My son is 17, he has had chronic bone pain for the last 16 months, he has a history of low vitamin d, t12 compression, hip avulsion fracture, severe pain and weakness, all bone hurt, ribs, back, legs,  he currently takes oxycodone 30mg three times a day for pain, the dr did add Dilaudid for the post procedure (after the biopsy)It helped but there was still pain. he is now starting to feel better.

I feel your pain.  My  20 year son also has severe chronic bone pain, osteoporosis and has had multiple fractures.  We have also had bone biopsy with showed a minerazation defect(focal osteomalachia) and high turn bone turnover but have never gotten a diagnosis.  His blood levels of calcuim and vit D are normal.  He recieved a Pamidronate infusion in October 2004 and that is when the pain began.  He was completely dibilitated at that time as he is now. 

Pain  slowly disappeared over a 3 year period only to return last summer 2009.  He is now unable to walk much and is on medical leave from college. The doctors have not given him anything for the pain. He has started Forteo injections hopefully to remove the 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 but does not have the pain.   We have no family history of osteoporosis or fractures.

Right now, after 5 years we are also low on hope.

Hi Melanie, It was nice to hear your story, also today happens to be my sons 18th birthday.  My son was also offered the same infusion but his Dr decided that it may not be agood idea since that infusion can actually cause bone pain and since she was not certain how to treat his condition or know why he has osteomalacia, she decided not to proceed.  We have an appt this week with a Dr in tucson who treats Osteomalacia. I am hoping that we finally start to get some real answers on his bone condition and treatment.  My son is currently under heavy narcotics for his pain, it helps him get out of bed and go to school, although I do not like him on the meds at least I see him functioning and with pain relief (although not 100%), with out them I would see him in bed in pain and not wanting to move due to the pain.  I feel for you and I hope that your son finds help and treatment.

Marie

Marie,

Tell him Happy Birthday!!!  I pray you get treatment answers in Tuscon and your sons' pain can be stopped. As a mother there is nothing worse than watching you kid in pain.  My son is laying in bed in pain.  Since his condition is chronic the docs will not give him narcotics for the pain so his life is on hold.  We have a bed in the family room for him and he does nothing but wait for the pain to stop.  Any activity increases the pain.  He is anxious to return to college.  Last year he had no pain and was a normal kid, then it came back.

We have been to the Shriners in Montreal(2005), are working with a doctor in Columbus, Ohio and awaiting a second opinion from a Doc at the Shriners in St. Louis.  The doc in St. Louis has presented my boys case at a conference but we have not heard the results.  We have been waiting since October.  We are searching the internet for info and connections to similar cases and that is how we found your post.  I just don't know where to take him next.  We have considered the Mayo Clinic but the doctor we have now says there are really not any nationally recognized metabolic bone disorder specialist there.  The one we see is highly regarded and she is just stumped.

We suspected hypophosphatasia but I believe they have ruled that out. The bone biopsy show focal(spotty) osteomalacia.

Best of luck to you and your son,

Melanie

Hello again, my son read your message,  and I know he feels bad about your sons pain.  Can you tell me if you ever noticed if he complained off not feeling well before the pain ever started, or was the pain a direct cause fron the infusion.  My son began complaing around 14 yrs of age  of feeling weird, or coming down with something, or feeling weak, sore throat on and of for 2 years. Then the pain began an within 2-3 months the pain was very bad to severe.  I don't understand why your sons doctors wont give him treatment for his pain.  When I saw my son cry due to the pain I felt horrible I would go to my room and cry and ask god to please take his pain away. At one point he ended up in a behavioral hospital for 10 days because he was severly depressed, but the doctor there and nurses refuse to believe he was in pain.  In fact they refused to give him pain meds. He hated that place, the doctors there said it was all in his head, Something we have heard from several other doctors.  I have even been accused of being an addict taking him to doctor after docter and that I was in denial, that my son was making the pain up.  Not one doctor ever apoligized after we recieved the bone biopsy result that comfirmed his bone disease.  My sons main area of pain is #1 his spine, lower back, #2 rib cage, #3 legs and the muscles in his legs, although he takes meds even walking a few blocks his legs hurt alot just from a short walk.  This is a terrible disease and I cant understand why not many doctors treat it or know how to treat it. I have seen a specialist in New Mexico, We have seen 4 orthapedics, 1 Nuerologist, 4 endocrinologist, 1 rheumotologist,  1 psyhcologist, 1 counseler, 2 psychiatrist, 1 osteoporosis specilaist, 3 pain specialists, 1 hemotologist, 1 gastroenterologist his primary doctor.  can you believe the very first endocrinologist we saw siad she was almost certain Jacob had osteomalacia and he needed a bone biopsy to comfirm it, with his low vitamin d and all his symptoms she was almost certain of it. Well after 1 yr of struggling to get this done, no doctor would do it, So I traveled to Mexico, south of the border and paid $3000 out of my pocket for an orthapedic surgeon to do the bone biopsy.  This is sad considering Jacob has insurance. 

I would like to hear from you again, I will be praying for you and your family.

I will keep you posted about how the appt goes tomorrow.

Take care

I just read your post and sat here crying.  I am so sorry for your and Jacob's pain.  Sometimes the medical society just doesn't get it and your are a perfect example of that.  I am so proud that you remained strong and believed your son.  It is unfortunate that you had to go to mexico for the biopsy, but aren't you glad you did?  Sometimes life needs pushy moms to get things done.

We have so much in common.  I would love to talk to you.  I could give you my cell phone number if you are interested in connecting.  I can't tell you how many times I have prayed to God for his pain to go away and sat crying in my room also.  We have been dealing with this since October of 2004 and sometimes I feel like I just can't keep going on.  We did have one good year in there and we thought he was over this(summer 2008-summer 2009 which was his freshmen year of college). 

Why wouldn't the first endocrinologist order the bone biopsy?  The one who thought that it might be osteomalacia?  After two years of searching for a doctor we found his current endocrinologist.  She ordered the bone biopsy in 2006 and sent us to an orthopedic surgeon.  We even later biopsied my other son(2007).  Both of them have the same bone problems(low bone density and multiple fractures starting in early grade school), except my younger one(17year old) does not have the pain.

It was years of fractures before I could get the ortho doc to order a bone density test.  He told me I just had accident prone kids.  After Brendan's 6th broken arm and a stress fracture from being kicked in 8th grade, I insisted on the test.  He mockingly indulged me and wow his bone density was abnormal. His first fracture had been in kindergarten. Together they are at 29 fracture to date.

We do not know is the infusion caused the pain or that it was just when it happened to start.  The endocrinologist(she specializes in osteoporosis and metabolic bone disease at Ohio State University Hospitals) can't explain why he has the pain.  He has been on a treatment of Phosphates(Nuetra Phos) and calcitroil(activated vit D) for several years on and off.  We thought it helped pain lessen in 2006 but it may have just been time.  Since the pain returned we started Brendan back on both drugs but the pain level hasn't changed.  Brendan's vit d and calcium levels are all normal though.  Only the bone biopsy, bone density and the 14 fractures are abnormal.

We saw a physical Medicine and Rehab doctor last week and are scheduled for a pain phychologist next week.  These are just to help cope with chronic pain though not fixing anything.  My son has also suffered from depression and was suicidal last fall while trying to go to college with the pain.  It became so severe he stopped leaving his room to go to classes and the dining hall for food at the end of the semester.  He is on antidepressant and I am still worried.  His life is on hold and we have no answers.  As he says, "no one can fix it if they don't know what it is".

His pain is greatest in hips, knees with walking and shoulders(large bones) but can be severe anywhere based on his activity.  If he uses his hands one day the fingers hurt the next day.  He has a very limited life right now and can hurt all over his skeleton even his sckull. 

My understanding is osteomalacia is a condition but if there is no know cause as is our case, they can't treat it.  It is hopeful that your son has a low vitamin D level.  Maybe the Activated vit D therapy will help him.  My sons blood levels are are normal except low Alkaline Phosphates since the infusion.

What type of Doctor are you going to see?  I will pray you get answers and HOPE!  Is Jacob on Facebook?  Maybe they could connect.

Hi,

Well we went to Tucson, Catalina Pointe Rheumatology, What can I say, The dr said he is 1000% sure my son does not have Osteomalacia because when he had his bone biopsy he was not given Tetracycline for 3 days then stopped for 2 weeks then take it again, so mainly for this reason the test is inacurate, also becaue his bone density was essentially normal (just alitlle below average) there is no possible way its Osteomalacia. So I am confused. 

He said that it may be Shuremenns disease, which we were told that 2 yrs ago by one of his orthapedic doctors, due to the fact that Jacob has a compressed vertabre with wedging on a few other vertabres. He states that Shuremanns disease is congenital and painful and plus his first rheumatologist has also diagnosed him with Fibromyalgia. 

Since Jacobs pain started he has gained 45lbs since he can not exercise, if he did he hurts more.   Well, his advise to Jacob was, loose weight, exercise, eat better, see a rheumatologist in Phoenix and continue pain management.

I do not know what to think any more. Every dr says a different thing.  But I must say Dr Maricic was very nice and took his time with us. 

Jacob has not had many fractures. He had fracture of his T12 and an avulsion fracture of his left hip. The back was from jumping in a trampoline when he did a flip and the hip was from twisting when throwing a basketball.

My son actually wants to get of his meds and stop going to doctors, he is tired of it.  But I am afraid of getting him off the meds because I dont want to see him in pain.

I don't think he has facebook, he does have myspace, but I will ask him.  My email is tepamari@yahoo.com. And yes I would like to talk,  I will be out of town this weekend as I am taking my son to see his father but I will be home next week.  602-233-2376.

talk to you later.

Thank you for this information, I found out that my son has Osteomalacia, The doctor is waiting on result for PTH  and alkaline phosphate insozymes? I know that the alkaline phosphate was high, but further results are pending, I will discuss with his dr if osteoporosis medication may help this condition, We have struggled so much to have this biopsy done, It was recommended last May and it took this long to have it done, THe specialist never agreed that my son had bone pain, he was told it was his muscles and diagnosed with Fibromyalgia before the biopsy, My poor son has suffered severe dibilatating paineven walking short distance is painful and he becomes tired. Thank you for your advise:)