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Any advice on possible SCA or Friedreichs patient?
by michiganCMA, May 26, 2009 12:44PM
I am seeking anyone who can give me advice on how best to fight and postpone this malicious inherited deficit?
Or possibly any doctors any where east of the missippi river in the US that specialize in such diseases?
I don't know for once in my life i'm completely at a loss for thought or words, its hard to stomache these possibilities after losing my father to primary amyloidosis.
Maybe just some positive words? hahaha
Status:
28 m Weight 205 lbs Meds: 4xd 750 lortab, 2xd Zantac, 3xd 4 mg Zanaflex, One 60 mg Inderal LA
Height 6ft 2 in 2xd 40 mg Folic Acid, 2xd Ditropan.
bp: 125/70 HR: 65
Tests:
CPK: normal Urinanalysis: Normal
Sed Rate: Normal ANA: Negative Albumin: normal Total protein: normal
CBC w/diff: Normal X-ray/MRI: Lumbosacral spine and pelvis: LSTV 2 psuedoarticulations, normal nerve canal, tailbone curvature abnormal. L4/L5 disc circumfrentially buldged/compressed. MRI Brain with w/o contrast: Normal unremarkable anatomy in upper brain, foci present on cerebellum. Abnormal EEG, abnormal Evoked Potentials.
New tests waiting results: CPK, CBC w/diff, Aldolase, pyruvate, lactate, ammonia, ANA, Anti-DNA, Antiphospholipid.
Which all translates to me walking abnormally, unable to drive a car, fluttering eyes, tremors, poor vision, cramps, dyspepsia, dysarthia, fatigue, urinary frequency.
Or possibly any doctors any where east of the missippi river in the US that specialize in such diseases?
I don't know for once in my life i'm completely at a loss for thought or words, its hard to stomache these possibilities after losing my father to primary amyloidosis.
Maybe just some positive words? hahaha
Status:
28 m Weight 205 lbs Meds: 4xd 750 lortab, 2xd Zantac, 3xd 4 mg Zanaflex, One 60 mg Inderal LA
Height 6ft 2 in 2xd 40 mg Folic Acid, 2xd Ditropan.
bp: 125/70 HR: 65
Tests:
CPK: normal Urinanalysis: Normal
Sed Rate: Normal ANA: Negative Albumin: normal Total protein: normal
CBC w/diff: Normal X-ray/MRI: Lumbosacral spine and pelvis: LSTV 2 psuedoarticulations, normal nerve canal, tailbone curvature abnormal. L4/L5 disc circumfrentially buldged/compressed. MRI Brain with w/o contrast: Normal unremarkable anatomy in upper brain, foci present on cerebellum. Abnormal EEG, abnormal Evoked Potentials.
New tests waiting results: CPK, CBC w/diff, Aldolase, pyruvate, lactate, ammonia, ANA, Anti-DNA, Antiphospholipid.
Which all translates to me walking abnormally, unable to drive a car, fluttering eyes, tremors, poor vision, cramps, dyspepsia, dysarthia, fatigue, urinary frequency.
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