Connect Issues Spring 2021

that something was not at all normal. “They told me to ‘go live your life and come see me again in six months.’ I did not like that answer,” Steve said. Armed with files upon files of family medical information and the knowledge that Marfan syndrome was not the answer to his question, he asked a family friend and cardiovascular surgeon to review his case. This is where Steve’s perseverance paid off for him and his family. “[The surgeon] told me, ‘You don’t have Marfan. I’ve got an old colleague. I’d like you to go talk to him.’ And that is how I met Dr. Braverman,” recalled Steve. Dr. Alan Braverman is the director of th Marfan Syndrome Clinic and Center for Thoracic Aortic Disease at Washington University School of Medicine and Barnes-Jewish Hospital in St. Louis. He is also on The Marfan Foundation's Professional Advisory Board. In December of 2019, after meeting with Dr. Braverman and Dr. Willing, genetic counselor, Steve decided to undergo genetic testing. Steve was ready to sign up for whatever it would take to get an accurate diagnosis. “It was great to find somebody who was willing to figure it out. I was excited about having an answer, but nervous about what that answer would be and mean,” said Steve. A NEW ERA OF AWARENESS When genetic testing results came back, Steve received a call from Dr. Braverman with the answer to the Stone family’s 10-year- old questions: It was Loeys-Dietz syndrome. “That’s when it was real. Everybody in the family needed to be tested – all my brothers and sisters, my dad's brothers and sisters, and their kids," said Steve. "I posted a message in our family Facebook group on February 20, 2020, telling everyone what I had and how the genetic testing worked.” Finally armed with a confirmed diagnosis, Steve dove into understanding the condition and what it meant for him, and an increasing number of his family members. Across the generations before and after Steve, there were 100 people who could also potentially be affected. Though it took many medical professionals and a couple of decades, the confirmed diagnosis, along with the information available to them about Loeys-Dietz, will undoubtedly save the lives of generations of their family to come. “Now we can probably look back and see the signs more clearly, but for so long there just didn’t seem to be enough pieces to put the puzzle together,” said Steve. Altogether, 22 Stone family members have either passed from aortic dissections (likely related to Loeys-Dietz syndrome) or have been diagnosed with LDS, with more family members yet to undergo genetic testing. Awareness is the start that the Stone family needed to live with the knowledge of their limitations. “It’s changed our mindsets and how we live in some ways, but it’s a relief to know,” said Steve. It took losses and time, but what was once a story of unanswered questions has transformed, through perseverance, into an incredible story of Loeys-Dietz syndrome awareness.

June is Loeys-Dietz Awareness Month and we are ready to celebrate! Grab freebies, order swag, and register for all the free activities at LoeysDietz. org/ldsmonth. Highlights CONNECT June 16 - Caregivers Chat @ 7 pm Eastern June 19 – Paint Parties (register by 6/12) @ 2 & 4 pm Eastern June 22 – Happy Hour Chat @ 7 pm Eastern June 27 – Virtual Scavenger Hunt (register by 6/25) @ 5 pm Eastern June 29 – Young Adult Chat @ 7 pm Eastern LEARN June 15 – Making Meaning of Grief: Personal Perspectives Webinar @ 7 pm Eastern SUPPORT June 3 – (Un)Corked Culinary Edition with Dr. Hal Dietz and Gretchen

MacCarrick, MS CGC June 9 – Loeys-Dietz Awareness Day of Giving

Connect with us on social to get all the latest details for Loeys-Dietz Awareness Month.

@loeysdietz

@LDSFoundation

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Spring 2021