Discussions By Condition: I cannot get a diagnosis.

Take Your Best Shot at It - All Ideas Welcome

Posted In: I cannot get a diagnosis. 3 Replies
  • Posted By: dennisandkristen
  • October 29, 2008
  • 03:06 PM

:confused:The differential includes but is not limited to:

Shortness of breath worsening with exertion/exercise intolerance
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?? Any best guess is appreciated. Also, I'm happy to answer any questions which might facilitate a differential. Thank you very much!

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3 Replies:

  • Have you had a geneticist look at you and your family? I would strongly encourage you to do so! It sounds like a genetic issue as it seems to run in your family, and these can be complex & very hard for other doctors to diagnose. If you happen to live near Boston, Susan Pauker, MD is excellent.She is here: http://www.harvardvanguard.org/locs/loc2.asp?ofc=Kenmore&dpt=Genetics I wish you the best.
    aquila 1263 Replies
    • October 30, 2008
    • 05:53 PM
    • 0
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  • YOU have to rule out a genetic disorder,ask to be seen by a genetian-your chromosomes must be checked
    Anonymous 42789 Replies
    • October 30, 2008
    • 06:27 PM
    • 0
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  • I thought the same as blaze, lyme. Fry laboratories photo smear test and Igenex's western blot will let you know for sure as well as co-infections. It's payment up front, will run around $700 for all but I'd say it's worth knowing. Ins. companies do reimburse these.You can access all the documents and information through their websites, provide them to your doctor and they'll submit it with your blood. If your doctor has a problem with testing you and you can't find one locally try asking the doctor if they'll do it if you sign a release of responsibility from treatment.I've got about 80% of your symptoms and that's how I found out.Best of luck
    J_Rutty 1 Replies
    • October 31, 2008
    • 02:15 AM
    • 0
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