diagnosed with spinal muscular atrophy: managing support, resources and your care team
9 minute read
a support network and dedicated health-care team makes the journey of spinal muscular atrophy better for everyone.
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when her young daughter holli was not meeting her gross motor development milestones – things like sitting without support or rolling over from front to back – susi vander wyk took her repeatedly to her doctor to find out if there was anything wrong.
eventually, a genetic test revealed holli had spinal muscular atrophy, or sma, an inherited motor neuron disease where specialized cells in the spinal cord and brain don’t function properly. motor neurons affect the voluntary muscles used for crawling, walking, head and neck control and swallowing.
there’s no cure for sma. it gets progressively worse, like other neurodegenerative chronic diseases such as parkinson’s disease and multiple sclerosis. parents like susi in chilliwack, b.c., have to stay strong as they watch muscles weaken, and their child needs more support.
“at that time, i was pregnant, so i had a son who was two, and then holli was diagnosed with sma, and they said my unborn baby could have a one in four chance of having it as well. it was a terrible time,” says susi who was told holli would never walk or live past age eight. “for many years, you know, they said there’s nothing that can be done. you just take your baby home and love them for as long as you’ve got them.”
although sma is mainly diagnosed in childhood – about one in 6,000 babies are born with sma – there are cases of adolescent and adult-onset sma that cause muscle weakness, trouble breathing and fatigue. the earlier symptoms appear, the more severe the disease. intellectual activity is normal with sma, and sensation and the ability to feel are not affected.
genetic tests showed that susi’s son and unborn child did not have sma. she chose to turn her fear into determination and joined other families to fundraise for sma research in canada. for the last 14 years she has served as executive director of the parent group that eventually became cure sma canada. the organization is the go-to for family support and community and is where patients and their families are typically referred by health-care providers. fundraising and advocacy by susi and her colleagues have helped bring new treatments for sma to canadians, including her daughter.
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holli is now 27 and teaching grade 2, fulfilling her dream to go to university and become a teacher. she took twice as long to get through her undergrad because she was physically not able to put in an entire day like other people. she’s highly capable in a power wheelchair and has a caregiver for helping with transportation and care at home.
here’s how you can manage a spinal muscular atrophy diagnosis.
work closely with your sma care team
having regular check-ins with a health-care team gives you access to expertise in a number of areas. because every person with sma is different, the members of your team and their involvement, can change over time.
first, a gp or family doctor helps coordinate referrals to specialists like a neurologist, or pediatric neurologist, to diagnose, help determine the care team and do tests for motor function. a psychologist or child psychologist may be recommended to provide counselling and guidance on social and psychologist concerns about emotions, development and the stress of living with sma. other providers may play a role as well, like occupational, speech, physiotherapy and respiratory therapists.
another key provider is a social worker to support families in navigating the healthcare system and community resources. sma my way canada is another comprehensive resource site with personal stories from people with sma on friendships, identity, self-acceptance, career and “fulfillment in many forms.” the site also has downloadable resources for travel, guide dog services, and a guide to multidisciplinary care teams with an extensive list of specialty centres for sma care across canada with website links and phone numbers for contact.
laura inhestern, a research scientist at the university medical center hamburg-eppendorf in hamburg, germany, has studied the impact of sma on patients and their families, noting that families face complex medical decisions and have to manage the demands of multiple therapies and assistive devices for breathing, feeding and personal care. specialty centres dedicated to sma are important to integrate families into the care model and address their stressors and concern.
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“healthcare management can be highly demanding for parents as informal caregivers,” she writes in the international journal of environmental research and public health. “psychological support, and access to information, resources and technical aid supplies have been identified as the central needs of families with a child with sma.”
her work has flagged the need for continued psychological support to help patients and families manage the emotional strains of sma: “offering routine, and low-threshold psychological support for affected children and their parents could unburden the families and prevent long-term mental consequences.”
research and new treatments like gene replacement therapy also need to be discussed with your care team. patient and family self-advocacy can open doors over time, says susi. cure sma canada has a list of treatments and eligibility criteria for each province and territory, helping to keep people informed and create awareness. treatment options have changed the care concept from palliative care to a disease-modifying treatment.
she notes that while federal government funds are given to the provinces and territories so that they can provide treatment for rare disease patients, access and coverage of new drug therapies falls under the regulatory system of each province and territory. there are new medications that have been shown to halt progression of sma and even reverse some muscle loss in some cases, but approvals and access can be a long wait.
“we are talking about a rare disease where we’re not talking about high numbers, but we are talking about a massive change of quality of life for these patients,” she says of her team’s advocacy work with physicians and government to bring critical therapies to canadians.
find support through peers or patient organizations
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reaching out for help when you have a child with a rare disorder that isn’t well-known or understood by the public, your friends, family or even your family doctor, can be a lifesaver. there’s a feeling of being isolated and overwhelmed by a diagnosis that typically comes in a hospital setting where genetic tests are performed.
susi talks about the value of peer support and the knowledge and resources of cure sma canada, the key national organization for sma.
“often the doctors will contact us themselves on behalf of the patient and say, please support these people,” susi explains, adding her team gather initial details on what type of sma the child has (there are four with varying levels of severity).
once families are registered, they are sent an information package that also has toys that the child will be able to play with – the toys were an initiative influenced by susi’s own experience. “i remember when holli was diagnosed and in december, i was walking around the toy store thinking she’ll never be able to play with that. what do we get her for christmas? and i was crying and it was very traumatic. so now we put items in there that a child will be able to play with, and we put things in for the siblings as well, because they are important, too.”
the aim is to support the family unit and provide that support through the years as needs change, along with sending out information about local activities, national conferences, support programs and research updates. cure sma canada also helps advocate for support in the school system, in the hospital setting, or with a specific physician.
another big support for families is the annual summer sma camp experience run by cure sma canada where sma campers, their siblings and parents all come for a week-long event in western canada or eastern canada for swimming, boating, obstacle courses, relay races and more in a space that has “no barriers for them.”
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as susi recalls, “i remember the first time we hiked to the top of the mountain with holli, the moms all cried at the top because we didn’t think that was something we’d ever be able to do. but we brought volunteers in that provide these activities like kayaking and scavenger hunts, and it’s for everyone.”
she says that some people who attend the camp have never spoken to another family with sma and come away feeling inspired and hopeful: “they meet someone that’s just like them and they see these abilities their kids have that they thought would never happen. who would think you’re going to go ziplining with your sma kid? it’s awesome.”
get informed about sma special needs
depending on your family’s needs, there’s a lot to consider about making your home accessible and finding the assistive technology and equipment for your child to boost independence and help with care. biogen, one of the biotechnology companies that has developed drug therapies for sma treatment, sponsored a resource website for people with sma and their families. it includes a section on activities and adaptations for your child’s success, with tips like these from families:
“lots of stretching and reaching and carrying. it’s every little day-to-day thing you do – our goal is to set her up for when she’s on her own. she clears her bowl from the table – it’s heavy for her but that’s therapy. lifting and holding and carrying; it’s all those little things.”
“local adaptive equipment lending libraries are hidden gems! they charge little to nothing for their services, and often have much of the equipment you need (wheelchairs, adaptive toilet seats, adaptive swings, etc.).”
“we keep a cup and a small basin in the bathroom where our daughter brushes her teeth. this way, she can brush her teeth while sitting down and we just rinse out the basin. this saves our backs because we aren’t trying to hold her up to the sink and is safer for her as well.”
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this resource site, for one, also has a comprehensive list of equipment for people with sma that can help spark conversations with your healthcare team on what could benefit your care, like the following:
- adaptive pushchair: a lighter, more portable alternative to wheelchairs, often used before a child is big enough for a wheelchair
- wheelchair: manual or a power chair usually controlled by a joystick, allowing for mobility without the help of others
- cough assist machine: people with sma have trouble coughing and colds can easily become pneumonia and hospitalization. a cough assist machine applies air into the lungs on inhale and reverses the flow on exhale to push out secretions that can be removed with a suction device
- pulse oximeter: measures oxygen percentage in the blood with a sensor to flag the need for extra breathing support if oxygen levels drop too low, particularly while sleeping
- bipap ventilator: machine that delivers higher air pressure when you breathe in to help with breathing
- car bed: suggested over a traditional car seat to allow children to lie down more comfortably in the car
celebrate the successes
a support network and dedicated health-care team makes the journey of sma better for everyone. as susi says, “it’s been challenging and like any parent will say, when you have a child with a diagnosis such as sma where it’s a serious life-threatening condition, life changes immediately and forever from that moment on. things become unimportant that you thought were, and you cherish everything. you celebrate minor advances of your child that other people would overlook. and the family unit becomes something that’s tighter.”
while sma has to be about acceptance and adapting, susi is quick to point out to families who call and email for support is that it’s going to be ok, the footwork has been done to bring treatment into canada.
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“their child is going to be accessing treatment, and it will make a difference in their child’s life. under no circumstances is it a cure, the child still has sma, we still have work to do in terms of, research to find better ways to manage the disease and to stop the disease. but with a diagnosis of sma, it is not what it used to be because treatments are available. but the most important message is you’re not alone.”
reach out to cure sma canada for more information.
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