Simon Cantos takes in the view from the 103 floor of The Skydeck at the Willis Tower in Chicago. Cantos considers himself an advocate for and mentor to others with COL6 congenital muscular dystrophy.
One morning in 2018, Simon Cantos received a call from his pulmonary team at Penn Medicine because they’d noticed something unusual from the data his home ventilation machine had sent into the office overnight. With a little troubleshooting, it turned out Cantos had just gotten a new mask for the machine, and he’d slept on it in a way that broke the seal enough to let out too much oxygen — luckily, an easy fix. For patients with neuromuscular disorders like Cantos, who has muscular dystrophy, this is just one slice of the multidisciplinary care they get through Penn’s Jay and Randy Fishman Program for Home Assisted Ventilation, and a snapshot of the encouraging leaps in treatment patients have seen within their lifetimes.
“The evolution of care for muscular dystrophy patients has been astounding and something that has advanced significantly over the last 15 years,” said Cantos, 38, who says that when he was diagnosed at age 22, he was only one of 50 patients nationwide with COL6 congenital muscular dystrophy (CMD), also known as Ullrich CMD. “When I was younger, there was very little to no information for my specific type of muscular dystrophy. I was originally diagnosed with congenital muscular dystrophy, which, at the time, was a vague term that was given to those who exhibited symptoms of muscular dystrophy from birth. There was little to no information or any concrete action plans for care when I was diagnosed.”
Ullrich CMD is extremely rare, and means patients have an issue with collagen production that weakens their muscles, including the lung muscles they use to breathe and cough. That’s why Cantos uses an at-home ventilator and a cough assist machine.
John Hansen-Flaschen, MD
John Hansen-Flaschen, MD, is a pulmonary physician and director of the Jay and Randy Fishman Program for Home Assisted Ventilation, which began treating patients with conditions like amyotrophic lateral sclerosis (ALS), cerebral palsy, chronic obstructive pulmonary disease (COPD), severe scoliosis and more in 2017.
“Not long ago, many people with severe nerve, muscle, spine, or lung disease died when their breathing muscles could no longer keep up with the need to breathe. Many children born with a congenital nerve or muscle disease such as muscular dystrophy, spinal muscular atrophy, or severe cerebral palsy died of respiratory failure before adulthood,” Hansen-Flaschen said. “For patients battling these diseases, weak breathing muscles also lead to difficulty swallowing, coughing, and clearing mucous. Lung infections and pneumonia were common complications, leading to long hospitalizations and premature death.”
This has changed with recent dramatic advances in home respiratory support where machines have been adapted to be used at home, allowing patients to live safely and thrive in their home setting. When needed, patients wear a face mask attached to a home ventilator the size of a shoe box to assist their breathing while they sleep at night and sometimes also during the day. The machine assists each breath to allow the respiratory muscles to rest. The treatment team sets up home ventilators with a telemetry device that allows them to measure and monitor ventilator usage and function continuously through the internet. Potential issues are discovered and solved before they cause problems, as was the case with Cantos.
Liam Miller is captain of the Philadelphia Flyers PowerPlay, a powerhockey team. Photo Courtesy: GTA Sports Photography – Powerhockey Canada.
But Cantos’ story differs from other patients in the sense that he entered adulthood before programs like this — which are few and far between — came into existence. He has become a friend and mentor to Liam Miller, 23, who at age 2 was diagnosed with the same form of rare CMD. Their contrasting experiences shine a light on just how far treatment has evolved.
“In many respects, things were much easier for Liam as he was able to grow up with a lot of advice and support from myself and the support groups that were established soon after we were diagnosed. This was something I never had growing up,” said Cantos, who still saw pediatric doctors well into his 30s, before the Penn program was established.
Miller said, “As soon as I turned 18, this program was formed and I just transitioned to it like nothing happened. But for those before me, they might not have had the support I do now from Penn Medicine. That is where I see the future of this program impacting people.” Adding that he considers Cantos to be “like an older brother to me at this point. He is one of the older members of our CMD community so I've always looked up to him as I've gotten older and gone through the things he did first, such as going to college, driving, living independently, having a job, and more.”
If you asked both men how they’re doing today, they’d tell you they’re thriving. College degree in hand, Miller is working his first full-time job in computer science, and also finds time to serve as team captain for the Philadelphia Flyers PowerPlay, a powerhockey team where the athletes participate with their wheelchairs. Some athletes even play with their ventilators.
“I would not be able to sleep if I didn't have a ventilator to help me breathe at night. It is that crucial! Besides sleep, I use a BiPAP machine, a small ventilator that pushes air into my lungs, to get a boost of energy in the afternoons when I’m feeling tired and I often use it when I can feel a migraine coming on,” Miller said. “Lung function is really important for staying in shape to be able to play. Working with the people at Penn Medicine has allowed me to stay healthy enough to play the game I love. Because of the ventilation therapy, I'm able to breathe better and thus play better as a result.”
Cantos is passionate about cars, including adaptive driving, and works to help others learn more about the topic.
Cantos, who works in engineering, is passionate about cars, and is regularly requested to host sessions at conferences, write articles, and talk on podcasts about adaptive driving and adapted vehicles to give parents and young adults information and advice on the topic. He enjoys making videos on the subject for his YouTube channel. In his free time, he enjoys tinkering with his own adaptive vehicle, and also participated with the Philadelphia Flyers PowerPlay for a short time. Both patients know they’re in good hands when it comes to their medical care. For Hansen-Flaschen, seeing his patients thrive is what pushes him to keep pushing the boundaries of what’s possible.
“What’s special about this program is how closely we work with specialists in other areas,” Hansen-Flaschen said. “For needs beyond respiration, consultations are seamlessly coordinated with collaborating specialists in neurology, sleep medicine, physical medicine, and cardiology, who also provide some of the best care in the country right here at Penn Medicine. Patients get the whole package.”