An Answer or a Question?

A routine task at work leads to the possible solving of a personal mystery.

[TW for heart surgery and parental death]

A few months ago, I started a new job: instructional design. I get to create online courses for a small, local career college. It’s basically my dream job. Brief overview of the job: I start with the syllabus set by the department and work with a Subject Matter Expert (SME) to design assignments, discussion questions, projects, quizzes, and exams. Once the course is designed, another faculty member goes through to make sure the curriculum is rigorous enough, flows well, etc.

Currently, I’m revising an anatomy and physiology  course. I’ve been spending the last few days reading about hearts and blood and spleens. Several of the original discussion questions were just variations on the same theme, so I’ve been focusing on bringing in more variety.

A common tactic is to use a TED Talk. Besides simply being engaging, the videos on the Ted website have subtitles as well as a transcripts in a variety of languages. Very accessible. This particular course focuses on the cardiovascular and lymphatic systems, so I was delighted to find Tal Golesworthy’s talk “How I Repaired My Own Heart.” Golesworthy is an engineer, and he worked with his doctor to find a better way to fix a problem with his aorta. Perfect, this could be used for a discussion about the heart; specifically, the video could be used to teach the importance of teamwork and innovation in healthcare. I did a little happy dance in my desk chair.

Reading through the transcript, this line caught my eye:

My ascending aorta was not in the normal range, the green line at the bottom. Everyone in here will be between 3.2 and 3.6 cm. I was already up at 4.4. And as you can see, my aorta dilated progressively,and I got closer and closer to the point where surgery was going to be necessary.

This sounded very much like the issue that had initially led to my dad’s heart surgery. He’d had an aortic aneurysm (among other things), and it was too large for a stent, so he had to have surgery. I believe the size was about 4.5 or 5 centimeters. I continued reading the transcript with heightened interest.

Golesworthy goes on to mention a special complication for him resulting from Marfan Syndrome. I’d heard of this syndrome before, usually in a historical context. People who have the syndrome tend to be very tall and have long, skinny fingers and toes. Some scholars suggest that Pharaoh Akhenaten had Marfan, which is why artistic depictions of him look so different from those of other pharaohs.

Because Akhenaten was all the context I had for Marfan, I decided to do some more reading. Marfan Syndrome is more than just being tall; it’s a disease that effects connective tissue and so can impact the eyes, joints, muscles, and skin. And many of the signs matched up with my dad.

Now, I’m not a doctor. And there’s danger in diagnosing one’s self with a list from the Internet, let alone diagnosing someone who is dead. It’s easy enough to just read whatever you want to in a list of signs and symptoms.

Daddy wasn’t particularly tall, at only 5’9″, but he did have long, skinny fingers and toes. He had vision problems and back problems. His shortness of breath led him to a cardiologist in the first place, and was never explained. And of course, he has an aortic aneurysm.

His father, my paternal grandfather, officially died of a heart attack. My father’s cardiologist suggested Grandpa may have actually had an aortic aneurysm, too. Marfan is genetic, and dominant, so maybe he actually had that and passed it on.

Likewise, I am not particularly tall (5’8″), but I do have long, skinny fingers and toes. I have vision problems, teeth crowding, back pain, GERD, and sleep apnea.

Of course, these symptoms are common enough that it could either be coincidence or could be some other disease.

Yet, learning about Marfan Syndrome, or the other possible diagnoses, is comforting. I can do research, I can have genetic testing done. That my father died at age 58 of an aortic aneurysm is terrifying. He’d had heart problems; heart disease, heart attacks, and hypertension run in the family. But the aneurysm was out of the blue, and despite regular checkups with a cardiologist, no one caught it until it was so big that surgery was needed.

I get regular checkups, and my heart is just fine. For the moment. When will it turn on me? When will the genetic switch get flipped? Knowing I have this or that syndrome doesn’t help, exactly, but it could lead to a better plan for taking care of my health. That I might literally be at the half-way point of my life scares me in ways I can’t fully describe.

After learning more about Marfan, I sat back in my desk chair, not sure what to do next. I felt strangely elated. I emailed my sister, who also thought the information was interesting. I told my officemate, who immediately urged me to go out and get some genetic testing done. Right now, let’s go, I could use a break anyway, let’s stop at the gas station, too.

And let’s be real, the odds Dad had Marfan, or I have it, are pretty small (1 in 5,000 in fact). If I’m truly afraid that I’m truly middle aged (Ma died at 54), I need to make sure I’m living my best life. Even if I’m only quarter-aged, I should live my best life. We all should.

Not to sound cheesy. It’s easier to worry about death, and about not living “right” than to actually make changes.  And saying, “Oh, it’s Marfan!” is easier than, “Oh, sometimes weird stuff happens, people get sick, and they die.”