Chief Executive of Cardiomyopathy UK
Joel Rose is a charity professional and volunteer and has served as Chief Executive of Cardiomyopathy UK for the last seven years. He has dedicated his career to various charitable causes and is driven by the desire to improve the lives of those he serves. With a passion and talent for rallying people around an important cause, he is hopeful that by promoting awareness and support for cardiomyopathy, time to accurate diagnosis and care will continue to improve.
Cardiomyopathy UK is the specialist national charity in the UK for people affected by cardiomyopathy, a condition that affects the heart muscle. Their vision is that everyone affected by cardiomyopathy should live a long and fulfilling life.
Joel Rose is one of the World Heart Federation’s (WHF) “heart heroes,” nominated by Pfizer, a sponsor of the World Heart Day campaign that features people on the frontlines year-round for cardiovascular health.
Cardiomyopathy is a disease of the heart muscle that encompasses a group of conditions affecting the structure of the heart and its ability to pump blood around the body. It is often under-diagnosed and there are many different causes, including inherited conditions, impacting lives from young to old.
“Heart problems come in all shapes and sizes,” says Joel. “One starting point to get to the root of the problem is understanding that not all heart problems look the same and it is crucial to banish preconceived notions that might exist about what a heart patient looks like. This helps us stay objective and pursue all avenues for an accurate diagnosis.”
One such under-diagnosed condition is transthyretin amyloid cardiomyopathy, or ATTR-CM, which is a type of cardiac amyloidosis. ATTR-CM occurs when transthyretin, a transport protein that naturally circulates in the blood, becomes unstable. The unstable protein misfolds, creating amyloid fibrils that can build up in the heart and other parts of the body. The build-up causes the heart muscle to stiffen over time, eventually leading to heart failure.
Joel wants to call attention to those conditions that he describes as “hidden in heart failure.” He is referring to an umbrella of heart conditions and symptoms that can sometimes mask deeper causes, like ATTR-CM, delaying diagnosis and much needed treatment. “It’s really important to understand the aetiology and to pinpoint underlying causes of cardiac problems, including genetic causes, otherwise the patient faces a protracted struggle and we might also miss an opportunity to test relatives.”
ATTR-CM, for example, is classified either as “wild-type,” which is associated with aging, or it can be hereditary. Symptoms of cardiac trouble due to ATTR-CM can manifest as those of more commonly known causes of heart failure, making accurate diagnosis and timely treatment a challenge. Often, several tests are needed to suspect and confirm a diagnosis, including an electrocardiogram (ECG) and echocardiogram, a pyrophosphate (PYP) scan along with blood tests to rule out another type of cardiac amyloidosis (known as light-chain amyloidosis), and a genetic test.
Joel believes that genetic testing also has an important role to play in the prevention of heart disease, through facilitating earlier diagnoses. “Prevention of heart disease is very much about lifestyle, nutrition, and exercise, yes, but knowing family history and factoring it into the equation is also a significant part of prevention. We need to follow the trail, test, diagnose, treat early, anticipate complications, and get others to be tested too. The more we can draw a family tree, the better we become at curbing illness, treating symptoms, and improving quality of life,” he says.
Genetic testing can also be important to ensure loved ones understand if they might be at risk of a hereditary heart condition. In the case of a patient who has been diagnosed with ATTR-CM, genetic testing may be conducted to determine if it’s the hereditary type, and that information, along with education about the condition, can be shared with family members, which may help them suspect the condition earlier if they start experiencing symptoms. “Apprehension and uncertainty of coping with the unknown adds a difficult dimension to the physical toll of cardiac amyloidosis,” says Rose. “Education and awareness campaigns are helping to unlock knowledge and shed light on previously little understood heart muscle diseases.”
Charities such as Cardiomyopathy UK help connect those touched by heart muscle disease, either personally or through diagnosis of a loved one. Joel believes psychological support and compassionate care for patients, their families, and caregivers is just as important as medication, especially if the cause is genetic. Often, a patient’s entourage is impacted for diverse reasons, be they practical, emotional, or both. Peer support is a boon and a lifeline offered by Cardiomyopathy UK to help navigate a weighty diagnosis.
Cardiomyopathy UK runs annual national conferences for patients and affected families, with at least 350 attendees. In addition, medical education courses recently launched and online attract attendance by around 300 clinicians. Research, advocacy, and case studies bolster activities and campaign initiatives. At any given time, 20 trained volunteers, including some who have experienced a loved one’s received diagnosis, work with local health systems and infrastructure on the change agenda, a 16-point plan put together by Cardiomyopathy UK to receive the best possible care for cardiomyopathy patients that would allow them to live well with their condition. Part of the Change Agenda calls for all cardiomyopathy patients to be considered for genetic testing and this is improving, says Joel, which bodes well for earlier diagnosis and more targeted ongoing care.
Rose’s optimism comes from years of experience in charity leadership. He does not see the glass as half-full but hopefully, simply full in years to come. As he reminds us, “heart heroes can be anyone, can come from any area of medical care or research, or from policy, industry and beyond. Patient groups, clinicians, drug developers and others all have a role to play. Ultimately, we are heart heroes when we bring stakeholders together because no single sector alone can improve cardiovascular health. Through our respective missions, we can contribute our maximum to a cause benefitting society and improving and saving lives.”