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
please use the buttons 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.
Rare Revolution Editor