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RARE Neurology

The array of rare diseases with a neurological component is vast and the impact of neurological impairment can be profound on individuals and their families. We are delighted to bring you our Spring 2023 edition of RARE Revolution Magazine – RARE Neurology with an air of hope that rare neurological diseases are now attracting the attention of researchers and those involved in drug development, meaning we can dare to feel optimistic.We are delighted that this edition was sponsored by Inizio Medical.

We hope this edition, dedicated to the experiences and voices of people within RARE neurology, shares the community’s highs and lows and raises awareness of the

incredible work being done—from grass-roots advocacy to advanced scientific and clinical practice

Professor Tim Cox has dedicated many years of his long professional life as a doctor and medical scientist to the search for answers that might just change the outcomes for those affected by rare diseases. For the last 25 years he has sought to address a group of progressive neurological diseases that were completely without hope

The British Paediatric Neurology Association (BPNA) and the James Lind Alliance Priority Setting Partnership teamed up with professionals, individuals and families to shape the future of research into childhood neurological disorders. Co-lead Dr Ming Lim, consultant and reader in paediatric neurology at Evelina London Children’s Hospital, shares his insights into how the partnership project met the challenges it presented and the resultant outcomes that will drive research forwards

SMA Europe is a non-profit umbrella organisation bringing together spinal muscular atrophy (SMA) patient organisations from across Europe. In collaboration with its 26 member

organisations from 24 countries, it is creating a better world for individuals and families affected by SMA. Today it is on a quest for improved access by mapping the unique lived experiences of SMA patients to better understand disease impact and help drive a fairer structure for reimbursement and access for all

Hereditary transthyretin amyloidosis:

a case study of a rare disease

associated with peripheral neuropathy. David Gibson, PhD CMPP,

ApotheCom, an Inizio company, talks to us about the challenges around diagnosis and the impact it has on quality of life.

Ben Johnson and Emily Thompson, MEDISTRAVA with Matt Pugh and Natalie Roberts from Ashfield MedComms, both Inizio companies, argue the importance of considering the full holistic nature of emotional, psychological and motivational experiences of patients to support them to fully engage in their care and health decision-making.

In the last few decades, the global healthcare system has been shifting towards patient-centred care. For rare

diseases, however, well-coordinated care that focuses on the patient is a critical and largely unmet need. Megan Allen, Kristina Rodriguez and Michelle Kim from Meditech Media ask What’s on the horizon for patient centred trends in rare disease?

Inherited metabolic disorders (IMDs), also known as inborn errors of metabolism, are rare conditions that interfere with the body’s ability to convert food into energy and to remove waste and potentially harmful

substances. IMDs can be severe, with progressive, irreversible and life-threatening implications that impact the life of not only the affected individual, but also their caregivers and families.Amanda Henkel and Rachel Hatfield from MEDiSTRAVA Consulting an Inizio company, shine a spotlight on the neurological features of IMD’s.

More than skin deep. Putting the focus on impactful research to advance neurological understanding in xeroderma pigmentosum. XP typically affects the skin, but certain patients also have problems with the central nervous system (CNS) that involves a progressive decline in vision, hearing

and gait.

When Gaynor was diagnosed in 2012, aged just 42, with young-onset Parkinson’s disease (YOPD), the bottom fell out of her world. “You think when you’re diagnosed with a chronic condition, help will be there

automatically—someone will gather you up,” she says. The reality was shocking. “There is no lonelier feeling than being told you have Parkinson’s and thinking ‘I’m 30 years too young’.”

Creating campaigns that reach underserved communities: young-onset Parkinson’s disease. During the summer of 2022, an opportunity arose for Spotlight YOPD to develop a partnership with a creative agency—the OPEN Health Omni Team to help answer questions about how to support both the charity and the young people it supports.

Many in the rare disease world will know Alan Thomas, the founder of Ataxia and Me, by his hashtag #AlanEverywhere. He has supported us at events as our RARE Rev roving reporter and keeps the community updated via his active Twitter feed. He is a beloved face in our community, and it was our pleasure to have a virtual cuppa and natter with him about his experiences living with a progressive neurological disorder

The revelation that Lesa Brackbill’s

six month old daughter Victoria (Tori) was dying sent her life spinning into a new direction. The double devastation to learn that had she been diagnosed earlier she could have been treated and saved was unbearable suffering. Suffering that Lesa has committed her life to alleviating for other families carrying the Krabbe disease gene 

When the SMA community celebrated news

of a new FDA-approved drug, the celebration was short-lived for some. The drug’s high price tag has meant that access has been far from equitable. New Zealand has been in the centre of an access storm which has seen families become medical refugees forced to cross borders for life-saving treatment. Three families shared their stories.

Living with alternating hemiplegia of childhood: a sudden bout of paralysis is nothing strange for Jameel Davis. It is the primary symptom of the teenager’s AHC, a neurodevelopmental disorder that affects only one in a million births. Jameel and his mum Santana share their story

Problem-solving requires creative thinking and the ability to step outside a problem. When Professor Sameer Zuberi and colleagues in Glasgow’s Children’s Hospital approached tech company vCreate about its challenges supporting patients with epilepsy and functional neurological disorders, he and vCreate’s founder, Ben Moore, saw an exciting opportunity to

reimagine the way the NHS triages and remotely manages such conditions. This led to a new secure video service and a new way of working for Professor Zuberi and his colleagues in the NHS

Schinzel-Giedion syndrome (SGS) is a very rare, life-limiting genetic disorder arising from de novo mutations in the SETBP1 gene. Hear how collecting natural history data and tracking seizures will help this rare disease community prepare for upcoming clinical trials

Heidi Wallis, executive director of the Association for Creatine Deficiencies shares how ACD is changing the landscape for research into creatine transporter deficiencies (CTDs) by bringing families and professionals together and driving projects in partnership

The arrival of Brandon and Haley

Prescher’s third child, Xavier, their first

son, was a cause for celebration. Just one

month later, joy turned to anxiety as he

failed to gain weight and went on to have

his first seizure at just 11 months old. After

Xavier’s diagnosis of creatine transporter

deficiency (an inborn error of creatine

metabolism), Brandon and his family are

learning how to find balance and turn

failure to thrive into learning to thrive

Annabelle Hoover shares her powerful

insight into life as a young women living

with juvenile batten disease and her fears

for her younger brother whose disease

progression is more rapid

CATS Foundation – Reimagining patient

support in a post-COVID landscape.

It is no surprise to any of our readers that the COVID-19 pandemic was hard on the rare disease community. Anxiety about clinical vulnerability to COVID infection, and lack of access to services had a huge impact on all. The sense of isolation created by the challenges has left a scar on many. As charities, our inability to connect with our communities in person led many to turn to online events, which were a lifeline during lockdowns. But while many have returned to business as usual, some organisations are harnessing the benefit that this wrap-around virtual connection can provide.

@Alex TLC, supports individuals and families affected by a group of rare genetic conditions called leukodystrophies. In 2018 they were invited to be the lead patient voice representative for the development of a new service and registry with NHS England called the inherited white matter disorders (iwmd) diagnostic and management service (all ages)

It took 27 years for Aviva Rosenberg to

receive a diagnosis of Gaucher disease

type 1 (GD1). But her diagnosis while

pregnant meant that the diagnosis of

her son, Eli, came much quicker. As a

patient, rare parent, and co-president of

the Gaucher Community Alliance, Aviva

is well-placed to set the scene for the

current landscape of treatments for the

GD1 community and to look ahead to the

potential for possible curative therapies that

the community hopes for

The global movement, #DuchenneCan, has

drawn inspiration from witnessing what

people living with Duchenne CAN achieve.

From graduating as genetic scientists

to winning Olympic gold medals… each

#DuchenneCan story is a testament to the

determination and positive can-do attitude of those affected by a disabling rare disease

Mental health awareness and support has grown, in part due to public figures’ sometimes tragic experiences.

However, mental health issues afflict millions of average people. E.Robert Wassman from Trend provides this issues Rare Insights column on mental health in the rare disease community

It’s not what you do, it’s the way that you do it… Join resident columnist Richard Gelati for this issues #RARERamblings where he talks about adjusting the sails in the storms.

Join resident #RARETech columnist Sean Gordon as he looks in to rare neurological

diseases and the technology that can improve patients’ lives

Tymiak Hawkins was a talented basketball player and was about to marry his fiancée,

Rachel—everything was going his way. That all changed when he was diagnosed with cerebral cavernous malformation (CCM). Soon he would start the long road to physical and mental recovery, forcing him to leave behind his fast-paced way of life.

Book Review: Chief Everything Officer – a field guide for small organisation leaders by Flóra Raffai

“As a founder of a non-profit company and a rare disease charity, I feel you could say this book “had me at hello”—just with its title. Rarely have I related more to a book title!“

Cure & Action for Tay-Sachs (CATS) Foundation has released a new resource for siblings, a book titled A present for my sister. Specially written by Rosalind Stopps and illustrated by Jessica Fitz-Howard, the book is to help siblings understand Tay-Sachs and Sandhoff disease and the impact they have on siblings. Here, Raife Miller, a RARE sibling, give his review

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