Alan Finglas, founder of MSD Action Foundation and Saving Dylan, contemplates EU policy and the potential it has to open the gates for real change in the rare disease community
After attending the 10th European Conference on Rare Diseases & Orphan Products (ECRD) in May, Alan Finglas founder and research manager of MSD Action Foundation and SavingDylan.com explains his hopes and fears in the coming years of how EU policy will shape the rare disease landscape and the importance it will play in driving change. Alan is concerned how things will look in the next five to 10 years unless huge improvements are made and how he has been inspired to write about two priority items that he feels must be delivered in order to drive real change for the rare disease community.
I sometimes think of the landscape in the rare disease space when my son was diagnosed five years ago, where we are today and where we might be in the next five to 10 years’ time. This gives me a complete mixture of emotions. Positive things have been achieved but we must do much, much, more.
Attending ECRD 2020
The European Rare Disease Conference (ERDC) was held online on 14th and 15th May 2020. It was the largest online conference that I have participated in. It was a positive experience overall and I am encouraged that in the next six months Eurordis plan to pull together their medium to long term EU policy strategies for rare diseases. I think we are all agreed that changing EU policy on rare diseases is very essential work. I would like to take this opportunity to thank Eurordis, the European Reference Networks (ERN’s) that cover rare diseases and every patient advocate that works towards change for patients and their families that are affected.
Multiple sulfatase deficiency:
Is a complex, inherited disorder caused by a genetic mutation. The condition results in the dysfunction of specialised proteins known as enzymes responsible for the breakdown of certain sugars and fats in the body. As a result, these sugar and fat molecules accumulate to toxic levels in many of the body’s tissues and organ systems, especially the central nervous and skeletal systems. Because the disease affects different children at many different stages, multiple sulfatase deficiency is often classified as “neonatal,” “late-infantile,” or “juvenile.” Multiple sulfatase deficiency is one of about 50 diseases classified as lysosomal storage disorders (LSD).
Source: Boston Children's Hospital
EU policies are required to open the gates for real change in rare disease
I do fear how things will look in five to 10 years if we fail to make these huge improvements that ultimately help patients and their families. I would hate to be in a situation, looking back, saying “we could and should have done so much better.”
This inspired me to write about two priority items that I feel we must deliver on. There are many other particularly important EU policy changes required but I believe the following are crucial to open the gates for real change for the rare disease community:
1. An EU policy goal should be: To ensure that European countries must have a clear implementation plan and budget for their National Rare Disease Plans (NRDP). No half measures should be acceptable. This can mean that we will have a real chance of not leaving anyone behind.
2. An EU policy goal should be that every country, at the very least, must have a rare disease: Contact Registry (no sensitive data or clinical data). These should be run and kept updated by health ministries via their National Rare Disease Office. They should be heavily promoted by healthcare professionals in every hospital. When there is a rare disease diagnosis, enrolment should become a natural thing to promote.
If everyone believes we will achieve!
About Alan, MSD Action Foundation and SavingDylan.com
Alan is the research manager and founder of MSD Action Foundation and is working to accelerate research on MSD by supporting a pipeline of research that is showing great promise in supporting potential treatments and meaningful research advancements on MSD.
MSD Action Foundation and SavingDylan.com were established in 2015 by Dylan’s parents Alan and Michelle Finglas with the help of some wonderful volunteers and board members. The foundation aims to promote and support research advancements that will lead to improvements in clinical outcomes, life expectancy and quality of life for patients suffering from multiple sulfatase deficiency.
As the UK went into lockdown, and we closed the door on our small office, like many, we firmly anticipated this to be a three-week measure. Never could we have imagined that it would be five months before the world began its re-emergence.
Between our team we have nine school aged children, one family who were required to shield and, in May, one new recruit, so it's fair to say it has been a challenging juggling act for all. However, with adversity comes solidarity and with companies, regardless of geographic location, in the same boat relationships seem strengthened and opportunities for new ones opened up almost overnight, with the widespread adoption of the zoom call!
In this blog, five of our team members; Rebecca, Nicola, Daisy, Catherine and Emma, reflect on work and home life during a global pandemic.
Many of you will know our colleague David who himself has a rare disease. David shared his own unique reflections which you can read in his blog My reflections on COVID-19
Here at RARE Rev we have always offered flexible and remote working so the move was not too worrying or challenging and indeed for David and myself, who always work remotely, it was business as usual. Being a digital business meant we could also stay fully operational, so we feel immensely fortunate.
Operationally we owe all our success to the resilience of the team who have maintained productivity alongside juggling children, intermittent internet, and meeting interruptions. Their sheer tenacity and enthusiasm to carry on, delivering world class work with an upbeat and can-do attitude has been our saving grace, and I could not be more thankful or proud of their efforts. And whilst I do not think we are out of the woods by any means I am optimistic that our agility, flexibility and dedicated team will allow us to continue to innovate in rare disease communications well into the future.
Nicola Miller, editor- in-chief and creative director is a mum of two primary aged children and a shielding family. Nicola has risen to the challenge of producing the latest summer edition, RARE Nephrology, whilst supporting her family through the isolation of keeping safe
Since March we have seen the entire season of spring come and go, and before we re-emerge summer will be all but over too. Working from home while home schooling brings its unique challenges, but as a shielding family, by far the biggest challenge has been complete and absolute social isolation.
With a clear directive from the government to avoid all “face-to-face contact”, our world has been confined to our home and garden, and the only faces we have seen are our friends and family over Zoom, and the odd fleeting glimpse of a neighbour heading to their car. As a family affected by rare disease, isolation is not a stranger to us, and comes with the territory, as does the practice of trying to dodge infection and virus’s, which is all very normal for us, but this absolute isolation is a different level again!
There isn’t a day in the last 100+ that I haven’t counted my blessings that we have faced this head, on as a tight family of four with a strong love and bond, (which despite the inevitable home school headlocks, has grown immeasurably stronger over this period), and not, as many have, home alone.
We have been there for each other in the night hours when one or all of us can’t sleep, when we have each at times slipped into a lockdown funk and needed to be rallied back to good spirits, and when just the whole global situation has seemed so overwhelming. But for many this has been a crisis they have faced alone. I for one, know that when my family are finally allowed out of this, and can once again embrace people, the biggest hugs and squeezes we have saved up during this time, will be going to those members of our family, friends and community who fall into that category and have faced this alone.
Daisy Marriott, communication assistant, joined our team during lockdown and has had to hit the ground running. Daisy reflects on first day nerves and and the unexpected technology benefits of remote working
I will miss the very short commute downstairs and as I am nearly always wearing ear bud headphones when speaking to the team, so the fear of mishearing anyone has diminished rapidly and I feel confident in conversation (I wish real life had a volume button). I also feel the reason I have adapted so well to working from home is mainly from the incredible support and guidance the RARE team have given me.
During my first week we had after-work virtual drinks which were brilliant, and I have never felt lost or alone despite being physically alone 9-5pm each day. I know there is always someone I can call on if I need advice and our group WhatsApp is never quiet. I have felt extremely grateful and even guilty sometimes that I have been given this opportunity at a time when many others have lost theirs.
I am really looking forward to being in the office and physically being part of the team and it will be a bonus having the added pressure to wear normal clothes again. A little reminder for anyone that is working from home. Don’t forget to change out of your PJs BEFORE the meeting.
Catherine De Vaal, communications associate and mum to two primary aged children talks about guilt and her determination to onboard our newest team member will all the support she needed
Which is why I have been incredibly lucky to have a supportive family, friends, colleagues and workplace, without whom I would certainly have lost my head and motivation.
Daisy started working for RARE Revolution amid lockdown, I was absolutely determined to make her feel a part of the team and supported during a complex time to start a new job. We have been incredibly lucky that Daisy is so self-motivated and immediately slotted in, rising to every task she has been set.
Daisy works across the brands and team and so is given work tasks from multiple people. This can be challenging which is why we have regular contact with each other. When Daisy started, I gave her an onboarding document with logins and explanations to what she would be working on and the different platforms she would be using. We are in daily contact either with a scheduled catch up, via video calls and WhatsApp.
It doesn’t feel as though I have only met Daisy in person twice. She very much feels a part of the team and I cannot wait until we can sit across the room from each other without the dodgy internet connections and noisy children in the background!
Emma Bishop, design and editorial associate and mum to two primary aged children has shown her dedication and enormous talent editorially and more recently as a home schooler!
I am not just working from home now, but also looking after and home schooling my two primary school children. And so, my new office is at the kitchen table. Working in design it is not just a case of having a laptop that I could set up anywhere—I need a laptop, plus a large monitor, which takes up a lot of space. My work area also doubles up as a school desk for my children. On my new desk you will find a large monitor, a laptop, a keyboard, piles and piles of paper, maths sheets, glue, scissors, colouring pens, Mr Men books and the list goes on!
The benefits of having my workspace in the main family area is that I can work, but still be present, able to monitor my children. And it also means I can do some work when I get a free five minutes or the luxury of half an hour, often mid cooking dinner! This is also the downside though, as there is a tendency for work to encroach on homelife and for it to feel like I am never away from it. Having it all set up in the main family space means it is always at the forefront of my mind and it is very easy to keep dipping in and means I don’t have set working hours.
But it is what it is, it works, and I am incredibly lucky to be able to work from home and take care of my children too. For now, our new ‘normal’ works and allows us to all be together and safe, which is far more important than a perfect, tidy home office!
Families across the UK are experiencing major changes to daily life at the moment, but families of children living with rare genetic and neurodevelopmental conditions will experience some of the greatest impacts of the Covid-19 pandemic. While there has been a flurry of online surveys over the past few months, these are likely to overlook the specific challenges these families are facing. There is an urgent need for research to investigate the effects of the pandemic on mental health, particularly within these more vulnerable groups, in order to understand how to improve support.
My existing research focuses on gaining a better understanding of the cognitive and behavioural difficulties that many people living with rare conditions face. Much of my research involves face-to-face assessment and so has been put on hold during the pandemic. When we started speaking to families involved in our studies to discuss remote assessment, the huge impact of the pandemic became clear. That’s why, along with a UK-wide network of experts, I launched the CoIN Study, which is an online study aiming to understand the impact of the pandemic on mental health and wellbeing in families of children with rare genetic and neurodevelopmental conditions.
Children with these rare conditions will often live with a unique combination of physical and mental health problems that have necessitated strict social distancing or shielding. Many will rely on a range of medical professionals, and access to this healthcare, and other intervention or treatment, has been drastically changed or removed during the pandemic. The mental health impacts of the pandemic will be felt for several months, even more so for these families, and the long-term effects of loss of support and healthcare are unknown.
We know that, even under normal circumstances, behavioural difficulties greatly impact upon quality of life in individuals with rare syndromes, and that families of children with rare syndromes experience anxiety, stress and low mood. The sudden change to daily life, such as carefully established routines and relationships, support networks, as well as professional support, combined with a higher risk of infection, is likely to impact upon wellbeing in both children and their parents, and even worsen existing difficulties. Because behavioural difficulties in children are associated with poorer mental health in parents, it is important that we understand their interaction during the gradual lifting of restrictions.
A key part of the CoIN Study is to rapidly feed back results to the community, as well as to design and distribute tailored information and coping tips based on our participants’ responses. We’ll also be asking parents to help to design follow-up surveys and reports of our findings. Ultimately the results will be used to inform how we can best support families both now and in future disruptive emergencies.
Interesting in taking part? We’re asking parents of children aged from birth to 16 years old with a rare genetic or neurodevelopmental disorder to complete regular online surveys both during and after the pandemic.
Find out more and sign up on our website below:
Silvia Davey has a rare condition known as achlalasia and is a trustee at Achalasia Action, a charity recently formed to support people with the condition. Silvia talks to RARE Revolution about her personal experience of living with achalasia and why she and fellow members of a support group were driven to formalise and establish the charity
I will never forget the time my first esophageal spasm hit me. The excruciating chest pain and difficulties breathing convinced me I was having a heart attack. I was scared I might die. Only after getting home from accident and emergency, having been told I’d had a panic attack, did I start joining the dots together. Could this pain have been caused by my achalasia?
I’d had an operation for the condition five years earlier, yet not a single clinician had mentioned that I might develop heart attack like spasms down the line!
Achalasia is a rare condition of the food pipe (the oesophagus) where the muscles and nerves that help propel food down towards the stomach stop working properly. It affects around 6,000 people in the UK, and causes a number of different symptoms, including the inability to swallow food (dysphagia), chest pain, spasms, aspiration and regurgitation of food. Ultimately, achalasia can cause severe weight loss and malnutrition, lung infections, and impact on a person’s wellbeing and mental health.
Given its rarity, and its disparate symptoms, it often gets misdiagnosed. People with achalasia can experience these symptoms for many years, and even decades, before they get a correct diagnosis. Although there are no effective treatments for the condition, symptoms can be managed with lifestyle changes, or relieved by operations that open-up the entrance to the stomach (Heller myotomy or peroral endoscopic myotomy), Botox injections or balloon dilations. These solutions are not always effective, and the symptom relief may be short-lived.
My story of achalasia
I developed achalasia when I was 17. After an initial misdiagnosis, where I was told I had an eating disorder, I was fortunate enough to be diagnosed in a matter of months and be operated on by one of the leading achalasia clinicians in Italy. I lived my late teens and early twenties pain free, bar the occasional bout of acid reflux. When I developed the spasms and started finding it difficult to eat again, I decided to seek further medical advice. But I was lost. Hundreds of miles away from home, in the British healthcare system, I didn’t know how to get the support I needed.
A trip to the GP was pointless: they had never treated a person with achalasia before, and I was referred to a hospital that did not have any specialists that knew about the condition. To be clear, I do not blame the GP for any of this. Awareness of achalasia is extremely poor amongst the healthcare community—it is barely researched or studied, and very few healthcare workers and clinicians have good knowledge of the condition. We know so little about it that even the exact cause of why the nerves that control the muscles of the oesophagus stop working remains unknown.
I was back to square one. Cue more Googling, and I came across the Achalasia Meetup group. Set up by Amanda Ladell (now an Achalasia Action Trustee), the group brings together people with achalasia once a month, to share experiences and exchange hints about the condition. In 2013, this group also started meeting twice a year with members of the Oesophageal Patients Association (OPA), to learn more about the disease under the guidance of consultant surgeon Majid Hashemi from University College Hospital, and other researchers and academics specialising in the condition. These meetings, and the kindness of all the members that attend them, were immensely helpful at the time and have continued to be throughout the years. They have helped me identify a specialised surgeon, have armed me with numerous diet hints, and have empowered me to make changes to my lifestyle that have dramatically improved my symptoms.
Achalasia Action was born
In 2019, several the group’s members decided to come together and formalise the group’s activity as a registered charity, Achalasia Action. The charity’s purposes include:
Under the guidance of its chair Alan Moss and seven trustees, the charity is now officially registered with the Charity Commission and has a website where people with achalasia can access support information and the latest achalasia-related news. It continues running its monthly and bi-yearly patient meetings, provides informal peer support to those in need, and has helped support regional achalasia meet-up groups across the country. It has also grown its social media presence and has started accepting generous donations from its supporters.
If you’d like to find out more about achalasia and the charity’s work, using the buttons below you can visit Achalasia Action’s website. We also have a Facebook page, Facebook group, and you can follow us on Twitter. If you’d like to support our charity, you can donate here. If you have any questions, or would like to volunteer, we would love to hear from you on
RARE Revolution’s David Rose, is our business development associate and an ultra-rare disease speaker. David reflects on life during lockdown, navigating work, managing his health and throwing his relationship in at the deep end.
The world has been a very different place over the last few months – I’m sure we can all agree on that. The COVID-19 pandemic has dominated the news since January and every aspect of our lives.
I moved in with my girlfriend a week before lockdown started here in the UK – we were very lucky in the timing. Due to the restrictions that were put in place – many of those in relationships who were not already living together found themselves having to be apart.
The frenetic pace of life has slowed for many of us
COVID-19 has made many of us rethink life in general and how we go about it. Before the pandemic much of the UK were living a very fast-paced lifestyle. Many of us had long working commutes and busy schedules, suddenly the majority of the population were forced to stay at home, no longer commuting and were very restricted in our activities. Perhaps, many in the UK, either by choice or no choice will have to rethink this lifestyle and go about life at a slower pace than before?
I work from home, so the big shift for people working in office spaces, now having to work from home, has not affected me. However, the same cannot be said about my health.
Managing my health during COVID-19
I think being ill my whole life has given me an odd advantage over healthy people during this outbreak.
Healthcare has and will continue to be affected in many ways throughout this pandemic.
For me personally, I’ve been more concerned about my own rare disease and the other conditions I have rather than COVID-19 itself. I’ve had plenty of near-death experiences growing up. I think that has made me look at my life a bit differently and made me very relaxed about things – not sure if that’s good or bad!
I think being ill my whole life has given me an odd advantage over healthy people during this outbreak. I have had dozens of operations and procedures and so have become used to long periods of recuperation and having to rest, spending a lot of time at home and being very idle.
However, my health issues have continued throughout this period and it has been an especially tough time to be ill, as many of the services I would normally access and take for granted have been unavailable or heavily restricted. My local GP shut a few weeks back, thankfully, they were available to help via the telephone to ensure I could still get my medications etc.
Since February and especially during March my health has been very up and down. Before the pandemic, this would have involved at least two trips to A&E when I was feeling particularly ill, but because of COVID-19 and the pressure on the NHS I felt I really had to stay out of hospital.
Many of those in the UK living with a rare/chronic condition received a letter from the government or their hospital. I received my letter saying that I’m in the ‘high risk’ category, but not required to shield. In all honesty, I wasn’t sure whether I should still shield or not – but I chose not to.
Moving to the next phase of COVID-19
At the time of writing this, I’m a few days away from attending my first hospital appointment in person for several months. As I said, my rare disease has been causing a lot of issues, especially during the past few weeks – so I’m looking forward to attending hospital – quite a weird expression, I know! It’ll be a weird sensation to leave my local area for the first time in months and to use public transport again.
Now that hospitals are starting to open a bit more, I imagine that the waiting lists for non-urgent appointments and operations will be through the roof. I think it will take quite some time for hospitals to recover from this backlog.
Telemedicine could well be the new normal in healthcare. Most of my clinic appointments have either been postponed or turned into calls, or even video calls. I think this will be the new normal for healthcare. Although you may not get the same benefits of seeing your healthcare professional in person, telemedicine has many advantages. Most notably, the cost of time and money.
The NHS staff have done an incredible job during this pandemic. I am so thankful to them all the time, as they always do a great job in looking after me on a day-to-day basis. But, having seen their dedication and the powerful images and videos online throughout the pandemic – it has really hit home how incredible they are.
Personally, COVID-19 has made me connect with my friends and family in a different way. Although we can now meet up albeit in a socially distanced way, for the first few weeks we turned to chatting via facetime and I have taken part in more quizzes than I could ever have imagined! And we still continue to stay in touch like this.
I can’t believe how fast the time has gone over the last few weeks – I really thought time would drag on.
It’ll be interesting to see how the next four months go – how do you think things will change in this next chapter?
''I Stay Home For Rare'' was launched in April 2020 to help people living with rare diseases and economic challenges during COVID-19. In response to the COVID-19 pandemic, Living in the Light, a patient advocacy company that specialises in rare disease storytelling through photography, narrative journalism and documentary video, launched I Stay Home For Rare , a campaign and fund to provide immediate financial relief and assistance to members of the rare disease community.
We are a small but mighty team leading this effort
In the first week of the campaign, I Stay Home For Rare formed partnerships with 12 different patient advocacy organisations nationally and raised over $45k, enough to significantly help 30 families pay their rent, buy food, and for some, provide vital therapies for their children who have lost access due to the pandemic.
We are raising and distributing emergency funds as quickly as possible as we adjust to this new global landscape
One unique aspect of the campaign is Living in the Light’s commitment to empowering families and individuals to share their stories and to openly address the isolation often associated with having a life-limiting condition—something many people are now dealing with for the first time due to social distancing protocols. The company is conducting ongoing interviews with members of the rare disease community internationally and sharing excerpts of their stories through social media and online platforms.
Stories highlight these challenges such as: a blind social worker living with Leber hereditary optic neuropathy who describes the difficulty of obtaining groceries amidst the backlogged food delivery services he relies on; a graduate student and poet with sickle cell disease who has been told to forego the outpatient pain management he needs in order to function; and an immunocompromised senior management partner at Google living with Duchenne muscular dystrophy who continues to work, but now lives in social isolation with his caregiver who is needed to help with routines to maintain lung function.
Sharing stories of resilience has been at the foundation of Living in the Light’s mission since 2012.
In solidarity with the rare disease community, the company has brought their expertise in narrative medicine and community organising to expand the patient advocacy efforts of numerous biotech and pharmaceutical companies, universities, and national patient organisations.Through the campaign website www.IStayHomeForRare.org one can make a tax-deductible donation or apply for funds, which are being distributed in grants of up to $2,500 per family/household. In addition to leading this effort, Living in the Light made an initial contribution of $10,800 to begin the first funding series.
There are valuable and vulnerable lives that depend on our collective effort right now. Regardless of the size of this campaign, we wanted to do something to advocate for our rare disease community during this unprecedented time, we welcome the support of industry to join us in fulfilling their corporate
For more information about 'I Stay Home for Rare' go to the website or contact Levi Gershkowitz using the buttons below.
To stay up to date with the campaign follow #istayhomeforrare or find Living in the Light on Instagram at @frompatienttoperson.
Kawasaki disease (mucocutaneous lymph node syndrome) mostly strikes babies and children under the age of five. It initially presents as a high fever that lasts for five days or more AND involves at least three of the following five symptoms: swollen glands, an angry rash, red swollen hands and feet, dry cracked lips/strawberry tongue, and bloodshot/infected eyes. In many cases, this disease causes serious and irreparable damage to the heart (usually in the form of aneurysms caused by inflammation in coronary arteries). Since Kawasaki disease symptoms are commonly seen in other general infections – including influenza and bacterial meningitis – misdiagnosis is tragically commonplace among parents and GPs.
Kawasaki disease is now recognised as the leading cause of coronary heart disease in children with effects that may be permanent for those who survive into adult life. It is the prime suspect in death by non-congenital heart failure among children and young adults. There has been a relentless increase of Kawasaki disease-related hospital admissions (from 507 in 2015/16 to 628 in 2017/18 - of which two-thirds were emergencies) in England and Wales, not to mention the undiagnosed, misdiagnosed, and adult statistics. In addition, there is some evidence of an up to a 10 per cent chance that susceptibility to Kawasaki disease is hereditary.
Although there is no evidence that sufferers are contagious during its active phase, it is possible that Kawasaki disease is airborne. If its victims survive their childhood, those worst affected and undiagnosed continue to have myocardial and vascular complications as adults. The number of Kawasaki disease victims later diagnosed has increased by 1,400 since 2009: and reported cases of Kawasaki disease probably represent just the tip of the iceberg.
Signs and symptoms include:
More information about Kawasaki Disease UK
Kawasaki Disease UK aims to help parents self-diagnose and identify the classic symptoms by day five, before the
critical phase of heart damage 11-13 days of the onset and aid recovery with treatment that prevents cardiac arrest in a young life.
To get in touch,for more information, parent guide and latest research please use the buttons below.
Dee Izmail - Founder of Kawasaki Fund
KAWASAKI FUND REG. CHARITY NO.: 1064518
KAWASAKI DISEASE UK LTD. REG. NO.: 11375141
Rare Revolution Editor