Connective Issues Winter 2019

reSeArCH & progreSS

I’m LIVING PROOF OF RESEARCH ADVANCES by Chris Heaney

those of us in need of ways to make our lives better now. As someone who has lived enough years to call himself a “High Mileage Marfan,” i'll share with you examples of the changes i’ve seen in clinical care over the years. i was born in the mid-1950s, when the life expectancy for Marfan was only 30 years. However, in that same decade, the heart-lung machine was first used in human surgery, and the 1960s saw the development of the first mechanical heart valves. by the time i needed my aortic valve replaced in 1984, all the pieces were in place to change the picture of my longevity. This past year, i went in for my annual echocardiogram and the tech doing the study commented that she had heard of the type of valve i have, but she had never seen one before. in that moment i realized my artificial heart valve was older than the tech doing my echo. This is exactly the

CHriS HeAney (CenTer) wiTH HiS pArTner, SAyLer SHiningSTAr, And dr. HAL dieTz, oF JoHnS HopKinS, A MeMber oF THe FoundATion’S proFeSSionAL AdViSory boArd And A 2018 reSeArCH grAnT reCipienT.

type of big leap forward you hope to get when you do the research into the kinds of pumps, filters, catalysts, medicines, and materials needed so my worn out heart valve at 28 years old wasn’t the end. As of today, my artificial heart valve has been helping me blow out birthday candles for more than 30 years. The research being done today will help refine our understanding of who’s a good candidate for [valve sparing surgery] and how the repairs hold up over time. we're now in the next phase of heart valve repairs, where valve-sparing surgery, which has the benefit of avoiding the need for long-term anti-coagulation therapy, is an option for some. The research being done today will help refine our understanding of who’s a good candidate for this approach and how the repairs hold up over time. biochemical research may one day lead to the identification of markers for who is more likely to develop vascular problems and possibly even non-surgical methods to avoid decline of tissue function.

“Research is what I'm doing when I don't know what I’m doing.” – Wernher von Braun each year The Marfan Foundation provides substantial funding for research grants. often the topics of the grants can seem esoteric or downright incomprehensible to most of us who are simply working on living well with a connective tissue condition. research is about working to understand how things operate at a fundamental level rather than applying what’s already known to build a particular thing. it may also take the form of refining new tools and techniques to make it easier to set up experiments. The hope is deeper insights will be gained as we understand more of what’s happening at a fundamental level, and that, in turn, may lead to big leaps forward in treatments. often the payback from research is only seen over time, and may come about from an angle the investigators never imagined when they began their work. The challenge of research is its uncertainty of outcome on a timetable we can’t determine—a difficult playing field for

6 Marfan.org