Medical Mystery - Any Clue?

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New Member

Date Joined Oct 2008
Total Posts : 2
   Posted 10/23/2008 1:56 PM (GMT -6)   
The differential includes but is not limited to:
Shortness of breath worsening with exertion
Feet and ankle contortions
Nerve and muscle pain worst in lower extremities and increasing down the legs
General muscle weakness
20 + MRI lesions indicative of TIA strokes
Neurological symptoms of speech, memory, concentration, tingling, numbness
Intermittent debilitating fatigue / general tiredness
Degenerative Disc Disease
Need for Gall Bladder removal - elevated liver enzymes and possible jaundice appearing
Near toxic levels of Vitamin D in the absence of diet or supplement
Latex sensitivity increasing reaction with prolonged exposure
History of:
Anticardiolipin Antibody Syndrome
Allergic reaction to Adenosine Phosphate, seizure
PE, DVT (post operative)
Cervical Fusion
Normal EMG
Normal VEP
Ruled Out almost all standard autoimmune diseases and then some including:
B12 deficiency
Chronic Fatigue
Many others
Family history includes:
Mother who died at 66 with a necrotic stomach, chief admitting complaint - leg pain. Pattern of progression extremely similar. Also exhibited COPD, hypoglycemia
Grandfather deceased now, with early heart attack (40's) stroke (mid 50s to early 60s)
Father with hypothyroidism peripheral artery disease, treating with anticoagulants
Oldest Son with unidentified apparent syndrome. Presentaiton includes; bilateral cleft lip and palate, schizoaffective disorder, boney abnormalities, arthralgias and myalgias, exercise intolerance, type II diabetes, supernumerary thumb
Daughter beginning to exhibit increasing exercise intolerance, gall stones at 10 years of age requiring removal by 12
Youngest son diagnosed with Aarskog's Syndrome and Asperger's. History of reactive airway disease currently treating with maintenance medications and monitoring
Theories include:
Possible genetic connection
Metabolic/Endocrinological condition
Intermittent Anticardiolipid Antibody Syndrome aggravated by infection or inflamation (such as gall bladder) resulting in multiple TIAs, PEs and DVTs
Further tests scheduled include: Spiral Chest CT for PEs, Galium Scan, Venous Doppler
Any ideas at all on where to go with this??

Pamela Neckpain
Veteran Member

Date Joined May 2008
Total Posts : 1821
   Posted 10/23/2008 3:05 PM (GMT -6)   
Denis & Kristen
Sometimes it all seems so confusing. We see stuff and it looks scary. I never
understand it. I think it might be a good idea to take the information to a teaching
hospital. Or just a good doctor in your town.
But maybe first of all I would find out more about those TIA's. That, of course,
is a precursor of a stroke. (You don't want that when it can be prevented.)
Take it one step at a time.
Take this list of medical mysteries to the doctor. See what he has to say. Your
post made me have a much higher opinion of doctors.

Regular Member

Date Joined Feb 2005
Total Posts : 369
   Posted 10/23/2008 5:56 PM (GMT -6)   
Seems to me that you def. have some blood clotting disorders, mabye more than the ACA. Have you had all the clotting testing done?
2003, dx moderate UC
2000, dx selective IGA deficiency w/ anti IGA antibodies
2000, dx Antipholipid Antibody Syndrome
1999-current, chronic hemmoragic ovarian cysts, w/ partial ovary removal
1977, complete reconstruction of foot after lawnmower accident (chronic pain)
6mp 75mg, prednisone 40mg (just starting meds again)
percocet 5mg 3x day
potassium 3x day

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