Living With Marfans

Jon's Test and Results:

The following tests have been throughout the years with extensive testing done in 2001 - 2016.

  • MRI's (check ascending and descending aorta as well as head)
  • Echocardiograms (checking heart valves/aorta/blood flow)
  • EKG's
  • Chest X-rays
  • INR - blood thickness/thinness (Coumadin 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 -carotid artery-blood flow to neck 
  • CT Scans - check abdominal aorta/arteries (angiogram)
  • Bone Density Scans (check for osteoporosis. osteopenia, etc) Both conditions far more common and far more earlier than the general population.

MARFAN RELATED RESULTS:
* Pulmonary and Sleep Apnia test show - mild retrictive lung disease and partial upper airway restriction.

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


JON'S MEDICAL FINDINGS THROUGH December 2015

* 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)

 

HEALTH UPDATES:

- Had Arythmia -2 ER stays in 2007 and early 2008 - improvement seen by increasing atenenol from 100 mg to 125 mg daily. 

-Since 2012, have had severe a-fib, 3 ER visits/stays-including 5 cardio-versions-ablation in March 2013 to correct a-fib and another in 2014 (on opposite side of heart). To date, still have a-fib and a-flutter but at a lessor extent.

- Stomach/Digestive problems have been more of a problem in the last 5 years. (2011-2016).

- Cellulitis - two hospital stays in 2006 - no problem since changing to an anti-bacterial soap and wearing white socks.

- Increased pain in bones and joints (more severe as I am aging)

- Diagnosed with Costochondritis in December 2010.

INVESTIGATING:

- 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 2016 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. (as of 12/15 - 4,800 + hospitals contacted)

3. Promote our MARFAN & RELATED DISORDER  CLINICS at CHILDREN'S HOSPITAL and BRIGHAM & WOMENS HOSPITAL
   

4. Continue raising awareness of Marfans and Related Disorders in the medical community with our Physician Awareness Committee(s).