The Miracle of Not Going to Medical School

Craig and Ceriisa Boyd. Craig was diagnosed with Loeys-Dietz syndrome after demonstrating a heart scan on himself to show his children how it worked.

For Loeys-Dietz Awareness Month, here is my husband, Craig’s story. It’s interesting because Craig actually has few physical features of Loeys-Dietz syndrome other than his height, long limbs and long fingers and toes, scoliosis, and aneurysms. We never would have guessed anything was actually wrong with him.

Originally, Craig was planning on going to medical school and got in at Midwestern University. However, at the last minute, he felt strongly that he shouldn’t be doing that and wanted to be home and more present. So, we continued our move to Arizona and he started a year-long imaging program at Arizona heart. While in school, they were scanning each other’s hearts and noticed that Craig’s aorta was slightly dilated, but not enough to be a concern given his height.

Craig still talked with a cardiologist who told him not to worry but that they’d monitor him every couple of years.

After graduating and working for a while, Craig one day brought a machine home and was scanning our kids’ hearts for fun and he scanned his own right in front of us. I saw his face change to very serious and then a nervous smile. He said should probably make an appointment. His aorta had grown about 1.8 cm in a little less than a year. We felt very strongly that something was wrong and that we needed to have genetic testing done. We both immediately thought he had Marfan syndrome. 

We made appointments with his cardiologist who never actually showed up and his nurse saw Craig. She’d never heard of Marfan but said that we could make another appointment to follow up because it’s not normal for people Craig’s age and in his health to have aneurysms.

We saw another cardiologist who agreed that we should look into Marfan but didn’t want to do genetic testing because Craig had so few of the characteristics and said that if Craig’s ophthalmology appointment went well that he could safely rule out Marfan. The ophthalmology exam was perfect but again the strong prompting came to get genetic testing done.

Since no doctors seemed willing to do it, we had it done out of pocket.

When Craig’s results came back negative for Marfan but positive for Loeys-Dietz syndrome we were so confused. We hadn’t heard anything about it, but after doing some research and talking to some of the best specialists in the states for this rare disease, we’ve come to know that it’s often referred to as Marfan’s evil cousin. Both are connective tissue diseases that cause weak tissue and aneurysms and dissections in the cardiovascular system. But Loeys-Dietz causes aneurysms and dissections throughout the body, not just the heart.

We talked with other Marfan and Loeys-Dietz patients who told us to call Dr. Dietz at Johns Hopkins. After some consultations with Dr. Dietz, he told us that Craig needed to get in immediately at Stanford to have surgery. We were shocked. We knew that Craig’s aorta had an aneurysm but none of the other doctors had seemed too concerned. Dr. Dietz explained that with Loeys-Dietz the threshold for surgery is much smaller. They operate on aneurysms at 4 cm because the risk of dissection or ruptures greatly increases after 4 cm. Craig at this point was measuring 5.1 cm.

After months of fighting insurance, we finally were able to switch plans to Craig’s new work plan and be seen at Mayo Phoenix by Craig’s new specialist. On the first appointment, they told us what we already knew - surgery at Stanford, immediately. He also told us that based on Craig’s most recent CT scan, the aneurysm had grown in those couple of months to 5.3cm.

We got our appointments scheduled with Stanford and had a few very terrifying 911 calls with ambulance rides to the hospital, but luckily Craig’s aneurysm hung in there until we could get him to California and into surgery at Stanford.

I will never forget dropping Craig off that morning for surgery - relief that he was going in and overwhelming fear and a longing to be there with him to hold his hand. Checking my phone every minute to make sure I didn’t miss any calls or text updates. 

After 13 hours the surgeon called to tell me Craig’s surgery was done and that everything went well. One of the first things he told me was that it was a miracle that Craig made it there on time. He said that when Craig was on bypass and they were about to start removing the aneurysm that as soon as he touched it, it fell apart in his hand. I find myself thinking about that every day and looking at my miracle of a husband and thanking our Father in Heaven for directing Craig every step of the way and prompting us so strongly. 

Had Craig gone to medical school, or had we followed the advice of the other cardiologists and just monitored it, we would be looking at a very different life right now. I’m so grateful for these subtle and sometimes not-so-subtle promptings that can literally save a life. We still have more hurdles coming up but I am grateful that we are aware of these hurdles and know what’s coming, instead of the grim and extra scary alternative.

Craig and I can’t help but wonder how many people and how many children get sent on their way being monitored and end up dying or in emergency surgery to fix or repair a dissection because a doctor wasn’t aware of Marfan or Loeys-Dietz. One of the most frustrating things about this whole experience has been having countless doctors look directly at us and tell us they’ve never heard of it and then immediately dismiss it. 

If there is one thing I could do to bring awareness of Loeys-Dietz, and Marfan for that matter, I wish that I could get cardiologists and PCPs to take an extra 5-10 minutes when they have a patient like Craig with an aortic root aneurysm. Take a minute to ask about a family history of aneurysms or dissections. Take a couple of minutes to look at their arms, fingers, and toes, their jawline, check for scoliosis, and ask about their vision, flexibility, or if they’re double-jointed. I wish that more doctors would research these diseases and know that even if the patient doesn’t have all the markers for it, they could still have one of them.

Please visit the Resources section of our website to download fact sheets and other materials that can assist your medical team in diagnosing Loeys-Dietz syndrome. https://www.loeysdietz.org/resources