 The RARE Rev culture by co-founder and creative director, Nicola Miller |
|
If you have followed our RARE Revolution journey from the start, you will know that just like many who work in the field of rare disease, it wasn’t our Plan A. Both myself and Rebecca were busy in our respective careers when rare disease showed up and knocked us onto another path.
|
Nicola co-founder and creative director and Rebecca CEO
|
For any parent, finding or keeping that dream job, while allowing you to be the parent you want to be for your children can be challenging. Then add in the extra demands of raising a child or children with complex health needs and it doesn’t take a scientist to work out that on paper you start to look less favourable than other suitably qualified candidates. From attending multiple medical appointments, therapy sessions, lengthy school meetings and ever-changing health status to periods of illness—no two days are the same. The impact of this on your ability to perform your role and your overall career prospects can be significant. It certainly was in my case. (Ref RARE Employment, Issue 009, Autumn 2018. This wasn’t in the plan)
Of course, this is not just a barrier to career success for parents. It poses a challenge for young people living with rare and complex health conditions who are looking to enter the world of work, and those working hard to maintain a career. Your career progression ceiling may well feel determined by perceived limitations imposed by health.
Our RARE Rev dream was built on overthrowing this barrier. We created our own business model, on our terms which allows our rare families to thrive while we enjoy a rewarding career in a field we love, and where we can make a difference every day.
This is an ethos that runs through the veins of our growing organisation today, and four years in we are going from strength to strength. Providing opportunities and a workplace culture that is fully inclusive is fundamental to our operations and indeed success. To date we have a passionate and motivated team of six, and all have a close and personal connection with rare disease. This allows us to build our brand rooted in our personal connection and strong desire to serve a global community that our team are personally invested in. As a group we represent the voice of patients, care-givers, families and advocates and this deeply enriches our work.
From an employer’s perspective it isn’t without some challenge. This means managing deadlines and planning workflow capacity with an ‘expect the unexpected’ attitude. At any given moment one of our team could be facing a health crisis or that of their loved one, and this means that we need to be able to think and act in an agile way to respond to this.
This is only possible with a strong and committed team, who will without hesitation, swoop in to lend a hand when needed. We are blessed to have such a talented workforce who can turn their hand to almost anything we throw at them, but that is not by default. Recruiting the right people is key. Our recruitment process is driven by identifying people who will strengthen our work family unit both in the varied skills they can bring, but also in their attitude, resilience, and empathy for others around them.
We work as a team and to coin a popular phase at the moment, “No troll left behind”—in short we work together to get the whole team over the finish line every day, week and month. Our challenges are shared, and our successes are all the sweeter for it!
It is reported that Albert Einstein said this, although I believe the jury is still out on whether he actually did, but regardless it’s a saying I love.
Everyone is a genius. But if you judge a fish by its ability to climb a tree, it will live its whole life believing that it is stupid.
The simple truth is, there is no `one size fits all` model for employment. Furthermore, life is an ever-moving juggernaut, so what works for a valued team member today may not do so always. As an employer it is your responsibility to find the zone of genius in each member of your team, so that the work they are doing allows them to shine and be the best they can be. After all, aren’t we all better at doing things that excite us?
As an employer we get immense satisfaction from seeing our team, individually and together, rise-up and accomplish great things in the name of RARE Revolution!
In return, our commitment to our team is one of endless support, appreciation and reassurance that if and when their personal rare road ahead gets rocky, they can count on us to be there to help them through it.
What started out as vision of two sisters has become what feels like a little bit of magic and it is our absolute privilege to be steering this most incredible team towards our shared future vision.
#RARERevDreamTeam
So, if I could offer out any advice for employers, I would simply say; see no barriers, look within, and live your vision—a company manifesto means nothing if you can’t deliver it in practice and that is the true test of a company’s value and worth.
Achieving an inclusive workplace culture fit for our rare disease community takes passion and unwavering commitment to this when tested, but with steadfast belief, what lays on the other side is life affirming and enriching for all.
As part of our ongoing commitment to RARE Employment we are working on a very special initiative to help support our youth community into the workplace. Watch this space for breaking news coming soon…
0 Comments
We had the pleasure of chatting with Inspector David Singleton for our RARE Employment campaign which aims to highlight and address some of the issues people living with a rare disease or disability might encounter in the world of employment. David shares his coping strategies for managing his health and a career change in the Metropolitan Police after being diagnosed in his late twenties with the rare genetic condition: Adrenomyeloneuropathy (AMN). AMN is an 'inherited condition that affects the spinal cord and is a form of X-linked adrenoleukodystrophy.
For more information about the condition please go to The Genetic and Rare Diseases Information Center using the button below.
|
David Singleton -Inspector in charge of operational support, events and business |
My dad was in the police for over thirty years and my mum was as well for a shorter time in the seventies. It was something I always wanted to do it seemed like an exciting job with lots of different opportunities and I wanted to make a difference, which you can do in this job. I joined in 2006 when I was 24 and now my role is an inspector in charge of operational support, events and business.
My team supports the operational officers on a BCU, which is a command unit in the Metropolitan Police (Met). We make sure there are the right resources and right number of people on the right shifts and if there are organised events we make sure we have the extra resources and equipment required. We carry out the background work for local and bigger events in London making sure everything is safe and secure, which is quite a big logistical task when you are still managing all the day to day tasks - it can be a bit of a juggling act.
My team supports the operational officers on a BCU, which is a command unit in the Metropolitan Police (Met). We make sure there are the right resources and right number of people on the right shifts and if there are organised events we make sure we have the extra resources and equipment required. We carry out the background work for local and bigger events in London making sure everything is safe and secure, which is quite a big logistical task when you are still managing all the day to day tasks - it can be a bit of a juggling act.
I had to change my focus quite a lot. I was put in an office-based role and I hadn’t really thought about promotion much at that point in my career but this changed and I had to start thinking about what I could do now
Yes, when I started having symptoms in my late 20’s I hadn’t been in the police for that long, I was a neighbourhood officer so I would be out on patrol every day, riding a bike, driving a car or walking around. I was still fairly early on in my career. I did have aspirations, I was interested in the armed response side of things so as the symptoms progressed and it became clear that I would be taken off front line duties (which is what happens when you aren’t fully physically fit), I had to change my focus quite a lot. I was put in an office-based role and I hadn’t really thought about promotion much at that point in my career, but this changed and I had to start thinking about what I could do now.
It was quite difficult re adjusting to the different role as I liked being outside and being independent and proactive in my work. Being taken away from that, and put straight into an office role, was a big adjustment. Having my driving permit taken away and seeing my team go out without me were particularly difficult. I found the time of the 2011 London riots a difficult time. During the riots I was at the police rehab centre, so there I was having a massage, whilst watching where I work on fire and in chaos! Although dangerous and scary that was why I joined the police, because I wanted to try and stop these situations so it was quite emotional not to be helping in the efforts.
I didn’t know I had AMN until my symptoms started in adulthood when I started tripping over randomly, so I was dealing with a new and worrying diagnosis and at the same time a shift in my career path. However, I am lucky that there is a vast variety of jobs in the Met and that I could still stay in my chosen career.
It was quite difficult re adjusting to the different role as I liked being outside and being independent and proactive in my work. Being taken away from that, and put straight into an office role, was a big adjustment. Having my driving permit taken away and seeing my team go out without me were particularly difficult. I found the time of the 2011 London riots a difficult time. During the riots I was at the police rehab centre, so there I was having a massage, whilst watching where I work on fire and in chaos! Although dangerous and scary that was why I joined the police, because I wanted to try and stop these situations so it was quite emotional not to be helping in the efforts.
I didn’t know I had AMN until my symptoms started in adulthood when I started tripping over randomly, so I was dealing with a new and worrying diagnosis and at the same time a shift in my career path. However, I am lucky that there is a vast variety of jobs in the Met and that I could still stay in my chosen career.
Personally, I have always had really good line managers and have always felt supported, especially during the time when my diagnosis was uncertain. The Met gave me the time and space to adapt when I was first struggling with walking - there was no pressure,
Inevitably the opportunities are less in the job I do because a lot of it requires a physical element but although it closed some doors it opened up others that I potentially wouldn’t have thought about before. There has been positives and negatives but being proactive in saying what I wanted helped them to provide support to achieve this.
Inevitably the opportunities are less in the job I do because a lot of it requires a physical element but although it closed some doors it opened up others that I potentially wouldn’t have thought about before. There has been positives and negatives but being proactive in saying what I wanted helped them to provide support to achieve this.
It's all about reasonable adjustments, don’t rule yourself out, go for the job and say what I need is ....
From my experience when there is nothing wrong with you, you feel invincible and asking for special things can be viewed as a sign of weakness, but actually when you do need something there is no point suffering in silence, you will do a better job in the long run if you ask for help. It takes a while to change that mindset but it is for the best.
Managers might be really supportive and want the best for you, but they might not know how to, so help them understand by opening up about what is best for you. It's all about reasonable adjustments, don’t rule yourself out, go for the job and say what I need is .... There are laws in place for these areas and it is reasonable to ask for a special piece of equipment that will mean you can make just as positive a contribution to the work place as anyone else.
For me it was important to continue working for my independence and mental health, this won't be possible for everyone but don't be put off too soon, stay positive and don’t be afraid to ask for support or adjustments.
Managers might be really supportive and want the best for you, but they might not know how to, so help them understand by opening up about what is best for you. It's all about reasonable adjustments, don’t rule yourself out, go for the job and say what I need is .... There are laws in place for these areas and it is reasonable to ask for a special piece of equipment that will mean you can make just as positive a contribution to the work place as anyone else.
For me it was important to continue working for my independence and mental health, this won't be possible for everyone but don't be put off too soon, stay positive and don’t be afraid to ask for support or adjustments.
If you are quite young, school leaving age, there is a volunteer police cadet program which you can join. You might go and help out at events and it gives you a taster of what to expect.
Don’t assume that having a condition rule's you out from front line policing there are things you can do; you don’t have to be in perfect health and they want a representative police force which includes disabilities. If your condition does mean you can't join as a front line officer but you really want a career in the police force there lots of great roles that get involved in the nuts and bolts of police work.
Don’t assume that having a condition rule's you out from front line policing there are things you can do; you don’t have to be in perfect health and they want a representative police force which includes disabilities. If your condition does mean you can't join as a front line officer but you really want a career in the police force there lots of great roles that get involved in the nuts and bolts of police work.
Click the button below to find out more about volunteer programs
I have felt awkward about this, more at the start and I definitely tried to cover up my symptoms early on. I didn’t want it to affect me at work and I didn't want to tell anyone until I knew what it was but that was probably a bad idea as I could have got myself hurt, I remember riding my bike around at work and my balance was off, so there came a point when I had to accept that there was something going on.
In terms of time off I have always felt supported, I have never been one to take time off for no good reason and I think it is important to tell your managers when you have appointments. I am part of a drugs trial at the moment and we do get disability related leave which is essentially a day off that isn’t a sick day. I do try and make my appointments at the beginning of the day or at the end if I have a choice rather than slap bang in the middle so there is a bit of compromise and I use my common sense to make it work.
I have fallen into the trap of "Ok I have been out for a few hours, I will get the laptop out and do a load of work tonight" because I felt guilty that I wasn't doing enough. But I have learned that this isn't a healthy habit to get into. Give yourself a bit of a break, you aren’t missing work because you want to skive off, it's for your health and ultimately, in the long run, you are much better off being healthier than you are spending those extra few hours working. In my role now, it is easier as I do have flexibility in my hours.
In terms of time off I have always felt supported, I have never been one to take time off for no good reason and I think it is important to tell your managers when you have appointments. I am part of a drugs trial at the moment and we do get disability related leave which is essentially a day off that isn’t a sick day. I do try and make my appointments at the beginning of the day or at the end if I have a choice rather than slap bang in the middle so there is a bit of compromise and I use my common sense to make it work.
I have fallen into the trap of "Ok I have been out for a few hours, I will get the laptop out and do a load of work tonight" because I felt guilty that I wasn't doing enough. But I have learned that this isn't a healthy habit to get into. Give yourself a bit of a break, you aren’t missing work because you want to skive off, it's for your health and ultimately, in the long run, you are much better off being healthier than you are spending those extra few hours working. In my role now, it is easier as I do have flexibility in my hours.
Yes, so historically the police service hasn’t had much working from home just because of the nature of the work, but having this forced upon us has actually showed that you can be productive at home and run a team effectively. This experience has proven it doesn’t need to be seen as a negative, working from home is not a day off you can still be productive and in fact sometimes be more productive than you can in the office.
I do miss being in the office a bit, we use Microsoft teams which helps keep us connected, but I do miss the social interactions. If you are going to take some positives out of coronavirus. I think I have certainly benefited from it making working from home more acceptable.
I do miss being in the office a bit, we use Microsoft teams which helps keep us connected, but I do miss the social interactions. If you are going to take some positives out of coronavirus. I think I have certainly benefited from it making working from home more acceptable.
In terms of my condition it is a bit different as I didn’t know I had it when I was younger, if I had I would say, don’t see it as something that will stop you. Everyone has skills and something that they can bring to the work place, actually dealing with a rare condition probably makes you a bit more resilient as a person and that is a positive attribute.
If you are interested in something early on, even before you are ready to make a career move, speak to people in that world. If you can do volunteer work or anything that shows you are willing. It might be that you volunteer a couple of days and you think actually that is not for me at all, then you know that before you put yourself through the whole recruitment process. Obviously, that is not possible for everything, if you want to be a pilot you can’t ask "can I have a go on your plane please?", but there are still people you can speak to.
If you are interested in something early on, even before you are ready to make a career move, speak to people in that world. If you can do volunteer work or anything that shows you are willing. It might be that you volunteer a couple of days and you think actually that is not for me at all, then you know that before you put yourself through the whole recruitment process. Obviously, that is not possible for everything, if you want to be a pilot you can’t ask "can I have a go on your plane please?", but there are still people you can speak to.
If you are going to be productive at work you have got to look after yourself. If you need an appointment go and have it. Don’t hold of looking after yourself because ultimately your health is the most important thing. Don’t be afraid to go to your line management if there is an issue, they are there to help, it is difficult because you don’t want to feel as if you are causing a nuisance but actually you are not and it is better to get things out in the open and sorted as early as you can. I know its easier said than done, look after yourself, eat well, sleep well. It is different for everyone but you have to do what makes you happy and what makes you feel good about yourself and have a bit of time away from work.
David and his two sons
For more RARE Employee Advice and Top Tips ....
 | Landing your dream job when living with a rare disease, or with care-giver responsibilities can be daunting and arduous. Our RARE Revolutionaries community have a wealth of experience to share on this matter, and here are their top tips for getting and keeping that dream role. 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. Click on the image for the PDF |
READ, LEARN, SAVE, PRINT & SHARE
For more insights into employment and rare disease why not check out Professional careers and rare disease - finding a balance that works by David Rose
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."
“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
through this turbulent time.
Mary Frances Harmon, Senior Vice President, Corporate Relations, PTC Therapeutics
Programs awarded funding as part of the 2020 STRIVE Awards are:
|
Argentina: Associacion Distrofia Muscular will develop an online platform for the neuromuscular diseases community across Argentina, which aims to help improve the quality of life of those affected by Duchenne by increasing social connections and providing accurate information to support users of the platform Russia: The GAOORDI patient organisation in Russia will provide emotional, practical and educational support to patients with Duchenne through the ‘Not Alone’ program, which aims to support families adjusting to life with Duchenne and improve the quality of home care that parents and caregivers are able to provide |
Hungary: The Healing Goodwill Foundation will support Duchenne patients and their families in Hungary by hosting a series of events throughout the year to connect Duchenne patients and carers with healthcare professionals, as well as provide boys with Duchenne the opportunity for peer-to-peer interaction through a range of fun activities United States: Cure Rare Disease will develop a Student Education & Life Science Immersion Program in the U.S. to provide students with correct guidance and tools to become Duchenne Ambassadors in their schools and the wider community |
“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/.
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
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.
Investors & Media:
Jane Baj
+1 (908) 912-9167
jbaj@ptcbio.com
Patient Organizations:
Mary Frances Harmon
+1 (908) 912-9205 or (866) 282-5873
mharmon@ptcbio.com
SCOTTISH BASED LIVER CHARITY PBC FOUNDATION CELEBRATES SUCCESS OF ITS FIRST GLOBAL ONLINE EVENT
28/9/2020
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.
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 Thain, founder and CEO of the PBC Foundation
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 collette@pbcfoundation.org.uk
07714 756057 Founder & patient
Robert Mitchell-Thain robert@pbcfoundation.org.uk
07894238413 CEO & Head of Education and Development
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 collette@pbcfoundation.org.uk
07714 756057 Founder & patient
Robert Mitchell-Thain robert@pbcfoundation.org.uk
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
24/9/2020
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.
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 Behike was eventually diagnosed with CMT at the age of fifty five..
|
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.
|
Determined to find answers Julianna's mother, a neurologist, was instrumental in her daughters diagnosis
|
|
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.
|
Despite multiple surgeries Jaden is about to embark on his freshman year, and he isn't letting his rare CMT 1E diagnosis hold him back.
|
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.
...often times with CMT there is some family history of neuropathy that may provide a clue to the diagnosis | “However, often times with CMT there is some family history of neuropathy that may provide a clue to the diagnosis but, the absence of a family history does not preclude the possibility of CMT. Diagnosis of the disease is improving but often it takes many appointments over many years to have a neurologist reach a final diagnosis. |
“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.
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.
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.
Alan Thomas, Founder Ataxia and Me
| Ataxia could be the most serious condition you have never heard of. So, What is Ataxia ? Ataxia is a rare disease / condition of the Cerebellum, causing problems with the lack of coordination, lack of balance and difficulties with speech. |  |
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
Alan Thomas, Founder Ataxia and Me
"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:
please use the buttons below:
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
RARE Employment.
RARE Employment.
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 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.
|
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" David (left) with Alan Thomas (Ataxia and Me) who were both part of the "I am Number Seventeen" campaign recognising rare disease influencers.
|
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.
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:
For more insights into employment and rare disease why not check out our
RARE employment Q & A with Inspector David Singleton
RARE employment Q & A with Inspector David Singleton
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.
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!
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!
Michael McGrath, Founder & CEO, Muscle Help Foundation
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’.
|
If RARE readers were invited to think about giving a message to others who are still having to shield across the country, I wonder how those messages might read? |
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.
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.
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.
| The launch of MHF’s bi-weekly ‘In Conversation With’ online broadcast series offers another community engagement platform – since May, different guests and personalities are now being invited to share their stories and insights on a variety of topics. Pictured right: Harriet Brady-Jackson’s ‘Living Life with Laughter’ takes place on Friday 30th October 2020 at 4pm – streamed ‘live’ on MHF’s Facebook & YouTube channels, the conversation is also recorded allowing anyone to watch it at their convenience. |  |
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.
Michael McGrath, Founder & CEO, Muscle Help Foundation
| We reached out to some of our incredible Muscle Warrior Volunteers around the country. We invited them to create snappy video messages that uplift, burst with positivity, messages that inspire but also amplify the charity’s STRONGER TOGETHER ethos, more important now than ever before. Click HERE to watch some of these short .60secs films – happy viewing! | |
MHF continues to work hard to bring its community together during these
challenging times.
challenging times.
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:
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:
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.
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 Hymers Clinical lead for BBS UK
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''.
As soon as I became aware that Dr. Carrillo was leaving her post at the NIH, our entire organisation was committed to doing everything to have her stay in the GNEM community and partner with us. Having one of the world’s foremost experts on GNEM and clinical trials want to join our team is a remarkable triumph for both NDF and for the patients we serve |
Her vision and experience coupled with her dedication to those suffering with GNE Myopathy worldwide make her ideally suited for her new position. I speak for all of us associated with NDF when I say that we could not be more excited that she will now help lead our efforts toward treating, and hopefully curing, this terrible disease |
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.
NDF is well-positioned to catalyse the development of promising therapies and create programs that will benefit this population now and into the future and the NDF has a great team with a relentless spirit – just what is needed to conquer this insidious disease |
|
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.
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.