I shook the officer’s hand, and he let me go with a warning.
Almost 20 years ago, I was driving through the beautiful state of Idaho. I was working there temporarily and exploring the parks and cities within several hours by car. I spent many weekends at Yellowstone National Park and Grand Teton National Park. I saw the famous Old Faithful geyser explode its boiling contents into the air. I hiked through mountain trails in June, crossing small streams, and eventually meeting what seemed impossible to someone from Florida—snow on the ground in summer! I walked through downtown Jackson Hole going in and out of art galleries filled with images of cowboys and ranchers. I went on many weekend trips.
On this particular trip, I was headed to an area that promised hot springs. I got on the highway, which looks nothing like the freeways of the dense city that I grew up in. These are often empty roads. I still remember the first time that I had to make a left onto a “highway.” It took me 10 minutes at the stop sign to reboot my brain so that I could take in this fact. There is no rush hour here. As I drove down the small rural highway surrounded by green fields, I suddenly passed through a group of buildings. That’s when the police lights turned on and followed me. I pulled off to the side wondering what happened as the police car pulled up behind me.
“Do you know how fast you were going?” asked the officer. He was pale, sunglasses, crisp uniform. He asked for my license and registration.
“Why is the car registered to the hospital?” he asked with a surprised look.
I explained that I’m working as a temporary doctor at the clinic and hospital in Rexburg, Idaho.
“Oh,” he said and then paused for a moment, “do you know what Fabry disease is?”
It was an odd question, out of context, but he had suddenly activated my doctor-brain. I flipped to the page in my memory for what I knew from medical school. “Fabry disease is a rare genetic disorder that causes fat deposits in the tissues.” The rest of the details were vague in my memory, so I stopped there.
“I have Fabry disease,” he said, “the doctors are watching my kidneys.”
My jaw dropped, I was stunned. I thought Fabry disease was a severe childhood disease with low chance of survival, but this man was in his late twenties or early thirties. The officer looked young, healthy, and strong. Trying to understand this paradox felt like those 10-minutes trying to understand that you can make a left turn onto a highway in rural Idaho, but of course it was only perhaps twenty seconds.
“I’ve never met someone with Fabry disease,” I stammered, “Can I shake your hand?”
A strange request, I realized it even then, but it was all I could think to do on meeting a medical miracle.
Apparently, his question was his way of verifying that I was a doctor. He gave me a warning against speeding and let me go.
Medicine is lifelong learning. Just as I would after meeting a patient, I got home and looked up details of Fabry disease.
Fabry Disease
There are two types: the classic type and the late-onset/atypical type. This explained my confusion. The officer had the late-onset/atypical type. The fatty deposits in blood vessels and tissues can affect many organs, but not usually until after 30 years old. One serious complication is kidney failure. This explains his comment that the doctors are monitoring his kidneys.
The gene defect for Fabry disease is on the X-chromosome.
Crash Course in Genetics (if this does not interest you, skip to the next section)
Here’s a crash course in genetics. We have 23 pairs of chromosomes of DNA that encode our genes. One of the pairs of chromosomes is the sex chromosomes (commonly called X and Y). Women have two X chromosomes. Men have an X and a Y chromosome. We inherit one set of chromosomes from each parent. While biological females get one X-chromosome from each parent, biological males get the X-chromosome from their mother and a Y-chromosome from their father. Other less-serious X-linked traits include color blindness and baldness.
With serious genetic disorders like Fabry disease, genetic counseling is important for the parents of the affected child and for the child if they are ready to be parents. The geneticist explains the risk of passing on the disorder to their children. Different genetic disorders have different risks.
The officer got his defective X-chromosome from his mother. (No blame here, just a fact. She is a “carrier” for this disease, and she probably had no symptoms.) The rest of his siblings would have gotten genetic testing. In some states, all newborns are screened for this disease.
If the officer chooses to have children, he could pass on the defective X-chromosome to his daughters who might have no disease or be mildly affected. His sons would not have the disease because he would pass his Y-chromosome to them, not the defective X.
Curiosity
My curiosity about this officer took me down the rabbit hole. I read more about symptoms, diagnosis, and treatment of this rare, fascinating, sad and often fatal disease.
I learned a lot that day. I also learned something practical: Be careful of speed traps on rural highways! In this rural part of the country, a “town” is a few buildings along the road…. Slow down… Be curious… Watch for the signs… You might just learn something.
