Rare bone disorder

Stasha1 at aol.com Stasha1 at aol.com
Sun Mar 23 23:37:23 EST 1997

My son, age 37, has a rare bone disorder that no one, to date, is able to
diagnose.  He suffers from unexplained fractures, which are not Osteoporosis
nor cancer.  He has been probed, x-rayed, cat scanned, bone tested thoroughly
as well as all other appropriate tests.  After 19 months, still no answers,
and he continues to deteriorate.

Unexplained symptoms:  fractures in ribs, hips, long bones of his body,
Vitamin D125 levels elevated, high albumin levels, low phosphorous levels,
low magnesium levels, calcium in blood is normal, urine shows calcium loss,
blood spots on face and body, fevers and periodic gland swelling (neck/jaw)
on and off, abdominal pain right side, severe bone pain and bone crisis.

Common bone diseases and metabolic disorders, including Osteoporosis, have
been ruled out.  Two years prior to fracturing, he developed a "dizzy
disorder" not related to his ears.

Tests for Gaucher's disease does not show anything in his blood.  Doctors
think it is a "storage" problem, but do not know what is causing him to lose
the minerals from his body and bones.  He has lost 15 pounds, and is in
otherwise good condition.

Tests have been performed at:  Mayo Clinic, Rochester; UCLA Medical Center,
UCSD bone specialists, and he has seen metabolic endocrinologists, infectious
disease specialists, neurologists, oncologists, hematologists, nephrologists,
urologists, gastroentreologists.  Still no solutions or answers.

Medications:  MS Cotin (60mgs. per day); Hydroclorothiazide (12.5 mgs. per
day); Fosamax (10 mgs.);  Fosamax is working, but his mineral depletion does
not allow re-absorption to the bones.

Any help, referrals, suggestions worldwide would be appreciated.

Ann Fagelson
Stasha1 at AOL.com

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