Hypophosphatemia & oncogenic osteomalacia

welcome to the club. The test for raised phosphate in the urine seems to be the basic test for this. Have you had any fractures? An MRI will reveal not only the ones you know but also small fractures that you may not know about. It might just find the tumour as well, if you are lucky (it didn't find it in me). The treatment is taking phosphate sandoz and Calcitriol tablets. Both these replace what your body is loosing. Think of it as being like a bucket with a hole in it, you need to replace what the bucket is loosing. Your bones will recover over time, how long depends of how bad they are when you start. A year or more is not unknown.you will have to stay on the supplements for life or until the tumour is removed.

I hope this helps. 

On another note Is there a blood test for FGF23 available? I had an xray of my hip which came back normal and its the one bone that's giving me the most grief.

i am not sure if there is a blood test for FGF23. My own doctor tests for bone profile.

As for your X-rays, have you had a bone density test? If your bone is below normal this may cause the pain even though your X-ray was normal.

Articles are few and far between on the net but the good thing is that most are written by medical staff so you don't get the scare mongering that you normally get.

If you want an expert, ask to be referred to the Royal National Orthapeadic Hospital. They see cases from all round the country so have the most expertise in this area. My doctor worked there which is why he thought to test for it in the first place.

Yes there is a blood test for FGF23! Mine revealed a high normal level

of serum FGF23 at 134 RU/L (normal <181ru/l). 

a pet scan found the suspicious tumor on top of the left foot.  we thought it was a simple ganglion cyst ( i have a history of those) but the pet scan detected uncreased uptake in the foot and it was removed.

i have to go now.  i'll be back with more info.

good luck and a happy and healthy 2015  to all! ). ="" a="" pet="" scan="" found="" the="" suspicious="" tumor="" on="" top="" of="" the="" left="" foot. ="" we="" thought="" it="" was="" a="" simple="" ganglion="" cyst="" (="" i="" have="" a="" history="" of="" those)="" but="" the="" pet="" scan="" detected="" uncreased="" uptake="" in="" the="" foot="" and="" it="" was="" removed.="" i="" have="" to="" go="" now. ="" i'll="" be="" back="" with="" more="" info.="" good="" luck="" and="" a="" happy="" and="" healthy 2015  to="">

a pet scan found the suspicious tumor on top of the left foot.  we thought it was a simple ganglion cyst ( i have a history of those) but the pet scan detected uncreased uptake in the foot and it was removed.

i have to go now.  i'll be back with more info.

good luck and a happy and healthy 2015  to all!>

Its nice to see another person has joined in. As you rightly say, information is scarce and mainly given in medical terms. I would really like to hear how your scan goes and if they find the tumor. I have been looking for information to see how many tumors are found as they have not found mine. The little I have found has not been encouraging so I have accepted that I will have this for life and have to continue taking supplements.

Kindest regards

best

Any comment or suggestion would be welcome !

regards

good luck with the PET scan. This is supposed to be the "gold standard" of scans. It did not show anything for me but you might well be lucky.

As for the Calcitriol and phosphneuros, I am taking similar and, after two years or so,,it seems my bone is now normal. I shall be on these for the rest of my life as they have not been able to find the tumour. That said, this is nothing compared to what some people go through so I will not complain.

please let us know how you get on with your PET scan.

TIO is a very difficult, painful and lonely condition.  Sometimes even the best doctors, friends and family just don't seem to undertand, but we do from experience!  I am from the USA (with Irish and English relatives).  I have joined other "osteomalacia" discussion groups, but, I think this one is the best. The members of this group are caring and informative.

My tumour was removed over 2 years ago.  I have improved greatly, but I still have some pain and walk like a waddling penguin!  I am in contact with a couple of TIO specialists in the USA.  I have an appointment  with one at the Mayo Clinic (Minn) in March.

There is a study in the works to "identify the individualized dose of KRN23 required to achieve stable serum phosphorus..."  It's good to know that some clinical trials exist for this ultra rare (and painful) condition.  I think my FGF23 are in the normal range so I wouldn't qualify.

  Here is a link to it...

http://globenewswire.com/news-release/2015/01/06/695304/10114128/en/Ultragenyx-Initiates-New-Development-Program-Studying-KRN23-for-the-Treatment-of-Tumor-Induced-Osteomalacia.html

All the best! 

My experience has been similar to you except they have not found the tumour. My doctor has been very good and started looking as soon as I saw him. It turns out he worked at the Royal Nationl Orthopeadic Hospital and had seen it there so, unlike most doctors, was well aware of its existace. He started me on phosphate and calicitriol supplements and over the course of several years my bones have hardened to a normal state. It might be worth asking your doctor about theses supplements to see if they would suit you.

It seems unlikely that they will find the tumour now so I will be on the supplements for life but as I have stopped breaking bones its no hardship (i had 22 fractures before this includng both hips).

I have found it hard to find suitable reading as most of it seems to be written for doctors. I seem to spend most of my time looking up the meaning of things in order to try and understand them. I cannot find anything on the long term outlook for people with our condition so if anyone has found anything could you please let me know?

Good luck Jen and let us know how you get on.

I am also from the states & have recently been diagnosed with TIO.  I am so happy to find this forum.  I am curious about symptoms as I too have complained of joint / bone pain for over 5 years.  I ended up in ER with my phosphate levels the lowest they have ever seen.  I would drop from 4.1 to .7 in a matter of hours (even after IV).  My kidneys too are shipping out phosphate at a high rate.  My FGF-23 lab was elevated and no tumors have been found with multiple scans.  I am currently on K-Phos and Dipridamole.  My nehprologist wants to send me to Mayo (Rochester, MN) but not sure who to send me to there.  My phos labs have been WNL, however I get symptoms when they start to drop or it's close to my next dose. Such as; shaking, muslce jerking/twitching, difficulty breathing and of course muscle weakness.  These symptoms seem to get worse with the more activity (such as walking up stairs or doing too many tasks around the house). Does anyone else have these symptoms?  

My endrocrinologist says I will feel "normal" in a year, but my Nephrologist thinks I should feel better now that my phos labs are WNL.  I am getting mixed messages , but also understand that this is not a common illness.  Any feedback would be greatly appreciated. Thank you!

I'm glad you found this forum.  I have had exactly the same symptoms you described.  Even after the tumor was removed and lab results went back to normal, I had  pain, weakness, muscle spasms etc...I have talked to doctors and read articles about this condition and they seen to expect patients to be back to "normal" in about a year after treatment. 

That was not and is not the case for me.  I was told that tumors can return, but in different places or once removed microscopic traces can still be in your system.  My primary care  physician does a general CBC panel at each follow up visit for a thyroid problem.  The alkaline phos levels are going up by 10 points at  each visit.  I am now in the high normal range.  In a couple of months if the trend continues, I will be in the high range again-a marker for TIO.

I don't want to come across as a hypochondriac, but doctors, even those who treated TIO patients don't seem to know enough about it for me to feel confident in them.  There isn't enough information out there to let doctors and patients feel comfortable in what to expect with this condition.

I am going to the Mayo Clinic (Minn) in a few weeks.  I want to ask if there is a way to bring awareness to this ultra rare disease to doctors and patients.  Please let me know if any of you have questions that you would like me to ask.  I will be meeting with a nephologist who has an active clinical and research interest in TIO.

All the best! 

Its nice to see more people sharing their thoughts and problems. I really though at one point that I was the only one with this problem.

I had surgery in December and they took a bone biopsy, this has shown that after taking Calitriol and phosphate supplements for several years my bones have now returned to normal hardness. 

I still have problems with my spine in the neck and lower back areas but the threat of breaking more bones has decreased.

As for the tumours, mine is still hiding but from what I have read if found and removed the blood readings normally return to normal in hours. It still takes time to build up the bones though.

Like other tumours, if it's not all removed it can return or masteses can form, which are tumours in other areas but this is even more rare.

I asked my consultant how rare our condition was and he frankly said that there were no figures available. It obviously needs more research as I am sure more cases are going undiagnosed. The problem is making doctors more aware of it and how to promote interest for research.

If anyone has any ideas I would love to hear them.

My best wishes to both of you.

I feel so lucky that there is this site, and hope i am not taking advantage of your knowledge, but I do have a few more questions.

How much Phos are you taking each day and do you have any long term side effects from it?  

Are you able to work with this condition?  I find that I might have a good day, but then will have a bad day and of course there is no way of knowing what days will be good or bad. I am currently on short term disability, but not sure I can return back to my sales position with this condition.

Thanks again for your feedback, it is very much appreciated!

Kim

I am so grateful for this group and hope that something good will come out of having TIO for all of us.  It's nice to know that others understand.

I am not taking Phos, just supplements for anemia, vitamin deficiencies, Ibuprofen for pain and other meds for other conditions.

I am on long term disability.    There was a time when I could not walk at all and needed a wheel chair because of pain and muscle weakness.  I am better now, but still have what I call "cycles of pain".  It usually affects my left side far more than the right.  I don't know what triggers the cycles .  I do pretty much the same thing every day.  My doctor says that my diet is healthy too. 

The doctor I am visiting is Rajiv Kumar, M.D. Please let me know if you or your doctor have questions. 

I recently joined facebook and found that there is a Tumor Induced Osteomalacia page.   I don't know how patient advocacy groups work, but I would like to ask someone at Mayo could help.  TIO is very likely underdiagnosed and it would be helpful for physicians and patients to be aware of the symptoms for early treatment.

As you can probably tell, I haven't really thought this through.  If anyone has ideas on how to bring awareness group support  research, etc..please let me know your ideas.

Thank you! 

I know now that each of us has individual symptoms but they are all more or less the shame. I would have thought that the medication would follow the same as well but there does seem to be some variation on what the doctors think is best. I take 500 mg Phosphate Sandoz three times daily and 0.5 MCG, seven a day. Plus various pain relieving medications.

I seem to have started from a very poor position which is why it has taken me so long to grow decent bone.

Being in my late 50's and starting from such a poor position has led my doctor to tell me that I will never work again. Your position may not be as bad a mine so please don't get disheartened by this.

I have had several operations to correct the effects of this condition and I always see someone who is worse off than me, albeit with other conditions, but it makes me thankful.

Do not loose hope, we may be raise doctors awareness of TIO, it just needs some thought as to how we go about it.

I am all for bringing awareness to this condition.  Perhaps a good question to ask during your visit to Mayo would be how do we go about bringing awareness. I would be happy to help in any way.  

I have an appointment with my Nephrologist tomorrow & will give him the name of the doctor at Mayo.  

I am currently taking 2 pills of K-Phos 500mg 5x a day (10 total). I was curious if anyone had any potassium (K) related problems.  I have contacted some pharmacists but they do not seem to have access to a phosphate only pill. 

Again, so glad to have others to talk to about this.  Will keep you posted & I am sure I will have plenty of other questions in the near future  

Kim

again thank you for sharing information ! it's so important, particularly while waiting for the next exam, supposed to find my tumor...

Concerning treatments, I'm taking Phosponeuros (200 oral drops a day, in 1liter of water), Rocaltrol (calcitriol) 0,25 µg/3 time/day and Ketoprofen (200mg/day) for pain. As for now (3 weeks treatment), I have no benefits from taking phospore. My diagnosis is recent (mid january) and I'm suffering since less than one year (I have fissures on both feet, one knee, one hip, pelvis, ribs, one hand, ...). After a month off from my job, I'm currently back to office part time (2 days a week). And this is really the maximum I can do, because of pains and fatigue.

I think that unfortunately the page on Facebook is just automatically generated from Wickipedia, it isnt a real page managed by an individual. But I'm not sure. Maybe one day I will have the energy to create one, if I have some help... I will let you know. Looking forward to reading to you very soon.

best regards

paola

I must say that I was impressed, this physician was on the phone with me for about an hour and was very helpful.  She informed me that they can find tumors that no one else can.  Currently there are 8 people waiting to be treated with TIO at NIH.  I feel positive about finding some specialists in the states that can help.

I am happy that NIH physicians are now being supportive.  When I contacted them 3 years ago, they were not very helpful since I was unable to see them (because I was in a wheelchair and in severe pain). 

We have emailed  from time to time.  I think more progress has been made in the past few years.  I was in contact with a male doctor, so, it sounds like they have new people there which is  truly encouraging.   Things are changing for the better!

I wish you all the best!

I did want to let you know that I am going to Mayo first to visit with the doctor you mentioned in an early post, Thank You!

I am very grateful for this forum.

Thank you for letting me know how things are going for you.  I didn't contact the NIH for the clinical trial because I didn't think I would qualify becasuse my FGF23 levels were high average and not out of range. 

I am very happy to hear that they are enrolling for the study.  I'm also happy that you are seeing the doctor at Mayo.  I'll let you know how my visit goes.  Please let me know things go for you.

I too am very grateful for this forum.  It's nice to have the support and understanding of this group.

Have you been to Mayo yet?  I will be going in April.  I wish you all the best!

I will be going to Mayo the week of April 7th.  When will you be there?  I am hopeful that I will be able to get some answers.  I will keep you posted, but also hope your meeting goes well.

Kim

just to keep you all updated on my situation. I think mine is, unfortunately, one of the worse cases here. Here's a quick recap. I was diagnosed when I presented pain in boh legs and lower back following an operation on L3/L4. An MRI showed fractures of both hips, both knees, both feet, sacral joint, hip socket, several ribs and multiple small fractures of the spine. I have had a total of 5 ops at L3/L4 (still getting problems) and now my neck, for which I was operated on just before Christmas. This was anterior cervical discectomy ay c5/6 and c6/7. I was warned that this might not completely release the nerves and the latest MRI proves that to be so. I am seeing my consultant next week to see what can be done.

The good news is that a bone biopsy has shown that the use of Caicitriol and Phosphate has given normal bone strength now.

We all know how hard it is to get this diagnosed and I dread to think what would have happened if I had not, by chance, seen a doctor who had come across this before.

Good luck to you all, I hope your visits all go well.

I will be at Mayo the week after you-April 14.  I hope all goes for you!  Thank you for keeping us informed.

You have been through so much.  I am happy to hear that the bone biopsy has shown normal strength. Hopefully you will feel better improvement.

I am having problems with my neck too and sometimes the left side of my face feels numb with TMJ pain.  I don't know if it is all related to osteomalacia or something else.  I'll ask at the Mayo Clinic.

 Are they any questions you might have for the doctors at the Mayo?

I hope for all the best for everyone!  

I get pain down both arms as well as in then neck. It affects my hands and stops me doing a lot of things.

Could you possibly ask at the Mayo if they know of any research projects being carried out into our problem?

Also, what are the chances of having mastases spreading the rumours around the body?

No one seems to know this side of the pond.

Good luck with your visit.

Yes, I will be very happy to ask about osteomalacia research-particularly  our type, I know it has different names.

I have wondered if it can spread to different parts of the body as well.  During the last visit to my nephologist, he said tumors can come back in other places.  My sister was there too,  I asked her if I heard correctly and she said yes.  I will ask the Mayo doctor if this has been his experience too.

Thanks for the questions and good luck to you.  Cheers! ( :

I went to see the neurosurgeon this week heha decdd that I need screws and rods at C5, 6 & 7 in order to relieve the pressure on the nerves which are causing so much pain in my arms. Due to the previous damage to my lower back and neck, I will still experience pain in them but at least my arms will be ok.

Please keep in touch and let me know how you all get on.

Thanks for sharing the news.  I hope all goes well for your mobility and the pain will diminish.

How did your visit to Mayo Clinic go? I hope you received the help and answers you need. I was supposed to go this week but it was cancelled.  I'll let you know what happens in the future.

Dr. Kumar at Mayo determined that I did not have TIO, which is great news.  I did not want to be away from my family much longer, so I decided to follow up with doctors in my home town vs. staying at Mayo to try and determine the diagnosis.  I was having to wait days to see if insurance would approve scans, visits, etc.  The staff at Mayo were amazing. Dr. Kumar was very knowledgeable and very helpful.  Dr. Kumar did say that there are only 200-300 cases world wide with this diagnosis.   I wish everyone on this site the very best of luck and well wishes.  I also cannot thank you all for the support during this time.

My best to all of you,

Kim

I am so pleased for you. OK, you still need to find out what the problem is but at least you can cross this one off the list. Please keep in touch and let us know how you get on. Who knows, we might all be in the same position as you but dont know it yet.

Thank you for sharing your  experience at Mayo.  I'm very happy that it was good.  I wish you all the best in future visits.  Hopefully, with your doctors, you are getting closer to discovering the diagnosis and treatment that will provide answers and good health!