• Home
  • Search
  • Login
    • Username: Password:

      Did you miss your activation email?

Author Topic: Meds  (Read 3379 times)


  • Full Member
  • Newbie
  • *
  • Join Date: Jan 2016
  • Location: Australia
  • Posts: 1
« on: November 20, 2017, 02:53:16 AM »
Hi All
It has been suggested that my 17 year old come off all meds now that she has growing. Is this common practice?


  • Full Member
  • Sr. Member
  • *
  • Join Date: Jan 2015
  • Location: Massachusetts, USA
  • Posts: 495
  • Not a doc, just a patient
Re: Meds
« Reply #1 on: November 20, 2017, 01:43:38 PM »
It is common practice, at least with respect to phos/calcitriol. We strongly recommend, however, that you transition your daughter to an endocrinologist with experience treating XLH adults to monitor her systems and to be prepared for burosumab to be approved by the FDA (assuming it is), so you can discuss whether ongoing treatment would be right for her.

The advice to discontinue phos/calcitriol after the growth plates close is NOT because the body no longer needs phosphorus, but because this treatment is not itself entirely benign -- there are potentially serious side effects (kidney calcification and elevated PTH) from the phos/calcitriol, so the risks and benefits need to be compared.  Kidney calcification and elevated PTH do not appear to happen with burosumab, so the decision whether to continue treatment will be different in the future, and there appear to be significant benefits to maintaining phosphorus levels in adulthood. Phosphorus is not limited to use in bones, but plays a significant role in muscle development and function and also to energy levels. It's yet to be seen whether it will also help with dental and enthesopathy/calcification issues, but that's a possibility too.

Given that burosumab may well be available in just a few months (shortly after the FDA decision in mid-April), it's important to have a discussion with the doctor NOW about whether to transition to burosumab then, rather than to simply go off treatment altogether.

As always, I am not a doctor, just a patient, so you need to discuss the risks and benefits of each treatment option with your daughter's doctor. Even if  you decide she should go off treatment, it's important to have your daughter monitored by an XLH-experienced endocrinologist for changes in symptoms, and not simply kicked loose as happens too often. It's common for patients to have symptoms appear again after they go off treatment, and you'll want to catch the change right away and have a doctor in place to deal with them. Too often, patients wait years (decades) before the symptoms get bad enough to go to a doctor, and by then the consequences (calcifications) can be irreversible.

There's a webinar on transitioning a minor to adult treatment (featuring one of our Scientific Advisory Board members, Maya Doyle) here: https://globalgenes.org/rare-webinar-transition-of-care/


  • Full Member
  • Newbie
  • *
  • Join Date: Jan 2015
  • Location: New Jersey, USA
  • Posts: 35
  • Where there is a will, there is a way
Re: Meds
« Reply #2 on: November 22, 2017, 01:16:53 AM »
I went through that recently with my two daughters.  We decided to stop treatment because both suffer from Nephrocalcinosis.  We wanted to see if the kidneys clear a bit in the absence of phosphorous/calcitriol medication.  After 3 years off, my oldest one had a significant improvement in the kidneys.  Her Phosporous dropped too, and her VitD also.  Her PTH rose.  So she restarted the Rocaltrol with no phosphorous.  So far so good, testing again this weekend.  The younger one, however, was put back in Kphos and Calcitriol after 2 years.  Slightly elevated PTH, but developed Osteoporosis. Keeping the treatment until Burosumab is available for her. 

Stopping medication is only temporary, eventually after 2, 3, 15, or 30 years i is likely to return.   There is a balance between bone issues, kidney issues, dental issues, fatigue, pain .... and the balance is different through our lives.  To treat or not to treat, that is the question. 
Marina.  Not a doctor. Just my opinion or experience as XLH patient and mother.