Stronger Tomorrow

The Doria family first learned about Loeys-Dietz when their son, Ezra was diagnosed. Later, their daughter, Iris, and mom, Krystalynn were also diagnosed with Loeys-Dietz type 2.

Iris was diagnosed at age 13 and Ezra at age 9.

While learning about LDS, the Doria family sprung into action to help other families like theirs. They partnered with the Tennessee Titans, their favorite football team, to do a ticket fundraiser to raise money for the Marfan Foundation/Loeys-Dietz Syndrome Foundation.

“We even bought tickets ourselves and went to Nashville for a game (we live in Florida) and at that game alone we raised over $1,000 AND we won! I am still selling tickets for more games this season but so far we have raised $1,600! We plan on making this an annual thing and we are very excited about it,” says Krystalynn.

Our story began during the COVID-19 pandemic. My 9-year-old son, Ezra, was at a routine physical when the doctor brought up the words "Marfan syndrome." He wanted him to get checked out since Ezra is tall and skinny and has pectus excavatum. So we got the genetic testing, and while waiting, I was absolutely terrified. In the meantime, he went to the cardiologist, where we learned he had a dilated aorta, and I had NO idea what that meant. I was constantly researching, and I spent my nights worrying and crying into my husband's arms while he reassured me that we would all get through this together

Over the summer, while still awaiting genetic results, I joined a Marfan syndrome Facebook page, which helped me realize that people with Marfan still live their lives, which comforted me somehow. I posted a photo of my son at the pool in the group asking for advice about swimming. Ezra was in the pool every day, and I was terrified about his little body hitting the water and causing problems. Well, a woman named Christy messaged me almost immediately and told me to make sure that the doctors check for Loeys-Dietz syndrome because when she saw that picture of my son, she immediately thought about how he looked like her own sons who have LDS

Well, of course, upon researching Loeys-Dietz, I was in even more of a panic! And you know what? As it turns out, fortunately, the doctor did include the Loeys-Dietz panel, and he was diagnosed with Loeys-Dietz syndrome, type 2. However, the immediate concern became my older daughter Iris, age 13, and whether she also had this gene. So she got her genetic testing done quickly after and then she, too, was diagnosed with LDS. I really wasn't expecting this because she didn't fit the typical LDS description the way Ezra did.

Fortunately, I had already joined the Loeys-Dietz Families Facebook page by this time, which has been nothing but a great resource. That group has helped me realize that being diagnosed with LDS isn't as scary as I first thought. It was so helpful that by the time I was diagnosed, I was no longer panicking. Instead, I am thankful that a doctor recognized the signs in my son and that now we KNOW. Knowledge is power, especially with this condition. Now that we know, we can take the proper precautions and monitoring, while living (mostly) normal lives.