Thursday, February 23, 2017

Research brings hope to the XLH community

Patients with X-Linked Hypophosphatemia (XLH) are living the theme of this year's Rare Disease Day: "Research brings hope to people living with a rare disease."

Virtually all of the estimated 7,000 identified rare diseases have no truly effective treatments available, and until recently that was true of XLH. This year, though, XLH patients will be celebrating Rare Disease day on February 28th with renewed hope as researchers are closing in on what appears to be an effective treatment. XLH is a rare genetic disorder that affects approximately one in 20,000 people.

Patients produce an excess of a hormone known as FGF23, which causes them to have low levels of phosphorus in the blood. Without an adequate source of phosphorus, the body cannot form strong bones and teeth or properly fuel muscles. In the absence of treatment, patients experience bone deformities (most commonly bowed legs or knock-knees), short stature, spontaneous tooth abscesses, bone pain and muscle pain/weakness.

The role of FGF23 in the disorder was not known until 2000, when the hormone was first discovered. Since then, research has provided preliminary answers to a number of questions about XLH, and even to a proposed treatment, currently under review by the European Medicines Agency, and expected to be submitted to the FDA in the second half of 2017.

Clinical trials of the new treatment, known as KRN23, have been promising so far. This Rare Disease day, the XLH community is hopeful that with this treatment or others still in the pipeline, children born in the future will grow up strong and energetic.

The mother of a one-year-old infant in a clinical trial of KRN23 notes that this research "means everything to me." She goes on to say that "having this same rare disease and remembering the surgeries and treatments I endured makes me extremely grateful that my daughter is included in this trial."

For parents of slightly older children, there is nothing like the thrill of seeing their children improve noticeably. One mother of a ten-year-old girl notes that she hopes this research has led to a new therapy that will not cause the same problematic side effects of the only other therapy available to XLH patients. "Being part of a research trial has been intimidating," she says, "but it is so worth it. My daughter’s health is clearly better, and we are helping to pave the way for others."

The new treatment also offers hope to older patients whose bones are long past the critical growing years. One sixty-something XLH patient in a clinical trial of KRN23 hopes that the new treatment will prevent her mobility restrictions from getting any worse. "I may walk slowly," she says, "but I get where I need to go eventually. If my condition worsened, I might not be so independent, and that would be devastating."

Founded in 1996 and growing daily, The XLH Network, Inc., a 501(c)(3) non-profit, helps thousands of people around the world who are affected by XLH and related phosphate-wasting disorders. With the generous guidance of a Scientific Advisory Board, the Network engages in education, advocacy, and patient support by providing up-to-date information on diagnosis, treatment, research and clinical trials to patients, caregivers, medical providers, researchers and other key players in the medical services industry. The Network also fosters the search for better treatments and ultimately a cure.

For more about the XLH Network: For more about Ultragenyx Pharmaceutical: For more about the KRN23 clinical trial data: For more about Rare Disease Day 2017:

Tuesday, February 21, 2017

Rare Disease Day February 28, 2017

What will you be doing on Rare Disease Day? There are activities all around the world. Find one near you:

This year's theme is of particular interest to XLHers: "Research brings hope to patients living with rare diseases."

For those living in the U.S., the National Organization for Rare Disorders (NORD) is organizing state-level advocacy events, and could use your support. Find out about those organized events or learn how to organize your own here:

Board member Gin Jones will be on a panel at the event sponsored by Quinnipiac University's Frank Netter School of Medicine in North Haven, CT (a day early, on February 27). You can read more about it (and plan to attend if you're in the area) here: 

Thursday, February 16, 2017

Last chance for Patient Day Scholarship

Quick reminder that Monday, February 20th, is the deadline to apply for a scholarship to the Patient Day sponsored by Ultragenyx Pharmaceutical in Novato, California. Don't wait until the last minute if you want to attend!

Information here:

Tuesday, February 14, 2017

Patient Assistance Programs

We all know that living with a rare disorder has its challenges. Many of them are physical or emotional, but there can also be significant financial challenges.

The current, basic standard of care for patients with XLH consists of two prescriptions, one for phosphorus supplements and one for calcitriol/Rocaltrol. In some cases, where hyperparathyroidism develops, a third medication, cinacalcet, may be prescribed. Access to all three of these prescriptions can be problematic.

In some countries, some or all of these medications may be unavailable. (Please let us know in the comments if you cannot get phosphorus supplements or calcitriol in your country. We'd like to have better information on this issue.) In the U.S., these items are available, but may be cost-prohibitive, since not all insurance companies offer coverage for these prescriptions.  It's not uncommon for insurance companies to deny coverage for phosphorus, arguing it's a "mineral supplement, not a drug." Similarly, they will assert (inaccurately) that calcitriol/Rocaltrol is a vitamin, not a drug. And finally, since cinacalcet is often assigned to the top tier of drugs (meaning it's particularly expensive), insurers will likely require step theory or recommend surgery to remove the parathyroids (even when not recommended by the treating physician) before approving coverage.

If you are a member of the Network (it's free to join at, you can download a sample letter, drafted by our Scientific Advisory Board member, Michael Econs, MD, to share with your doctor to appeal the denial of coverage for calcitriol, explaining that it is not a vitamin, but a hormone that we cannot metabolize on our own.

But that still leaves gaps in your access to treatment. What other options might you have?

There are several patient assistance programs in the U.S. (and we'd love to hear from XLHers around the world who might have other solutions for their own locations) that, in theory, can help improve access.

The programs fall into three groups. The first offers reasonably priced prescriptions to those without health insurance. The second consists of nonprofit organizations who offer help with copayments for those who have insurance coverage. The third consists of the pharmaceutical companies that manufacture/distribute individual treatments and provide assistance to those who cannot otherwise afford the treatment.

To help find an assistance program, and the Partnership for Prescription Assistance  and offer search engines. You key in the name of your treatment, and it will link you to any relevant programs.

For more general information on patient assistance programs, check out this article at WebMED:

Please note that The XLH Network, Inc. does not have any affiliation with any of the above organizations, and does not endorse any of the programs. The information here is merely a starting point for further investigation by individual patients/caregivers.

Wednesday, February 8, 2017

Meet Executive Director Carol LaFleur

We are pleased to announce that Carol LaFleur, an experienced nonprofit professional, most recently as the Executive Director of the Northeast Kidney Foundation, has taken on the role of the first ever Executive Director of The XLH Network, Inc.

We could not have taken this step without the hard work of past and present board members, volunteers and the XLH community, or without a generous grant from Ultragenyx Pharmaceutical. We are extremely grateful to everyone who made this big step forward possible.

It will take some time for Carol to settle in and get to know everyone in our community, from patients and family members to clinicians and researchers, so until then, here's what she had to say in response to our three basic interview questions:

1. How did you get involved with the XLH Network? I found the advertisement on and it piqued my interest. After reading about the organization and learning some of the goals the board wants to accomplish, I became increasingly excited for the opportunity.

2. What's your "super power" -- the special skill, knowledge or experience that you bring to the board? I don't know if I have a "superpower" per se, but I am very passionate about healthcare. Having a long history of working with patients and families, I am very committed to making a difference and helping others understand the challenges anyone living with a chronic illness faces. 

3. What XLH project are  you working on now that you're particularly enthusiastic about? The board has a very strategic vision for where they want to bring the organization, and I am excited to have an opportunity to help carry that out. The clinical developments are very promising as well, and I am excited to be joining the organization at a time that is really positioning the organization for growth. I look forward to working with everyone and learning how I can best be of service!

Thursday, February 2, 2017

Last chance: joint replacement survey

There's just a little over a week left until the online survey about XLHers' experiences with hip or knee replacement will close (Feb. 10th). If you've been meaning to do it, now's the time! And note that you CAN participate in this survey even if you're in a clinical trial.
Here's the link:
The survey consists of an online questionnaire for men and women aged 18 or older with X-linked hypophosphatemia (XLH) who have had a hip or knee replacement. Compensation is offered by way of a Starbucks gift card. 
The researchers have already received some good information that will help to educate clinicians about joint replacements for XLHers, but with just a few more, they'll reach their participation goal and maximize the usefulness of their data.
As always, we encourage you to do your due diligence before participating in a research study. The XLH Network, Inc. does not endorse or critique specific clinical trials, and does not counsel individual patients either for or against participation in any specific clinical trial. Prospective volunteers should always carefully review the clinical trial's informed consent documentation, and discuss the pros and cons of their participation with trusted advisers, including their health care providers and family members. For more information on research participation, check out