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It was supposed to be just another routine checkup. But this time, Rachel Carnegie's cardiologist didn't like the sound of her heart.
Neither Rachel nor her mother, Tori, thought anything of it before that visit. The then-18-year-old was born with a heart condition. Discovered shortly after birth, the cardiac defect would prevent her from any rigorous physical activity during her childhood and teenage years.
In the days leading up to the appointment, both mother and daughter were more concerned about Rachel's increasing shortness of breath, which left her unable to walk further than a few feet or eat a meal without taking a break.
On the recommendation of her cardiologist in London, Ont., Rachel was referred to the Peter Munk Cardiac Centre (PMCC) in November 2015 to see Dr. Eric Horlick, a cardiologist specializing in congenital and valvular heart disease.
She was diagnosed with severe aortic stenosis (narrowing of the aortic valve obstructing blood flow) and later, with pulmonary embolism (blood clots in the lungs).
For any other patient, this would have been devastating news. But for Rachel, already living with a chronic inoperable brain tumour leaving her legally blind, this was just another obstacle to overcome.
The dual diagnosis of a brain tumour and cardiac condition makes Rachel's case especially medically challenging. By contrast, the now 20-year-old is unfailingly optimistic with a signature warm smile and soft chuckle as she jokes around with her mother and brother in the hospital hallways.
"You just got to get back on and keep going – I live my life by that rule," says Rachel, who has been an avid horseback rider since she was a toddler. "Fall off the horse, get up, brush yourself off, and get back on again."
A lifelong medical journey
Rachel's medical challenges began when doctors discovered her original heart condition at eight days old. She was diagnosed with bicuspid aortic valve disease (BAVD) with mild stenosis and moderate regurgitation (leakage of blood through the valve) at four months of age.
The aortic valve connects the heart and the aorta – the main artery from the heart to the body. It normally has three small flaps that open and close to regulate blood flow. Patients with BAVD only have two flaps, sometimes preventing the aortic valve from functioning properly.
At age 16, after an eye exam performed for a change in vision found a mass pressing on her optic nerve, Rachel was diagnosed with craniopharyngioma, a non-cancerous tumour located near the pituitary gland.
She underwent several brain surgeries to remove the cysts that kept growing off the core of the tumour. Extra stimulation to her pituitary gland meant she went through puberty very quickly. Rachel's heart couldn't keep up with the rate that the rest of her body was growing.
Rachel underwent an attempted valvuloplasty in April 2016 in the cardiac catheterization lab, a relatively routine procedure. The procedure involves insertion of a catheter (a long thin tube) into an artery or vein in the groin to the heart, where a balloon is then inflated to push the valve open.
It was during this procedure that Dr. Horlick and his team discovered her arteries were too narrow and deep to proceed safely. The procedure was aborted without being able to treat her valve.
Rachel's family sat in the waiting room, anxious and hopeful, but realized from the look on Dr. Horlick's face three hours later that the procedure hadn't gone as planned.
"He put his hand on my shoulders and he says, 'Don't you start to cry because if you start to cry, I'm going to start to cry,'" recalls Tori. "He started to cry because he didn't want to have to put her through anymore, knowing her history and everything that she'd been through."
Despite not being able to complete the procedure, Dr. Horlick characterized it as
re-evaluating the plan.
"Sometimes in intervention, you have to recognize when things are outside of the bell curve and then you have to have enough confidence in yourself to say, 'I'm making a correct decision here and I'm going to find a different way forward,'" says Dr. Horlick.
Back to the drawing board
After the first procedure, Dr. Horlick called Dr. George Oreopoulos, a vascular surgeon at the PMCC, to help him figure out a new plan.
"I still hadn't fully grasped the extent of the challenge but the fact that he was coming to me with this issue highlighted that this was not going to be a straight-forward problem," says Dr. Oreopoulos.
Dr. Horlick described their approach to the complicated case as "inching." He explained that when cardiologists listen to a heart, they inch – they start in one area, wiggle over just a little, and listen again. Their movements are slow and measured, with fine attention to detail – exactly how the two physicians had to approach Rachel's case.
First, they worked on obtaining a CT scan (X-ray images) to get measurements of Rachel's arteries. This scan revealed another problem – a pulmonary embolism. After this diagnosis, Rachel found out that she needed a brain operation more urgently which caused a delay in treating her.
The challenge was that she needed her heart valve to be dilated, which required a balloon of a certain size. In order to insert the balloon in a minimally-invasive way, it would have to be through an artery at the top of the leg, and the artery had to be a minimum size to accommodate the balloon.
Rachel's Medical Journey by Age
8 days: Doctors discover a heart murmur
4 months: Diagnosed with bicuspid aortic valve disease (BAVD) with mild stenosis and moderate regurgitation
16 years: Eye exam uncovers brain tumour near the pituitary gland
18 years: Referred to the Peter Munk Cardiac Centre (PMCC)
Diagnosed with severe aortic stenosis and pulmonary embolism
19 years: Aborted first procedure in the cardiac catheterization lab at PMCC
20 years: Underwent successful surgery and intervention in a hybrid operating room at PMCC
Together, they decided the safest option would be to perform a surgery to expose the artery at the top of the thigh and if necessary, the lower part of the pelvis to place the equipment and repair the valve. Using this approach, they would have the maximum control over the artery to complete the procedure safely.
Rachel came back for the second procedure in March 2017, this time in the operating room. The surgery lasted for over six hours and required a six-inch incision near her groin.
"There are some points in every surgeon's operation when we get a little bit more tense and anxious about whether we're going to succeed or have a big problem," says Dr. Oreopoulos.
During Rachel's surgery, that moment came when the tubing inserted stretched the wall of her artery so thin that they could see through it – an unusual situation. They were concerned that the damage to the artery could cause it to tear, leading to catastrophic bleeding. But the team remained determined.
"Very often, I'm treating patients at the last part of their life span where I always want to do my best for the patient but fundamentally, they're not going to have many years left to count on," says Dr. Oreopoulos. "For Rachel, being a younger patient, who had faced a lot of medical challenges already, she needed a break."
Collaborative cardiac care
Rachel's second procedure was successful in part because of the interdisciplinary collaboration at the PMCC.
"The thing that makes what we do different is the integrated practice model where when each specialist encounters a challenge or problem, we're not just thinking about our own individual skill set…we're thinking about all the other tools, skills, knowledge, and equipment that our colleagues have available," says Dr. Oreopoulos.
Adds Dr. Horlick, "We work together often, and when you call someone you know, it's different than calling someone you've never spoken to before. It means you can have a discussion and work it through together."
Pooling medical knowledge and expertise makes a significant difference in challenging situations and often the payoff is better outcomes for patients, according to Dr. Horlick, an interventional cardiologist, who relied on Dr. Oreopoulos, a vascular surgeon, to arrive at a successful result in Rachel's case.
It wasn't just the physicians who contributed to Rachel's care. At one point, she had trouble sleeping in the ward room surrounded by mostly older male patients. She remembers how the nurses pushed to get her a private room so that she could rest better. She also fondly recalls the anesthesiologist who knew that Rachel's small veins made it difficult to insert IVs, and insisted on being the one to care for her.
Focused on the now
Since the surgery, Rachel is concentrating on recovery and regaining her strength. "I've been amazing," says Rachel. "Before I couldn't get up and walk to the bathroom that was five feet away without getting out of breath."
Today, Rachel continues to ride horses. She also canoes and kayaks, rides the four-wheeler at her grandparents' farm, goes skeet shooting with her twin brothers, and hand-makes greeting cards.
After being in and out of hospitals for countless appointments and procedures over the past four years, Rachel and her family are now focused on making the most of the present.
"We try not to plan too far in the future because it's just one day at a time," says her mom Tori. "You can't count on tomorrow."