Sara’s sons were diagnosed with adrenoleukodystrophy in 2001.

She is proficient in administration and has a Level 3 NVQ in Leadership & Management. Her passion, as well as professional and personal experience, was instrumental for the development of ALD Life into the lead organisation for ALD and AMN in the UK, and its subsequent expansion to Alex, The Leukodystrophy Charity in 2019.

She leads on projects to deliver best practice treatment and prevention within the NHS and is responsible for partnership development and the overall strategic direction of the organisation.

Click here to read Alex’s story

sara@alextlc.org

Karen’s twin sons were diagnosed with ALD in 2004 and she joined the ALD Life team in 2013. As an ALD mum, Karen brings significant personal ex­perience to supporting beneficiaries, and works with specialists to ensure best practice in treatments & awareness within the NHS. She regularly presents Alex TLC’s work and key messages to professionals and peers and is often requested as a speaker at conferences and events.

Click here to read Karen’s story

karen@alextlc.org

Maria came to the UK from Brazil in 2001. With a background in bookkeep­ing and accountancy, she joined as a volunteer to improve her English in 2007. She became a shop manager in 2010, promoted to Area Manager in 2014, and was promoted to Retail Op­erations Manager in 2017. In July 2018 she took on a new role as Accounts Manager.

maria@alextlc.org

Natasha specialises in identifying high end brands, jewellery and precious met­als. She joined the charity as a volunteer in 2011 and was employed as a shop manager in 2013. She was appointed Retail Training and Performance Man­ager in 2015 and promoted to Area Manager in 2017, responsible for 14 staff. She regularly volunteers at our Community Weekend and runs Alex TLC’s fundraising and awareness stalls at local events.

natasha@alextlc.org

Suzanne joined the charity at the start of 2021. Her background is in mental health, learning disabilities and brain injury. In her previous roles she has provided information and advice to affected individuals and their families. She has experience collaborating with professionals and other organisations, developing connections and working relationships. She is responsible for raising awareness of the work of the charity and the support available to families affected by Leukodystrophies.

suzanne@alextlc.org

Marlene’s first son was diagnosed with a genetic condition called Trisomy 18 (Edward’s Syndrome) during pregnancy. Sadly, he was stillborn at 38 weeks, but his existence touched so many lives and helped drive Marlene towards a career within the third sector.

Her background in office management, credit control, customer service and admin, combined with over 7 years working in fundraising, puts her in a good position to lead on increasing our individual giving, community, corporate and small grant income streams.

marlene@alextlc.org

Fiona’s mum has a type of leukodystrophy called ALSP, and Alex TLC have provided support and guidance to them both, on what was originally a very difficult and confusing journey.

Fiona has worked for 14 years in NHS administration, she also studied Visual Art and Design at university and then volunteered as Artist in Residence at her local children’s hospice (Demelza House), creating activities for the children and their siblings. 

She hopes that she can bring all of her personal experience and skills together in her new role as Fundraising Assistant.

fiona@alextlc.org

Kristina joined the charity in February 2023, she has a Bachelor of Science in Bioscience: Molecular Biodesign and a Master of Medical Science with the main field of study in Forensic Science. She is passionate about the study of genetics and helping others. She is looking forward to applying her experience and knowledge in science and research to further the awareness, knowledge, understanding, and communication within the research field of leukodystrophies and Alex TLC in her role as Research Analyst to help patients and the community.

kristina@alextlc.org

Jenna is our BACP registered Counsellor; she holds a Bachelor of Science in Psychology and Sociology and completed her counselling qualifications with the University of Derby.

Jenna’s experience began 5 years ago at a local hospice, counselling individuals and families with grief and loss. Jenna has experience of supporting individuals following significant life changing events, including grief and loss, life changing and life limiting illness.

Jenna’s approach is client -led, incorporating skills and knowledge to best suit client needs from counselling. Her role is to listen, with empathy and without judgment and to validate the feelings experienced by clients.

jenna@alextlc.org

Mia is an enthusiastic Biomedical Science graduate with a passion for cancer research and clinical immunology. Through her degree, she has honed her laboratory and writing skills. She is thrilled to be working with Alex TLC as a research summary contributor and distilling pertinent information from key research papers and articles. In her spare time, she loves reading books across many genres, taking leisurely strolls in surrounding nature, nurturing a passion for gardening and working on her very own novel. She looks forward to learning more about Alex TLC and connecting with our community through upcoming newsletters.

Jess is a third year biomedical science student at Anglia Ruskin University. She is interested in researching about genetic disorders, such as leukodystrophy, and is very excited to be working alongside Alex TLC to produce monthly research summaries.

After qualifying in medicine at Cambridge and Oxford Universities, and general medical training in London, Dr. Chataway specialised in Neurology over an 8 year period with posts in Edinburgh, Cambridge and London. He was awarded a PhD from Cambridge University in genetic epidemiology of multiple sclerosis (MS) and took up his post as a consultant Neurologist in 2001 at St Mary’s Hospital and The National Hospital for Neurology and Neurosurgery, Queen Square. He is now full time at the National Hospital, Queen Square where he is the MS clinical lead and co-leads the Adult onset Leukodystrophy Group (ALG).

In 2012 he had the honour to be the Chief Neurologist to the Olympic Games in London. He is also neurologist to St Luke’s for the Church of England.

James Davison is a Consultant in Paediatric Metabolic Medicine at Great Ormond Street Hospital where he has a focus on organelle-based metabolic disorders.

He undertook his undergraduate and postgraduate medical

and paediatric training in Birmingham/West Midlands UK. He subsequently completed his doctoral research in functional brain imaging in children with metabolic disorders, developing non-invasive brain chemical profiling techniques using quantitative magnetic resonance spectroscopy.

His clinical work at Great Ormond Street Hospital encompasses a broad range

of inherited metabolic disorders, and he helps lead on clinical pathways for Pompe disease, Mucopolysaccharidoses and Peroxisomal disorders.

He enjoys cycling, playing the piano and pipe organ, and reading European reformation and Middle Eastern history.

Professor Florian Eichler is a Professor of Neurology at Massachusetts General Hospital (MGH) and Harvard Medical School. His career has been dedicated to advancing the care and treatment for devastating neurogenetic conditions. Following neurogenetics training at Johns Hopkins with the late Dr. Hugo Moser and residency in paediatric neurology at MGH, he became the Director of the Leukodystrophy Service that cares for patients with an increasing variety of neurogenetic conditions. Dr. Eichler runs a laboratory at MGH that explores the relationship of mutant genes to specific biochemical defects and their contribution to neurodegeneration. To develop novel treatments, his laboratory assesses the consequences of gain or loss of function due to disease causing genes. In 2009 the laboratory identified two neurotoxic desoxysphingoid bases that accumulate in mutant transgenic mice and humans with HSAN1. For this work Dr. Eichler received the Wolfe Neuropathy Research Prize from the American Neurological Association. This has further led to a first clinical trial of substrate supplementation therapy for patients with HSAN1. In 2015, he became Director of the Centre for Rare Neurological Diseases at MGH. The Centre aims to eradicate rare disorders of the nervous system by leveraging the power of biological insights towards design and implementation of clinical trials. Dr. Eichler is the principal investigator of several NIH-funded studies on neurogenetic disorders as well as a gene therapy trial of adrenoleukodystrophy that recently reported on first successful outcomes in the New England Journal of Medicine. For this work, he received the Martin Research Prize from MGH and the Herbert Pardes Clinical Excellence Award from the Clinical Research Forum. Dr. Eichler also serves as chair of the Rare Disease Think Tank at MGH and is founder and president of the international consortium ALD Connect, a patient powered research network that is dedicated to curing adrenoleukodystrophy.

Dr Stephan Kemp is an Associate Professor at the Amsterdam University Medical Centers (location AMC), University of Amsterdam, the Netherlands. He was trained as a translational researcher at Johns Hopkins University/ Kennedy Krieger Institute, Baltimore, Maryland, USA and obtained his PhD in 1999 at the University of Amsterdam. Dr Kemp has more >20 years of experience with adrenoleukodystrophy research and published >80 papers and book chapters on adrenoleukodystrophy. In 1999, together with Dr. Hugo Moser, he initiated the ALD database (www.x-ald.nl), which moved to www.adrenoleukodystrophy.info in 2017. He is scientific adviser of the Dutch ALD patient organisation and the Stop ALD Foundation, member of the scientific board of the European Leukodystrophy Association (ELA) and a member of the board of directors of ALD Connect. Dr Kemp is the project leader of the SCAN study; the pilot for implementing ALD newborn screening in the Netherlands. In 2015, he received the AMC Societal Impact Award (ASIA). His research focuses on lipid metabolism and neurotoxicity.

Dr Robin Lachmann is one of two consultants at the Charles Dent Metabolic Unit, London, UK, where more than 1,500 adult patients with a wide range of inherited metabolic diseases are treated. After qualifying in 1990, Dr Lachmann continued his training in internal medicine and metabolic medicine. He did his PhD research on herpes simplex virus-mediated gene delivery to the brain and post-doctoral work on glycosphingolipid lysosomal storage disorders.

Ming Lim undertook his undergraduate medical training at the Nottingham University. Following completing his paediatric neurology training in South London, and a period of doctoral research in the neuroscience department of the Institute of Psychiatry (London), he was appointed as Consultant Paediatric Neurologist at the Evelina London Children’s Hospital; and is a Reader in Paediatric Neurology within Faculty of Life Sciences & Medicine, King’s College London. He has a major interest in childhood inflammatory disorders and runs the regional paediatric brain and spine inflammation service. He works   on numerous studies to define childhood central nervous system autoimmune disorders. In addition, he cares for children with a range of neurodegenerative disorders including inherited white matter disorders and has a research interest in the inflammatory mechanisms in neurodegeneration.

Dr John Livingston is a Professor of Paediatric Neurology at the University of Leeds and Consultant Paediatric Neurologist at Leeds Teaching Hospitals. He leads the Inherited White Matter Disorders Multi Disciplinary Team in Leeds and the national paediatric Inherited White Matter Disorders network. He has had a long standing research interest in neurogenetic diseases and in particular Inherited White Matter Disorders and the Aicardi-Goutieres syndrome.

From 2014 -2017 he was President of the British Paediatric Neurology Association.

Dr Ann Moser worked alongside her late husband, Dr. Hugo W. Moser for more than 40 years investigating lipid metabolism in inborn errors of metabolism. In 1976 they developed the plasma total lipid VLCFA test for X-ALD. Following Dr. Barbara Migeon’s work to map the X-ALD gene, they were able to clone the gene for X-ALD, ABCD1, in 1993, and developed the ABCD1 mouse model in 1997. Alongside Augusto Odone, father to Lorenzo of the award-winning film “Lorenzo’s Oil”, and together with Dr William Rizzo, they developed Lorenzo’s Oil.

Today, under the leadership of Dr Ali Fatemi, her research team is exploring new ways to treat neuro-inflammation in X-ALD and other nervous system diseases. This team developed, tested, and validated the test methodology for X-ALD new born screening, key to the addition of X-ALD to new born screening programmes in New York, California, Minnesota, Connecticut, Washington, North Carolina and Florida.

Elaine Murphy has worked as a consultant at the Charles Dent Metabolic Unit, based at the National Hospital for Neurology and Neurosurgery, Queen Square since 2008. The unit manages over 1,400 adult patients with rare inherited disorders of metabolism, including adrenoleukodystrophy/adrenomyeloneuropathy (ALD/AMN). The multidisciplinary team includes nurse specialists, a neuro-psychologist, neuro-physiotherapy, neuro-urology and neuro-gastroenterology. Long term follow up after paediatric bone marrow transplant is arranged with colleagues at University College London Hospital. The unit has a long history of participation in clinical trials of new treatments for rare disorders.

Dr Alasdair Parker trained in paediatric neurology in London and is now a consultant paediatric neurologist at Addenbrooke’s Hospital, Cambridge, where he led the East of England Paediatric Neurology Service 2003-12.

He has launched/led regional video-telemetry, movement disorder, neuromuscular, acute brain injury, ketogenic diet, vagal nerve stimulation and neuro-immunology services. He continues to have a great interest in the epilepsies, tuberous sclerosis, microcephaly, movement disorders and efficient investigation of children presenting with neurological disorders. His main research interests include the identification of genetic disorders in children with neurological disease, microcephaly, and the intractable epilepsies. He holds an associate lectureship at the University of Cambridge, leading in the training of under-graduates, junior and senior doctors within paediatric neurology. He was inaugural Chair of the BPNA education committee and National Training Advisor in Paediatric Neurology 2013-17.

The Queen Square Adult Leukodystrophy Group (QSALG), is a multidisciplinary group that accepts referrals from doctors throughout the UK regarding patients with undiagnosed leukodystrophy / leukoencephalopathy, with the goal of guiding those doctors in arranging appropriate investigations and making a diagnosis.  The team consists of neuroradiologists, neurologists (from cognitive, neuroinflammatory and neurogenetic specialities), and a physician in adult inherited metabolic disease, with support from neurology trainees and administrative staff. A monthly meeting is held to discuss new referrals and view brain scans and other results – with a comprehensive written report sent to each referring doctor.  A bi-annual leukodystrophy outpatient clinic is also held at Queen Square at which patients may be reviewed in person if required.

Dr. Gerald Raymond is a neurologist and clinical geneticist at Johns Hopkins in Baltimore where he is also a professor of paediatrics and neurology. He obtained his MD at the University of Connecticut and was trained in paediatrics at Johns Hopkins Hospital and Neurology at the Mass. General Hospital. He subsequently received additional training in clinical genetics at the Harvard Longwood Program. Dr. Raymond previously has been director of Neurogenetic Research at the Kennedy Krieger Institute and division director of paediatric neurology at the University of Minnesota where he closely collaborated with the metabolic bone marrow transplant group. Dr. Raymond’s research has been at the overlap of genetics and neurology with specific focus on peroxisomal disorders including adrenoleukodystrophy.

Dr David Lynch is a member of the Queen Square Adult Leukodystrophy Group.  He is a Consultant Neurologist at the National Hospital for Neurology & Neurosurgery and the Royal Free in London.  He completed his early medical training in Dublin, before taking up a Leonard Wolfson Clinical Fellowship at the UCL Institute of Neurology.  He completed a PhD on the genetics of leukodystrophy, and has authored numerous papers on clinical and genetic aspects of these conditions in adults.  He continues to be involved in both research and the clinical care of adult patients with leukodystrophy.

Dr Rahul Singh trained in paediatric neurology in London and is now a consultant paediatric neurologist at Guys and St.Thomas’ Hospital, Evelina London Children’s Hospital, London since April 2015. He specialises in Neonatal and Fetal neurology, Neonatal stroke, Encephalitis/Encephalopathy, Neonatal epilepsies, Channelopathy and also Neonatal Neuromuscular diseases as well as fetal brain malformations. He continues to have interest in inflammatory brain disorders, inherited and acquired white matter diseases in children, IIH and paediatric stroke. He works closely with the white matter disease team and is involved in trials with Opsoclonus Myoclonus syndrome and is setting up regional one stop Leukodystrophy MDT services at Evelina London Children’s hospital. He is postgraduate education lead for neurology trainees and a keen educator, alongside aspiring to spread knowledge of paediatric neurology to the developing world.

Professor Wiebke Arlt is a Consultant Endocrinologist at the Queen Elizabeth Hospital and the William Withering Chair of Medicine and Director of the Institute of Metabolism and Systems Research (IMSR) at the University of Birmingham, UK. She obtained her MD at the University of Cologne, following by clinical specialist training in Endocrinology & Diabetes at the University of Wuerzburg and postdoctoral training in paediatric and molecular endocrinology at the University of California at San Francisco, CA, USA, before joining the University of Birmingham as an MRC Senior Clinical Fellow in 2004. Professor Arlt’s research focusses on the role of steroids in health and disease, with a translational focus on adrenal insufficiency, adrenal tumours and polycystic ovary syndrome. This closely links to her clinical work as a consultant providing specialist services for patients with adrenal and gonadal disorders. She has published >200 original research articles and has received several major awards.

Bio coming soon

Linda has been preparing the charity’s year end accounts voluntarily since 2004. She was introduced through a friend whose children were diagnosed with ALD and has continued to offer financial guidance and advice throughout the growth of ALD Life. Linda is ACCA qualified and has worked both in industry and public practice.

Gemma is a Civil Servant, currently on secondment to UK Research and Innovation, the public funder of R&D in the UK. Gemma joined the Civil Service in 2015 after an eight year career as a research scientist. She obtained her PhD in Cancer Biology at UCL Cancer Institute and went on to work as a post-doctoral researcher at Barts Cancer Institute.

Théa Watkins joined Lloyds Banking Group in 1995 and currently holds the role of Head of Branch Management, North America. Based in the New York office, her team is responsible for all Internal and External Communications, as well as the North America Colleague Engagement agenda.Théa has a B.A. (Hons) in Business Studies from the University of the West of England Business School, Bristol, England.

Laura is currently an Account Director at Vested, a financial communications agency. Prior to this, Laura has held a number of roles in the communications industry, working with companies across the technology and finance sectors. As part of her work with Alex TLC, she hopes to help improve the awareness and understanding of ALD in our society

Olivia is studying business at University of Birmingham and has a long history with Alex TLC through her father, our previous Chair, sadly deceased from adrenoleukodystrophy. She is also a carrier and proactive in issues related to carriers.

Dr Gavin Bowen-Metcalf is a Cancer Biologist and Lecturer of Biomedical Sciences at Anglia Ruskin University, Cambridge, with experience in the fields of molecular oncology, genomics and histopathology.

Gavin completed his medical research training at Imperial College London, being awarded a Masters of Research in Oncology and Cancer Biology and a joint multidisciplinary Doctorate in Clinical Medicine (Oncology) and Biomedical Engineering (Medical Diagnostics).  Gavin has previously completed a postdoctoral research role at the Barts Cancer Institute, as well as working within the NHS, Industry and Regulatory Affairs.

Nahed works for M&G Investments and  is responsible for M&G’s asset management efforts to deliver outcome-oriented strategies, client specific mandates and flexible investment partnerships. Specifically, Nahed is responsible for leading the investment strategy design, modelling  and the development and continuous refinement of the M&G investment solutions modelling framework including both top-down (asset allocation) and bottom-up(security specific strategies). ​

Nahed joined M&G in 2016 in various roles, recently as a Senior Investment Strategist within the Investment Office. Nahed has started her career in Canada working for Caisse de depot et placement du Quebec in the global Index and Quantitative management team and has since held senior roles as a Multi-Asset strategist, most recently at Aviva investors. ​

Nahed holds a Bachelor in finance from HEC Montreal, and a Msc Degree in Quantitative Finance from Cass Business School, in London

Nahed’s involved with Alex TLC started shortly after her daughter Mila was diagnosed with Alexander disease, one of the rarest forms of Leukodystrophies.

Bio coming soon

Emma is a Research Inclusion Manager at the National Institute of Health and Care Research (NIHR).  Prior to this Emma worked as an Equality, Diversity and Inclusion (EDI) specialist and a Qualified Chartered Librarian in the education sector.  Emma holds a BA (Hons) in English with Journalism and a MA in Librarianship.

Emma’s involvement with Alex TLC started in 2014 following the discovery of ALD in several members of her family including being a carrier herself.

My daughter went to school with Alex, eldest son of Sara, the founder. When we heard about Alex’s diagnosis of ALD, I was fortunate enough to be able to use my influence to arrange a fundraiser by the cast of “Bad Girls”.

Having witnessed Alex’s relentless deterioration, it makes me sad that there is so little that can be done for sufferers of ALD. I have seen the battles Sara and Alex’s younger brother, Ayden have had to face, and am only too happy to be able to help raise the profile of the charity. It is vitally important to have a comprehensive support group for such a horrific and rare disorder, and have watched the charity go from strength to strength over the years. It is an honour to be involved. This awful disorder has to be stopped, so I urge you to support the charity in any way you can.

I have been extremely touched by Alex and Ayden’s story.  Anyone who takes just one minute to truly personalise this situation could not fail to be moved and left in awe at such courage and spirit, not to mention hard work!

I am happy to lend my support and hope you will too whether it’s by giving as financial donation, collecting together unwanted clothes for the charity shop, writing a letter to the government or getting ten friends to sponsor you to swim ten lengths at your local pool!

Do anything because anything can help.

Thank you

I met Sara, Alex and Ayden through a mutual friend. When Sara asked if I would be a patron for the charity, I was very honoured to be able to use my career to help such a worthwhile cause.

Before meeting the family I knew nothing whatsoever about ALD and have been devastated to hear of it’s appalling consequences. The charity provides a vital support network for families and gives grants for those most in need.

If you are reading this, I hope you can find it in your heart (and your wallet!) to help.

In June 2019, Britt Ekland’s (known for her roles in Get Carter, The Wickerman, and as Mary Goodnight in the James Bond film The Man with the Golden Gun) son Nicholai and daughter-in-law Alison, sat her down and said they had something very serious to tell her. Worried at what the possibilities could be, she sat patiently through the explanation of an early diagnosis given to their youngest son, Lucas. “At 3 months old, Lucas was diagnosed with Adrenoleukodystrophy, ALD. We found out from the newborn screening results in California. ALD was added only a few months before he was born.” Horrified by this news, Britt immediately sprang into action. “We are so lucky to know this information about my grandson, Lucas. He is going to be 3 years old in April and is doing well. He is monitored very closely with MRIs every 6 months and blood draws every 3 months and if needed, we can do something about it because we have this information. Babies are able to be monitored from birth and their lives saved because we can intervene with treatment. How is it that the UK does not have newborn screening for ALD?” Britt has agreed to be our Patron at Alex TLC and we hope that from her experience with her grandson in California, changes will be made in the UK as well. To learn more about Britt’s grandson Lucas and his fight against ALD: my.supportlpch.org/TheLucasProject