Wednesday, June 21, 2017

Weak Bones, Strong Wills!

Our book of the XLH community's experiences with the condition, Weak Bones, Strong Wills, the Stories of XLH has been compiled and edited, and now is going through a final proofreading. We think you'll find the stories inspiring, and you'll recognize many of the experiences from your own life or a family member's life.

We're on schedule to have paper copies available for purchase and autographing during XLH Day, and both digital and paper copies will be available then from online retailers like Amazon.com, BN.com, and Kobo.com. We'll share the links as soon as they're available.

Meanwhile, you can see a rough mock-up of the cover art (still a work in progress) at our official facebook page, https://www.facebook.com/xlhnetwork/?ref=bookmarks

Thanks to everyone who submitted a story!

Wednesday, June 14, 2017

McGill Video

McGill University held a symposium last year on "Soft Bone and Tooth Diseases -- what can we do about them?"

You can watch the video of the symposium here: http://www.canalsavoir.tv/videos_sur_demande/cafes_IRSCCIHR_2016/softbones_toothdiseases

Dr. Frank Rauch reviews the basics of XLH, starting at about 10 minute point. Then, at about 21 minutes, Dr. Marc McKee talks about the mineralization process in teeth and the problems that XLH causes for mineralization.

As an added benefit, if you speak French (or at least learned a bit of it), you can follow along with the French subtitles!



Wednesday, June 7, 2017

XLH Day registration to begin July 9

It's almost time to register for XLH Day, which will be held on October 6-7 at Quinnipiac University's Frank H Netter MD School of Medicine in North Haven, Connecticut. We expect the registration site toopen July 9th and close September 16. Please don't try to register before we announce it's open; early registrations will be deleted during testing.

Meanwhile, we're sharing the graphic for this year's event, which you can see at our official facebook page, facebook.com/xlhnetwork. Make sure you're following us there, so you get the most recent news and information.

The graphic merges aspects of the XLH disease process with a Connecticut legend. Hidden in plain sight as the trunk of a Charter Oak tree are leg bones with the varus deformity common to many XLHers.

The legend of the Charter Oak started when King Charles II granted the Connecticut Colony its charter in 1662. His successor consolidated the New England colonies, and when the royally appointed Governor came to collect the charter, heated argument ensued, the candles within the room were blown out, and the charter was spirited away. The charter was hidden in Hartford, in a white oak tree henceforth known as the Charter Oak. Today, you can find the symbol of the Charter Oak on the back of the Connecticut state quarter. 

Wednesday, May 31, 2017

Tumor Induced Osteomalacia

Tumor Induced Osteomalacia is an ultrare condition where a tumor excretes excessive amounts of FGF23, which in turn causes phosphate wasting. It's essentially a tumor-caused (instead of genetically caused) version of hypophosphatemia.

For many patients with TIO, removal of the tumor stops the phosphate-wasting. Unfortunately, however, the tumors are difficult to find and may be located in places where surgery cannot completely remove the tumor. In those cases, the patient may need non-surgical treatment to normalize the phosphorus levels.

There's at least one Phase 2 clinical trial under way to see if the new treatment for XLH (KRN23/burosumab) will also treat patients with TIO, and results will likely be available later in 2017. The study is no longer recruiting, but you can read about it here: https://clinicaltrials.gov/ct2/show/NCT02304367?term=tio&rank=1

A separate, completed study investigated whether an existing treatment, Octeotride, might be used for TIO, but the researchers concluded that it was not effective. You can read about it here: http://onlinelibrary.wiley.com/doi/10.1002/jbmr.3162/full?utm_source=ASBMR%20Feb2017%20e-News%20List&utm_campaign=84cbceefb5-EMAIL_CAMPAIGN_2017_05_04&utm_medium=email&utm_term=0_c35b5c9b70-84cbceefb5-182507117

Wednesday, May 24, 2017

Calcified tissue issues

XLHers frequently experience calcified soft tissue, either in the kidneys (generally believed to be a side-effect of treatment) or in tendons and ligaments (the exact cause of which is unclear at present).

One such condition is OPLL or Ossification of the Posterior Longitudinal Ligament (the ligament that runs down the outside of the spine). These calcifications can occur in a variety of other places too, generally wherever tendons or ligaments attach to the bone. These calcifications are known as entheses and the condition is known as enthesopathy.

A recent journal article discusses whether the current treatment regimen (phosphorus and calcitriol supplements) reduces these calcifications, and unfortunately concluded that it does not. You can read it here:
https://www.ncbi.nlm.nih.gov/pubmed/26176801
And there's a related commentary here:
https://www.ncbi.nlm.nih.gov/pubmed/26439151

XLHers aren't the only ones who experience calcified tissues. There's a whole medical journal dedicated to them: Calcified Tissue, International (http://link.springer.com/journal/223).

You might think "calcified tissue" is a micro-specialty, but there's actually a European Calcified Tissue Society, which meets with the International Bone and Mineral Society every year in Europe (http://ects2017.org/), and there's also an Israel Society on Calcified Tissue Research (http://www.iofbonehealth.org/iof-national-societies/1140).




Wednesday, May 17, 2017

XLH Day fundraiser

The Network has been hard at work looking for ways to expand XLH Day, educate the community about XLH and introduce new fundraising initiatives that will help expand our services! We are happy to announce that we will be adding a community walk/run to take place at the end of XLH Day weekend.  

We are excited to bring this event to Connecticut, and know it will be a great way to educate about XLH! We hope you will join our efforts and participate, either in person or as a virtual team member from the comfort of your own home. Check it out here: 
https://xlhnetwork.networkforgood.com/projects/29363-1st-annual-walk-run-for-xlh


Wednesday, May 10, 2017

A clinician who goes the extra mile

Too often, XLHers experience less than ideal treatment by clinicians who aren't familiar with XLH. But what about the good ones? We know they're out there, and we're looking to recognize the work of a clinician (doctor or nurse-practitioner) who goes the extra mile for XLH patients. Someone who makes sure to keep up to date on the latest information on XLH, despite its rarity. Someone who demonstrates that the patient is a complicated, real person, not just the embodiment of an electronic file.

Do you know a clinician like that? Someone who treats you (or a family member's or friend's) XLH (or the autosomal versions of hypophosphatemia)? You can nominate him/her for a prize to be announced at XLH Day by answering a few brief questions about the clinician here: http://vps.xlhnetwork.org/~xlhforum/forum/index.php?topic=302.0
(Note that you'll need to log in to the platform if you have an account already or create a free account. If you're already registered and you've forgotten your password, follow the "forgot password" link to reset it.)

Please note that while we appreciate and respect the clinicians working in research settings, this particular project is intended to recognize someone who doesn't have the advantages of working in a major research institution (so that excludes the doctors at the various clinical trial sites for KRN23/burosumab).

Don't delay! The nominations will close at midnight on June 18.