust. She aspires to become a clinical geneticist and is passionate about tackling the disparities that patients living with rare disease face when accessing healthcare.

She has been involved in raising awareness about rare diseases through running social media campaigns, writing rare disease policy for a national student charity and getting involved in local rare disease events. Recently, together with some other students with a passion for rare diseases, she also endeavoured to set up a Rare Disease society – RAREAware Glasgow. As an academic medicine enthusiast, she worked on a few projects on rare genetic neuromuscular disorders during medical school and hopes to continue doing so during her Foundation training. She is excited to combine her academic interest with passion for rare diseases by being involved in the RISE research project.

Medical Student Ambassador (2022/23)

Leah Brooksbank

Leah Brooksbank is currently a 4th year Graduate-Entry Medical Student at St. George’s, University of London.

Prior to this, she completed a BSc in Biochemistry and Genetics and an MSc in Genomic Medicine at The University of Sheffield. Her MSc research project used the 100,000 Genomes Project data for patients with osteogenesis imperfecta, a rare genetic bone disease, to try to identify new causative genetic changes. After this, she worked in Clinical Research at Sheffield Children’s Hospital where she had the privilege of working with young patients with rare diseases and their families. These experiences are what led her to find out about M4RD and become involved further with the work that they do.

In addition to this, Leah is currently a Student Ambassador at St. George’s, where she works on several widening participation programmes, and she has previously worked as a mentor to students at The University of Sheffield.

“I am honoured to be an M4RD Medical Student Ambassador – the rare disease patients that I have met throughout my career so far have been incredibly inspiring and I hope to be able to advocate for them more both as a student, and in my future medical career. I look forward to promoting the work of M4RD and a greater awareness of rare diseases to my peers.”

Clinical Ambassador (2022/23)

Lottie Mercer

Lottie is a foundation doctor working in Dorset. She studied Medicine at The University of Southampton, and obtained an intercalated degree in Biomedical Engineering from Imperial College. Taking part in The Student Voice Prize as a medical student made her more aware of the diagnostic odyssey faced by people living with rare diseases. Determined to help tackle this by encouraging other clinicians and medical students to ’think rare’ in their clinical practice, she joined M4RD as an ambassador. During her medical school elective, Lottie completed a placement with M4RD and spent some time in the clinical genetics department at Great Ormond Street Hospital, where she encountered lots of young people living with rare diseases. In her free time, she loves being outdoors and particularly enjoys rock climbing and watersports.

Clinical Ambassador

Clin Prof Gareth Baynam

Gareth Baynam is the Head of the Western Australian Register of Developmental Anomalies (birth defects and cerebral palsy registers), Clinical Geneticist and Program Director of the Undiagnosed Diseases Program, Western Australia. He is affiliated with the University of Western Australia; Curtin University, Murdoch University, Notre Dame University, Melbourne University; and Telethon Kids Institute.

He is the Founder of an integrated suite of cross-sector and community engaging initiatives to improve the lives of people living with rare diseases including Project Y, Cliniface and Lyfe Languages. He Chairs and/or is one the Executive or Advisories of multiple international rare diseases initiatives.

Gareth has personal connections to rare diseases and is passionate about mentoring and education at all ages, stages and places. He is a basketball tragic and a hockey never has been.

Clinical Ambassador

Dr Gisela Wilcox

Dr Gisela Wilcox is an Honorary Reader (Division of Diabetes, Endocrinology & Gastroenterology) at the University of Manchester and also a Consultant in Medical Biochemistry & Metabolic Medicine (North Wales Lead) at the University Hospital of Wales.

Gisela has had an extensive clinical training in metabolic medicine that has encompassed a range of clinical specialties and training programmes. She has significant research experience, an education of medical and other health professionals at both undergraduate and post-graduate levels, focus group work, advocacy, as well as community education and development of educational meetings for core medical trainees in Australia and the UK.

During her time as Director of Clinical Training for prevocational doctors, she had the opportunity to influence knowledge incorporating into the curriculum areas of unmet need, specifically clinical nutrition and metabolism and psychological needs in the face of demoralisation from medical illness.

Gisela has also spoken on behalf of the NSPKU at Westminster on International PKU day during 2017. Since returning to the UK in 2013 she has enjoyed teaching medical students at the bedside, in clinical debrief sessions, as an academic advisor, as well as supervising students at MRes and SSCP levels attached to metabolic medicine.

“I am passionate about making a difference to the patient and family experience in rare diseases by enhancing awareness amongst the general medical community.

Greater involvement in rare disease research has potential to bring further insights to the development of new therapies and enhance care in general for this patient population.

Being a M4RD Ambassador would be an exciting opportunity to achieve a lasting attitudinal change in the medical profession, ultimately bettering the rare disease experience across the country.”

– Dr Gisela Wilcox