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M4RD Ambassadors

The future of medicine. Working with M4RD.

Our ambassador programme enables M4RD to work with the wider rare disease community so we can learn from their expertise and experience.

We have three types of Ambassadors: Clinical, Medical Student and Patient. Clinical and Medical Student Ambassadors help inform our projects, identify teaching opportunities and spread the word about events and opportunities for medics. Our Patient Ambassadors are really important for making sure that the patient voice is heard through our work.

Communicating the lived experience of having a rare disease is fundamental in our message to medical students and doctors in training.

Our ambassador programme is now CLOSED to new applicants and will re-open  for Cohort 2024/25 in Summer 2024.

Dr James Ainsworth

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.
Himani Sehgal

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.

John Bassett

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.



Lucy Douglas

Clinical Ambassador 2023/2024

Lucy Douglas

Lucy is a Speech and Language Therapist (SLT) who has specialised in the field of learning disability since graduating from the University of Reading in 2016. Currently SLT Lead within an NHS community learning disability health team, Lucy has worked with a large number of people with rare diseases alongside a learning disability. She has often been surprised at how little understanding and knowledge there is of rare disease within multidisciplinary teams, and is hoping to increase both her own knowledge and her teams understanding of rare diseases throughout her time as clinical ambassador for M4RD. Lucy is excited to be one of the first non-medic clinical ambassadors to come on board!

Katie Dexter

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.



Alexandra Adams

Alexandra Adams

Alexandra is a final year medical student at Cardiff University, and is best known as the UK’s first deafblind person training to be a Doctor.  Besides her clinical interests in the fields of genetics, rare diseases, palliative medicine, and critical care, she is also a rare disease patient herself, having received some of her diagnoses whilst an inpatient in hospital for 17 months during the COVID-19 pandemic.  Hence, Alexandra often wears both the student and patient hat, and uses her experiences of being on both sides of the hospital bed to better advocate for patients, and for other medical undergraduates.  As part of her advocacy work, Alexandra is a public speaker and gave a TED talk at TEDxNHS 2019.  She also blogs, through her online social media platforms, and is currently writing a memoir about being a deafblind, disabled medic, and patient.  In her time outside of Medicine and being an M4RD ambassador, Alexandra enjoys yoga, looking after her (multiple!) houseplants, and going on long countryside walks with her therapy dog, Winnie.

Mia Clissold

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.

Dr Thiloka Ratnaike

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.

Beth Meek

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.



Zoe Morrisson

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.

Hope Russell-Winter

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.

Dr. Layan Allawi

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.

Gemma Hasnaoui

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!

Daval Amratlal

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.



Emily Livesey

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.



Jack Murphy

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.

Adriana PerezGrovas S

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.



Dr Aung Min Saw

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)

Rebecca Giddings

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.



Elisha Coen

Medical Student Ambassador 2023/2024

Elisha Coen

Elisha is a second-year medical student at the University of Exeter. She developed an interest in rare diseases during sixth form. Inspired by a social media post she came across, she wrote her EPQ (Extended Project Qualification) exploring Sanfillippo Syndrome and other rare paediatric diseases, and she has sustained this interest into medical school. She is an advocate for rare disease awareness amongst her peers and builds on her own knowledge on rare diseases beyond the boundaries of what is taught in medical school curriculum, for instance by her participation in The Student Voice prize.

Outside her role as a M4RD ambassador, Elisha is the co-president of the Bake Society at The University of Exeter and the Exeter Regional Head for the In2MedSchool charity.



Harshini Hariram

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. 

Pam Slater

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



Linda Shi

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.



Rachel Bolwell

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.



Jenny Yang

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

Dr Alexandra Downes

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.

Dr Lauren Ferretti

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!”.

 

Dr Kimberley Steele

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.

Dr Grace Knight

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!

Agata Oliwa

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.

 

Leah Brooksbank

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.”

Lottie Mercer

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.

Madeline Pearson

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.

Amy Steele

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.

Corrinne Hepworth

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.”

Zainab Alanı

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.

Rhoda Walker

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.

Aisha Seedat

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.

Clin Prof Gareth Baynam

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.

Dr Gisela Wilcox

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