A Twist of Fate – Arterial Tortuosity Syndrome

Aiden was two when he had two separate hospital stays about six weeks apart for a pneumonia type illness. It wasn’t until the second stay that they started looking closer as to the reason for the illnesses being so close together. Aiden was soon scheduled for a heart cath. The doctors knew that there was tortuosity, but were using this to see what Aiden’s body looked like, so they could make a plan for him.

I will never forget seeing his cardiologist, Dr. Fontenot, walking around the corner, he seemed very concerned and deep in thought. I can’t imagine what it was like for him to round that corner and know he was going to have to sit down and tell me what he was about to say. They had never seen anything like what Aiden had before, but had an idea of what it could be. At that point in time, Aiden was the first Arterial Tortuosity Syndrome patient that they have ever seen and only the 2nd known in the U.S. at that time. They could not tell me a diagnosis, a prognosis, other than Aiden was currently stable, but they were going to have to do further surgery if they had any hope of saving him.

That night Dr. S. Kahlar spent many hours with us, studying Aiden and researching. It wasn’t until Aiden had the blood drawn for the genetic test and the results came that we knew he indeed did have arterial tortuosity syndrome. Talk about having a hard time learning how to spell it and say it correctly, but it didn’t stop me from researching on my own and ended up helping Aiden’s physicians come up with a plan to save him. With my research I was able to connect the only other physician in the United States who had seen an ATS patient and Aiden’s team together to come up with a plan.

The surgery was experimental, for it had never been performed on an ATS patient in the U.S. before.

In September 2010, Aiden went in to the O.R. for Pulmonary Patch Plasty, they basically opened his chest and reconstructed his pulmonary artery. They had to do something because that artery had grown so long that it had a hairpin kink in it. This surgery would help the doctors better access his pulmonary artery and help them to relieve the pressures in his heart, which was already starting to enlarge. In December 2010, Aiden went back into the cath lab and Dr. Fontenot was able to balloon the left pulmonary artery. We didn’t know until after Aiden came out of the lab that he ended up with a pulmonary reperfusion injury, meaning his lung couldn’t handle the new blood flow and it causes the lung to partially collapse and bruise. His left lung which was starved for blood flow, now had adequate flow.

His next time in the cath lab was the summer of 2013, where they found a tear in his pulmonary artery. Dr. Fontenot placed a stent over that area, to help protect it from rupturing. Aiden had been a walking aneurism waiting to happen and we had no idea. Since then he has been doing very well. Aiden did have several pneumonia type illnesses and ended up being put on Flovent, after the cath in 2010.

A seven day stay in one hospital, a mediflight to ACH and another three days there for pneumonia this past January were very scary, but prompted the beginning of our nonprofit. The thought of almost losing him made me want to contact all of the ATS families in our group and ask questions about each of the issues they have had and how the doctors handled it. I knew it was imperative that we make an emergency plan and to share it with the other families.

In March, three new ATS patient families contacted me and I immediately contacted Aiden’s physicians at ACH. To my delight, it has prompted a 5 year natural history study on ATS, and the beginning of our patient group and nonprofit, A Twist of Fate-ATS. We have worked very hard to obtain our 501c3 status, send a proposal to the CDC for an ICD code for ATS, and become recognized as a patient group by NIH and Genetic Alliance. We are currently working on plans for our first patient conference to be held in Little Rock, AR, July 31 – August 3, 2015.