What It’s Like To: Spread Awareness for a Rare Disease

Kaitlin Jones, who grew up in Irvine, is living with VEDS, a rare genetic disease that claimed the life of her brother at age 34.
Photograph by Emily J. Davis

My brother, Trevor, was 17 when he woke up one morning in 2004 with a ton of chest pain and went to urgent care. They thought maybe he had a collapsed lung, but he got sent to a hospital and they found that it was an aortic dissection. He ended up having two major surgeries to replace his aorta. 

They were questioning why this 17-year-old had an aortic dissection. It’s not a normal thing. So they flew him to the Mayo Clinic. They were able to find VEDS (vascular Ehlers-Danlos syndrome) through genetic testing. 

We had never heard of VEDS, even though my family had already suffered complications. At the time, there was no one to guide us on what to do, how to monitor. Eventually, we got our whole family tested, and we traced it up the family line that my mom and both of her sisters had it, and that it came from my grandmother. Then I have two cousins who have it and one of the children.

I got diagnosed in 2014 officially. My mother died of breast cancer. She just had so much guilt about passing this gene onto my brother. I assumed that I had it, so I waited until she passed to get tested. 

About one in 50,000 (in the U.S.) have this disease. It’s a connective tissue disease that stems from a mutation in the gene that makes type III collagen, which is important for the elasticity of connective tissue. If your vessels don’t have this proper collagen, then they’re more prone to tear and dissect and rupture. You can have bowel separation, uterine ruptures during pregnancy—all of these can be life-
threatening emergencies, and so the life expectancy for people with VEDS is 51 years.

My brother had his second surgery in 2010 and was fine. He was living a good life. He chose to go through IVF with his wife, so they had a daughter who did not have the disease. She was born on March 26, 2021, and then in October, we were on a family vacation in Alabama. My brother and his wife were in an Uber, on their way to do some sightseeing, and out of nowhere an artery ruptured in his lungs. They had to pull over and call an ambulance. By the time they arrived at the hospital, they were unable to save him. 

I try to focus on the positive. He wasn’t driving when it happened, so he didn’t put my sister-in-law in danger. He wasn’t with the baby when it happened. I’m grateful that my dad and I were in the area, so we were able to at least say goodbye to his body. 

After my diagnosis, I was spearheading the search to find a specialist who knew more about VEDS who could guide us. Ultimately, thankfully, we were able to find Dr. (David H.) Liang. I was searching for five years until Dr. Liang opened the (Hoag Marfan Syndrome and Related Conditions Program) clinic. Now my whole family is being treated by him. 

In this moment, I am alive and well and I have so many people in my life whom I love and who love me. My niece is now almost 2, and she is the biggest joy in our lives. I have an amazing job as a physician assistant where I feel like I’m able to give back to the community working with cancer patients. I’m engaged to an incredible man.

Living with a rare disease is tough because there’s not enough awareness or support. I have been through more tragedy than most people know in a lifetime, and I’m only 32. It’s scary to know that my life may be cut short, but I do try to live with the motto that my mother passed on to my brother and me: Choose joy. At the end of the day, I want to stay hopeful that we can get that awareness out there, get more interest in our rare disease, and get more fundraising and donors to help fund the research that could really save lives.
—As told to Valerie Takahama

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