Connect Issues Spring 2021

THE STONE FAMILY p Brothers Steve, Mike, Mark, John, Dave (Buck) – Goofing around at a family wedding. Four of the five tested positive for Loeys-Dietz syndrome.

The Stone family story is about unanswered questions and perseverance. It affects multiple generations, visits to many medical professionals, and spans decades. Through it all, the Stone family story is one of awareness.

AORTIC DISSECTION IN THE FAMILY In 2009, the Stone family lost a second family member to aortic dissection. The first loss had been nearly forty years prior. “Several of us are tall and lanky and flexible, with some eye problems and scoliosis mixed in,” said Steve Stone, who was diagnosed with Loeys-Dietz syndrome in 2019, the first among 21 Stone family members to eventually get this diagnosis. With these characteristics and the family history of aortic dissection, “we were all looking at Marfan.” But those tested were negative for Marfan syndrome and had aortic measurements that fell within the normal range for the general population, so the questions remained. Then, in early 2019, Steve’s brother died. The cause again was aortic dissection. Six weeks later, Steve found himself in the emergency room for a suspected stroke, which turned out to be a carotid artery dissection. IF NOT MARFAN, THEN WHAT? “When that happened, it became a lot more critical to figure out what was going on,” Steve recalled. He started collecting every piece of medical information he could get from his siblings and cousins. Across dozens of relatives, Steve encountered detached retinas, aortas measuring over 5 cm, cases of scoliosis, and a mix of other useful details. He collected family autopsy reports, with the idea of presenting everything to his doctors. Steve visited his primary care physician and then a local thoracic surgeon; both attempted to assure him that everything was normal. But to Steve, it was clear

p Steve giving instructions for an annual family “Survivor” weekend with over 40 adults and kids competing.

6

Marfan.org