Living With Marfans

Jon's Test and Results:

The following tests have been throughout the years with extensive testing done in 2001 - 2022.

  • MRI's (check ascending and descending aorta as well as the head)
  • Echocardiograms (checking heart valves/aorta/blood flow)
  • EKG's
  • Chest X-rays
  • INR - blood thickness/thinness (Coumadin/Warfarin dosage - weekly/monthly
  • Blood Work - blood sugar - kidney- liver- cholesterol - thyroid -sedimentation rate.
  • Pulmonary Test - to check lungs, oxygen rate, etc.
  • Sleep Apnia Test - to check sleep disorder and airway passage.
  • Eye Exams - to test lens movement and condition, retina, glaucoma, etc.
  • Echo 2 -carotid artery-blood flow to neck 
  • CT Scans - check abdominal aorta/arteries (angiogram)
  • Bone Density Scans (check for osteoporosis. osteopenia, etc) Both conditions are far more common and have a much earlier onset than the general population.

* Pulmonary and Sleep Apnia test show - severe sleep apnea and severe upper airway restriction in left nostril/sinus..

* Eye Test - cataracts in both eyes-left eye cataract removed November 2013, right eye removed in Feb 2014.


* MRI on lower back -- dural and tarlov cysts found

* Have been seen by a cardiologist with Marfans experience.

* Have been seen by a rheumatologist with knowledge of Marfans. Diagnosed with Fibromyalgia, Osteoarthritis, Costochondritis, Raynaud Syndrome and More.

* Awarded Social Security Disability in May 2002.

* Upper GI with small bowel follow thru - found bacterial overgrowth in small bowel which was treated with anti-botics and improved gastric symptoms. (temporarily)

- Kidney Stones - one ER event - future possibility due to existence of more stones.
- Tarlov Cysts/Dural E Cysts - large cyst between spine and sacrum 
- Atrial Fibrillation/Atrial Flutter - (see below)



-Since 2012, had severe a-fib, 3 ER visits/stays-including 5 cardio-versions-an ablation in March 2013 to correct a-fib and another in 2014 (on opposite side of heart).  As of the Fall of 2017, I was put on amiodarone which stopped the a-fib but unfortunately elevated my fatigue.  

- Stomach/Digestive problems have been more of a problem in the last 10 years. (2011-2021).  For a little over a 2 years now, I have had a bloated abdomen daily.  Several tests have been run with no answers.  I will be starting an aggresive diet I have come up with to try and find some answers and relief in 2021.

- Cellulitis - two hospital stays in 2006 - no problem since changing to an anti-bacterial soap and wearing white socks. (Sounds crazy butit has worked.) Unfortunately had another attack in July 2019-resolved with anti-biotics.

- Increased pain in bones and joints (More severe as I am aging.) My bones in my hands are actually fusing together. (tested in 2017)

- Diagnosed with Costochondritis in December 2010.


- Increased pain in bones and joints - looking for possible relief/solutions
- Daily head tightness and pain.  Greatly affects my ability to travel.
- Increased dizziness.


*GOALS FOR 2021 and Beyond

1. Work to have Marfan Syndrome listed in its entirety in the Disability Evaluation Under Social Security Guidelines as a "Multi-System Disorder".

2. Improving hospital awareness (around the country and world) about Marfan Syndrome, Loeys-Dietz Syndrome and Ehlers-Danlos Syndrome. (as of 12/20 - 5,200 + hospitals contacted regarding Marfan, LDS and EDS) 

    Help establish, support and promote EDS and Related Disorder Clinics throughout the U.S. and World.

4. Continue raising awareness of Marfans, Loeys-Dietz, Ehlers-Danlos and Related Disorders in the medical community with our Physician Awareness Committee(s) and other initiatives through my EDS and CTD NE/MA  group.