MONROE, N.C. - One North Carolina mother is trying to educate people about a rare-disease. It’s called Loeys Dietz syndrome and it can be deadly if left untreated.

What You Need To Know

  • The month of June is Loeys Dietz Awareness month

  • Alison England says four people in her family have the disease, including herself

  • Loeys-Dietz is a disease caused by the enlargement of the aorta, which delivers blood from the heart to the rest of the body

Alison England says from the outside, her son, Connor, looks like every other kid. He enjoys playing basketball and loves hanging out with his dogs. But at the age of 10, he has been through quite a journey.

“I found out he was positive, so obviously that is devastating to hear,” England said.

Connor has Loeys-Dietz syndrome. It’s a rare disease caused by the enlargement of the aorta, which delivers blood from the heart to the rest of the body. If untreated it can lead to deadly aneurysms.

“It is very scary, I watched my father go through this at the time,” England said. “We didn’t know what it was.”

As it turns out this is an illness the family knows all too well. England was diagnosed with Loeys-Dietz in 2015. Shortly after, doctors realized it’s a disease her father had been living with for some time. Her son was diagnosed in 2016 and her brother in, David, in 2017.

“On the top of our heart, all three of us have had an aneurysm right at the aortic root,” England’s brother, David Brooks said.

All three had to have heart surgery to reduce the risk of rupture. According to the National Library of Medicine, there’s a 50% chance of genetically passing this syndrome down to offspring. The family was able to detect the illness thanks to genetic testing. 

“If we had never known we had it, any of us could have had issues, could have died long ago,” England said.

It is why she wants to educate people about what the disease is and the option for genetic testing. 

There is no cure for this disease, but with early diagnosis doctors say it is manageable. The symptoms can vary widely and it can be hard to diagnose without genetic testing.  Atrium Health in Charlotte has a division of specialists to address the disease.

“We really want to identify individuals who have this syndrome early, before something like a dissection occurs, and that can be difficult if there are not a lot of signs or symptoms,” Atrium health Cardiologist Dr. Matthew Lisi said.

For more information on the disorder click here.