PTC Therapeutics’ 2020 STRIVE Awards for Duchenne Muscular Dystrophy Recognise Four Patient Advocacy Organisations
The 'Strategies to Realize Innovation, Vision, and Empowerment' (STRIVE) Awards announce the recipients of their 2020 programme with organisations from Argentina, Hungary, Russia and the U.S awarded funding. A total of 32 projects have been awarded funding since Awards inception in 2015
PTC Therapeutics, Inc. (NASDAQ: PTCT) announced the winners of its sixth annual STRIVE Awards grant program for Duchenne muscular dystrophy on the 8th of September. This year’s winning initiatives, spanning across four continents, include an online platform to improve peer-to-peer connections; a series of events designed to connect Duchenne families with healthcare professionals; a support program to help families navigate the emotional journey of living a rare disease diagnosis; and an ambassadors program to raise awareness of Duchenne in schools.
“The role of patient advocacy organisations is now more vital than ever before, with the unprecedented events of this year disproportionately impacting many rare disease patients and communities,” said Mary Frances Harmon, Senior Vice President, Corporate Relations, PTC Therapeutics. “I am so proud of the continued support we are able to provide to these organisations all around the world through the STRIVE Awards, so that they can keep Duchenne communities supported and connected through this turbulent time."
I am so proud of the continued support we are able to provide to these organizations all around the world through the STRIVE Awards, so that they can keep Duchenne communities supported and connected
Programs awarded funding as part of the 2020 STRIVE Awards are:
“In an era where lockdowns and social distancing measures are keeping us physically apart, I have been inspired by the innovative solutions and resilience demonstrated by patient organisations supporting Duchenne communities to stay connected,” said Anna Kole, MPH, Public Health Professional and one of the judges. “Applications were strong in all categories, but this focus on connections was a key theme we noticed in this year’s STRIVE Awards winning programs.”
About the STRIVE Awards Program
PTC began the Strategies to Realize Innovation, Vision, and Empowerment (STRIVE) Awards program in 2015 to support initiatives that benefit the Duchenne community by increasing awareness, diagnosis and education, and fostering the development of future patient advocates. Each year, an independent panel of external experts with knowledge in rare diseases, patient advocacy and funding initiatives, judge the entries for innovation, vision and empowerment.
For further information about the program and each award recipient, please visit the STRIVE section of the PTC website: www.ptcbio.com/en/about-ptc/ptc-strive-awards-program/.
About Duchenne Muscular Dystrophy
Primarily affecting males, Duchenne muscular dystrophy (Duchenne) is a rare and fatal genetic disorder that results in progressive muscle weakness from early childhood and leads to premature death in the mid-twenties due to heart and respiratory failure. It is a progressive muscle disorder caused by the lack of functional dystrophin protein. Dystrophin is critical to the structural stability of all muscles, including skeletal, diaphragm, and heart muscles. Patients with Duchenne can lose the ability to walk as early as age ten, followed by loss of the use of their arms. Duchenne patients subsequently experience life-threatening lung complications, requiring the need for ventilation support, and heart complications in their late teens and twenties.
More information regarding Duchenne is available through the Muscular Dystrophy Association and the Parent Project Muscular Dystrophy. Additionally, information and resources are available at www.duchenneandyou.com
About PTC Therapeutics, Inc.
PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialisation of clinically differentiated medicines that provide benefits to patients with rare disorders. PTC's ability to globally commercialise products is the foundation that drives investment in a robust pipeline of transformative medicines and our mission to provide access to best-in-class treatments for patients who have an unmet medical need. To learn more about PTC, please visit us on www.ptcbio.com and follow us on Facebook, on Twitter at @PTCBio, and on LinkedIn.
The PBC Foundation, the Edinburgh-based charity providing worldwide support and advice to people suffering from the incurable progressive liver disease PBC (primary biliary cholangitis); is today celebrating reaching over 40,000 people with its first ever global 24 online event to mark yesterday’s International PBC Day.
PBC sufferers, their families and the medical community joined a series of sessions with world-leading liver disease experts from as far afield as Australia, Japan, Taiwan and the United States. PBC currently affects around 20,000 people in the UK, mainly women; and is a leading cause of liver transplant in adult women.
I’m utterly speechless at how well our first global online event went. To reach over 40,000 people is just incredible and I am so grateful to all the experts around the globe who gave their time to speak to our PBC community about this rare liver condition for which there is still no cure.
Collette comments “These number reflect the amazing online support the PBC Foundation has provided to its service-users on a daily basis around the world since the start of lockdown. Daily online get-togethers have provided a lifeline of support and friendship to our members, many of whom were shielding in isolation”.
World-renowned experts who spoke at the event included: Prof. James Neuberger, (Queen Elizabeth Hospital, Birmingham), Prof. Eric Gershwin (University of California, Davis), Professor Michael Heneghan (Kings College, London); Dr Vinod Hegade (St James Hospital, Leeds);Prof Gideon Hirschfield, from Toronto,Prof Ulrich Beuers, from Netherlands; Prof Martin Weltman (Australia); Prof Ming-Ling Chang (Taiwan); Prof Atsushi Tanaka (Japan); Prof Pietro Invernizzi (Italy), Dr Andrew Yeoman (institution), Dr George Mells (institution) and Dr John Vierling.
Recordings of all the discussions will be available soon for those who were unable to attend on the day.
This initiative developed from an online support initiative where the Foundation broadcast live for 163 consecutive days during lockdown to patients in 29 countries, including patients in the UK whose life has been transformed through the information and support provided.
About PBC Foundation
The PBC Foundation is the only UK organisation exclusively dedicated to providing support and information to those affected by PBC. It currently serves members in over 75 countries around the world.
PBC is (Primary Biliary Cholangitis) is an incurable, life-long, progressive, auto-immune condition which affects the bile ducts and the liver. Currently around 22,000 people, mainly woman are living the condition in the UK. It is the leading cause of liver transplants in adult women.
For more information please get in touch with Collette and Robert:
Collette Thain MBE email@example.com
07714 756057 Founder & patient
Robert Mitchell-Thain firstname.lastname@example.org
07894238413 CEO & Head of Education and Development
CMT Research Foundation fighting to shorten the time to diagnosis and put CMT on the radar of Pharma
Patient-led research organisations are changing the landscape for rare disease research and drug development one disease at a time and the CMT Research Foundation are no exception. September is Charcot-Marie-Tooth (CMT) Awareness month and we are delighted to welcome George Simpson, volunteer media relations advisor, as our guest blogger to educate our community on this little understood disorder.
You could have Charcot-Marie-Tooth disease for years before you know It
You are forgiven if you have never heard of Charcot-Marie-Tooth even though the disease is as prevalent as multiple sclerosis and impacts ten times the number of people who have ALS. Named after the three French doctors who first identified it in 1886, CMT affects one in 2,500 people including 150,000 Americans and nearly 3 million people around the world.
CMT is a largely inherited condition (although it can occur spontaneously in some patients). It causes progressive deterioration of peripheral nerves that control sensory information and muscle function of the foot/lower leg and hand/forearm leading to significant problems with movement, touch, and balance as it advances. CMT can vary greatly in severity, even within the same family and can cause severe disability and in rare instances, even death. It can be—and often is—passed from parent to child. There is NO treatment or cure for CMT. And because it is progressive and degenerative, patient lives get a little worse each day with no hope of ever getting better.
CMT is widely undiagnosed or misdiagnosed before people fully understand why their bodies are deteriorating. It is estimated that tens of thousands of people have CMT, but don't yet know it. Parents can unknowingly pass it to their children. And there are those who suffer in solitude with their perceived clumsiness, weakness and lack of mobility simply because they don’t know how pervasive the condition is.
The challenges of receiving a correct CMT diagnosis
Roy Behlke a former designer with Pratt & Whitney Aircraft, always had trouble with the arches of his feet and foot drop. As a young man, he joined the Boy Scouts, but the mandatory 10-mile hikes were exhausting and frequently required crossing creeks on logs and homemade bridges. Roy ended up falling in the creeks on more than one occasion. As his condition worsened, Roy saw an orthopedic doctor, who diagnosed him with arthritis and said he would need to have his all his major joints replaced, one by one. Alarmed at the diagnosis, Roy saw a rheumatologist, who pointed him to a neurologist and finally a correct diagnosis of CMT at the age of 55.
CMT costs Julianna Moon her life. Her mother, a neurologist, knew early on that something was wrong—Julianna was missing motor milestones as an infant, but cognitively, she was sailing along. After 18 months of turning over every rock, testing, and consulting with multiple medical professionals and specialists, Julianna’s mother, Dr. Michelle Moon, decided to do some testing of her own—on her husband’s reflexes. From the test she realized—“Steve has CMT. Julianna must have it too.”
Immediately, they ordered genetic tests, but genetic tests only cover the most common types of CMT not rarer cases. Next, Julianna saw Dr. Michael Shy, a CMT expert who searches for new and rare cases. Julianna was diagnosed with a severe type of CMT which weakened Julianna’s respiratory muscles, amongst many other things, causing her to have to use a BiPAP (a breathing apparatus that pushes air into your lungs) by age two. She went on to became dependent on the device and in a wheelchair by age four. June 14th, 2016 – just 10 weeks shy of her sixth birthday—Julianna passed away.
Jaden Ellman (about to start his freshman year at Emory University), as an infant was slow to crawl, had difficulty walking and fell frequently. By 18 months, he was in a full-body cast to “repair” hip dysplasia. When that failed to address his problems, he endured dozens of medical tests such as muscle biopsies, nerve conduction and genetic tests but got no closer than “unspecified myopathy” as a diagnosis. The assumption was that he had a rare unknown muscle problem with no name. Meanwhile, doctors kept trying to fix whatever damage CMT was doing to his body. At 15, he had a spinal fusion to “repair” scoliosis. During surgery, the lack of nerve signals revealed that his problem was not muscular at all, but neurological.
More testing by Jaden’s regular doctors was inconclusive, but the mystery was solved when he was accepted into a study at the National Institutes of Health in Bethesda, MD. While being examined by the NIH in Baltimore, the experts there reviewed his earlier generic testing and new test results and concluded Jaden has CMT 1E, a rare form of CMT. Since then, he has been able to address his needs by getting leg braces to improve stability and four foot-surgeries last year to fix the damage CMT caused to his feet. Because CMT can progress at different rates in different patients, Jaden’s parents can only guess how this will impact the rest of his life as he prepares to leave home for college.
Diagnostic delay and lack of funding
“One of the challenges with the diagnosis of CMT is that there are many other diseases that can present with similar neuropathy symptoms such as diabetes. That and the length of time from symptom onset to a clearly defined diagnosis for a rare disease is about five years. Typically, this is a long and frustrating journey for patients and the experience of CMT patients is no different,” says Paul R. August PhD, the head of the Scientific Advisory Board at CMTRF.org.
“With the advent of genomic analysis and sequencing as a diagnostic tool the speed of diagnosis is improving. At the present time, neurologists will look at performing nerve conduction velocity tests which can establish if there is a deficit in signal transduction in peripheral nerves,” adds Dr August. “Based upon the result of this assessment it can categorise whether a patient has Type I or Type II CMT or if additional testing is required. Genetic testing is the gold standard since it can establish at a molecular level if there are specific gene mutations that could account for the patient’s disease.”
Part of the answer might be to better educate physicians about CMT, but chronically underfunded patient-led research organisations tend rather to focus on drug development. However, this is not without significant challenge. Diseases that affect many more people are "better bets" for pharma companies due to a larger market for new drugs. Everyone is touched by cancer in some way; not so many are exposed to the effects of CMT. For example, the National Institutes of Health invests nearly $39.2 billion annually in medical research. Of that, ONLY $12 million was spent on CMT in 2018. Meanwhile, NIH spends $112 million annually on Multiple Sclerosis (MS) and $83 million on ALS.
To find out more about the work of the CMT Research Foundation visit their website and connect with them across their social channels below.
We are very proud to be supporting and making some noise for Ataxia and Me our charity partners as we help in raising awareness for the rare neurological condition. The charity has a focus on `patients helping patients` to bring benefits to all affected by the rare neurological condition of Ataxia. Although, the main focus is Ataxia - they also incorporate associated rare disease and movement disorders. The broad scope of this platform gives a more holistic view of the information available to benefit the wider community of people affected by this "life limiting" neurological, invisible condition.
We caught up with our friend Alan Thomas founder of Ataxia and Me on all things Ataxia, he shares with us some exciting news and tells us how the charity is raising awareness this year with an exciting month long campaign! September 1st saw the launch of the #AtaxiaAdvent which has created a buzz on the run up to their awareness day.
International Ataxia Awareness Day (#IAAD) is on September 25th of each year. It is a coordinated effort from individuals and Ataxia organisations around the world to help shed light on this rare disease.
A message from Alan
"Ataxia and me are a patient focused charity (1184030) based in West Wales with a global following, We have seen our posts and images being shared around the world and even translated, by some into their own language.
"#TeamAtaxia (English) #TîmAtaxia (Welsh) is a successful team name for fundraising projects and events, (online this year, due to COVID19) which is a very recognisable project within the Ataxia and me community, along with our logo, which is an image of a Brain with the Cerebellum (the faulty part) highlighted, all using a tessellation of Hexagons."
Ataxia is a Greek word meaning "Lack of Order"...our mission is to bring back some order, to the lack of order
"During the month of September we saw an immense number of Social Media interactions, sharing of our #AtaxiaAdvent social media campaign where we post, one fact per day, about Ataxia these have gained many positive comments, as a result we are adding more interactive content to the #AtaxiaAdvent , for this Awareness day."
Exciting times ahead..
Following discussions with Cardiff University Work Experience team, we have developed a plan into looking at placements of students to progress the work of Ataxia and Me, as well as enhancing the students experience. ( 11 applicants for this years cohort!)
To get in touch and find out more about Ataxia and Me and their mission
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RARE Revolution’s David Rose, is our business development associate and an ultra-rare disease speaker. David gives us his unique perspective on the topic of
The perfect job is out there for everyone – it just takes a bit of hunting down sometimes. For myself it has taken a lot of back and forth to be in a stable working position. I really struggled to find work that gave a balance of career progression and flexibility to manage my rare condition.
Working from home has been instrumental to finding that balance – it has revolutionised my working life. I was starting to give up thinking I would not find anything that that allowed me to prioritise my health, but I did, and I’ve been working for Rare Revolution Magazine for over two years now.
It has not been a smooth journey living with a rare condition and trying to find employment that works for me. I’ve had a lot of remarks when I wasn’t working that were hurtful – often it was the classic ‘it must be great not having to work every day’. For many, work can be your identity. One of the first, if not the first question people ask is ‘what do you for work?’. People in the rare disease community are no different – we want to be part of something.
Working for a company that has the welfare of its employees at heart and a flexible working model has shown me just how possible it is to still strive for professional growth and look after my health. I started with RARE Revolution in 2018 having applied for a junior social media position but quickly progressed to Business Development Associate and I am part of the senior team. Together we are planning the future of RARE Revolution and it is great to be a valuable part of those plans.
Still amid the COVID-19 pandemic, a new ‘normal’ for working life is emerging. Businesses forced overnight, to manage teams remotely have realised that teams can be just as productive as when office based, and this new working culture brings with it an opportunity for those of us who need that flexibility. Working from home has made working life possible for me and I imagine the majority of those living with a rare condition would resonate with this.
I hope that this pandemic can leave a positive, equitable legacy that benefits our community.
Top Tips for RARE Employment
The following "TOP TIPS" have been collated from the experiences of David Rose, Daisy Marriott and David Singleton. Huge thanks to them for their valuable insights.
Please READ, LEARN, SAVE, PRINT & SHARE by clicking on the image or uising the button below:
September is Muscular Dystrophy Awareness month so what better excuse to catch up with RARE Rev friend and first ever RARE inspiration Michael McGrath.
Michael is Founder & CEO of The Muscle Help Foundation and in his guest blog he shares with us what he has been up too over the past few months. From shielding to shower curtains and how The Muscle Help Foundation has been adapting during COVID-19 to ensure they are still supporting their community and delivering Virtual Muscle Dreams to young people affected by Duchenne Muscular Dystrophy.
My week-to-view diary (I use electronic versions too!) has a small numerical annotation in black ink against Wednesday 9th September – the three numbers ‘181’ tell me how long I’ve been shielding – yes, I’m counting!
The past seven months have been relentless, not least for many small UK charities. The varying impacts of COVID-19 and the continued disruptive nature of the pandemic have meant that those who work assiduously have had no choice but to adapt. And now as coronavirus cases escalate, social gatherings of more than six people are illegal – I can’t remember the last time I was in the company of six people – it just doesn’t get any easier!
Charities that are agile, who embrace change and seek to innovate will prevail. But be under no illusion that the road ahead is a straightforward one!
Back in March 2020, the Muscle Help Foundation (MHF) charity took the enormously difficult decision to cease its planned Muscle Dream operations. For those that don’t know, just over 96% of MHF’s beneficiaries are young people and young adults with Duchenne Muscular Dystrophy (DMD) – in terms of the charity’s age spread, services are aimed at the 8-28 group. Over the past 17 years, we have learnt a great deal about the journey of DMD and its impact on families. It was a hard decision but clearly the right one.
Classified as a rare disease, DMD predominantly affects boys. A genetic disease, it causes muscle weakness and muscle wasting. Until recently, DMD children did not often live beyond their teens. Today, improvements in cardiac care and respiratory technologies mean that life expectancy has increased. Many people with DMD now reach their 30s. In the last 18 months, the MHF has lost 5 DMD beneficiaries (not due to COVID-19), average age 17yrs.
Seven months on, we remain resolute and determined to continue our vital work. As a small charity with one full-time head, a few contractors and a handful of amazing volunteers, we had no choice but to be agile – for some, being agile is just a mindset or way of thinking but for me, it’s about the ability to ‘consciously’ shift one’s thoughts when and how the situation requires it. COVID-19 was the catalyst that forced that shift in thinking!
MHF pivoted quickly and re-purposed – our COVID-19 strategy was formed and, like the crosshairs of a rifle, our focus shifted towards a multi-pronged virtual delivery model with one goal in mind – to support our vulnerable community: young people with muscular dystrophy and their families across the UK.
Since COVID-19 began, we’ve checked-in with many of our families – we’ve asked them how they are coping and how the charity can support them moving forwards. Here we are in September – many I know are still feeling very anxious. Many are feeling increasingly isolated and alone. Many, like me, are hardened shielders.
Out of sight, never out of mind
RARE readers will perhaps be familiar with the expression ‘out of sight, out of mind.’ One of our long-standing volunteers is about to embark on a standalone project to help raise awareness of families within our community still shielding. He’s planning on creating a set of short films designed to support the charity’s efforts in educating, engaging and energising the general public. The films will offer a powerful reminder to everyone that it’s OK to ask for help - perhaps the aforementioned expression should actually read ‘out of sight, never out of mind’.
There have been several really useful COVID-19 information updates from some of our charity friends including Action Duchenne, Duchenne UK, Duchenne Family Support Group (DFSG), DMD Pathfinders (now called Pathfinders Neuromuscular Alliance) and Muscular Dystrophy UK – that said, the voices of our community are in my opinion still not being heard.
Muscle dreams to your door!
MHF is now bringing the experiential magic of ‘lockdown’ Muscle Dream interventions directly into people’s homes – it’s certainly a different way of doing things but evaluations evidence the significant joy and hope for beneficiaries and their families. We are edging closer to our goal of realising 657 Muscle Dreams, one for every muscle in the human body.
Pictured below: Watch Christian’s reaction HERE to Keith Lemon’s message as part of his virtual Muscle Dream experience. Afterwards, the charity received the following feedback: “To say [the Muscle Dream experience] raised spirits is an understatement!!”
A virtual reality
MHF recognises the importance of digital – in communicating with stakeholders, we are working hard by, for example, leveraging our social channels more effectively. COVID-19 has amplified our need to identify and recruit our first Digital Marketing Trustee, a key Board appointment, and an exciting opportunity for someone who can bring a senior business perspective, provide thoughtful leadership and input on the role of digital and help build and implement the charity’s future digital vision.
A suite of virtual social events designed for our tribe of Muscle Warriors made up of past beneficiaries, families, volunteers and charity friends including our monthly ‘BIG 657 Quiz Night’ are helping to keep our community connected.
From isolation tips by a nuclear submarine commander, to alleviating stress and anxiety, in addition to conversations about resilience as a family, psychology tips for our powerchair football community and the power of laughter yoga by a certified happiness facilitator, the intention is to help our families feel less isolated and more engaged.
MHF continues to work hard to bring its community together during these
We hear that during lockdown, a number of home improvements were deployed to help bring some shielding serenity into his world. To project outward sunshine, my wife arranged for our ‘front door’ to be painted a joyful yellow. The new shower curtain in my wet room depicting seashells is called ‘the beach hut’. And a sanctuary of calm has been created thanks to various houseplants, each with their own wonderful names! And yes, you may have heard on the proverbial grapevine that my favourite is the Monstera Adansonii, otherwise known as the monkey plant, the mini swiss cheese plant or its actual Patch plant name… Wallace!
Who are The Muscle Help Foundation?
The Muscle Help Foundation (MHF) is a small family-centred national charity delivering transformational interventions in the UK called Muscle Dreams for children and young people (8-28yrs) with Muscular Dystrophy (MD). Michael is the charity’s CEO and is affectionately known as the ‘Chief Muscle Warrior’.
You can read Michael's RARE Inspiration feature in the first ever RARE Revolution Edition HERE (September 2016).
Use the buttons below to find out more and connect:
Bardet-Biedl Syndrome UK (BBS UK) publish booklet supporting children and young people with Bardet-Biedl Syndrome in learning environments across the UK
September sees the release of a “Booklet for Schools and Colleges, supporting children and young people with Bardet-Biedl Syndrome in learning environments across the UK.”
This publication has been produced by Bardet-Biedl Syndrome UK (BBS UK) to promote a greater understanding of BBS and the journey through education from reception to 25. It is aimed at the educational professionals working with children and young people who have BBS, to enable them to more effectively support their students to reach their full potential.
Packed with handy tips, informative clear advice and signposting to existing support agencies, this booklet serves as a tool to help all feel more able to address the multiple challenges that Bardet-Biedl Syndrome can present.
It is estimated that Bardet-Biedl Syndrome (BBS) affects approximately 600 people in the UK. Many GPs, doctors, health professionals and educators will not have come across BBS before and there are many who have not heard of the syndrome.
Tonia goes on to explain that ''BBS UK is committed to creating resources to help schools & colleges meet the needs of their pupils with this condition, to give them every opportunity and the right support to achieve the future they are entitled to and are capable of achieving.”
It has been reported that more than a third (37%) of parent carers say their disabled child has missed school or college because the staff or services are not available or trained to support them (Disability & Education UK 2019 (ONS))
"I actually had an emergency statement review meeting at the school today and was able to use examples from it in my meeting: This is a great document. Even being the parent of a BBS child and knowing about the condition there were things which never occurred to us. We feel that this will be a great source of reference to schools, childcare providers and anyone else who is in any way responsible for the care of a child or young adult with BBS." Parent of a young person with BBS.
Each booklet has a fold out passport where the student can express their condition, individual requirements, and interests to support their journey through education. The printed booklets will be distributed to parents of children with BBS during the autumn term, for them to pass on to their child’s teacher and support team. The booklet is also available to download using the buttons below via website or get in touch via email quoting Education Booklet to receive a print copy.
Who are Bardet-Biedl Syndrome UK (BBS UK)?
Bardet-Biedl Syndrome UK was established in 1993 and is the only registered charity supporting people with Bardet-Biedl Syndrome, their families, and carers in the UK. Bardet-Biedl Syndrome (BBS) is a rare, recessively inherited genetic disorder which affects approximately 1 in 100,000 babies born. The aims of the charity are ‘to preserve and protect the health and promote the welfare of persons who have BBS and to advance the education of the medical and educational professionals and the general public on the subject of BBS’.
Dr. Nuria Carrillo joins the Staff at Top Patient Advocacy organization for GNE Myopathy
The Neuromuscular Disease Foundation was founded in 2006 by Gila Michael. The charity with a mission to enhance the quality of the lives of people living with GNE Myopathy (also known as HIBM) through advocacy, education, outreach and funding critical research focused on treatments and a cure have come a long way since they started their journey with many a milestone and achievements in clinical research and advocacy behind them and we are thrilled to share this exciting news as the Neuromuscular Disease Foundation (NDF) CEO Lalé Welsh announces that Dr. Nuria Carrillo has formally joined the NDF staff as its Chief Medical Officer.
After a decade as a physician-scientist at the National Institutes of Health (NIH), she is joining the world's leading advocacy group funding the search for treatments for GNE Myopathy (GNEM). Dr. Carrillo, who is board-certified in pediatrics and genetics, led the program at NIH to understand the progression of GNEM, as well as to advance promising therapies into clinical trials through multidisciplinary collaborations. Ms. Welsh stated that “the funding for this position was made possible, in part, by the generosity of a donor who has graciously created a ‘challenge match fund’ to help defray the cost of her salary for the next two years''.
Dr. Carrillo said she is looking forward to becoming part of the non-profit foundation that is driven by passion for improving the lives of patients with this rare disease. “Once I was confident the clinical trial for a potential treatment which I helped oversee at NIH would continue as planned, I felt comfortable moving on to another stage in my life.” In her new role, Dr. Carrillo will continue to help patients with GNE myopathy from a different, but crucially important platform.
About GNE Myopathy (also known as HIBM): GNEM is an adult-onset, rare, genetic, distal muscle disease affecting people of all backgrounds to find out more information click the learn more button below.
The Neuromuscular Disease Foundation is a public charity and the world’s leading foundation funding research for a cure for GNEM and is actively seeking biotech partners. Use the buttons below to learn more about NDF’s scientific progress and development objectives or to contact Pete Jackson.
Our Editor, Nicola Miller explores the grief people can feel before the life of a loved one has ended and how we need to work harder as a community to ensure we support families and individuals at all stages of their very personal and unique grief journey
Death—the deprivation of life, is arguably the biggest certainty in life, for without death there has been no life. It is therefore something that every human, and indeed every living organism will eventually experience without exception. For most of us, that means that in our lives, we too, will experience the death of another and face the feelings of bereavement in varying degrees.
Being bereaved is no one-size-fits all, it may be a fleeting period of sadness or it may plunge us into untold grief resulting in a lasting trauma, and it can be every degree in-between. Very little compares to the experience of the permanent loss of a loved one. But there is a reality that we often feel uncomfortable acknowledging, unable to express openly with our friends or family or even unable to accept ourselves, and that is when the process of bereavement starts before the life of a loved one has ended, or when we bereave the loss of the life we planned.
But the show must go on—we can still hold our love one’s hand, and look into their eyes, and life goes on, so what right do we have to grieve?
We dry our tears, suck down our emotions and fear and (to share a wonderful mantra from the incredible Dan Shockley) we forge on with purpose with all our might.
The truth is though, bereavement and grief are not reserved for the deceased, the pain of loss can and often does start earlier, it can be just as pain filled and can span many angst filled years. It is important that we acknowledge it for ourselves to allow us to process these feelings and for those around us to understand this, so that support can be found where it is lacking. Reframing our understanding of this allows us to see this as a natural process, validating our emotions rather than feeling them to be disrespectful, self-indulgent, or lacking character or strength.
And this is no less profound for loved ones than the individual. As parents we see the life we dreamed of parenting our beloved child or children disappear like smoke as we do with a partner, parent or friend.
All this is not so say that these lives are less—certainly, they are not—these lives will be filled with wonder and joy, but there is, without question, a process that needs to be respected. It is natural to experience a complex range of emotions—disappointment, anger, fear, jealousy (of others for whom life will carry on without apparent hiccup) and devastation to name a few. Acknowledging these emotions and allowing ourselves the time to grieve the loss of the life in our dreams and imagination is an important process.
For on the other side of this begins the reimagination. We adjust our expectations; we find new dreams and we get back to living our fullest life.
The more we feel as a community that we can have conversations about grief and bereavement, in its most complete definition of the word, the more we can lay the structure of support to help one another on our own unique journey through this. Then perhaps no one will suffer in silence and we can remove that internal conflict with ourselves around the validity of our emotions, and we can help each other shoulder the burden together until brighter skies lay ahead.
Bereavement is a part of life and in the world of rare and chronic disease it can become a looming presence. Members of our rare community sometimes speak of not just the bereavement and grief of losing someone through death but also the bereavement and grief that a diagnosis and health condition can bring, sometimes before a life may have even truly begun.
In each of our editions and through our blog posts we have heard so many deeply moving stories of loss and our rare community have spoken about the lack of meaningful and enduring support when they have lost someone, this is not solely the loss of someone with a rare condition but anyone close to them. It sometimes feels that as a society we still have a long way to go in learning how to have a conversation and really support families through their bereavement and grief.
These stories and conversations inspired us to reach out to our rare community asking families who have suffered the loss of a family member, to complete a short survey. We have compiled their responses to create this blog and a future resource—offering people guidance on how to best support grieving families and how to start a conversation about bereavement.
In this blog we explore the recurring themes from those that took part in the survey.
For anyone that has suffered a bereavement, losing a person who is close to us can be emotionally devastating and it is natural to go through a range of physical and emotional responses. Whilst families recognised that people expected them to move on, they felt that people should be aware that there is no time limit on grief and how people process and deal with a bereavement is unique to the individual. Trying to rush someone to move on because you are uncomfortable with their grief or with how they are grieving is unfair, unrealistic and puts additional stress on them.
Whilst many families felt supported in the first few weeks or until the funeral, they then felt in the weeks, months, and years afterwards their grief was forgotten, and their family member had been forgotten too. It is important to the families that the person is not forgotten, and that people continue to talk about them, remembering them for who they were, not just in illness and in death.
There were many comments how people tend to avoid bereaved families and/or talk about the person who has died. This might have been out of fear of upsetting them or their own discomfort of not knowing what to say. However, avoidance causes a huge amount of hurt and upset. One respondent said: “… Having people at work turn and walk in the opposite direction because they don’t know what to say hurts.” Whilst another explains how upsetting it was that, “People were afraid to bring up my son or talk about him, it was as if he never existed.”
Take the lead from the person who is grieving, remember you don’t need to fix them, find solutions, or say the right thing, instead just show up, check-in and listen. It can be as simple as asking, how can you help?
A word of caution from one individual was that:
“If you say you’re going to help, follow through on your commitment, as the bereaved parent is already suffering from so much disappointment, loss and abandonment.”
In contrast to avoidance, others spoke of people becoming too involved. For example, some people who had not really been on the scene beforehand and would then, “… repeatedly turn up with large quantities of food and just expected to come in, cook dinner, take up the evening as if they were the adult and I was a child. I think they felt a need to be needed… and expected to stay there all evening”.
Some found that other family members or outsiders tried to get involved in funeral plans and questioned them for their choices. This was particularly hard to deal with during an already emotional and difficult period.
Small gestures go a long way and whether it was from a stranger or a close friend, a simple smile or remembering an important date, can really help someone who is grieving get through their day.
One person retold how someone they didn’t know very well sent a card with the message “to walk slowly through grief” and how this really helped them to manage their own expectations about getting over the death. They went on to say that years later another helpful comment was, “To try and accept things as they are, not how you’d like them to be”.
One mother described how when friends of her son would occasionally stop by and visit and when her niece sent her a Mother’s Day card, how much these small gestures meant to her.
Another person who lost his wife described how the owner of he and his wife’s favourite restaurant gave him a hug when he next saw him after his wife had died. He told him how she had always been his favourite customer and what lovely memories he had of her. He went on to say he was ready to talk to him about her anytime–now, next week, in a year or in 10 years, just say and we will meet up. The restaurant owner stayed true to his word.
Many of the respondents felt having a strong support network can help. This was through family, friends, community, faith, and support groups and for some it was counselling. Others found taking in nature or holding a celebration of their loved one’s life really helped.
Responses were wide and varied, with some unable to find any support groups, other did not look for one. There were incredibly positive experiences, with some finding these groups to be a real life-line. However, others had negative experiences and were very sceptical and mistrusting of some of these groups.
I went to a bereavement group for parents who have lost children. But it was too painful, and I didn’t connect with parents who were angry. The group didn’t offer hope.
I tried but found the tone of support groups too sentimental. Too syrupy. They talked of ‘passing’ rather than dying, ‘our loved one’ and so on. They talked of the people who had died as perfect, flawless beings. I couldn’t join in with that.
There were many ways that people channelled their energy with some finding that getting back to nature or taking time to themselves with a creative outlet really helped them. For some this involved creating memory books and others a hobby such as painting, quilting or photography. Many people felt it was not a time to rush in and make big changes to your life but instead to give yourself time and set yourself smaller daily challenges and tasks.
Holding a celebration of life event helped one parent to bring some positive energy and honour their child with friends and family. Asking people to dress colourfully and share stories including asking people to imagine their son on an adventure and write it down enabled people to come together and celebrate his life.
Some families were driven to start a fund, charity, or foundation in the person’s name helping them to feel proactive and make something positive come out of their loss by helping others.
Bereavement is an individual journey and it takes as long as it takes.
The overwhelming response is to grieve in your own time and in your own way. Be kind to yourself. Keep talking whether that is to friends and family or finding professional support.
Families felt that when people acknowledged the loss it helped. Just showing up letting them grieve and letting them talk, whether about their grief, the person they have lost or generally chatting was helpful.
Many commented on how distressful it was having their grief being dismissed or when people used platitudes, this caused a huge amount of distress, some of the platitudes that were given in the survey included; gone to a better place, heaven needed an angel and they had a good innings.
No matter how well-meaning people may think they are being, glib comments can clearly cut deeply especially for someone who is already feeling vulnerable and grieving. Ask yourself has your advice been sought? Before giving unwarranted advice and making comments, stop and think, no matter how well-meaning we are we cannot walk in someone else’s grieving shoes and fully understand how they are feeling.
If you are grieving then let people know what you need practically in terms of company and support. Don't be afraid to reach out and ask for help or to say "no" to someone if their suggestions or support is not right for you.
We would like to thank everyone who took part in the survey, your advice and experience is invaluable for helping others.
Rare Revolution Editor