Marfan Syndrome

Are there any climbers out there with Marfan Syndrome? I was recently diagnosed and it would appear my climbing days are over just like that.

It started with a series of dislocations with no visible tearing of my labrum showing during MRI’s. Some test later and I was diagnosed. As if the the dislocations weren’t bad enough, my doctor said climbing and other high intensity sports are simply out of reach for me now. I was climbing at a pretty moderate level (5.13) before this, but now I just don’t know what to do. My doctor said surgery would tighten my shoulders and help with the dislocations, but as far as everything else with Marfan I’m SOL. Just looking for some guidance or advice, and yes I know no one on here can give me anything that’ll beat what a doctor says, it’s just nice to hear maybe there’s a chance something I built my life around can still be here. I love climbing. Truly. I know I can probably still climb low intensity, but I love pushing harder and harder. Anything helps

Hey Shay, I'm not very knowledgeable about Marfan Syndrome, but I did a quick google search and found this woman who says that she has returned to skiing and rock climbing. I'm not sure how, but you may be able to contact her and ask her about it.

Here's my perspective on it. Marfan is a genetic condition. You had it the whole time you got to crushing 5.13 (which is not moderate for anyone except maybe Chris Sharma). I blew out my right shoulder my first year of climbing. I know I can't do certain moves now. Pushing it on boulders isn't an option for me anymore, but I know I can climb cracks all day. If you love climbing, find a way to keep doing it and a find a doctor that is willing to support you in doing that. There's a guy with cystic fibrosis that climbs 5.12. Take care of your health as best you can, but never completely give up something you love just because a doctor told you it would be safer if you did (unless maybe you are a severe diabetic that loves cake). 

In 1970,  on my last day in Vietnam, after 23 months over there, I came close to losing my right leg, at the ankle. I still have hundreds of pieces of shrapnel in that area. The docs told me I would never be able to run etc.  Years later,  at 52 years old, I ran a 5 minute mile,.   I tend to not always listen to doctors, and I suspect if your climbing at the level of 5.13, you will still continue to push it. 

I think it's worth noting that while doctors are very knowledgeable, there is a culture in US medicine to follow guidelines and not really think outside the box due to fear of lawsuits. 

I'm 6'4" with a +5 ape index. Definitely Marfanoid, but with just a subset of the typical diagnostic symptoms.

I have pulled loose a rib during a dynamic move. My shoulders pop in and out of socket by ~1/2" with ease, but that causes no damage in my case. All my joints are that loose. Also have wing scapulae. Finger injuries are another matter- definitely a limitation for hard crimping. Two blown C2 pullies and a partially torn annular. 

Having bad connective tissue means it is easier to tear stuff. OTOH - YOLO, tho. Climb on.

edit to add: 

Getting checked for early warning signs of aortic dissection every ~5 years is a prudent move, (else your 'YOLO phase' may be truncated) 

Shay, I am really sorry to hear about your diagnosis.  I'm have a molecular biology background, not an MD.   Because this is a genetic disease, you don't have the ability to "overcome" the physiological consequences through any kind of will power or training.  

 "my doctor said climbing and other high intensity sports are simply out of reach for me now."

The concern with high intensity activity is probably much more related to the cardiovascular issues and potential for fatal events there, and the potential ocular issues, than it is with mechanical/joint issues.  Yes, your athletic life is going to change with this diagnosis, but you probably need a lot more medical information than you have now, to know exactly what you will and won't be able to do.

"My doctor said surgery would tighten my shoulders and help with the dislocations, but as far as everything else with Marfan I’m SOL."

I did a quick search on some literature and found a review on current treatment that discusses good success in terms of health with prophylactic cardio surgery and with treatment with beta blockers, so I don't think you are SOL.  As Gregger says above, ongoing monitoring will be important.  Perhaps because of the joint issues you are currently seeing an orthopedic surgeon?  It's always good to get second opinions and even third opinions with a diagnosis as life changing as this.  My strategy is usually to do some research and to find the best specialists I can find. If you haven't already, you will want to consult a cardiologist who specializes in Marfan's.   Lots of docs are doing internet appointments these days, you may be able to see the best person in the country, even if they are physically nowhere near where you live.  Read as much scientific literature as you can absorb to educate yourself.  

Good luck with everything. Phyl

In the past, a couple orthopedists mused that I might have Marfan's. I really don't think I was ever tall and skinny enough, but I did all the measurements and checked for all the physical anomalies and nothing met the requirements. Anyway, the reality is that I likely have Ehlers Danlos hypermobility type, and therefore all the acute and chronic injuries which go along with it. So in some ways my problems really aren't too different from Marfan's except I'm unlikely to have to worry about catastrophic events with my heart or eyes. 

If you've climbed 5.13 I really can't see how your connective tissue is hampering you in any way yet, although that doesn't mean it won't at some point. Mine definitely hampers me pretty much all the time (currently dealing with three long term foot injuries and recovering from one acute wrist injury which are all making it really hard to climb, hike, or do lots of shit). It's definitely negated my ability to do any real training or any real hard climbing for just about ever. But I'm me, and you're you. Some people can sublux and dislocate with no real damage (like you). I seem to get damage even without subluxations. It just happens, even when I'm doing "normal for me" stuff. As I get older, the condition feels progressive, even though it's actually not. It's just an extra layer of shit I must grapple with on top of the normal effects of aging on soft tissues.  

You can definitely keep climbing and you should, but you must become attuned to your body and its signals. Years ago, I had to learn to draw the line to the best of my ability of what I should and should not try. The way I saw it, I have two choices: modify my climbing to suit my body's limitations or have my climbing life ended involuntarily at some point. If you really want to keep climbing, start tuning in to your body at a high level, strengthen your vulnerable joints with specialized weight training, and then just keep doing your best as the years go on.

If you are to continue climbing I would considering belaying others to be a potential risk. If you have a catastrophic event while belaying your climber is at risk too. 

I wish you luck in learning more and making these decisions. 

^Katie G: unless you are an expert on Marfans, I think the perspective you offered is unfounded. If you are cleared to drive, you can probably belay. Katie, don’t offer medical assessment based on assumptions. 

I have a long time friend (from the 70's) who is a Marfan, we had many adventures together (climbing, skiing, sailing etc.) his first encounter with the genetic anomaly was in the late 70's when he had an aortic aneurism that did not rupture thus he is still alive. He has had 3 or 4 open heart surgeries over the years, he is still chugging along with a less adventure filled life but pretty dammed good by any standard. He belongs to Marfan.org I suggest you go there for accurate information on your condition. Good luck Live long and prosper.

Hi, Shay. I’m so sorry to hear you’re going through this. Although the recommendation I’m going to give isn’t climbing-specific, I hope you do find it useful in some way. There is a social psychologist and grounded theorist named Kathy Charmaz whose research is built on the impact that a new physical impairment has on one’s identity when physical things (like climbing) make up such a big part of one’s lifestyle and self-concept. I don’t know whether or not she has any books on the topic, but she definitely has a sizable body of research (mostly based in case studies) on this in the form of articles in scholarly journals; you can usually access these journals using your local library system’s credentials, or even alumni credentials through your alma mater. This of course won’t help you get actually climbing again, but it may be beneficial in understanding the myriad emotions associated with going through something like this.

Shay, what a bummer to get such a diagnosis. I don't have Marfan Syndrome but I do have a related condition that has completely changed everything in my life. I did go the The Center for Marfan Syndrome and Related Aortic Disorders at Stanford where I consulted with a very good cardiologist and a geneticist. From what I know, you need to be very careful since one possible outcome is instant death.

Here's my story. In April 2014 I got a call from my niece who was in a panic because she had just found my brother dead at home and she was alone since her mother was at a conference in Florida and her bother lived several hours away. My wife, daughter and I sped up to Sausalito from Palo Alto to be with her. My brother had died on the toilet and was dead so fast that he didn't have time to get his pants up. He was downstairs in his hillside house so the coroner's gurney wouldn't fit in the stairwell and I had to help carry him up. They did an autopsy (Required in California if a person dies alone) and found that he had ruptured an aortic aneurysm near his heart. The rupture bled into the pericardium (sack the heart sits in) filling it up and compressing his heart. He probably got one or two heartbeats and died.

An ER doctor I know later told me that aortic aneurysms are often a genetic condition and that I should get an echo cardiogram to have mine checked out. I said I would and put it off. January 2017 my aortic aneurysm perforated in the exact same spot that my brother's did. Mine didn't go towards the heart but went the other way and dissected my entire aorta. This is something that a person isn't supposed to survive. I rode the ambulance to the closest hospital when the ER doctor was good enough to diagnose what had happened and, after explaining that there was a very good chance that I wouldn't make it, helicoptered me off to a hospital that could do emergency surgery. After the surgeon explained that I might not survive the surgery, I spent about 6 hours on the cutting board where they stopped my heart and breathing so they could remove and replace my ascending aorta. There is nothing they can do about the remaining dissected aorta. The dissection extends up into the carotid arteries and down into the iliac split. Basically, my aorta is about twice the diameter it should be, damaged and is very fragile. If I suffer another failure and survive a second surgery, they say I would likely be paraplegic due to damage to the arteries that supply the spine with blood.

For the rest of my life, I absolutely must keep my blood pressure as low as possible and get CT scans every couple of years to check my aorta. I take every kind of blood pressure medication known to man and have changed all of my work and recreation habits. I have been instructed to never exert myself and not to exercise hard. They say that means never working so hard that you can't carry on a normal conversation and not to use weights heavier than 50 pounds.

They did genetic testing but didn't identify any known genetic markers. They do believe that it is definitely genetic. Looking back at my family history, I have identified my maternal grandfather, one uncle and two cousins that probably had the same thing but no autopsy. They are all dead so we will never know for sure. They say that researchers have identified about 25 markers and are finding new markers all the time. I wish my brother was alive since if they could look at both of us, it might help identify a maker that we could check my kids for. I hope my kids are smarter that I am.

https://en.wikipedia.org/wiki/Aortic_dissection

https://stanfordhealthcare.org/medical-clinics/center-marfan-syndrome-related-aortic-disorders.html

Yea, Marfan's is not something that is overcome with "willpower" or a "good work ethic".  It is a genetic defect that causes weak connective tissue and most individuals die from aortic dissection (as above) as normally high blood pressure during high intensity exercise will fatally damage the aorta.

There are a million things to do with your life that do not involve high intensity exercise ie the sciences, the arts, literature etc etc. Take it as a blessing that you now know how to extend your life.

5.13 isn't moderate bruh

Keep crushing 

Hello all - I am not a climber but as I'm replying to this thread, 3 years after it was posted. I am on a family vacation in Hawaii on the big island of Hawaii. I was supposed to go with my husband and daughter-in-law to the summit of Mauna Kea today which which I found out is a height of 13000 feet. I'm actually sitting here on my bed crying as I'm looking for information on high altitudes and Marfan Syndrome and found this topic. I read through the topic and found a lot of POTENTIALLY alarming advice here! 

 Some of the people on this thread have experience in biology and scientific studies, while others have personal experience with connective tissue disorders. One of the things that is most alarming is how many of you climbers are just telling Shay to #YOLO and go on climbing anyway. This is terribly wrong advice if you don't know what you're talking about and I do know what I'm talking about because I am a Marfan patient!  I was once very active although not particularly sporty-I did a lot of skiing and running,  exercising and hiking.  And now I'm laying on my bed crying because I can't go to the summit to watch the sunset and then have dinner at the visitor center at 9000 feet to watch the stars. This is all something I would have loved to have done before I had a Marfan diagosis. But I had a very unexpected dissection in September 2019 and my life has changed dramatically. And I never thought I would be in this situation EVER.  Shay, this is for you particularly- Yes, go get a second opinion from a doctor but first go to a cardiologist who has extensive resources and experience with Marfan Syndrome and listen to THEM. The way my life has changed dramatically with regard to my physical activity is sometimes heartbreaking for me! Sometimes I don't want to live with all the limitations I now have but there are many many many more things that you can do instead. Find out from your cardiologist FIRST if you should be climbing anymore - not from people on this thread! The biggest thing about Marfan is not the connective tissue disorders and the laxicity in muscles and tendons, but huge potential for  An aortic aneurysm or dissection perif you truly have more fans syndrome you will need to be checked every year with a cat scan to make sure your aorta has not deleted and this is a potential when you are doing high intensity activity. 

 I absolutely hate that I cannot go on that mountain today to do all the things I've been waiting to do for 6 months! It sickens me how much I have to change my life now. but I have someone who loves me and children and grandchildren and maybe I can't go and see the view from a 13000 foot mountain but I can go on the beach and enjoy the surf and white sands. You may have to come to those realizations yourself oneday and decide if living a different way is better than dying. 

Shay, I wish you my best.

Daniel Chode Riderwrote:

5.13 isn't moderate bruh

Keep crushing 

Not with Marfan! Keep crushing will more than likely cause a dissection = the risk 100% inherent in Marfan Syndrome! Bad advice, unless you know what you're talking about, "bruh"!!

Thank you for your real perspective, Terri.

In any public forum there will be a share of "bruhs" commenting on something they know nothing about and Marfan's is a deadly serious medical condition and they should have the humility to accept they have little to offer in a discussion.

We wish you the very best as you manage this challenge in your life.

Update regarding my above post. After having my ascending aorta replace in 2017 they continued to monitor the rest of my dissected aorta as it continued to enlarge. By 2022 they were recommending a second surgery - the local surgeon claimed extreme urgency and wanted to do the repair NOW. I went Stanford where the surgeon said surgery was inevitable and should be SOON. I continued exercising and even rock climbing a little bit. I didn't tell the doctors but in August 2022 I went to Peru with my daughter and did two treks, The Salkantay Trek to Machu Picchu and the Santa Cruz Trek getting up to 4750 m. This was likely harder than I should have hiked but it was awesome. I told my daughter what to do if I dropped dead.

I had scheduled surgery to replace my aortic arch in September 2023 at Stanford. The surgery took about 8 hours and I spent a week in ICU followed by more than a week in the cardiac unit. The recovery sucked, I couldn't eat and lost 30 pounds.

I'm feeling pretty good these days and ride my bike a lot, I love long climbs on the bike, and even went rocking yesterday. I plan to do Snake Dike this year.

I'm weak, I lack endurance, I suck at climbing. I never lead anymore but I'm still here and plugging along. I'll turn 70 this fall so I have no complaints. Life is good!

Peru:

View from the crag yesterday:

So glad to hear it Dan! You've made it to 70 which is far more than many can say!

<3

Dan Merrickwrote:

Update regarding my above post.

It's great to hear such a positive update. Thanks. If you ever want a partner down in SoCal on some future trip, send me a note - I'd be happy to rope up with you.