February, the rare disease month

Because it manifests itself only rarely, Duchenne muscular dystrophy (DMD) falls within the rare diseases category. It is also a treatment orphan disease. Since this is February, it is pertinent for us to tell you about it. 

 

Rare Disease Day takes place on the last day of February each year. The primary objective of Rare Disease Day is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives. 

Building awareness of rare diseases is important because 1 in 20 people will live with a rare disease at some point in their life. There is no cure for the majority of rare diseases, and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.

The first Rare Disease Day was celebrated in 2008 on 29 February, a ‘rare’ date that happens only once every four years. Ever since then, Rare Disease Day has taken place on the last day of February, this month is known for having a ‘rare’ number of days.

This information was provided by rarediseaseday.org.

 

A few distinctions …

  • A rare disease is defined as a disease that affects less than 1 in 2000. DMD affects 1 in 3500, which makes it a rare disease.
  • The RQMO estimates that, in Quebec, nearly one in 20 is afflicted by or carrier of a rare disease, for a total of almost 500,000 Quebecers. Many rare diseases are chronic, progressive and fatal. The CORD estimates approximately, 3 million Canadians and their families face a debilitating disease that severely impacts their lives.
  • Nearly 75% of these diseases affect children, and about 80% of them are genetic.
  • The term “orphan disease” is often confused with the term “rare disease” because the vast majority of rare diseases are orphans in many ways.
  • A medical condition is referred to as an orphan disease if there is no treatment for the disease other than treating the symptoms. For example, prednisone is a medication that affects the symptoms but not on the cause of the disease.

The rarity of these diseases creates obstacles and needs for afflicted people both in our health system and in society in general.

The Quebec Coalition for Orphan Diseases (RQMO) works to provide information and support to patients, their families, and healthcare professionals. Their website is full of relevant information both for professionals and caregivers. These rare diseases are often of little interest to researchers and organizations who fund research. The RQMO aims to advance knowledge about the various rare and orphan diseases by promoting exchanges between patients and researchers.

The Canadian Organization for Rare Disorders (CORD) is Canada’s national network for organizations representing all those with rare disorders. CORD provides a strong collective voice to advocate for health policy and a healthcare system. CORD works with governments, researchers, clinicians and industry to promote research, diagnosis, treatment, and services for all rare disorders in Canada.

February 28th is the Rare Disease Day to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

We wish to emphasize that the information contained in this article come mainly from the RQMO website, the CORD website and the Rare Disease Day website.

We thank them.

 

About DMD

Duchenne muscular dystrophy (DMD) is a disease that affects boys almost exclusively and whose incidence is 1 in 3,500. It is extremely rare that Duchenne muscular dystrophy (DMD) will affect girls. Those affected are usually diagnosed around the age of five, but symptoms may be visible from early childhood. It is a degenerative disease of the muscles caused by a genetic mutation. Duchenne muscular dystrophy (DMD)—for which no treatment is currently available—directly affects skeletal muscles. Without treatment, the consequences of the disease are dire for those afflicted and their families. More about DMD here

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And if art became a cure?

Victor was diagnosed with Duchenne

DMD is an incurable and 100% fatal disease. Duchenne muscular dystrophy is a rare genetic disorder that affects mainly boys. The progression of DMD is unforgiving: the body’s muscles gradually weaken, leaving the boys in a wheelchair at the age of 12, with a life expectancy of 20 to 30 years. Today there is hope for DMD, and several new treatments are on the horizon.

Raising Funds and Awareness to Access New Treatments

Within the next 5 to 10 years (or even before then), some new treatment options should be on their way to completion. At this time, two treatments are approved in the US and Europe, but not yet available in Canada. Therefore, educating people about what Duchenne is and about access to new treatments is extremely important. It will help children like Victor access the new treatments rapidly before the disease has evolved to much.

An excellent way to get everybody to care about Duchenne is by sharing your “words of wisdom.”

 

And if art became a cure?

This text was written by Jean-Philippe Morand, which was initially published in the group “Clan Morand” adapted for the La Force blog.

 

 

JP: “Shortly after it was announced in 2011, that my son Victor, then 5, had a degenerative—and especially—incurable disease, I decided to fight against Duchenne muscular dystrophy (DMD)). This disease that afflicts Victor and thousands of others was not going to take over my family’s life.”

 

Jean-Philippe, a sportsman by nature, set up Dystrospin. This fundraising activity, having seen six previous editions, consisted of 10 hours of “spinning” with 500 participants. Jean-Philippe also ran marathons and drove hundreds of kilometers with Victor, his son, to show him that anything is possible. This allowed them to collect over $ 100k for the DMD cause and research.

 

The “Clan Morand”

Victor is now 13 years old, and his brother Vincent is 11 years old. The two brothers wanted to get involved in the cause of research for Duchenne muscular dystrophy, each in their way. The Morand Clan was born. Vincent will participate in sporting events with Jean-Philippe and Victor will contribute to the cause with art.

Victor is an artist in the making, and he already produces beautiful paintings. Many people around him have already placed orders; Vic’Art’s paintings are exhibited at home and friends’ houses. He’s passionate about it! He wants to make a career out of it and maybe make a living from his art one day.

 

 

And if his art could allow him to find a cure for his own illness? Clan Morand is Victor’s art and sport serving the DMD cause.

Feel free to contact Victor via the Facebook page (here) and place your order at Vic’Art! For each canvas sold, the buyer is invited to donate the same amount to the La Force Foundation.

 

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.

 

Sharing our stories is a step towards healing

We invite you to share this story in your community

Donate to our organization here so we can help the DMD community to be heard.

 

Other interesting articles

 

We thank the Morand family for their involvement in the DMD community, and for allowing us to publish their story.

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Raising my son with Duchenne

Living with Duchenne muscular dystrophy is difficult. I understand it because I live this reality every day. Duchenne muscular dystrophy forces you to live the moment and enjoy it even more.

Christine Winslow from Johannesburg South Africa shared her story on the Facebook page of her son, Jason, who lives with DMD. She wants this to help one or more families and to reassure those who live the same thing. The Force supports this excellent initiative. With the approval of Christine Winslow, La Force shares her story with you today.

We invite you to share your story with us here.

 

“My GP scribbled the word “Duchenne” on a Post-it and told me to go home and read about it. That was the day our lives changed forever.”-Christine Winslow

 

Raising my son with Duchenne

Christine had a problematic pregnancy. Jason arrived two weeks earlier. At 7:28 pm, Jason Parker Winslow was born at Victoria Hospital in Seychelles. She would never have known that her baby would be born with a fatal muscle disease like DMD. As Jason grew up, he had no muscle tone, and his parents had to put pillows behind him when he played with his toys. Jason’s parents had noticed that when he interacted with children of his age, he didn’t babble like them. He wasn’t trying to crawl and was rather happy to play alone.

“I remember thinking, is it my fault? Perhaps I wasn’t doing the right thing or teaching and helping my child correctly.”-Christine Winslow

 

Something was wrong

At about two years old, Jason still wasn’t walking. “I decided one morning to stand him up and hold his hands tight to play a game. He fell many times, and after many tries, he finally got the hang of it. He was taking a few steps, and it was a breakthrough in our house. Finally, we were making progress.” -Christine Winslow

People would compliment his huge calves. Christine recalls that a lady had said, “Look at those beautiful big calves.” At that moment she did not know that it was one of the traits of Duchenne muscular dystrophy. Christine always felt that her entourage was wondering what was happening.

 

“You end up isolating yourself with your child because it’s too exhausting and hurtful to have to explain it all. The worst was when parents would interfere and say, “relax or stop panicking let him go off”: as a mom you know something’s wrong and you need to be cautious.”-Christine Winslow

 

It’s tough to see your child undergo as many tests and evaluations. Parents spend a lot of time at the various intervention centers with their children. Occupational therapy, speech therapy, physiotherapy, the list is long. Jason had several symptoms of Duchenne muscular dystrophy. If only he had been diagnosed quickly, they could have started the treatments sooner. “Instead, we were forcing him to climb stairs.”-Christine Winslow

 

The Doctor scribbled the word “Duchenne” on a Post-it

July 2013, Jason was six years old.

“He had the flu, and off to the Doctor we went, not expecting the visit to end as it did. The Doctor prescribed medication, and we were walking out when he called us back. The Doctor noticed Jason’s waddle and requested Jason to squat. I explained that he couldn’t. He scribbled the word “Duchenne” on a Post-it and told me to go home and read about it. Recommended we go to South Africa for testing.”-Christine Winslow

She called her husband at work and told him the news. He immediately started to google. Later that day, he arrived home and told his wife what he had read.

 

“It felt like darkest coldest day ever. It felt like everything around me was crumbling. Shock fear and confusion, I don’t even think I remember what he said after.How on earth could that be? A fatal muscle wasting disease? Jason had the biggest calves so how could it be.”-Christine Winslow

 

This family did not know much about DMD. After their visit to South Africa, she sat on the plane thinking that the result would be negative. It could not be positive. It could not be the DMD. “Our perfect little family couldn’t possibly go through something as devastating as this.”-Christine Winslow

After months of waiting for genetic test results, sleepless nights, the result has arrived. It was positive. Jason had Duchenne muscular dystrophy. This family learned that their only child had DMD. The illness entered their home and told them that Jason would stop walking at age 12 and would have a life expectancy in his twenties.

 

Duchenne changes a person

 

“Duchenne changes a person. It changes your relationships with friends and family.There are friends and family that will support you on your journey, and there are others that will drift away. Do they not know how to act when they see Jason in his chair? You don’t receive an invitation because it’s too much for them to handle?”-Christine Winslow

 

Christine smiles and tries to stay positive. She remains strong for her family. But she is also a mother who raises a son with DMD as best she can. This mother gives us her feelings in all honesty. “I will say that it is not always the easiest thing to watch another child score a goal or climb a jungle gym. The bitterness and anger creep in”-Christine Winslow.  Why is his son confined to a wheelchair? The feeling of injustice is big. At the same time, there is another voice that says she had to make this trip.

 

“I’m still not completely sure why but I do know that it’s made me a better person. Not to take things for granted.”-Christine Winslow

 

Jason has not been walking since March 2017. Endless appointments with doctors and specialists are always very demanding and emotional. Not to mention the many sessions in therapy.

Christine continues to educate the public about DMD. She continues to hope that there will be a treatment one day.

 

“I will travel with my son, go on adventures, make memories and make each day count.”-Christine Winslow

Special thanks to the Winslow family

 

 

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