what it feels like: 'you need to advocate for yourself' with congenital heart disease
congenital heart disease occurs when the heart’s chambers, walls or valves, or the blood vessels near the heart don’t develop normally before birth, according to the heart & stroke foundation of canada.
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approximately 260,000 canadians live with congenital heart disease, two-thirds of those adults.
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being diagnosed with a serious heart condition as a mere baby is scary enough. not knowing if you’ll be able to access the specialized care you’ll need throughout your lifetime further amps up the anxiety.
shortly after jennifer mulder was born at toronto’s north york general hospital, she turned blue, a sign that there was not enough oxygen in her blood. doctors placed her in an incubator for a few days until she was stabilized and strong enough to go home. at her two-week check-up, her pediatrician, who also happened to be a cardiologist, picked up a murmur through his stethoscope.
he sent her to sick kids hospital, where an echocardiogram confirmed his concern. mulder was diagnosed with:
- tetralogy of fallot (tof) with pulmonary artery atresia (tof-pa)
- major aortopulmonary collateral arteries (mapcas)
- ventricular tachycardia (vt)
in other words, a serious form of congenital heart disease (chd). she was now on a life-long journey accessing that specialized care.
what is congenital heart disease?
chd occurs when the heart’s chambers, walls or valves, or the blood vessels near the heart don’t develop normally before birth, according to the heart & stroke foundation of canada.
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doctors diagnose the disease either during pregnancy using ultrasound or at birth during a physical examination if the baby shows symptoms of abnormal heart rhythm, such as bluish skin, rapid breathing, weight loss, or poor feeding.
about one in 100 canadian children is born with a type of chd, according to the canadian congenital heart alliance (ccha). approximately 260,000 canadians live with chd, two-thirds of those adults. there are roughly 40 types of chd, ranging from mild to moderately complex to highly complex.
the cause is often unknown but can include:
- the fetus being exposed to maternal illnesses such as fever, diabetes, or rubella
- smoking, alcohol or drugs during pregnancy
- exposure to air pollution or pesticides
- inherited genetic defects and chromosomal abnormalities
mulder, who is now 41, was diagnosed with the highly complex type. among other issues, she doesn’t have a pulmonary artery, which carries deoxygenated blood from the heart to the lungs.
“instead, i have a hole between my ventricles on the lower chambers, and i have mixed blood at all times,” says mulder, who wears oxygen most of the time.
in march 2002, when she was 19 and in her first year of college, doctors implanted a cardioverter defibrillator in her chest. over the years, she would have five such defibrillators. in 2016, she was assessed for a possible double heart-lung transplant but opted against it. “i felt that it was not in my best interest for the quality of life i wanted to have,” she says.
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while she says navigating the healthcare system has been relatively smooth, mostly because her particular chd is so severe, transitioning from her pediatric cardiologist to an adult cardiologist was “non-existent.”
“i was a patient at sick kids, and all of a sudden, i was a patient at toronto general. you just got your next appointment, and you showed up at the hospital. you had no idea where to go. it felt very cold and big and intimidating.”
she says patients today often have the opportunity to meet physicians at the adult cardiology clinic, so they know where they will be going and who will be treating them. however, there are still gaps in the system regarding transition, mental health support, and access to cardiologists with a specialty in adult chd.
overcoming gaps in the healthcare system
there are 16 centres across the country dedicated to treating adult chd, and there is a shortage of cardiologists specifically trained to treat this complex heart condition (there are more pediatric chd cardiologists). as a result, patients scheduled for surgery often have a long wait.
dr. andrew mackie, a pediatric cardiologist at stollery children’s hospital in edmonton and a professor at the university of alberta’s faculty of medicine and dentistry, says one reason for the shortage of specialists is the length of training involved — two additional years on top of the six for a general cardiologist. another comes down to cold, hard cash.
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“there are other areas of cardiology where people can earn a higher income, so it’s not the best-compensated specialty within cardiology,” he says. “but if we can interest more cardiology residents in the adult chd specialty early in their training and shorten the duration of training without compromising the quality, i think that would help.”
patrice lindsay of the heart & stroke foundation says she’s optimistic it is happening. “it is a very specialized area [but] we are seeing a growing number of people who have been training in cardiology who are now interested in this field. as it grows, the interest from health professionals is growing with it.”
she concedes that many patients must travel to access specialized clinics. “part of our strategy has been to increase communication and coordination between all the different centres to increase that access.”
she says that while provincial health plans cover most of the care, many families who live outside major medical centres face financial pressures just to access that care. “children who live in provinces that don’t offer certain advanced procedures — manitoba and saskatchewan, for example — would often go to toronto or edmonton. their parents are required to put out for travel, accommodations, food, and childcare if they have other children at home.”
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mulder, who had to leave her job and is now on long-term disability, says she’s lucky that her husband has an excellent health insurance plan through his work to help with medical costs.
there is also the challenge of transitioning. children with chd are followed by a pediatric cardiologist until they are 18 when they are handed off to adult care. but, for a variety of reasons, including the shortage of adult chd-trained cardiologists, a quarter of patients fall through the cracks.
“some [patients] are under the misconception that they’re cured from their chd,” says mackie, who focuses much of his research on identifying and mitigating issues faced by adolescents transitioning to adult care. “others have difficulty accessing adult chd care because they live far away from tertiary care centres and they don’t have the means to get themselves to appointments. some have other priorities in their lives that take precedence over their heart defect, like going to college or getting a new job and not wanting to miss work for medical appointments.”
he says having more outreach clinics away from major cities will help. however, there is not enough funding for the human resources to staff such clinics.
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but, he warns, the consequences of not transitioning could lead to late detection of new problems, resulting in premature death. he says one of the ways the field is trying to remedy that is to properly equip these young adults with the requisite knowledge to care for themselves.
“one of our jobs as pediatric providers is to prepare our adolescent patients for becoming an adult with chd, which means having some knowledge about their heart, having some self-management skills and self-advocacy skills, taking daily responsibility for their health condition in conjunction with their providers. we emphasize that they are not cured. their heart might be doing well now, but they are at risk of potential complications in the future and need lifelong follow-up.”
he adds that, even though the young adults will now be taking on the responsibility for their own care, parents need to be a part of that transition process, to advocate for their child and support them through it. “that includes letting go of some responsibilities over time and letting their young adult child take on some responsibilities like scheduling appointments, renewing prescriptions or talking to the doctor instead of having mom answering all the questions.”
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ongoing chd research and development
lindsay says ongoing chd research is looking into causes, new therapies and procedures, and how to minimize the impact on children by not having to undergo repeated surgeries. “there are so many areas that need attention. we take one mountain at a time.”
over at stollery, mackie and his team are developing a transition app, which he hopes can build on the cardiology nurse-led training sessions currently on offer. the technology can also be a resource for patients living in rural areas who don’t always have access to care.
“i’m also excited about the potential benefit of peer mentorship as a source of social support for young adults going through the transition process, which we’re also working on,” he says.
mental health and palliative supports for chd
it’s challenging enough being a regular teenager, but even more so for a teenager with a heart defect. “they want to be normal teenagers. they want to go out and party with their friends, and sometimes they can’t,” says lindsay. “for kids with more severe conditions, it affects their whole growth and development, their sense of belonging, that sense of feeling normal. kids tend to have higher mental health issues, and unfortunately, mental health services, especially for kids facing these conditions, is really lacking. you want to see [a therapist] who understands somebody with chd.”
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mackie says there is variation from one medical centre to another, but in general, adult chd centres have fewer resources than those on the pediatric side, meaning they are less likely to have a social worker or psychologist on staff.
according to the ccha, about half of all chd patients grapple with anxiety, depression and isolation.
“mental health care is a huge burden and under-treated and under-resourced in canada,” says mackie, noting that some patients also have cognitive delays and need extra help and resources. “but it’s something the pediatric cardiology community can advocate for on an individual level to do our best to set patients up with mental health providers.”
although she sees a psychotherapist and is on anti-depressants, mainly because of what she calls the trauma of her condition, mulder agrees there is nowhere near enough mental health support for those with chd.
she leans on others going through a similar journey with whom she’s forged close bonds. “we call ourselves the broken hearts club,” she says. she also participates in annual camps organized through the ccha that bring patients together to participate in activities and to listen to speakers on chd topics and research.
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she also sees a gap in palliative care. “patients are living longer, which is an amazing thing, but they don’t have access to the palliative programs like the kids do. here in ottawa [where she now lives], there’s a pilot project at the university of ottawa heart institute [involving] a heart failure cardiology specialist who is doing the palliative care. that doesn’t exist anywhere else, as far as my knowledge. they’re helping guide patients through the last few years of their lives. i think there’s more of that needed in the community.”
for mulder, most of her care is through the ottawa heart institute. for other issues, she visits toronto general hospital twice a year because their defibrillator clinic has a congenital electrophysiologist who specializes in heart rhythm conditions. she also sees a palliative doctor, who is also a cardiologist, every six to eight weeks, as well as her family doctor.
in 2021, mulder was diagnosed as palliative. “that means that there’s nothing left they can do for me in terms of treatment,” she says. “so, no more procedures, no more surgeries, no more medications that will benefit me. they basically manage my symptoms as best they can, and i ride it out as long as i can until i pass.”
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she says she relies on friends for support and attends weekly programs through hospice care ottawa, where she socializes with others in similar circumstances.
she encourages others with chd to ease their journey through the system by asking questions. “talk to your doctors, your nurses, your pharmacists. these people have tons of education that is readily available to you, and when you know and understand your condition, you can advocate better for yourself. people get nervous, thinking the doctor must know best. that’s not true, especially with chd. patients know their bodies best because we’ve lived with it from day one. so if something’s not right, you need to advocate for yourself.”
to learn more about chd, check out the information and resources offered by the heart & stroke foundation, the ccha, the cardiology unit at sick kids, and the western canadian children’s heart network.
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