Most people have never heard of Marfan Syndrome. I know I hadn’t until I was diagnosed with it at age 31, explaining a lifetime of injuries and health problems. I may be a bit biased, as someone whose life has been ruined by the disorder, but I find it somewhat fascinating in how it affects so many parts of ones body. This blog isn’t meant to be a comprehensive look at Marfan Syndrome, as I still have so much to learn myself when it comes to the science behind it, it’s really just a summary of ways that the disorder has effected me. I will be including a lot of basic information though, all taken from this website www.marfan.org.
I’ve seen estimates that as few as 1 in 20,000 people and as many as 1 in 5,000 people have Marfan Syndrome, so I assume the truth is somewhere in the middle. The gist of it is, “Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. The lungs, skin and nervous system may also be affected.”
Thanks to modern medicine, especially advancements in cardiac surgery and the availability of the echocardiogram, the life-expectancy of someone with Marfan Syndrome has gone from being 20-30 years to being “similar” to that of someone without the disorder…frankly I’d really like to know how similar. As long as you get the proper check-ups it shouldn’t affect QUANTITY of life much, but it does have a significant effect on QUALITY of life. Among tons of other little things, it causes all kinds of chronic pain, makes one very injury prone, and causes exhaustion.
People with Marfan Syndrome are encouraged to avoid any strenuous physical activity as not to add stress to our at-risk heart and lungs, we also aren’t suppose to play any contact sports, actually most sports are discouraged because of the risk to our faulty joints. Now all of this would have been really good information for me to have before I picked one of the most physically demanding professions possible and joined the Marine Corps. Had it been possible to know that I had this disorder when I was 18 I would have never been allowed to join, but not only did I get in, I managed to do it for 10 injury filled years before finally being medically retired. I was never in great shape for a Marine, usually near the end of the pack on our standard 3-mile runs. Also, it seemed like I was almost always injured. I was told I needed more calcium, more vitamin D, everyone joked about how clumsy and unlucky I was. I hated running, I hated hiking in those shitty boots with no arch support and usually carrying at least half my body weight, I hated lifting, I hated it all because it hurt. I was always in pain during work outs, but assumed I was just weak, everyone was probably in pain, right?
Some issues affecting the skeletal system include:
- Curvature of the spine
- Ligaments (tissue that holds joints together) become stretchy – like loose rubber bands.
- Flexible joints (hypermobility)
- Your knees, hips, shoulders, or other joints may slip out of place (dislocate).
- You may get arthritis as early as your 20’s or 30’s. Unstable joints can cause this.
- Flat feet – You may have a very low foot arch or very high foot arch.
In 2004, not long after I completed basic training, I sprained my ankle. I know that a sprain doesn’t usually sound serious, the truth is I destroyed my ankle. Some dumb ass insisted that I take my boot off before going to the hospital, as soon as it was off my ankle and foot swelled so much so quickly that I looked like a scene from The Nutty Professor when the skinny potion wears off and his body parts start becoming fat again. When I got to the hospital the Dr. said it was the worst sprain he had ever seen and he was amazed that there were no torn ligaments. Which makes perfect sense now.
In 2008 I injured my back, this was the injury that would eventually end my career. I wasn’t doing anything exciting, just hopping down about a foot carrying all my gear. However, despite complaining to several different medical professionals over the next four years, I was never given an MRI and therefor never properly diagnosed. I just kept running, and lifting, and grappling, and hiking through the pain. In 2012 I was taking a Combat Fitness Test, part of which includes firemen’s carrying someone close to your own weight. After the test one of my legs was tingling, this new symptom is what finally got me an MRI. The neurosurgeon said that my L5/S1 disk had probably ruptured years ago, as it was now rotted into my nerve roots. Yes, that is about as fun as it sounds. At 27 years old I had to have a spinal fusion. Still, everyone just thought I was the most fragile, clumsy, unlucky person alive.
I have collapsed high arches or flexible flat foot, meaning when I’m sitting I have high arches in my feet, but when I stand my arches completely collapse. This causes a bit of a domino effect on the rest of my body. My knees are collapsed inward, I have one kind of bad hip and one really bad hip, my back hurts all the time, the problems with my spine cause most of the muscles in my back and neck to be in constant spasm. I have a bad shoulder. One hip, one wrist, and several toes that dislocate all the time.
Issues affecting the lungs:
- Sudden lung collapse
In February 2016 I was on vacation in Thailand. After scuba diving I was having trouble breathing and the left side of my chest hurt a lot. Unfortunately I was on an island where no one was equipped to figure out exactly what was wrong, much less treat me so I had to charter a speed boat to take me to a city on the mainland. Turns out I suffered a Spontaneous Pneumothorax, my lung had collapsed and not just a little collapsed, it completely collapsed. I apparently had Pulmonary Blebs (yes, “BLEB” is a word), weak spots on my lung, one ruptured and there went my lung. Like having a spinal fusion at 27, this was a REALLY weird thing to happen to someone who was my age, especially since I’ve never smoked anything in my life. Once I got home I was diagnosed with Asthma and Hyper-inflated Lungs, the Doctor said that he can tell by looking at my lungs that I had had Asthma for at least 10 years…at least I know why I was never a strong runner.
“Harder-to-detect signs of Marfan syndrome include heart problems, especially those related to the aorta.”
Issues affecting Heart and blood vessels (cardiovascular system)
- Enlarged or bulging aorta
- Mitral Valve prolapse-”floppy” or leaking heart valve.
I do have mild Mitral Valve Prolapse, it doesn’t cause much of an issue yet, but I’ll almost certainly need a valve replacement eventually. The disorder also causes me Persistent Tachycardia, meaning my heart is almost always beating much faster than it should be, this sucks because it causes my at-risk heart to do a lot more work than it should need to.
Issues affecting the Eyes:
- Severe nearsightedness(myopia)
- Dislocated lens of the eye
- Detached retina
- Early glaucoma/Early cataracts
You would think the life-threatening hearts stuff would be the scariest thing about having this disorder, but it’s definitely the eye stuff. My eye-sight gets a little worse every year, which isn’t a huge deal these days, but you know what I really really don’t want? For the lens of my eye to fucking detach! It’s not looking good for me though, 60% of people with Marfan Syndrome will suffer detached lens. That makes it much likely than it was for me to have a Pneumothorax. Not looking forward to that.
It’s odd to look back now knowing that I owe my entire career to lazy and uniformed medical personnel. Finding out earlier in life, before I put myself through so much physically demanding nonsense, would have saved me so much pain, I might feel 40 instead of 70. That being said, even with all the pain I’m in and after the injuries and surgeries, I’m grateful for the time I had in the Marine Corps and I wouldn’t trade it. I’d given up hope of ever being pain free after my back surgery, I knew it wasn’t a feasible goal, but finally knowing there is a reason for it all gives me some peace of mind and to be honest, a bit of vindication. I was never weak or lazy, just the opposite, I did things I should have never been able to do, I overcame so damn much through pure will-power. At least I have that knowledge.
3 thoughts on “My Marfan Syndrome”
A true Hero that I have the honour to call a friend. That’s for sharing as always! You my friend are a Beast an not lazy! You cans do anything you set your mind to. 💖
Thank you for sharing your story. I have been following you through the Wynonna Earp fandom and wondered what was causing you such pain. You are a sweet and brave soul who is loved by many in the Earper community. I pray that you have better days ahead now that you have a diagnosis. E4L
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Linda, thank you so much for taking the time to read this and for your kind words. This fandom means to world to me.