For this week’s #ClientSpotlight, we are excited to feature the Willms family! During COVID-19, parents Josh and Alisha have been keeping busy by creating a more accessible bathroom for their son Emmett to use and grow into. They built a roll-in shower, and an accessible sink to give Emmett more independence and safety in the bathroom.
Their main focus is for Emmett to be independent, and to do the things he wants and needs to do without limitations. MDC was happy to provide them the support they needed to make this all possible.
The Willms family is also spending lots of time outside to enjoy the spring weather. They have been going on lots of walks together and even planted a garden. On rainy days, Emmett has been using his imagination to turn the dining room table into a pirate ship. He uses his stuffed animals as his pirate crew and the whole family searches the house for treasures together.
Thank you for sharing with us, Willms family! We love hearing your stories about how you are keeping busy and how you are using your imagination to have fun!
Our Systems Navigation program is designed to support clients in all areas of their non-medical needs including: funding equipment to improve daily life, providing emotional and educational support, and ensuring access to vital resources and support systems.
We understand that clients want to live life on their own terms. Our program provides them with the right resources to build confidence, and to fulfill their dreams, while ensuring they have increased independence.
For this week’s #ClientSpotlight, we are proud to feature Ken M. Kramer, QC. Ken is the Principal & Senior Associate Counsel for KMK Law, and was also the first person with a neuromuscular disorder to lead Muscular Dystrophy Canada as Chair of the Board of Directors.
Ken is an advocate for accessibility and inclusion both in the province of British Columbia and nationwide through various initiatives.
Ken has, and continues to work closely with the media, lawyers across the country, disability groups in British Columbia, senior members with the Ministry of Health, and with the government. A big part of his work is focused on advocacy and helping to develop important policies associated with healthcare and individuals living with disabilities.
“Advocating for people with disabilities is not just something I do as a part of my career—but because I believe in advocacy and promoting inclusion,” says Ken. “I am a strong advocate for myself, and there are others like me. But some don’t have the ability to speak up, so a lot of the things I do are for them.”
Are you interested in advocating in your own community but you’re not sure where to start? Ken shares some advice on how to get started:
“It has to be something that you genuinely believe in,” says Ken “Something you can articulate your thoughts around. It doesn’t need to be sitting with ministers or premiers, but it can result in other methods, like getting associated with an organization that shares your vision or meeting with your MLA—or even writing an opinion piece for your local paper. Everything has an impact.”
Another piece of advice that Ken suggests is to think strategically. “Try not to complain when you provide an issue,” says Ken. “But also come up with a solution. Come up with different options. Find a solution that also has an economic advantage.”
Thank you, Ken, for continuing to use your voice to promote accessibility and inclusion. We can’t wait to see what you will do next to help support individuals living with disabilities.
At MDC, advocacy plays an incredibly important role in delivering our mission. Learn more about the advocacy work that MDC currently supports, and how you can get involved.
Muscular Dystrophy Canada is a volunteer-driven organization. We rely on dedicated, enthusiastic, diverse and dynamic people to help us meet our mission – from clients to family members, community supporters to like-minded organizations, and healthcare professionals to Fire Fighters and beyond.
All of our volunteers are key partners in the delivery of MDC’s support programs, services, fundraising efforts, and governance. We want to thank ALL of our wonderful volunteers for everything they do, and for believing in our mission.
For National Volunteer Week (April 19–25), we highlighted a few of our extraordinary volunteers. Read their profiles below:
Given the recent updates on COVID-19, Muscular Dystrophy Canada has implemented a work from home policy, therefore, effective immediately all MDC offices are closed.
Our staff remain available via email and telephone and will continue to serve our clients, volunteers, donors and other key stakeholders.
During this difficult time, we remind everyone that social distancing is a critical component of reducing the potential harm.
In the coming days, MDC will continue to provide updates as we strive to implement new online platforms and solutions to support our community.
We recommend that everyone continue to be informed by credible sources like the World Health Organization, the Public Health Agency of Canada and provincial health agencies.
Thank you for your continued support and cooperation.
Barbara Stead-Coyle CEO
COVID-19, is a coronavirus, that is known to cause respiratory infections in individuals who contract the virus. Symptoms include dry cough, fever, tiredness and difficulty breathing, and may take up to 14 days to appear after exposure. Since people with neuromuscular disorders already experience respiratory challenges, it is understandable that you would have concerns and questions about COVID-19.
How to prevent infections
The steps outlined below are good practice, at all times, to inhibit the spread of viruses:
Wash your hands thoroughly and regularly with soap and water.
Sneeze and cough into your sleeve; when using tissues, immediately put them in the trash and wash your hands.
Avoid touching your eyes, nose or mouth.
Regularly clean commonly used surfaces and devices you touch.
Avoid crowded spaces and close contact with anyone that has a fever or cough.
How you can prepare
You should always have a plan in place should you, or a loved one, become ill.
You should have:
A list containing the names of your doctors, clinic, pharmacy and insurance company along with contact information.
A list of all your medications and the doses.
Enough medication for one to two weeks in case you cannot get to the pharmacy to refill your prescriptions.
Extra supplies like, hand sanitizers and soap to wash your hands.
How to avoid disruptions to care services for individuals with neuromuscular disorders
Screen: Have a sign posted at the entrance of your home for your caregivers and attendants to self-screen and review the precautionary measures they can take while in your home.
Greetings: Have your caregivers and attendants say hello without touching (e.g., a wave hello)
Wash Hands: Have your caregivers and attendants wash their hands for at least 20 seconds with soap carefully and repeatedly (throughout the day).
Sanitize: Have your caregivers and attendants use hand sanitizer (at least 60% alcohol-based) when they arrive at your home and each time prior to touching or feeding you.
Disinfect: Have your caregivers and attendants clean, sanitize and disinfect the surfaces that are touched in your and use disinfecting wipes on items that are frequently touched (e.g., cell phones, doorknobs, your wheelchair controls, lifting device controls, and remote controls). Make this convenient by having wipes near the items that should be regularly cleaned.
Back Up: If your attendant becomes sick, ask them to seek medical care. Ensure you have sufficient back up attendants in case your caregivers and regular attendants cannot work; your attendants may not be able to work because either they get sick or they need to take care of a family member who is. You will still need assistance, so make sure you have someone who can provide it.
What to do if you think you might have the infection
Muscular Dystrophy Canada is thankful for the invitation to attend the PMPRB Consultation meeting in Ottawa on December 10, 2019 and for the opportunity to respond to the Draft Guidelines Consultation.
Muscular Dystrophy Canada leads Canada’s neuromuscular community as the central axis in a complex health services, policy, and information ecosystem that surrounds and support our core concern: Canadians with neuromuscular disorders. Muscular Dystrophy is the umbrella name used to cover the 160-plus known neuromuscular disorders today. While the disorders we represent are individually rare, they are collectively common, impacting more than 50,000 Canadians from coast to coast. These disorders weaken the body’s muscles, or the communication between the nerves and the muscles. The causes, symptoms, age of onset, severity and progression vary depending on the individual and the exact diagnosis. For many individuals, the disorder is fatal. Currently, there is no cure for these disorders. We believe that neuromuscular disorders will one day be cured (with treatments and therapies), and that our organization will be a positive contributor to that outcome by: investing in innovative research that has potential for real-world impact; providing programs and support services for those impacted by neuromuscular disorders, their caregivers and families, health professionals and researchers; and remaining committed to advocating for fair and patient-centric policies that improve the lives of all Canadians with neuromuscular disorders.
Currently, the range of treatments and therapies available to support impacted individuals can come with a heavy financial burden and a significant economic impact. As an organization, we are passionate in the belief that every Canadian with a neuromuscular disorder deserves to benefit from leading-edge discoveries in the research field in a timely manner and equal access to the best treatments. Muscular Dystrophy Canada together with members of its Medical and Scientific Advisory Committee are of the strong belief that, if PMPRB guidelines are enacted as proposed, the amendments may result in unfavorable consequences as described below:
Significant decreases in price will result in delays in manufacturers launching their product in Canada and this will have a negative impact on the overall length of time that it takes for Canadians to have access to new medicines in Canada, if at all. We are seriously concerned that Canadians with neuromuscular disorders will, in fact, see a decline in innovative medicines access. Members of our Medical and Scientific Committee Dr. James Dowling (Hospital for Sick Children, Toronto), Dr. Ronald D. Cohn (Hospital for Sick Children, Toronto), and Dr. Craig Campbell (Children’s Hospital London Health Sciences Centre, London) together published an article in April 2018 in the Journal of Medical Genetics that emphasizes: “many exciting treatment approaches are currently in clinical trial, and several have achieved conditional or full market approval in various regions of the world. Many other treatments are in the pipeline, and we predict that over the next decade meaningful therapies will become widespread across the neuromuscular disease spectrum.”
In addition to compromising timely access to new therapies for patients with neuromuscular disorders, Muscular Dystrophy Canada is profoundly concerned about the impact the pricing changes will have on the health research infrastructure of Canada. Although PMPRB confidently notes that pricing is not a significant determinant to bringing clinical research to Canada, the Life Sciences Ontario (2019) survey says otherwise. In that survey, 91% of pharmaceutical executives said the changes would have a negative effect on clinical research in Canada, with 44% saying the negative effect would be “significant.” There will be significant adverse impact of the proposed changes on research incentives and investments, which is important as we are on the verge of life-changing therapies and treatments for individuals with neuromuscular disorders.
While we support the efforts to lower the costs of prescription drugs for Canadians, we strongly believe that this must be done in a way that ensures timely access by Canadians to new medicines and to clinical studies of new medicines. Our recommendations are in line with those proposed by Health Charities Coalition Canada (HCCC) and we strongly echo the discussion outlined in their thorough and carefully well thought-out submission. We suggest you carefully review our submissions and take into account these four key recommendations:
Recommendation #1:
That the PMPRB undertake a stepwise approach to its proposed changes by initially enacting only the changes to the comparator countries. Once the impact of this change is fully understood and if the objective of lowering Canadian prices sufficiently has not been met, then other new elements could be considered.
Recommendation #2:
That a multi-stakeholder dialogue be established to evaluate the impact of the changes on availability of medicines and specifically to inform any decision on whether and how to implement the use of the new economic criteria.
Recommendation #3:
That the Federal Government require PMPRB to hire a third party to conduct a formal assessment of the potential and real-time impacts of the reforms on research investment and activity in Canada (including clinical trials).
Recommendation #4:
That the Federal Government require that PMPRB, along with other appropriate agencies, immediately establish a formal mechanism for meaningfully and continuously engaging patient representatives in its decision-making and processes to ensure patient voice, choice and representation.
Thank you for the opportunity to review the guidelines and provide comments. We remain committed to working with the Federal Government and the broader stakeholder community in defining an implementation and evaluation process that will address both cost savings and access
to innovation that will optimally serve the needs of individuals with neuromuscular disorders in Canada. We wish our feedback will be taken into consideration as you prepare the final guidelines and we would be happy to answer any questions you might have.
Toronto, November 15, 2019 – Research experts, the medical community, and industry stakeholders came together in Toronto this week at the inaugural Muscular Dystrophy Canada (MDC) SMA Research Summit to discuss new research and development.
“This summit was an important opportunity for us to review the latest developments and discuss where there are opportunities to enhance our role in the neuromuscular community in order to provide the proper support for individuals and families impacted by SMA,” said Barbara Stead-Coyle, CEO, Muscular Dystrophy Canada. “We thank our generous sponsors Biogen, Novartis, and Roche for providing us with the opportunity to have these important conversations, as well as our organizing committee—co-chairs Dr. Rashmi Kothary and Dr. Maryam Oskoui, as well as Dr. Craig Campbell and Dr. Lawrence Korngut.”
Key topics under discussion included new research, clinical trial developments, and the changing treatment and regulatory landscape in Canada.
“As part of MDC’s ongoing commitment to influence positive change, we convened leading medical and scientific experts to share and collaborate in ways that will foster medical advances and impact the lives of the individuals and families that we serve. We are excited to continue the momentum and are planning MDC’s first nationwide Neuromuscular Impact Conference, which will be held next year so our clients have an opportunity to hear and speak to the scientific and medical community,” said Daria Wojtal, Director of Research, Muscular Dystrophy Canada.
Spinal muscular atrophy is a severe, inherited, progressive neuromuscular disease that causes major problems with walking, muscle strength, fine motor skills, and the basic physical functions of breathing, swallowing, and feeding. Until recently, there were limited treatment options for SMA, but prognosis has been transformed with the recent availability of a number of effective disease-modifying therapies, notably nusinersen, known as Spinraza. Great advances have been made and there is a pipeline of clinical trials that are transforming what it means to be diagnosed with this rare neuromuscular disease.
ABOUT MUSCULAR DYSTROPHY CANADA
Muscular Dystrophy Canada’s mission is to enhance the lives of those impacted with neuromuscular disorders by continually working to provide ongoing support and resources while relentlessly searching for a cure through well-funded research. To learn more about Muscular Dystrophy Canada, please visit muscle.ca or call our toll-free number at 1-800-567-2873.
CRISPR-Cas9 technology, a gene editing tool, has been significantly upgraded with a new feature called prime editing. This enhancement addresses two limitations of CRISPR technology by: (1) allowing the change of a gene’s spelling into a predicted sequence without requiring a cell to divide and (2) without needing to cut both strands of the DNA double helix, which reduces the risk of making unintentional changes. The study published in Nature used prime editing on human cells to correct the genetic spelling mistakes associated with Tay-Sacks and Sickle-Cell Anemia. Compared to traditional CRISPR technology, this study showed that the prime editing feature made CRISPR more precise, efficient and highly versatile.
CRISPR-Prime editing holds promise for the treatment of neuromuscular disorders (NMDs) as it allows genetic repairs in non-dividing cells like neurons and muscle cells and could potentially be used on a subset of NMDs caused by small genetic spelling mistakes like point mutations, small insertions or deletions. But in its current form, up to 80 letter changes were edited and so this upgrade would not work for other types of NMDs: Charcot-Marie-Tooth 1A and Myotonic muscular dystrophies as well as some cases of Duchenne, and Becker Muscular Dystrophies are caused by large thousand or even hundred thousand letter deletions, duplications, inversions and repeat expansions. As this technique moves us one step closer to correcting genetic mutations that cause human genetic diseases, there is a need to continue research to develop safe and effective treatment for the wide range of specific disease-causing spelling mistakes associated with NMDs
Eight years ago, I sat in a doctor’s office staring down at a brochure from Muscular Dystrophy Canada mindlessly reading the same line over and over again.
Alfred and his son, Eloi who was diagnosed with Duchenne Muscular Dystrophy need your support. Alfred’s passion for helping others led to him being named an honorary firefighter.
I was in shock. A doctor had just told me my 4-year-old son, Eloi, had Duchenne Muscular Dystrophy. When news like that comes, it’s like the world stops and the sky is falling on you.
All I could think about was that my son was going to stop walking and I would live to bury him and there was little I could do to intervene.
I didn’t know in that moment I would have supporters like you on my side, to help my family through this.
But then we reached out to Muscular Dystrophy Canada (MDC) and learned about the incredible support they are able to provide thanks to donors. In fact, we were so moved that we decided to take action by helping them raise much-needed funds for equipment, research and support for other famliles impacted.
September is Muscular Dystrophy Awareness Month so I hope that you, too, will take action by making a gift today to help support the more than 50,000 Canadians impacted by neuromuscular disorders.
Families like Alfred’s, impacted by muscular dystrophy, need your support.
Because donors like you are having an incredible impact on the lives of individuals and families, like mine, who are living with a muscular dystrophy diagnosis.
For example, thanks to donors, we were able to adapt our home so Eloi can safely and freely get around. He has a scooter. He’s gone to summer camp. And, MDC was even able to visit his elementary school with their Muscle Facts program to help his classmates and teachers better understand his diagnosis and challenges. None of this would have been possible, without your support.
Sadly our story is not unique. Every year, more families have to figure out what a diagnosis of muscular dystrophy means for their son, daughter, brother, mother. You may even be one of those people, and you remember that moment as vividly as I do.
Mostly, I remember feeling helpless. The fear of the unknown can be so overwhelming. But joining the Muscular Dystrophy Canada family has been one of the most transformative experiences of my life. Not only has my family been gifted with new friendships and an invaluable support network – I’ve been able to help other families.
Donors, like you and me, can improve the lives of the thousands of Canadians living with a muscular dystrophy. That’s why I hope you will mark Muscular Dystrophy Awareness Month with a generous gift.
I’ve seen first-hand how gifts from donors play a critical role in supporting individuals. And because of my job, managing clinical trials for a pharmaceutical company, I’ve seen how your gifts are moving promising research forward as well. Research can make the difference between an individual, like my son, walking or spending the rest of their lives in a wheelchair.
Right now, Eloi only needs a wheelchair for long distances. But we know the day may come when he will have to rely on it completely. And, he’ll require other supports to maintain his quality of life. This disorder is progressive. It can be slowed, but not stopped. That’s why ongoing donor support is critical.
By making a gift today, you will be providing hope to all Canadians, whether they have been living with a disorder or they are just getting a diagnosis. Please give generously.
From my family to yours,
Alfred Breton-Pare, Eloi’s Proud Papa
P.S. September is Muscular Dystrophy Awareness Month. Please make a gift to MDC so together we can fund life-changing equipment, and invest in life-saving research.
Alberta fourth province to expand access to SPINRAZA™ for patients impacted with Spinal Muscular Atrophy.
Muscular Dystrophy Canada (MDC) commends the Government of Alberta for joining Quebec, Saskatchewan, and Ontario in expanding access to SPINRAZA™, a life-changing treatment for individuals impacted with Spinal Muscular Atrophy (SMA).
In Alberta, the following patients will now be eligible for reimbursement of SPINRAZA™, in addition to Type 1 patients:
patients who are pre-symptomatic with two or three copies of SMN2, or
have had disease duration of less than six months, two copies of SMN2, and symptom onset the first week after birth and on or before seven months of age, or
are under the age of 18 with symptom onset after six months of age, regardless of the ability to walk.
Other patients who do not meet the expanded funding criteria may be considered in exceptional cases.
Toronto, Ontario – Muscular Dystrophy Canada (MDC) applauds the Government of Ontario for expanding access to SPINRAZA™, a life-changing treatment for individuals impacted with Spinal Muscular Atrophy (SMA).
In Ontario, expanded coverage of SPINRAZA™ will include the following, in addition to existing coverage for Type 1 patients:
patients who are pre-symptomatic with two or three copies of the SMN2 gene;
patients with a disease duration of less than six months, two copies of the SMN2 gene, and symptom onset the first week after birth and on or before seven months of age;
patients under the age of 18, with symptom onset after six months of age and who have never achieved the ability to walk independently.
