Jesse's Journey Foundation

Defeat Duchenne. Change Lives.

Rare Disease Day 2021

Did you know 1 in 12 Canadians has a rare disorder? That’s approximately 3 million Canadians and their families who face a debilitating disease that severely impacts their lives.

Sunday, February 28, 2021, is Rare Disease Day, and we ask for your help in raising awareness of Duchenne muscular dystrophy.

Though Duchenne is the most common fatal genetic disorder diagnosed in childhood, it is considered a rare disease, affecting 1 in every 5,000 male births. Because rare diseases, like Duchenne, affect a smaller number of people than those with more common illnesses, it becomes far more challenging to find the investment into scientific understanding and treatment development – this is where Jesse’s Journey has made a difference.

We have been the leading voice for the Duchenne community in Canada for more than 25 years – investing more than $13.1 million to date into the most promising research around the world. Our investments, made possible by donors – like you, have resulted in the discovery of potential treatment options. While this is an exciting time, we also need to ensure Canadian boys and young men have equal access to these treatments as they are discovered.

According to the Canadian Organization for Rare Disorders (CORD), only 60% of treatments for rare disorders make it into Canada and most get approved up to six years later than other countries. This is the sad truth for Duchenne. While Duchenne families in Europe and the USA have access to some treatments, there are currently no treatments available in Canada. That means people with rare disorders, like Duchenne, are at risk because they are missing out on therapies that could improve their lives. This needs to change.

Your Voice

We asked four families from across Canada: “What is it like living with the rare disease, Duchenne muscular dystrophy?” Read their heartfelt and inspiring responses below.

Living with uncertainty, living in the unknown. Having to adjust your vision, to constantly adapt. Creating space to grieve the loss of what you thought your life would look like. Most importantly, holding on to hope…the hope that others will care, the hope of medical miracles and the hope for a brighter future. This is what it means to live with a rare disease…this is what it means to live with Duchenne.

***

Vivre dans l’incertitude, vivre dans l’inconnu. Devoir ajuster sa vision, s’adapter en permanence. Créer un espace pour pleurer la perte de ce à quoi vous pensiez que votre vie ressemblerait. Plus important encore, garder l’espoir … l’espoir que les autres s’en soucieront, l’espoir de miracles médicaux et l’espoir d’un avenir meilleur. C’est ce que signifie vivre avec une maladie rare … c’est ce que signifie vivre avec Duchenne.

We are considered a rare family.

Being rare highlights our unique and remarkable differences. It reminds us that we are one of a kind and that we are meant to stand out, not blend in. It reminds us to be brave.

Being a rare family is very complex, unpredictable and life-altering. It is an unimaginable roller coaster that continues to change and challenge us. It is heart-clenching and breathtaking. It is about grieving, learning, accepting, discovering, redefining, advocating, overcoming, supporting, loving, believing, trusting hoping and persevering.  It is about medical appointments, trials, and patience.

As a Duchenne parent, we know how important it is to take it day by day, and how precious time is. It is important to have our voices heard, to have a supportive community, to continue to hope and believe for the future as we continue to fight to defeat duchenne.

These are some of the ways we would describe our rare journey.

***

Vivre avec la dystrophie musculaire de Duchenne?

«Nous sommes considérés comme une famille rare.

Être rare met en évidence nos différences incomparables. Cela nous rappelle que nous sommes particuliers et que nous sommes censés nous démarquer et non pas nous effacer. Cela nous rappelle d’être courageux.

Être une famille rare est très complexe, imprévisible et bouleverse nos vies. C’est une montagne russe inimaginable et changeante qui nous défit à chaque jour. C’est avoir le cœur serré et le souffle coupé à chaque instant. Il s’agit de faire plusieurs deuils, d’apprendre, d’accepter, de découvrir, de redéfinir, de défendre, de surmonter, de soutenir, d’aimer, de croire, de faire confiance, d’espérer et de persévérer. Il s’agit de rendez-vous médicaux, d’essais cliniques et de patience.

En tant que parent DMD, nous savons à quel point il est important de prendre la vie au jour le jour et que le temps est très précieux. Il est important de faire entendre nos voix, d’avoir une communauté solidaire, d’espérer et de croire en l’avenir alors que nous continuons à lutter pour vaincre la DMD.

Voici quelques-unes des façons dont nous décririons notre rare parcours.

On a micro level, having a rare disease like Duchenne muscular dystrophy means your family needs to do a lot of things other families don’t have to think about…booking appointments with doctors (and there are a lot of different doctors), making accommodations at school, buying mobility and other equipment, making time for exercise/stretching, and making house renovations to increase accessibility. It means travel requires a lot more detailed planning. Despite having to become very organized, particularly with regard to time management, it is also necessary to get better at problem-solving and figuring things out on the fly, because stuff comes up. In summary, it’s a lot of hard work.

But it is also an opportunity to see what you are made of. We have chosen to stand up and fight the disease…through fundraising, volunteering, and in Eric’s case, donating his body to science as a willing participant in various clinical trials. He has been poked and prodded for the better part of the past 10 years. We couldn’t begin to estimate the number of times he has had a needle jabbed into his body. It is a special person that can put up with what he has to every day and maintain such a positive attitude, which he has.

Eric moved 500 km away to go to Carleton University in the fall of 2019. Juggling trips to London every two weeks for the drug trial was a big challenge, but one we managed using taxies, buses, trains, and a lot of driving. COVID has forced him home for second year, but he can’t wait to get back to Ottawa in September and regain the independence he had come to enjoy living on his own.

***

« En regardant de très près, avoir une maladie rare comme la dystrophie musculaire de Duchenne signifie que votre famille doit faire beaucoup de choses auxquelles les autres familles n’ont pas à penser… Prendre des rendez-vous avec des médecins (et il y a beaucoup de médecins différents), faire des accommodements à l’école, l’achat de matériel de mobilité et d’autres équipements, planifier du temps pour faire faire de l’exercice / des étirements et de rénover la maison pour accroître l’accessibilité. Cela signifie que les voyages nécessitent une planification beaucoup plus détaillée. Malgré le fait de devoir devenir très organisé, notamment en ce qui concerne la gestion du temps, il est également nécessaire de s’améliorer dans la résolution de problèmes et de comprendre les choses à la volée. En résumé, c’est beaucoup de travail.

Mais c’est aussi l’occasion de voir de quoi vous êtes fait. Nous avons choisi de nous lever et de lutter contre la maladie… Par la collecte de fonds, le bénévolat et, dans le cas d’Eric, prêter son corps à la science comme volontaire à divers essais cliniques. Il a été poussé et bousculé pendant la majeure partie des 10 dernières années. Nous ne comptons plus le nombre de fois où il a eu une aiguille piquée dans son corps. C’est une personne exceptionnelle qui peut supporter ce que la vie lui sert chaque jour et maintenir une attitude aussi positive.

Eric a déménagé à 500 km pour se rendre à l’Université Carleton à l’automne 2019. Jongler avec des aller-retours toutes les deux semaines pour l’essai clinique était un défi de taille, mais nous avons réussi à utiliser des taxis, des bus, des trains et beaucoup de conduites. Le COVID l’a forcé à rentrer chez lui pour la deuxième année, mais il a hâte de revenir à Ottawa en septembre et de retrouver l’indépendance. »

We are a rare family. But what does that mean?

For us living with Duchenne means most people we interact with every day either do not see, or do not understand our challenges. Some see a healthy-looking child, while others struggle with how they can help with something they do not understand. Yet every day we feel love and strength as we strive to live life in the moment. We draw hope from trials, medical advances, and the Duchenne community. Most of all, we feel love and admiration for our son who lives life with happiness and determination.

A rare disease like Duchenne doesn’t come with a guidebook. Being a rare family is an opportunity to define our challenges on our own terms. Duchenne may be a rare disease, but thankfully hope is not rare and it keeps us going every day.

***

Nous sommes une famille rare. Mais qu’est-ce que ça veut dire ? Pour nous, vivre avec la dystrophie musculaire de Duchenne (DMD) signifie que la plupart des gens avec qui nous interagissons tous les jours ne voient pas ou ne comprennent pas nos défis. Certains voient un enfant en bonne santé, tandis que d’autres ne savent pas comment nous aider. Chaque jour, nous ressentons amour et force, nous nous efforçons de vivre la vie au moment présent. L’espoir nous provient des essais cliniques, des avancées médicales et de la communauté de la DMD. Surtout, nous aimons et admirons notre fils, qui vit la vie avec bonheur et détermination.

Une maladie rare comme la dystrophie musculaire de Duchenne ne vient pas avec un guide. Être une famille rare est l’occasion de définir nos défis à notre façon. La DMD est peut-être une maladie rare, mais heureusement, l’espoir n’est pas rare et cela nous permet de continuer tous les jours.

How to Get Involved

Join us on Social Media

  1. Follow Jesse’s Journey: Facebook @defeatduchenne | Twitter @jesses_journey | Instagram @jesses_journey
  2. Share our posts about Rare Disease Day to help raise awareness with your network

OR

Create your own posts by sharing the images below along with a fact about Duchenne:

  • Did you know: Duchenne muscular dystrophy is a muscle-wasting condition affecting 1 in every 5,000 boys in Canada? February 28 is Rare Disease Day. Share this post to help raise awareness of this fatal genetic disease: www.jessesjourney.com.
  • Did you know: 90% of boys diagnosed with Duchenne muscular dystrophy are in wheelchairs by age 15? February 28 is Rare Disease Day. Share this post to help raise awareness of this fatal genetic disease: www.jessesjourney.com.
  • Did you know: Since 2014, five medications for Duchenne have been approved in the USA and Europe? While in Canada, Duchenne families are still waiting. February 28 is Rare Disease Day. Share this post to help raise awareness of this fatal genetic disease: www.jessesjourney.com.

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Rare Disease Day Webinar: Celebrating Achievements that Support A Pan-Canadian Rare Drug Program

The Canadian Organization for Rare Disorders (CORD) will focus their next webinar on:

  • 5 Years of Advances in “5 Pillars” of Canada’s Rare Disease Strategy
  • How to Monitor Rare Drugs from Clinical Trials to Real-World Usage
  • How Rare Disease Patient Organizations Support Appropriate Access and Usage

Date: February 26, 2021
Time: 12:00 p.m. EST

Click the button below to watch the recording.

Rare Disease Day Conference: From Draft to Action Plan

The Canadian Organization for Rare Disorders (CORD) will be hosting a conference for Rare Disease Day.

Date: March 9 – 10, 2021
Time: 11:00 a.m. – 2:00 p.m. EST

Click the button below to watch the recording.

In the News

Canada’s Rare Voices

The Toronto Star has created an eight-week online program for Rare Disease Day 2021, devoted entirely to increasing the visibility of Canada’s rare disease communities through original patient, caregiver, advocate, and clinician storytelling.

Nicola Worsfold (Director of Research and Advocacy at Jesse’s Journey) and her 13-year old son, Owen, who has Duchenne, were featured in the article ‘Critical therapies remain out of reach for many Canadians with rare diseases.’

Rare Disease Campaign 

Maclean’s Magazine has created a campaign to raise awareness of Rare Disease Day 2021, drawing attention to the more than 7,000 rare diseases. The campaign aims to foster dialogue between patients, caregivers, industry leaders, and policymakers,  encouraging collaboration on patient access and rare disease education.

Rick Moss (Director of Strategic Partnerships), was featured in the article ‘Collaboration Is Key to Success in Rare Disease Research and Development.’

About Rare Disease Advocacy

What is Rare Disease Day?

There are over 300 million people worldwide living with a rare disease. Together across borders, and across the 6,000+ rare diseases we work towards more equitable access to diagnosis, treatment, care and social opportunity.

Launched by EURORDIS-Rare Diseases Europe and its Council of National Alliances in 2008, Rare Disease Day is the official international awareness-raising campaign for rare diseases that takes place on the last day of February each year. The main objective of the campaign is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

www.rarediseaseday.org

Canadian Rare Disease Strategy

In February 2019, the Canadian government committed $1 billion to a national Rare Disease Drug Strategy to be put in place in 2022.  In September 2020, in the Speech from the Throne, the government further committed to an overall Canadian Rare Disease Strategy, first presented to Parliament in 2015.

Jesse’s Journey fully supports the development of a Rare Disease Strategy and continues to advocate for the Duchenne community through the Canadian Organization for Rare Disorders (CORD) and Health Canada. Please see our position paper on why Canada needs a Rare Disease Strategy below.