What is Loeys-Dietz Syndrome?

Loeys-Dietz Syndrome (LDS)  is one of the lesser known connective tissue disorders that affects the entire body. According to the Loeys-Dietz Syndrome Foundation, people with LDS exhibit craniofacial, skeletal, skin, cardiac, and ocular differences. The foundation also notes that allergies, GI diseases, and organ ruptures are characteristic of LDS. 

Most people reach an LDS diagnosis because of a heart condition, which is its main characteristic. Another important part of understanding LDS is caused by a mutation in the gene makeup of a person, which means it affects the person for a lifetime. 

What is the significance of the term chronic when talking about Loeys-Dietz?

LDS is considered a chronic condition. There is no way to cure it, so you can only manage it. This aspect is something that jumped at me when I was first diagnosed. By the time I was diagnosed had been following a heart condition for almost 8 years and every time I saw a new doctor or nurse they would look at me funny and as calmly as possible ask if anyone had talked to me about Marfan Syndrome (a similar condition to LDS). They had, but my results came back negative in 2012 when I was tested for Marphans and types 1 and 2 of Loeys Dietz. 

So after 7 years of living with all my random medical problems, and 9 months of not recovering correctly from lung surgery, I was both relieved and overwhelmed with my LDS type 4 diagnosis. I was so happy to finally have a name for my condition, but it was intimidating to think that it was never going to go away. Especially because it was making me awful! 

The reality of “chronic” is that there is no cure, but there is definitely a balance. I have to find the right balance of foods, sleep, medicine, exercise, and mental strength to feel my best. It is a full time job to do that, but when that is as close as I will get to a cure, it is worth it. The truth is, everyone faces the daily balancing act, but when you have a chronic condition, the line between balanced and unbalanced is much narrower.

How has this diagnosis changed your life?

The diagnosis changed my life in many ways. It gave me a much deeper understanding of myself and my experiences. It also changed some of my priorities and plans. LDS has taught me how to be patient with myself, and changes the way that I approach conversations. Most importantly it has changed my daily life. 

What is different about daily life knowing you have Loeys-Dietz?

My daily life has changed in several ways. A big thing is what I eat. Through the diagnosis I discovered that I have some severe allergies that I did not recognize were more than just sensitivities! (How that is possible, I still do not know.) I had to change most of my diet, increase my time reading labels in the grocery store, and learn about ingredients of beauty products and medicine. 

Another big thing is that cut how many commitments I made in a day. In high school I was the kind of person who ran several clubs, tried challenging classes, edited the yearbook, had activities outside of school, and was committed to helping drive my three sisters around when they needed it. And I was 100% committed to being reliable for everything. During my lung surgery recovery I had to learn that it was ok to say no to commitments when I am having a flare up of symptoms. 

These are all things that are daily challenges, and lessons that I am still learning. Which brings me to my last point: there are good days and bad days. When there is a bad day, there is no reason to punish yourself for it, instead learn from it. Why did it happen, and what can you do next time to prevent it? Is this something that I should ask about in my next appointment? Essentially, my daily life has changed because I spend a majority of my time seeking balance, and I now have better tools and motivations to reach that goal.