Living with Spinal Muscular Atrophy

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LIVING WITH

SPINAL MUSCULAR ATROPHY

When Rebecca Van Fraassen was two years old she was diagnosed with spinal muscular atrophy (SMA), a rare genetic disorder. Mediaplanet spoke with Van Fraassen to learn about how living with SMA has impacted her as she grows older.

Physical Limitations Aren’t Stopping Rebecca Van Fraassen From Living Life to the Fullest Tell us a little bit about yourself, your health journey, and your diagnosis.

I was born healthy. I rolled, I laughed, I crawled. It wasn’t until I was supposed to start to walk that my parents noticed something was different. My parents became concerned about why I was missing the milestones that a healthy child would have easily achieved. They brought me to see many doctors and specialists trying to find answers. I was diagnosed with SMA at the age of two. From the age of four my wheelchair has been a prosthesis for my legs.

SMA interferes with my ability to get from place to place, and I depend on an electric wheelchair for my mobility.

What’s the biggest misconception about SMA? I face challenges on a daily basis and I'm perceived differently by others because I depend on a wheelchair instead of my body. I'm often looked at with sympathy and confusion when I pass people on the street, or awe and shock when I reference anything about my social life. My perspective as an individual who relies on a wheelchair provides a distinct lens to more accurately reflect the complexity of the aesthetic–affective process of discriminatory behaviour that creates

barriers of access to the environment. In my lived experience, the primary barrier I face with my disability is prejudicial attitudes, a product of historical segregation and invisibility formed on the basis of aesthetic difference. It's important to recognize that these barriers are constructed through systematic ideals, not the limitations of what's possible for me and my body.

Have you seen your condition impact you differently as you get older?

Although I've always had some mobility, maintaining my independence has become increasingly challenging as I've gotten older. SMA is a disease that causes my muscles to slowly weaken over time, and it has taken away my ability to walk independently. My body has changed with my deteriorating muscles, giving me a curved spine and tilted hips from muscles that are too weak to support my body. It's impossible to have any real health of body and mind if you are found alone trying to heal from the diseases that arise from too much civilization and too little empathy. As humans we share passivity and vulnerability through our embodied experiences, while our practices have ethical implications for each other. It's important to bring attention

to how my condition impacts me differently as I age. As an artist, my work questions the relationship between representation and embodiment, in order to recognize society as a cosmology of individuals being in constant flux.

What advice would you give to Canadians who have recently been diagnosed with SMA or who have a loved one who has recently been diagnosed?

While the body is a vessel to society for able-bodied individuals, transmitting the physical self to the environments we inhabit, the wheelchair is the legs of my vessel to the surrounding world.

My wheelchair is designed for my individual needs and is customized for my body. When I think about my life, it doesn't incite direct associations with disability, but rather how I'm able to overcome the environmental limitations of society by my own body and mind. I believe there is a greater power in understanding my illness, that by locating my body in space I'm able to recognize my ability to act on the world. As an individual I hold my own power to seize life itself and to define my capabilities beyond the barriers of my environment.

Research and Development Are Crucial to Discoveries in Rare Disease Spinal muscular atrophy is a complex rare disease that affects approximately one in 6,000 babies born. Without treatment, it’s possible that children won’t be able to meet important developmental milestones like sitting up on their own or walking. Because of this, access to treatment is extremely important. We sat down with Susi Vander Wyk, the Executive Director of Cure SMA Canada, to understand how research and development could help increase access to treatment for Canadians living with rare diseases.

Susi Vander Wyk Executive Director, Cure SMA Canada

What does investment in Canadian research and development in rare diseases mean to you?

ment changes that fear to hope and planning for tomorrow.

Investing in rare disease research and development provides hope for a future for patients affected by rare diseases. Many of these diseases are progressive and debilitating by nature.

Without the development and ultimate access to these therapies, the future is frightening for what it holds. Treat-

When talking about the future of gene therapies, what's the outlook from a patient perspective?

Innovative treatments such as gene therapy completely change the course of the disease. We have patients who were fortunate to access gene therapy through clinical trials or a

managed access program who experienced meeting physical milestones that were absolutely unreachable to patients without access in the past.

These families will never have to experience the devastation of helplessly watching their children grow weaker and weaker, and they'll never have to come to terms with the impact of the fear of illness and death of a member of their family.

Strategic Account Manager: Madison Trajkovski Strategic Account Director: Jessica Golyatov Country Manager: Nina Theodorlis Designer: Lauren Livingston Content & Production Manager: Raymond Fan Web Editor: Karthik Talwar All images are from Getty Images unless otherwise credited. This section was created by Mediaplanet and did not involve Toronto Star or its editorial departments. Send all inquiries to ca.editorial@mediaplanet.com. @MediaplanetCA

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New Treatments for SMA Provide Options for Patients SMA treatments can help patients maximize independence and preserve functioning that's vital to their daily lives, but access hurdles remain.

Abigail Cukier

H O L L I VA N D ER W Y K H O R S EBAC K R I D I N G W I T H H ER S I ST ER , A M Y VA N D ER W Y K

H

olli Vander Wyk will graduate from the University of British Columbia next April and then pursue her Bachelor of Education on the way to her dream of becoming an elementary school teacher. The 24-year-old also Dr. Aaron Izenberg works with her horse doing clicker Neurologist, training and is the Cure SMA Canada Sunnybrook Health Sciences Centre, Family Camp Director.

Assistant Professor, This is a very different outlook than Division of Neurology, the one her parents were told to expect University of Toronto when she was a baby.

“They basically told my parents to take me home and love me as long as they could because there was nothing they could do,” says Vander Wyk. As a baby, after initially being able to crawl, Vander Wyk stopped and couldn’t bear weight on her feet. Soon after, she was diagnosed with type 2 spinal muscular atrophy (SMA), a rare and progressive neuromuscular disorder caused by a genetic mutation, which affects one in 6,000 babies born worldwide. While SMA doesn’t affect intellectual capacity, it causes progressive physical degeneration and loss of motor neurons within the spinal cord, leading to muscle weakness and atrophy, particularly in the shoulders, hips, and back.

Weakness in the legs is generally greater than in the arms. Sometimes feeding and swallowing can be affected, as well as the muscles involved in breathing and coughing, which can lead to an increased tendency for pneumonia and other lung problems. There are four types of the disease (1, 2, 3, and 4) based on key motor function milestones.

Type 1 is the most severe form of the disease, while type 4 is the least severe.

Treatment options for SMA

To learn more about SMA, visit Cure SMA Canada at curesma.ca.

For complete information on SMA, consult a physician.

Vander Wyk’s parents worked hard to maintain her mobility and strength.

They set up an indoor pool in her garage for daily exercise. “The strength that I have today, I definitely have to thank my parents for that. Without them advocating and doing the best they could to make sure I had everything I needed, I wouldn't be in the position I'm in today,” Vander Wyk says. “My disease has progressed over the years, but I'm still able to walk through water, because I've been doing that since I was diagnosed.”

Vander Wyk, who uses a motorized wheelchair, says she struggles with fatigue, strength loss, and energy loss, and needs help with some daily tasks. She carefully balances school, her care and her social life to help maintain her energy.

Until recently, only supportive therapies, which include respiratory and nutritional support, orthopedic care, and physical and occupational therapy were available for people living with SMA. Now, there are new disease-modifying treatments that have been developed which may give some hope to people living with SMA. "For adults, the hope is that these

treatments can help preserve functioning,” says Dr. Aaron Izenberg, a neurologist at Sunnybrook Health Sciences Centre and an assistant professor in the Department of Medicine, Division of Neurology at the University of Toronto. “Though the evidence is more limited in adults than in children, it is possible that these medications could slow the progression of the disease. They could alter the trajectory in adults and preserve functioning, leading to better quality of life and more independence.

Know the Facts Diving into the statistics behind spinal muscular atrophy (SMA), a rare genetic disorder that affects Canadians of all ages.

What is SMA? SMA is a progressive neuromuscular condition that affects the motor neurons in the spinal cord SMA affects approximately 1 in 6,000 babies born, and about 1 in 40 people are genetic carriers

What causes SMA? H O L L I VA N D ER W Y K

But Izenberg says it is difficult for adult patients to access these medications and that access varies between provinces. Some patients are able to do so through their private insurance company or provincial government programs. ”The earlier these treatments are started, the more of an effect they will have,” he says.

Every small gain is a victory Vander Wyk says these new treatments could be life-changing. “They affect everyone differently but even the smallest gains are a victory,” she says.

Recently, Vander Wyk started a treatment aimed at slowing the progression of her disease. It's too early to tell how her new treatment is affecting her, but Vander Wyk hopes it will help her continue doing what she loves, like ground training her horse, Fire, and becoming a teacher.

“I've always wanted to be a teacher.

I love the idea of working with little kids and helping them become the person they're going to be,” says Vander Wyk, who as a child would set up a classroom in her home to “teach” her younger sister.

Vander Wyk grew up attending SMA Camp, which is run by Cure SMA Canada. She is now a Camp Director.

“The camp shows kids that they're like everyone else. Kids can just be kids,” she says. “It's one of the reasons I am who I am. I grew up being like, ‘I'm just like everyone else. I may do things differently but I will still do everything that everyone else does.’ I love being part of that for other kids.”

For people who don’t know much about SMA, Vander Wyk hopes they'll educate themselves and help increase support from the government to fund research and access to treatments. She wants others with SMA to know that they're strong. “There are always people out there who will support and love you no matter what,” she says. “Don’t give up and advocate for yourself.”

THIS ARTICLE WAS BROUGHT TO YOU BY ONE OF CANADA’S LEADING RESEARCH-BASED PHARMACEUTICAL COMPANIES.

SMA is caused by a mutation of the survival motor neuron (SMN1) gene, leading to a deficiency of SMN protein

How is SMA expressed?

Depending on the type, SMA can affect an individual’s: ● Physical strength ● Ability to eat, swallow, or drink liquids ● Ability to walk ● Ability to breathe

Of people living with SMA… 60% are untreated and the need for continued therapeutic innovation remains Canadians wait more than 450 days longer for access to new medicines than those in the U.S. and Europe References: Cure SMA, “About SMA”, Available at curesma.org/about-sma/ Anderton RS, Mastaglia FL. Advances and challenges in developing a therapy for spinal muscular atrophy. Expert Rev Neurother. 2015;15(8):895-908. doi: 10.1586/14737175.2015.1059757.

PMID: 26200127.

Fraser Institute, ‘Timely Access to New Pharmaceuticals in Canada, the United States, and the European Union.’ Available at: Timely