son with chronic bone pain

[Melanie1121]

My  20 year son has severe chronic bone pain, osteoporosis and has had multiple fractures.  We have also had bone biopsy with showed a mineralization defect(focal osteomalacia) and high turn bone turnover but these do not lend themselves to a diagnosis.  His blood levels of calcium and vit D are normal.  He received a Pamidronate infusion in October 2004 and that is when the pain began.  He was completely debilitated at that time as he is now.  Pain  slowly disappeared over a 3 year period only to return May 2009.  He is now unable to walk much and is on medical leave from college. He has started Forteo injections hopefully to remove t he pain.
His alkaline Phosphate levels were normal before the Pamidronate infusion and are consistently below normal since.  His younger brother also has had the multiple fractures and bone biopsy with identical results but does not have the pain.   We have no family history of osteoporosis or fractures.

Right now, after 5 years his life is on hold and we are low on hope.

[Melanie1121]

Yes, we have had every thing tested.  It is all normal except bone biopsy results, bone density and since the pamidronate infusion he has a low alkaline phosphate.  alk Phos was normal prior to the infusion. We are working with a endocrinologist specializing in osteoporosis and metabolic bone disorders.

[LivingInHope]

Have they checked is parathyroid glands & hormone levels?  What about his estrogen level (males have it too)?  What about growth hormone and growth stimulating hormone?