Hiking/climbing high with Marfan Syndrome…………🙁

[HokieTom]

Before I start on the main topic, here’s the back story.

I began this awesome 14,000’ experience in the fall of 2020 by completing Elbert and Bierstadt at the age of 62. Since that time, I have added 26 more Colorado peaks and 2 California peaks which were completed last June (Whitney and White Mountain Peak). My daily work out routines of weight lifting, zone 2 cardio training, or road hiking in Virginia enabled me to schedule these trips twice a year.

After my 2 peaks last September (Crestone and Blanca Peak), a frightening medical emergency occurred in my family. My 37 year old niece had to be medflighted from Virginia Beach, Virginia to Richmond, Virginia for emergency aorta surgery. Her surgery was a success, but they needed to know why this happened. Although she is over weight and fairly inactive, she had no previous warning signs of this life threatening condition. After genetic testing, she tested positive for the FBN1 variant, which is associated with Marfan Syndrome (MS). MS is a connective tissue issue with serious, life threatening complications with potential aortic aneurysms and dissection. My sister was also positive with this gene and I received my positive result of the same gene a few weeks ago.

I received information about my new normal and my life going forward. I continue my cardio and weight lifting with lower intensities, and I have an appointment with a cardiologist in a few weeks. Although my days going 14K may be nearing an end, I am not ruling it out at the present time. My appointment will probably change this.

Does anyone here have this syndrome and can give me some hopeful advice?

[Gore Girl]

Hi HokieTom - a quick note here to ask if you've been diagnosed with an aortic aneurysm - it's an easy ultrasound test, and if one is not found, that would be a great first result. I am keeping my fingers crossed for you on this one!

Another thing to keep in mind is that having the gene for the condition is fortunately not the same as having the condition itself. Genetics clues us in to the tendency of developing a certain condition - but in most cases, our lifestyle habits are what tip the scales to one actually getting the condition if we are genetically predisposed towards it. Marfan Syndrome is often discovered earlier in life - the fact that you're in your mid 60s and have been active would seem to lean in your favor at not having developed it yet. Wishing you the very best on this whole matter.

[HokieTom]

Thanks Lisa! I am hoping I will get a work up on the heart at my appointment in a few weeks.

Thanks for your kind and hopeful words!

[Gore Girl]

Yep, Tom - I wanted to make the gene comment public - because there will be others who happen to read this, coincidentally after finding out they have a gene for this or that - and worry that such a thing, in itself, is conclusive. All of us have gene mutations for things we don't ultimately get (whew!). Often, it may take the intersection of one gene mutation plus another one....or one gene mutation plus a lot of bad lifestyle choices - to end up with a particular disease.

[zootloopz]

No expertise with Marfan's, but if you've made it this far in life and summited as many peaks as you have recently without issue, perhaps you have little to worry about and your gene variant won't ever express itself. At least that's what I'd tell myself anyway. I would just be sure to get regular check ups and carry a satcom with you at all times in the backcountry.

In my EMT-B course we also learned that a triple A (abdominal aortic aneurysm) is often described as a deep throbbing front to back ripping sensation. Before it ruptures it can often just manifest as back pain so I'd also just keep an eye on that, and know what you're typical aches and pains feel like versus the potential of a AAA developing.