News

I believe that my story is the perfect example of the power of awareness and education. Without those two things, a medical breakthrough, no matter how extraordinary, is rendered useless. My life, my daughter's, and future generations of my family will be followed by cardiologists, ensuring that aortic dissections do not suddenly and unknowingly take us away from our loved ones.

Growing up I assumed I was “normal.” I assumed my entire family was “normal.” For 36 years, I was not aware of Loeys-Dietz syndrome or that I was at risk from this genetic condition. In my school years, I suffered with severe allergies, asthma, and was diagnosed with a deviated septum after a spate of headaches at middle school.
Born in Telford in 1975, in Shropshire, England, I was the middle of three children.

I was born in 2004, exactly one year before Loeys Dietz syndrome found its name, so from the minute I took my first breath, I was a mystery. In comparison to my twin brother's healthy, squishy newborn frame, I was tiny and frail. My legs looked like they had been put on backward, and my fingers were crooked. Of course, everyone knew something was wrong, but no one in the world knew what that meant for me, what had happened, or how to fix it.

When our 12-month-old, Lincoln, was diagnosed with Loeys Dietz Syndrome, the first thing we and all of our providers thought about was what is Loeys Dietz syndrome and how do we treat it. A few said, "Its like Marfan syndrome, right?" We quickly learned through listening to lectures from previous conferences on the Foundation’s YouTube site that it was and so much more.

When Craig’s results came back negative for Marfan but positive for Loeys-Dietz syndrome we were so confused. We hadn’t heard anything about it, but after doing some research and talking to some of the best specialists in the states for this rare disease, we’ve come to know that it’s often referred to as Marfan’s evil cousin. Both are connective tissue diseases that cause weak tissue and aneurysms and dissections in the cardiovascular system. But Loeys-Dietz causes aneurysms and dissections throughout the body, not just the heart.

When Craig’s results came back negative for Marfan but positive for Loeys-Dietz syndrome we were so confused. We hadn’t heard anything about it, but after doing some research and talking to some of the best specialists in the states for this rare disease, we’ve come to know that it’s often referred to as Marfan’s evil cousin. Both are connective tissue diseases that cause weak tissue and aneurysms and dissections in the cardiovascular system. But Loeys-Dietz causes aneurysms and dissections throughout the body, not just the heart.

By Bridget Porter (Metz)

Thanks to a medical team that knew how to care for her condition, Yulia’s family is strong today. Yulia continues to learn and connect in ways that will make their tomorrows strong. Yulia’s family, their medical teams, and the LDS community – they are strongest together!

I'm still learning how to navigate the maze, but I'm finding my way with the help of many people. Like others have done for me, I hope to help others who are starting their own journey in the Loey-Dietz syndrome maze.

I am thankful that a doctor recognized the signs of Loeys-Dietz syndrome 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.

By Rebecca Matte

Over the years, Rebecca Matte of Delray Beach, Florida, has been told she isn’t typical of people with Loeys-Dietz. Some doctors told her she didn’t look the part. Others told her she had Marfan syndrome.