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.

Friday, May 5, 2017

Additional results from KRN23/burosumab studies

The latest press release from Ultragenyx Pharmaceutical, primarily addressed to investors, includes some new data on the healing of fractures in the adult XLHers in the Phase 3 clinical trial of KRN23/burosumab:

"At study entry, 52% of patients (comprising 48% of patients randomized to burosumab and 56% of patients randomized to placebo) presented with either active fractures (12%) or pseudofractures (47%) or both. At week 24, 37% of active fractures or pseudofractures in patients treated with burosumab were completely healed compared to 10% on placebo. Additionally, at week 24, 3% of existing active fractures or pseudofractures treated with burosumab worsened compared to 11% on placebo." 

It's worth noting that the study, in addition to showing apparent benefits for healing, also documents just how widespread the occurrence of fractures and pseudofractures is within the adult XLH community, with roughly half of the study participants having a fracture or pseudofracture! 

You can read the entire press release here:
http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=1024922

Wednesday, May 3, 2017

Collateral Damage

This week, we've got a commentary from the parent of a spontaneous XLHer, who's dealing with chronic pain against the backdrop of negative press about opiates. Here's what the parent had to say:

Did you know that when it comes to pain treatment some professionals do not recognize XLH as a disease that can cause chronic pain? Our family has discovered this first-hand in our XLH treatment journey. A number of well-meaning professionals, friends, and acquaintances have made suggestions for how my XLH child might find some relief (anti-inflammatories, bee-venom studies, Epsom salt baths—we have tried them all). Steroids worked great for a while, but when her kidneys started to shut down, new treatment had to be considered. Unfortunately, only opioids worked well enough for her to work and live with a certain amount of independence and pay for insurance that doesn’t cover any of the costs of this medical problem. The world of opiates, however, has been a tough world to navigate—a world made even tougher by the rarity of XLH.  

Recently, a pharmacist refused to refill an opioid prescription because he didn't “think the level of pain medicines prescribed were necessary.” This prescription was put on hold, not filled, and it could not be transferred to another pharmacy. We have begun to feel like we are collateral damage in our society’s misguided but well-intentioned attempts to fight a war on prescription drug use.

My child is not collateral damage; and no one’s should be. In an attempt to advocate for my daughter and others with severe pain related to XLH, I have researched various foundations dedicated to raising awareness for pain management. I am volunteering with The XLH Network, Inc. to make this problem more well known, and we are hoping to recruit a pain management specialist to the SAB and to create partnerships with other organizations that might benefit members in similar situations. There are no magic solutions to easing my daughter’s pain, but I am dedicated to making sure that those of us in this community who struggle with chronic pain have some pathways to answers.

It has been a long and lonely road so far, so I hope others know that we do not have to travel it alone.

For more information on chronic pain, see the NIH (https://nccih.nih.gov/health/pain/chronic.htm).

For more information on advocacy for patients with chronic pain, see the U.S. Pain Foundation (www.uspainfoundation.org).

Wednesday, April 26, 2017

Ultragenyx Patient Day

The Ultragenyx Patient Day was held this past weekend at the company's Novato location.  Rare disease patients from across the country gathered for a day of networking, family activities and the chance to connect and share with others. Fifty-five XLH families were in attendance and had an opportunity for a meet and greet with board members and our new executive director, Carol LaFleur.

President Bill Coogan reports that the food was plentiful, with Thai, Italian and Mexican food trucks, along with ice cream and gelato trucks and an additional buffet set-up. The featured band, always a last-minute surprise, was Smash Mouth. There were other activities for people of all ages and abilities, with approximately a thousand people in attendance, including patients, family members and employees of Ultragenyx Pharmaceutical and Audentes Therapeutics (gene therapy company). 

On behalf of the XLH community, the Network is grateful to Ultragenyx, Audentes and the people who worked so hard to make Patient Day a memorable experience. 

You can see pictures at our official Facebook page, https://www.facebook.com/xlhnetwork/

Wednesday, April 19, 2017

Use of MRI in monitoring rickets

Back in the 1950s, when it wasn't known that X-rays could be harmful (and the machines emitted much more radiation than they do today), it wasn't unusual for XLHers to have full-body, head-to-toe sets of X-rays done at regular intervals.

Fortunately, today they're done more cautiously, using less radiation, so the benefits generally outweigh the risks. Still, there is some risk from X-ray exposure, which may be of particular concern for children. A recent journal article reminded doctors of this fact. You can read the abstract of "Children, medical radiation and the environment: an important dialogue" from the April 2017 issue of Environmental Research here: https://www.ncbi.nlm.nih.gov/pubmed/28391175

Researchers are looking into the possibility of using Magnetic Resonance Imaging, which do not use radiation, instead of X-rays. Doctors already knew what rickets looked like in an X-ray, but not what it looks like in an MRI.

According to a recent journal article, researchers appear to have figured out a way to identify rickets in an MRI. In an article published in April in Hormone Research in Pediatrics, researchers concluded, "MRI of the knee provides precise rickets patterns that are correlated with ALP, an established biochemical marker of the disease, avoiding X-ray exposure and providing surrogate quantitative markers of disease activity." You can read the abstract here: https://www.ncbi.nlm.nih.gov/pubmed/28376474