Growth Through Loeys-Dietz Syndrome

Eddie and Laura Papsun in North Carolina

In Sept 2002, I was married to Rick and we had a one-year-old son, Eddie. He had spent much of that first year in the ER or with doctor visits as he had experienced lots of illness. By this point, he had been tested for cystic fibrosis, had X-rays on his feet and chest, had tubes in his ears, had numerous nebulizer treatments, and had been tested and diagnosed with allergies to milk, eggs, peanuts, soy, and wheat. He was also behind in several developmental milestones.

The morning of September 14, 2002 seemed like a regular Sunday. As we were getting ready to go to church, Rick experienced acute and severe chest pain. His color turned ashen. Very quickly, he experienced what he described as a toothache in every individual tooth in his jaw and pain radiating down his left arm. He went from perfectly fine to severe distress within less than three minutes. I rushed him to our local hospital, where they did a battery of tests that showed nothing more than low blood pressure.

His condition deteriorated, and he began going into shock. With no alternative and no clue of what could be the cause, they transferred him by ambulance to Wake Forest Baptist Medical Center so he could have more detailed and advanced tests. When I got to the hospital, they escorted me immediately to see him in the ER. It was like an episode of a tv hospital drama had come to life in front of me, with more people than space crammed in to examine him.

After imaging his chest, they saw the culprit — a dissected aorta root. The surgical resident explained his aorta had a bulge (aneurysm) where it connects to the heart, and the inner layer of the aorta had torn, allowing blood to flow with each pump between the layers of the aorta and making it larger and larger. The news was grim. His only option for survival was emergency open heart surgery immediately.  The risks of complications and death were high.

He was taken to surgery at around 9:30 pm. I was finally able to see him in the ICU at 4:30 am. The surgery was successful. He was in ICU for a couple of days and in the hospital for a total of eight days.

After his recovery, we began the cycle of seeing specialists to determine what had caused this catastrophic illness. An incredible team in the genetic department, Dr. Tamison Jewett and Lori Patton Terry, diagnosed him with Ehlers-Danlos syndrome hypermobility type. Because it is genetic, they also examined our son, who appeared okay. However, Dr. Jewett scheduled an echocardiogram for him just to be sure.

The day after the echo, I received a call at work from Dr. Jewett. The echo showed Eddie had an aortic aneurysm in the exact same location Rick’s had been. She scheduled us with an appointment with the head of pediatric cardiology.

Eddie and Rick continued to be monitored with visits, medication, echos, and MRIs for several years. We learned to live with this connective tissue disorder, Ehlers-Danlos syndrome.

Fast forward to 2009. Rick was scheduled for a second open heart surgery — this time to repair his mitral valve. A week before the surgery he had his preoperative tests and scans. The surgeon called and explained his surgery needed to be cancelled as they had discovered he had a pulmonary embolism that needed to be treated. This didn’t fit with Ehlers-Danlos syndrome, so back to the genetics team we went.

In our appointment, Dr. Jewett explained another connective tissue disorder had recently been described by researchers at Johns Hopkins called Loeys-Dietz syndrome. Unlike Ehlers-Danlos, there was a genetic test for this so we would know definitively if this was the correct diagnosis. About three months later, we received the call from Lori that told us Rick had the mutation (it’s TGFBR1, for those interested) and, therefore, had LDS. We set up a time to bring Eddie in so he could be tested, although we knew it was really a formality.

Since that day in 2002 we have learned so much. The life expectancy of one with LDS has grown by leaps and bounds. There have been multiple surgeries, appointments, scans, and medications. We have learned that all those early health challenges Eddie experienced were tied to Loeys-Dietz syndrome. He has grown and thrived and become independent despite those challenges. He's now working in his dream career of golf, and recently got married!  

But he’s not the only one that has grown. As his mom I’ve been stretched in ways I didn’t think were possible. With the diagnosis, I became completely engrossed in this world of connective tissue disorders (which wasn’t necessarily a great thing), but now that he’s grown and on his own, I’m learning how to have my identity in more than that. However, no matter what the future holds or what stage of life I’m in, a part of me will always belong to this community of LDS mama bears and for that, I’m grateful.

While I would take away this condition and his mutation if I could, I have been blessed because of it. I learned how to be an advocate. I’ve made the most incredible of friendships. I have understood what it means to have hope in seemingly hopeless times. I have met pure rock stars within the medical community, and I am a better person because of the Loeys-Dietz Syndrome Foundation and community. We truly are “strongest together”.