Rare Diseases - Q3 2020 by Mediaplanet UK&IE

Q3 / 2020

An independent supplement from Mediaplanet who take sole responsibility for its content

RARE DISEASES Full campaign on www.healthawareness.co.uk

Meet Iggy Iggy is 7 years old. He has a condition called Trip 12. Those affected by Trip 12 often have learning and speech difficulties and it is also linked with autism.

#ShowYourRare © C E R I DW E N H U G H E S/SA M E B U T D I FFE R E NT

I have days that are about accepting and being really grateful that he is exactly who he is. I think he’s just incredible, and that’s definitely a part of the genetic condition so in a weird way I’m also grateful for it.” ~Sarah, Iggy’s Mum (Journey of Hope, www.samebutdifferentcic.org.uk/journeyofhope)

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IN THIS ISSUE

“Acknowledging that XLH is far more than rickets is just the first step toward better outcomes for patients’.”

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The effects of COVID-19 on the rare community COVID-19 has hit people living with rare conditions hard. They may be more vulnerable to infection, susceptible to greater severity of symptoms once infected and there is a risk that infection could trigger a deterioration of their underlying condition.

~ Oliver Gardiner International XLH Alliance Chair, XLH UK

08 “Unfortunately, the patients who participate in clinical research are typically not a diverse representation of the actual population.” ~ Christian Rubio Vice President of Strategic Advancement, Global Genes

10 “The value of early diagnosis for a growing number of rare diseases is high.” ~ Nick Meade Director of Policy, Genetic Alliance UK Project Manager: Natalia Sanz Dawson E-mail: natalia.sanz.dawson@mediaplanet. com Business Development Manager: Kirsty Elliott Content and Production Manager: Kate Jarvis Managing Director: Alex Williams Head of Business Development: Ellie McGregor Digital Manager: Jenny Hyndman Designer: Thomas Kent Content and Social Editor: Harvey O’Donnell Paid Social Strategist: Ella Wiseman Mediaplanet contact information: Phone: +44 (0) 203 642 0737 E-mail: uk.info@ mediaplanet.com All images supplied by Gettyimages, unless otherwise specified @HealthawarenessUK

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Please recycle

Jayne Spink Chief Executive Officer, Genetic Alliance UK & EURORDIS Board Member

he impacts of COVID-19 have fallen heavily on the rare community. Shielding and self-isolation have amplified levels of isolation and anxiety ordinarily felt by many people living with rare conditions. Efforts to contain COVID-19 built barriers to the daily basics of living as well as critical services such as health and social care, care at home, education and respite. Many individuals and families have been placed under immense pressure. Preliminary figures published by Eurordis paint a distressing picture Across Europe, hospital units providing specialist care were closed, disrupting the care of nine out of 10 rare disease patients. Of these, six in 10 report these closures as detrimental to health and three in 10 report these interruptions as either definitely or probably life-threatening. One in five reported interruption to the supply of a medicine for their rare condition and more than half of those who needed surgery or transplant had these interventions cancelled or postponed. Delayed diagnoses, periods without treatment and therapies will all have significant impacts for months or years to come. Charities need financial support to recover As charity finances suffer, so too will early stage studies into rare conditions and research careers that feed the pharma and biotech pipeline. But there are some silver linings. Firstly, during COVID-19, many rare

Rare Inspiration. Changing Lives. alexion.com

disease patients had access to remote care or telemedicine for the first time. Judiciously used, and properly integrated into care-pathways, telemedicine could help to relieve the burden of care coordination that has fallen to patients and families. This reduces expenses, disruption and effort of travelling to appointments, while providing easier and timely access to medical advice and monitoring that could significantly benefit clinical care and research. We must hold onto the progression seen as a result of COVID-19 Secondly, we have witnessed a level of collaboration and regulatory innovation in the development of treatments and vaccines for COVID-19 that few would have imagined possible pre-pandemic. These approaches and flexibilities could serve as a template for acceleration of development of orphan medicinal products, bringing hope to the estimated 95% of rare diseases for which there are currently none. The greatest pity for the rare community would be to emerge from the pandemic to a restoration of the pre-COVID-19 status quo.

©IMAGE PROVIDED BY GENETIC ALLIANCE UK

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The potential benefits aren’t being prioritised enough So why are so few conditions screened for at birth in the UK? Recommendations on newborn screening programmes are made by the UK National Screening Committee, who weigh the potential benefits against the potential harms. One reason the UK lags behind is that, in comparison to other nations, the UK is either valuing the benefits less, or assessing the harms to be greater, or both. We’re becoming used to COVID-19 affecting everything – this topic is no different. The Secretary of State for Health announced in August that Public Health England is to be broken

up to form the National Institute for Health Protection, with other prevention related activities of the organisation to be organised in a different way. It is too early to know how this might affect the UK National Screening Committee, and whether this may accelerate or delay change and progress.

Newborn screening allows affected children to receive appropriate care and treatment as early as possible, and often before symptoms appear. Early diagnosis of rare diseases must remain priority Regardless of which Government agency runs screening, if the UK’s approach is to change, the weighting of the risks and benefits of newborn screening must shift. The rare disease community’s view is clear. The value of early diagnosis for a growing number of rare diseases is high and disproportionate weight is given to potential, rather than evidenced, risks. The public holds the answer. To find the appropriate path for the future of newborn screening in the UK, we need to know the view of an informed public on the balance between the benefits and harms of newborn screening. How much of an impact does a false alarm have, compared to the value of knowing early about a potentially life-limiting condition?

Elaine Banks & Mike Funnell patient pictures

©IMAGES PROVIDED BY UK PITUITARY FOUNDATION

arly intervention is crucial. Newborn screening allows affected children to receive appropriate care and treatment as early as possible, and often before symptoms appear. Such early interventions can save lives and slow or prevent disease progression and families are spared a rare disease diagnostic odyssey, which can last years. The early diagnosis of an affected child has the added benefit of supporting family planning, providing couples with the opportunity to exercise reproductive choices if they wish to. In the absence of a treatment, screening can build a platform for research. Comprehensive registries can be built with the high identification and diagnosis rates that screening delivers. This allows our understanding of rare conditions to grow, facilitating research that can lead to future treatments.

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Adrenocortical cancer

support and information

Paid for by HRA Pharma Acc Support uk

This article has been commissioned and fully funded by HRA Rare Diseases. HRA RD have reviewed the content for medical accuracy only. The narrative and views expressed are the authors own.

Why there should be more awareness of Cushing’s syndrome Spontaneous Cushing’s, originating from within the body is rare, but occurs when too much of a hormone called cortisol (the body’s natural steroid hormone) is made. If the source of the problem is the pituitary gland, then the correct name is Cushing’s disease. Whereas, if it originates in the adrenal gland or anywhere else in the body, then the correct name is Cushing’s syndrome. Two people reveal their life-changing experiences.

Elaine Banks

Mike Funnell

What were your symptoms? I gained around six stone and developed a round, red face. I wasn’t able to sleep and had chronic fatigue. I was breathless upon exertion, or even just walking upstairs.

When were you diagnosed? I was 28, but symptoms first appeared when I was about 16. These included extreme fatigue, weight gain around my middle, a round face with red cheeks, insomnia and depression.

Did diagnosis take a long time? Yes. I’d had Cushing’s for probably 10 to 12 years without knowing it. The trouble was that clinicians treated all my symptoms — including diabetes, high cholesterol and high blood pressure — as separate entities. Much later, one doctor considered them all together and suspected Cushing’s. When diagnosis finally came, I could have jumped for joy because I at least knew what the problem was. I had an operation to remove most of the tumour in my pituitary gland and five weeks of radiotherapy. A year later, I went into remission.

How does Cushing’s affect you? I’ve had three surgeries to remove the majority of the tumour from my pituitary gland, and I’m now in remission. But it’s been tough. There have been some small improvements in my blood pressure and weight but I’ve now been diagnosed with gout, infertility, low testosterone, thinning of bones and an underactive thyroid. I was a care worker, but Cushing’s has forced me to change jobs — although I’m lucky my current employer is so supportive.

How does the condition affect you? Life is still challenging. I’m unable to work due to fatigue, and I have to pace myself and not do too much. Thank goodness for the Cushing’s UK group on Facebook, where 1200 members share their own experiences and offer each other support and advice. I believe it saved my life.

Is there enough understanding of Cushing’s? Not in my experience. It took a decade or so for someone to work out what was wrong with me. Now I know that I’m not just “fat and lazy”, which some doctors have intimated in the past. There needs to be more awareness and info about Cushing’s, for medical professionals and the public.

Acc Support uk

Mike Funnell Patient

Written by: Tony Greenway

Acc Support uk

Effective support and information for ACC is essential

Adrenocortical cancer (ACC) is an ultra-rare cancer of the adrenal gland cortex, affecting fewer than two people per million each year. A new test was recently developed that should improve diagnosis.

CC is an extremely rare whose sense of desperation at the and often aggressive lack of support for the ultra-rare cancer in the outer layer adrenal cancer community was (cortex) of the adrenal palpable, the Association for gland, affecting one to two people Multiple Endocrine Neoplasia per million per year. ACC in adults Disorders (AMEND) agreed a tends to occur in people in their collaboration with Neuroendocrine 50s and 60s and is more common Cancer UK (NCUK) in order to in women than in men. share their resources for the Most ACCs are sporadic benefit of ACC patients. Between (meaning that they do not run in us, ACC patients receive free families), but they may sometimes information resources written be part of a congenital (present in straightforward language, at birth) and/or familial (passed and a variety of support services, down in families) including access to condition. a professional and The cancers can free counselling be functioning service. The lack of centralised (producing care and access to only hormones) or The future for a small number of clinical non-functioning, ACC patients trials compounds the with symptoms A group of problem in ACC. being wide-ranging international from excess researchers facial or body hair in women or led by Professor Wiebke Arlt soreness and increase in the size (Birmingham) have recently of the breasts in men through developed a new urine test to to pain, swelling or weight loss, identify ACCs earlier than ever respectively. before and save lives. Nevertheless, prognosis In the UK, care for ACC is generally poor, due to late patients is due to be centralised diagnosis and a lack of effective as part of the National Specialised treatments. The lack of centralised Commissioning initiative. ACC care and access to only a Support also developed a set of small number of clinical trials patient experience videos to help compounds the problem in ACC. patients better understand their disease. Patients shared their stories How ACC Support got started of diagnosis, treatment, and living After being approached at a with ACC, providing a poignant medical conference by a surgeon insight into this rare cancer.

Mrs Jo Grey CEO of AMEND (Association for Multiple Endocrine Neoplasia Disorders) (Right)

When diagnosis finally came, I could have jumped for joy because I at least knew what the problem was.

Elaine Banks Patient

Adrenocortical cancer support and information

Catherine Bouvier CEO & Co-Founder, Neuroendocrine Cancer UK, President, International Neuroendocrine Cancer Alliance (Left)

UK/ENDO/0056

Date of prep September 2020

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Rare diseases: making the unseen seen Contrary to the isolation of lockdown, a vibrant and vital new collaboration emerged. Action for Rare Disease Empowerment (ARDEnt) is a cross-sector coalition of 30 UK-based experts involved in rare diseases.

Jo Balfour Managing Director, Cambridge Rare Disease Network (CRDN)

Rebecca Stewart CEO, RARE Revolution Magazine

Dr Lucy McKay CEO, Medics4RareDiseases

Prolonging the ‘diagnostic odyssey’ Rare disease diagnosis is long and arduous, averaging over five years. Primary care’s one-problem-ata-time and secondary care’s onebody-system-at-a-time approaches are rarely compatible with these complex diseases. Patients are bounced in a game of medical ping-pong between specialists until a someone looks holistically and takes charge. With health services being stripped back as a response to the pandemic, the former status quo will potentially be more desirable than the ‘new normal’ for rare disease diagnosis. ARDEnt is examining how the pandemic has exacerbated the problem of diagnostic delay. Something we can ill afford when ~75% of rare diseases start in childhood and ~30% of those with a rare disease die before their fifth birthday. However, opportunities have also opened up because of the pandemic, such as reduced communication barriers between specialties and more information sharing. ARDEnt wants to harness these to change the outlook for rare diagnosis.

Confusion, cancellation, and silver linings for coordination of care For patients with rare diseases, the pandemic brought anxious waits for confirmation of their risk level and shielding letters, followed by cancellation of vital services. Essential in-patient treatments, physiotherapy, day care and home care support were halted. Additionally, the Coronavirus Act suspended legal duties to provide support for children with special educational needs and families of children with rare conditions found themselves grappling with home schooling and care needs alone. As health, social care and education services begin to return to the “new normal”, ARDEnt are finding some services, vital to the wellbeing of families and patients affected by rare disease, facing delays and no clear directives for restarting. Amidst the challenges there are opportunities. For those with Autism Spectrum Disorders, the slower pace of life and reduced crowds have been beneficial. Also, the overnight adoption of telemedicine has demonstrated its benefits and limitations for the future of healthcare. Entering a new virtual reality Patient groups have long challenged the traditional drug development timeline and methods that don’t work well for rare disease patients who are, often few, widely spread and are running out of time with progressive diseases. ARDEnt’s investigations show that COVID-19 has further damaged a fragile system with research studies, clinical trials and drug development projects postponed or cancelled. But there is hope. Could new methods translate into more effective, efficient outcomes allowing for a continuation of services in a future crisis? Remote signing of consent forms and remote audits: monitoring health through wearables; telehealth; deploying specialist nurses to collect bloods; and posting oral drugs – this pandemic has led to an almost overnight digital health revolution and a rethinking of how we can develop drugs when there is a time imperative. A precedent has been set and it is imperative these lessons are highlighted and adopted for the benefit of rare diseases.

oncerned at the impact of COVID-19 on those affected by rare diseases, three leaders replaced isolation with collaboration. The ARDEnt team was assembled by Dr Lucy McKay - CEO of Medics4RareDiseases, Jo Balfour - Managing Director of Cambridge Rare Disease Network and Rebecca Stewart - CEO of Rare Revolution Magazine, building an expert cross sector group; from patient advocacy professionals, datamanagers, academics, healthcare and industry. ARDEnt is united in their goal to bring benefit. By exploring how people affected by rare conditions may have been disproportionately negatively impacted by the COVID-19 pandemic, they hope to plan for a better response to future crises and improve the rare disease patient journey, post COVID-19. The team’s investigations illuminate examples of creative adaptability that could be utilised more widely in future. A report outlining findings and recommendations from ARDEnt’s ‘Making the Unseen Seen’ project will be shared with government in hope of influencing the UK Rare Disease Strategy 2020 creation and implementation.

75% of rare diseases start in childhood and ~30% of those with a rare disease die before their fifth birthday.

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