A call to resilience

A text written by Guylaine Rivard
This is a text that has been originally published in the group Les mamans Duchenne.

On June 18th in 2009, it’s been almost ten years ago today that the DMD diagnosis for Félix fell on us. I say dropped on us, but it was more or so as if I got shot in my chest. Duchenne muscular dystrophy…pow! Incurable…pow! Loss of walking ability, decreasing life expectancy, wheelchair…Pow! Pow! Pow!

 

I am rolling with the punches. Each word, I feel like I’m taking a step back with my chair. I can’t; I really can’t believe that such a thing is happening to us…

This incurable disease will slowly take my little boy away without letting me do anything to stop it. I went shopping with Félix right away after the diagnosis because that’s what we planned to do: going for dinner at a restaurant and buying him sneakers.

I can remember sitting at a table, Félix couldn’t stop talking (as usual). I look at him, and I smile. He’s six years old. I just want to scream and cry.

 

First clinic appointment

There comes his first neuromuscular clinic. I’m waiting for our turn in the corridor. I feel devastated. I see a family with a youngster who was probably 17-18 years old or so. The parents are talking to everybody:

” Hi, Daniel! How are you?”  The mother speaks with interveners. Between two words, she gives pieces of a cookie to her son, because he can’t raise his arms to his mouth. She keeps going as she still speaks, she puts the juice with a drinking straw close to his mouth. Let me say I absolutely do not understand how they’re doing to be happy talking here, and even laughing! I find them impressive, and his mom fascinates me, I don’t know how she does it.

 

Learning how to live with the disease

Today, I know. I know that you do learn to live with the disease. It becomes a part of our life. One day, I wake up, and resilience shows up. I got to prepare myself to deal with the disease because the diagnosis is a shock that we must go through, but other shocks will follow. I must decide to fight, to roll up my sleeves and move ahead to make sure Félix lack nothing and help him the best I can so he can also go through shocks and help him grieve.

 

Resilience and resistance

Resilience, resistance, I am not quite sure… But one thing is sure, we are fighting, always. (Félix’s dad is a great history fan. He made me realize that June 18th is a date that we will never forget.)

June 18th, 1940: De Gaulle’s appeal for resistance General de Gaulle calls every Frenchmen and Frenchwomen to stand up and fight against the enemy:

“But has the last word been said? Must hope to disappear? Is defeat final? No! Whatever happens, the flame of the French resistance must not be extinguished and will not be extinguished.”

I invite you, mothers, fathers and Duchenne youngsters to not give up:

“Whatever happens, the flame of the Duchenne families’ resistance must not be extinguished and will not be extinguished.”

 

Interesting links

This text has been published on a private group called “Les Mamans Duchenne” that is administered by Carole Auclair.

https://www.facebook.com/groups/487532107953556/

 

Girls with Duchenne: The Great Forgotten

Only one woman in 50 million is affected by Duchenne muscular dystrophy (DMD). Considered as a male disease, DMD usually affects boys (1 in 3500). Some people don’t know that they exist. Those women affected by DMD are there, and they are suffering from this lack of education. Know that DMD is a rare disease and difficult to live for a boy. So, just imagine what it could mean for girls. They face many additional obstacles; they aren’t unicorns they exist, and DMD girls deserve to be heard. Here’s what Feriel had to say and without censorship.

 

Feriel’s seeks equality

Feriel Cheba: “As a woman with this myopathy, I am fighting to say that us, girls with Duchenne’s myopathy, we exist. We are here, we too, we do want to live and have the right to dream about recovery and a better life. »

 

A world traveller despite DMD

Feriel is a young woman of 26 years old, native of France. Tiredness related to DMD didn’t stop her to become a world traveller. She visits many countries going through Europe, Tunisia, Mauritania, Cuba and Senegal to only name them. She is also a cinephile and loves everything that involves culture. Simply put, she loves life. She fights to live life to the fullest every single moment.

 

A sense of abandonment

It is in 1998 that she received the diagnosis of Duchenne’s myopathy (myopathy is the term used in France). She was only six years old, and it was already challenging to hear this news. However, repeating continually that she has a male disease amplifies her pain.

Feriel Cheba: ” It’s very hard as a parent to learn that your child has this disease especially when doctors tell you constantly that it’s a male disease. Incomprehension and unfairness are high. Why do so many doctors think this disease doesn’t affect women? It is time now to tell talk about it with young medical students, it has to be told during their genetic courses that Duchenne’s myopathy affects mostly boys and sometimes girls too”.

 

Hurtful words

She also gets many hurtful comments. There is a lack of resources and answers. In fact, it is even harder for girls to access clinical trials. Two neurologists told her that some clinical trials were open for boys exclusively, what she thinks is an injustice.

Feriel Cheba: “People do not believe me. They tell me that it’s impossible that I am affected by this disease. People don’t like what is rare. An internist even told me that it was an anomaly. Am I unnormal? No, I don’t think so. I am only different as everyone else”.

 

The hope for recovery and everybody

Despite all the difficulties encountered, she remains hopeful. She takes advantage of every moment spent with her family and friends. She also knows the existence of a treatment that can help with her specific mutation. Although, she can’t access it since its exclusive for walking patients. In her heart, she keeps hoping and dreaming of the day there will be a treatment for everyone suffering from DMD.

 

More about Duchenne: Duchenne muscular dystrophy – La Force DMD

Facebook Group: Girls can get Duchenne Too

MDA > Girls don’t get Duchenne or do they

Myopathie de Duchenne

 

 

Portrait of Duchenne – For the love of his brother!

What’s it like to live with DMD? As a parent, to face the reality that your child has a fatal disease? As a person with DMD, to face an inevitable, premature death in your twenties? As a sibling, relative or friend, to face mourning your loss?

The journey is beyond words.

Our Web short documentary series, “Portrait of Duchenne Canada”, will present the experiences of families and children with DMD. You will meet five Canadian families who are taking on the challenges of raising money and leading the way in advocating for access to new treatments. Today, more than ever, it’s time to share their stories. New treatments are on the horizon and families need to be heard to advocate for ways to access them quickly.

SAMUEL & GUILLAUME

Dream of a robotic arm becomes real, too late…

Samuel Fleurant-Beauchemin’s brother Guillaume had DMD. Guillaume was gradually losing the use of his arms. One day, Samuel came to visit his brother with a sparkle in his eyes. He had just seen a JACO robotic arm. He believed that the wheelchair-mounted device would restore Guillaume’s independence. Samuel decided to get his brother the robotic arm at all costs! He would start a non-profit organization to raise funds. He would quickly succeed in his task. And he did. But on the day that the arm was installed, destiny struck. Guillaume was admitted to the hospital, where he passed away shortly afterwards. Despite this ordeal, Samuel decided to continue to give back. Today, he runs an organization called A bridge to autonomy. To date, they have given 20 robotic arms to children with DMD in Quebec.

 

 

 

Quotes from the video

 

Mourning with his brother

Samuel Fleurent-Beauchemin:“To me, what has been the hardest was to live with the bereavements of my brother, who should no longer be able to do such and such.”

 

Samuel Fleurent-Beauchemin: “I was a bit angry with life, to make him suffer and to make us go through all of this.”

 

Samuel Fleurent-Beauchemin:“I think for him, as a human being who has already had his autonomy, I think the biggest challenge is to understand that you once have done it, but no more today.”

 

When the arm was installed, he went to emergency, never to return

Samuel Fleurent-Beauchemin:“On January 24th, Guillaume’s arm was installed. He had just been officially installed and, that day, he went to the emergency.”

 

Samuel Fleurent-Beauchemin: “We have created a foundation to help others. We help people by providing them with technical assistance and tools that are complementary to what the government offers. Currently, it involves the gift of robotic arms.”

 

Paying forward in memory of his brother

Samuel Fleurent-Beauchemin: “What my brother has brought me in life continues to grow on me. It is the project that he inspired in me; it is a project that represents him. It’s always inside me and it’s always growing. When you are in mourning, you really must focus on the person you have become, because of these past ones. Without this person, we would not have become who we are. I am glad because he’s still making me grow.”

 

Join the fight!

Duchenne muscular dystrophy (DMD) is a rare disease with no cure. Orphan drugs that target its causes are being developed now. But we need your help. Research is the only hope. And research requires funding.

For the past 20 years, Canadian families in the DMD community have been raising funds for and awareness of DMD. Their actions and successes have funded current research. Now that new treatments are emerging, families need to unite and be heard to access new treatments quickly.

 

Bruce Babington, our own La Force athlete, will cycle across Canada in July 2018 to raise funds and awareness for DMD. Our part is to tell their story.

 

Sharing these stories is one step forward towards the cure

  • We invite you to share this story with your community.
  • Encourage Bruce’s challenge: to cycle from Quebec to British Columbia in 24 days! Donate / here
  • Make a donation to our organization, so we can continue to help get closer to treatment. Donate / here

 

For more information:

About Samuel’s organization: Un pont vers l’autonomie / here

About Kinova’s JACO robotic arm: Kinova / here

Portrait of Duchenne – Victor’s unforgettable experience!

 

Giving an incredible experience to your child

Victor Morand, 11 years old: “I like it because they give you a lot of encouragement and it’s one of the only activities I can do with my dad.”

It took about two years of going back and forward to doctor appointments before the Morand family got a DMD diagnosis. Like every other parent, Jean-Philippe Morand turned to the Internet looking for answers. He understood…  the best hope for Victor was research. Exactly one year after receiving the diagnosis, they started a fundraiser event called Dystrospin.

They’ve raised thousands of dollars for the past four years, but Jean-Philippe wanted to do more so he started running and cycling with Victor which made them on top for raising funds awareness for DMD. In 2017, the father and son travelled over 600 km; they ran two marathons (Québec and Ottawa) and accomplished a track cycling of 650 km called La randonnée Jimmy Pelletier. This is the inspiring story of Jean-Philippe and Victor.

 

 

Quotes from the video

The hope lies in the research

Jean-Phillipe Morand: “Hope lies in research. A few weeks after I learned about Victor, I thought: well, after going through all the information on the internet about muscular dystrophy, I realized that my only hope lies in research. So, from there, we started exactly a year after the diagnosis the Dystrospin for collecting money to give it to research so we can find a cure to help Victor.”

 

The importance of their actions for funding research

Jérôme Frenette, Professor: “People alike Jean-Philippe who put so much energy in developing recruitment projects, it really matters. Finally, it puts a face on those affected by the disease, we now know why we wake up to work. We have children…I have pictures of many children at my office, I put them in the laboratory. People like the foundation give us a real picture of the tangible reality about everyday work that you tend to lose sight of when you work in a laboratory. Foundations are helpful, they give us credibility when we discuss with granting agencies. I think that for them, we also put a face on the children concerned, on people and on the importance of research in those fields.”

 

Join the fight!

Duchenne muscular dystrophy (DMD) is a rare disease with no cure. Orphan drugs that target its causes are being developed now. But we need your help. Research is the only hope. And research needs funding.

For the past 20 years, Canadian families in the DMD community have been raising funds for and awareness of DMD. Their actions and successes have funded current research. Now that new treatments are emerging, families need to unite and be heard to access new treatments quickly.

 

Bruce Babington, our own La Force athlete, will cycle across Canada in July 2018 to raise funds and awareness for DMD. Our part is to tell their story.

 

Sharing these stories is one step forward towards the cure

  • We invite you to share this story with your community.
  • Encourage Bruce’s challenge: to cycle from Quebec to British Columbia in 24 days! Donate / here
  • Make a donation to our organization, so we can continue to help get closer to treatment. Donate / here

 

For more information:

Jean-Philippe Morand event Distrospin/ here

La Randonnée Jimmy Pelletier/ here

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Portrait of Duchenne – Every action counts!

A chance encounter launched groundbreaking DMD research

When Max Sedmihradsky was two-years-old, he received the DMD diagnosis. The news was devastating beyond words for his parents Kerry and Andrew. After a moment of profound sadness, Andrew came up with the idea for Max’s Big Ride. Every year he cycles between Ottawa and Hamilton, Ontario, with Max in front of the cargo bike. The ride aims to raise funds and awareness for Duchenne muscular dystrophy.

Andrew works at the University of Toronto, where the researcher Patrick Gunning also works. Andrew took the chance to reach up to him to see if he would do some research for DMD. At that time, Patrick Gunning reached out to his graduate students to start a research on DMD. They found out that the cell they are working on, “Stat 3”, plays a decisive role in DMD. A year later, after this chance encounter, the Gunning Group received a $300,000 grant and are performing ground-breaking research for DMD. This is the story of Max’s Big Ride and the Gunning Group.

 

 

Quotes from video

Magic happened

Andrew Sedmihradsky: “You know, it’s the very random kind of thing that happened and the fact that I work in the building where there is a man who potentially could have the cure for Duchenne is tremendous”

 

Kerry Sedmihradsky: “Patrick Gunning is a researcher at the University of Toronto where Andrew works. And Andrew attended a talk which mention the research that Patrick was doing and for what he has told me, he is kind of the rock star of researchers at the University of Toronto”

 

Patrick Gunning, Associate Professor: “Would you be interested in looking at developing drugs for Duchenne?’’ And I said: “Well, we are typically oncology based and I don’t think that the targets that we make drugs for are involved in Duchenne.” I asked my graduated student Yasir to investigate whether STAT proteins in particular were involved in Duchenne.”

 

A ride of hope: Max’s Big Ride

Andrew Sedmihradsky: “You know, a few days into it, we just went on a family trip to the museum and I remember in the gift shop seeing a card that said: “Falling down is part of life but getting up is living.  It really responded to me, it resonated with me. I think that’s kind of the attitude that we’ve adopted you know, from that point forward. And you know, you have to fight, and we’re determined as a family to do so. To try and beat this.”

 

Kerry Sedmihradsky: “So, he worked out the route between Hamilton and Ottawa which is 600 km with Max riding in the front of the Cargo bike and it’s been a really, really positive experience for our family.”

 

Groundbreaking research with the Gunning Group

Yassir, Graduated student: “It’s very rare that we get to see what we do have an impact. So yeah, my motivation is, just all the young children that have Duchenne and if I can do anything, you know one percent that I can do to try to push this a little bit more, maybe five years later someone pushes it more and hopefully, we live in a world soon where Duchenne is something that is normal and we can cure it.”

 

Join the fight!

Duchenne muscular dystrophy (DMD) is a rare disease with no cure. Orphan drugs that target its causes are being developed now. We need your help. Research is the only hope. And research needs funding.

For the past 20 years, Canadian families in the DMD community have been raising funds for and awareness of DMD. Their actions and successes have funded current research. Now that new treatments are emerging, families need to unite and be heard to access new treatments quickly.

 

Bruce Babington, our own La Force athlete, will cycle across Canada in July 2018 to raise funds and awareness for DMD. Our part is to tell their story.

 

Sharing these stories is one step forward towards the cure.

  • We invite you to share this story with your community.
  • Encourage Bruce’s challenge: to cycle from Quebec to British Columbia in 24 days! Make a donation /Here
  • Donate to our organization, so we can continue to help get closer to treatment.  /Here

 

For more information:

About Max’s Big Ride:  Max’s Big Ride / Here

About the Gunning group: The Gunning Group  / Here

John Davidson, godfather of the DMD community

 

This is the story of John Davidson going the distance for his son Jesse and ends up raising millions for new research.

 

 Going the distance to raise millions

Sherene Davidson : When we first started, there was barely anything to fund because there just was nothing out there that people were doing.” 

 

In 1986, the Davidson family learned their son Jesse had Duchenne muscular dystrophy (DMD). They had never heard the expression before. The diagnosis literally flipped their world upside down. They knew little about science and research, but they figured quickly it was their only hope. When Jesse got to an age where his mother, Sherene, had to do the lifting because he was losing mobility, John switched from golfing to walking to stay in shape so he could spend more time with his family. His walks were getting longer and longer, so an idea came to him. Maybe he could walk across Ontario with Jesse, shake some hands, raise funds and get people talking about DMD. He did!  The walk across Ontario was so successful that he decided soon after that to walk across Canada solo. The sum of these two challenges leads to the rise an organization called “Jesse’s Journey.” In the course of the past twenty years, John Davidson and Jesse’s Journey have raised over 9 million dollars.

 

 

Quotes from the video

 

The shock of diagnosis

John Davidson : “I think when it comes to the diagnosis, no one is prepared. And your world literally flips upside. First, you cry. And then, you have a period of wonderment. Why us and what did we do wrong? And have a period of guilt. And then, you just go to a very quiet and dark period.” 

 

A 3,339-km trek across Ontario

John Davidson : “I asked Jesse what he thought about that, I took him out for lunch on his birthday. And he looked at me and he said: “Are you nuts?” And I said: ” Well, yes I am Jesse. Just a little bit.” 

 

Sherene Davidson : “I did think it was very magical, the trip that Jesse had. It was something he’d remember all his life. And the disease itself limited him in so many ways and it was just wonderful that he had that experience that was not limited to.”  

 

Walking 8,300 km across Canada

John Davidson : “I never though of quitting with the exception of one day when I had called home and Jesse wasn’t well. And I remember I was in Saskatchewan, I remember stepping out of the road down that morning and it was like -28.” 

 

Jesse’s passing

John Davidson :  “You always think yes, you’ll be prepared, because in some dark recess of your heart you’ve kind have always known that this might be the outcome. You never talked about it really but you thought that maybe we wouldn’t win in the long run. Is Duchenne thing? Absolutely. But in terms of my life, it may well have been the thing that made me.” 

 

 

Join the fight!

Duchenne muscular dystrophy (DMD) is a rare disease with no cure. Orphan drugs that target its causes are being developed now. But we need your help. Research is the only hope. And research needs funding. For the past 20 years, Canadian families, like the Davidson, have been raising funds for research and awareness of DMD. Their actions and successes have funded current research. Now that new treatments are emerging, families need to unite and be heard to access new treatments quickly.

 

Sharing these stories is one step forward towards the cure.

  • We invite you to share this story with your community.
  • Encourage Bruce’s challenge: to cycle from Quebec to British Columbia in 24 days! Donate /here
  • Donate to our organization, so we can continue to help get closer to treatment. Donate /here

 

For more information:

About John Davidson’s organization Jesse’s Journey

 

Watch our new web series, “Portrait of Duchenne.”

What’s it like to live with DMD? As a parent, to face the reality that your child has a fatal disease? As a person with DMD, to face an inevitable, premature death? As a sibling, relative or friend, to face mourning your loss?

Through our series, the DMD community and people beyond our community will feel this very painful experience. We meet five Canadian families who are taking on the challenges of raising money and leading the way for access to new treatments. Today, more than ever, it’s time to share their stories. New treatments are on the horizon, and families need to be heard to advocate for ways to access them quickly.

 

Visit our new Vlog > vlog.laforcedmd.com

Cycling across Canada to cure DMD

What’s it like to live with DMD?

As a parent, to face the reality that your child has a fatal disease? As a person with DMD, to face an inevitable, premature death in your twenties? As a sibling, relative or friend, to face mourning your loss?

The journey is beyond words.

 

Our Web short documentary series, “Portrait of Duchenne Canada,” will present the experiences of families and children with DMD. You will meet five Canadian families who are taking on the challenges of raising money and leading the way in advocating for access to new treatments. Today, more than ever, it’s time to share their stories. New treatments are on the horizon, and families need to be heard to advocate for ways to access them quickly.

 

This is the story about Bruce Babington, who will cycle across Canada in July 2018 to raise funds and awareness for DMD.

 

A radical decision

“I made rather a foolish decision to ride solo across Canada.” 

-Bruce Babington

 

Bruce has made a radical decision to cycle solo across Canada in July 2018. His goal is to help people afflicted with Duchenne muscular dystrophy (DMD). Bruce is an osteopath. About one year ago, he started to treat Anakin Lacasse, a 9-year-old boy with DMD.  It was the first time that Bruce had encountered a patient with this condition. Anakin was rapidly losing muscle strength, and Bruce quickly became aware of his patient’s reality. Then, he learned about Anakin’s mother’s involvement in La Fondation La Force.

Bruce was so moved that he made up his mind, just like that, to do something to help. So, in July 2018, he’s taking one month off work to cycle an average of 200 km/day between Mont-Tremblant, QC, and Vancouver, BC, in 24 days.

 

First impressions

  • “When I first met Anakin, I was very inspired by him.”
  • “It’s very clear that there’s no quick fix in this instance.”
  • “I wanted to cycle across Canada, so why not do that for La Fondation La Force?”

 

The overriding challenge

Jacques Tremblay, medical researcher (translation): “The main challenge in trying to develop therapies for rare diseases is getting funding to do the research. The direct impact of foundations, such as La Force is that, firstly, they help spread awareness of this disease to the general public. They raise funds that are essential to get preliminary results and then be able to go after larger grants from government-dependent organizations. If we apply for grant applications to those organisations without preliminary results, basically, our chances of having a grant are zero.”

Bruce Babington: “The challenges I have in a 24-day period are nothing like the challenges Anakin is going to have every single day of his life. I try to do as much as I can to help promote La Fondation La Force.”

 

How will cycling across Canada help the DMD community?

  • We are running a fundraising campaign: “Bruce Across Canada.” La Fondation La Force will award all “Bruce across Canada” funds to the most promising Canadian research.
  • We want to give a voice to the Canadian DMD community. Bruce’s endurance challenge is about starting a conversation on access to new treatments in Canada. Two new treatments for DMD are approved elsewhere in the world. Many other treatments are in the final phase of clinical trials. Canada has no framework to review new therapies for rare diseases quickly and efficiently, and the reimbursement process for such treatments is incredibly cumbersome. Add your voice to our conversation. Be a change maker.
  • Help us to ensure that a whole generation of children and young adults with DMD can access new treatments. It’s time to rise to the challenge!

 

Join the fight!

Duchenne muscular dystrophy (DMD) is a rare disease with no cure. Orphan drugs that target its causes are being developed now. But we need your help. Research is the only hope. And research needs funding.

For the past 20 years, Canadian families in the DMD community have been raising funds for and awareness of DMD. Their actions and successes have funded current research. Now that new treatments are emerging, families need to unite and be heard to access new treatments quickly.

 

Our part is to tell their story. Sharing these stories is one step forward towards the cure.

Donate to “Bruce across Canada” Donate here. 

We invite you to share this story with your community.

Donate to our organization, so we can continue to help the DMD community to get closer to treatment. Donate here.

 

For more information:

About DMD: Here

About “Bruce across Canada” Here

About reimbursement of drug costs: Here

TAKING ACTION PORTRAIT OF DUCHENNE – WHEN LIFE CHANGES

In this inspiring interview of our series “Portrait of Duchenne,” La Fondation La Force talks with Émilie Meeus, Oscar’s mother, raising funds for research into Duchenne muscular dystrophy (DMD). Émilie’s life changed when her three-year-old son Oscar was diagnosed with DMD. She decided to do something to make a difference including by starting an association to help the research.  We interviewed Émilie in 2016 at Action Duchenne conference in London.

 

Before diagnosis

Émilie and her family live in Brussels, Belgium. Before they received the diagnosis, the family had at first to wait for the results, hoping the muscular dystrophy wouldn’t be Duchenne’s. They carried hopes and expectations based on earlier negative tests which were given by doctors.

Émilie’s family was perhaps about to learn a shattering news which would drastically change the direction of their life.

 

After diagnosis

Learning about the diagnosis, the family was immediately broken down knowing about the news: “As we first heart that word, that middle name word (Duchenne), all the world has really fallen apart around us.” Émilie and her family had to go through despair and through all this shocking phase facing this different reality that was involved in living with the disease. After that, things got better, and they were able to move later on: “Fortunately, daily life too over. You begin to understand that life goes on.”

An appointment with another doctor helped and encouraged them to accept the situation, to adapt and to reorganize themselves. This specific doctor simply said: “You’re going to live a different life than others, but you’re going to be happy. And the happier you’re going to be, the happier your son will be because children adapt faster and better than us.”

Once they have accepted the situation and they have been supported by professional doctors, some other things interacted and helped them move on and progress.

 

Watch Oscar’s full story >

To create an association

Émilie Meeus and her family wanted to create an association to raise funds and support Duchenne muscular dystrophy’s research: “We’re going to try to help the research and treat the disease. And, even if we fail it, we’re going to give him the best possible life.” So, besides allowing them to stay well-informed about the disease and its latest developments and so for the progress of the research, they’ve been able to expand their social circles, talk with other people suffering from the same disease and listen to their experiences. Their approach allowed them to stay positive and hold on the hope of living a happy life.

 

Reorganisation and life changes

In the final stages of their adaptation process, Émilie and her family had to accept the imposed limits of the disease to allow them finding satisfaction and joy again despite all the difficulties encountered. For instance, their special condition may include positive aspects such as living way more in the present moment: “Perhaps, we enjoy more daily life than others. Maybe it’s that we project ourselves less into the future. I’ve always tended to try looking far ahead. As for now, I do it less because you can never know… Still, it helps me enjoy whatever day holds, it really does.”

 

To broach the subject with children

Émilie found a simple way to broach the DMD disease with her son Oscar comparing it as a “leg’s boo-boo.” Since children are too young to understand all the details of the disease, at least, it allows them to acknowledge their medical situation and recognize it on other people suffering from the same disease: ” When we met another family, we explained to Oscar that we would see a little boy having the same leg’s boo-boo as him.”

Until Oscar is old enough to understand his medical situation, he’s for now able to figure it out through images and simplification with the help of his family.

 

DMD changes your life in a split second

The progression of DMD is unforgiving: the body’s muscles gradually weaken, leaving children with DMD in a wheelchair by age 12. They have a life expectancy of 20 to 30 years. There is no cure and, in Canada, no treatment for the cause. Two treatments for DMD are approved in the USA and Europe, but they don’t benefit all children with DMD. Promising treatments, in development, are expected within 5 to 10 years.

Emilie’s foundation > Little O against DMD

 

Acknowledgements

We thank Action Duchenne, who received us with open arms to conduct a series of interviews.

  

Action Duchenne

To receive the next interview in our series “Portrait of Duchenne,” please subscribe to our newsletter.

 

 

 

 

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FDA Advisory Committee (AdCom) hears the voice of the DMD community

On September 28, 2017, the U.S. Food and Drug Administration (FDA) held an Advisory Committee (AdCom) meeting to discuss the new drug application for ataluren for oral suspension (PTC Therapeutics Inc.). This committee allows stakeholders to present additional data, information and views on treatment. At the end of this hearing, the AdCom voted that more data is needed to prove that ataluren works in children with Duchenne muscular dystrophy (DMD).

About the results of the vote

The FDA Peripheral and Central Nervous System Drugs Advisory Committee voted overwhelmingly that efficacy data, supporting the PTC Therapeutics Inc. application for marketing approval of ataluren, was inconclusive (10 of 11 votes). Only one vote supported the position that clinical research data showed that ataluren was effective in children with DMD due to a nonsense mutation in the dystrophin gene.

Overall, this vote means that the FDA will continue their conversation with PTC Therapeutics Inc. The information presented to the AdCom will be considered as part of the company’s total submission for marketing approval.

La Force meets the DMD community

The La Force team was present at the AdCom meeting. We interviewed many families whose children with DMD have been on ataluren. They were all very positive about the benefits, and they felt that the FDA heard them. This blog gives an overview of what they had to say about the event, the benefits of treatment, and their reactions to the decision.

The role of families at the AdCom

Being able to complete a Lego set. Having more global energy to study. These incalculable benefits rarely emerge from clinical research data. To go beyond the data, the AdCom heard patient and expert testimonials.

 

Betty Vertin, mother of three boys with DMD

“Basically, it is a meeting that gives us an opportunity to put a case together in front of the FDA. They looked at the data, for them, and the data did not make a convincing argument that ataluren worked. So, they pulled in this group of experts. Basically, they’re giving us our day in court and we can put a face to the data and show what benefit really looks like.”

 

About overall benefits

Many benefits cannot be calculated by clinical research data. For example, for a boy with DMD, having more global energy to study is life changing. This is the reason why testimonials from children and young adults are very important at AdCom meetings.

 
Darrell Knight, father of Jack Knight, a 17-year-old with DMD

“Like I said, it varies from boy to boy, but most boys will usually lose their ability to walk and be in a wheelchair by the time they’re 8 years of age. Roughly around that area. My son was 14, almost 15 years of age. Did that have to do with the drug? We believe so.”

 

Making more treatments available

Eteplirsen is only approved for a small fraction of patients with DMD. The only other FDA-approved therapy, the corticosteroid Emflaza™ (deflazacort), isn’t a cure. Every treatment that gets marketing approval helps to move towards a cure and encourages the pharmaceutical industry to invest in finding new DMD therapies.

Betty Vertin, mother of three boys with DMD

“Getting one more through the door, getting one more approved, opens up the door. More companies are going to invest in Duchenne and be willing to go to bat for us, and those boys deserve that opportunity. So, even though this is a win for a small population of boys who will get access to the drug, it would be an even bigger win for the community.”

Darrell Knight, father of Jack Knight, a 17-year-old with DMD

“I think the FDA is looking for that home run ball, that in-the-park, grand-slam home run. For us, it’s not that at all. For us, it’s base hits. If we get a base hit here, a base hit there, we’re going to be in the ball game. We have to have the base hits, where they’re looking for the home runs. I think, if we can get them convinced that a base hit is worth it, then I think, we’re going to be moving on and I think it’s going to be very encouraging.”

 

Voices from the DMD community

The AdCom listened to voices from the DMD community. What they heard was compelling. Even if the clinical data didn’t convince them of this drug’s efficacy, their words – and message – had a positive impact.

Angela Willette Knight, mother of Jack Knight, a 17-year-old with DMD

“They gave us the opportunity to go and get more information. And they confirmed that what we do have is compelling. So, I think the fact that it is compelling is very huge. And we were heard, and that was part of the totality of the data and part of what went into the decision process.”

 

Anything could happen

The FDA typically follows the advice of its advisory panels. But, last year, an exception occurred when the FDA approved, for the first time, Exondys 51 (eteplirsen; Sarepta Therapeutics), a drug for children with a specific cause of DMD.

Our team feels very good about the positive feedback that the FDA gave to the DMD community. The story will continue on October 24, 2017, when the FDA will make a final decision. At this point, anything could happen.

Interesting links

https://seekingalpha.com/news/3298268-fda-ad-com-says-data-ptcs-translarna-inclusive-needed-prove-efficacy

https://pharmaphorum.com/news/fda-reviewers-slam-ptc-dmd-drug-ahead-key-meeting/

http://www.xconomy.com/new-york/2017/09/28/fda-panel-pans-ptcs-audacious-plan-to-force-vote-on-duchenne-drug/

Emflaza

Exondys 51 (eteplirsen; Sarepta Therapeutics)

Translarna (ataluren; PTC Therapeutics Inc.)

TAKING ACTION – PORTRAIT OF DUCHENNE – WHEN LIFE CHANGES

Alex Smith

CEO, Harrison’s Fund, United Kingdom

In this eighth interview of our series “ Portrait of Duchenne ”, La Fondation La Force talks with Alex Smith, CEO of Harrison’s Fund, a British-based, leading charity for research into Duchenne muscular dystrophy (DMD). Alex’s life changed when his son Harrison, now 11, was diagnosed with DMD. He decided to do something to make a difference.

 

Before diagnosis

Alex worked in brand marketing in an area near London, England. Every night, he came home to a lovely family, his wife and two sons. As a father, he had many dreams for his children’s future. He hoped that they would grow into productive young men, who would wed and start families of their own.

Alex wasn’t a sporty guy. For at least 20 years, he hadn’t worked out or participated in any sports. In fact, he was physically inactive.

He knew nothing about charities and how they worked.

 

After diagnosis

Then, his son Harrison was diagnosed with DMD.

“When it first happened, it was a really tough moment. The doctor, like (for) many other families, told us our son was going to die and that we should take him home and give him a good life. And, in that moment, our world changed, because it just felt incredibly numb,’’ Alex told us. ”

But Alex realized,

“I’m one of those people who needs to pick himself up and do something about it.”

He started Harrison’s Fund and dedicated his life to the charity.

“We raise money, raise awareness, then give that money to some of the best researchers in the world to try to make a profound difference to all children with Duchenne everywhere.”

 

Ironman

Alex has learned that every action, every movement counts. In 2016, he signed up for an Ironman competition to raise funds for research, but that wasn’t all. “What I wanted to do was (to) have something for Harrison that he could do with me.”

The two trained hard and raced to the finish line together.

“Finishing it with him was probably the most emotional day of my life,” Alex told us. “I remember coming around… the final finish corner with him, going running down the finishing chute, crowds everywhere, Dimitri with us, and he turned to me just before we went down the chute and said, ‘Daddy, we’re going to be Ironmen together.’”

 

DMD changes your life in a split second

The progression of DMD is unforgiving: the body’s muscles gradually weaken, leaving children with DMD in a wheelchair by age 12. They have a life expectancy of 20 to 30 years. There is no cure and, in Canada, no treatment for the cause. Two treatments for DMD are approved in the USA and Europe, but they don’t benefit all children with DMD. Promising treatments, in development, are expected within 5 to 10 years.

 

What’s next for Alex?

Stay rooted in the present. Enjoy every moment with your child. Be part of the solution.  

“The most important aspect of trying to remain positive is choosing to be positive,” Alex says. “Nobody else is going to do it for you, are they? You can’t sit back on your hands and expect everybody else to get it done, because they all need help as well.

 

“That allows the community, the global Duchenne community, when they see positive people, to keep hold of hope and to grasp it. And if they do that, then we’ll get there. And I truly believe we will.”

 

 

Acknowledgements

We thank Action Duchenne, who received us with open arms to conduct a series of interviews.

  

Action Duchenne   –   Harrison’s Fund 

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Watch Alex’s full story HERE