Wednesday, August 24, 2016

Working with your health care team

Global Genes ( has a really outstanding webinar (video) at its site with suggestions for working with your health care team about your (or your child's) rare disease.

Three particularly interesting points were:

1) it's useful to write out a brief narrative of what the disorder is and what your experience with it is, and bring it with you to medical appointments to make it easy to tell new health care providers the basic information without forgetting anything important;

2) for children who are hospitalized, there are often "child life" professionals who can help with things that aren't exactly medical treatment, but that make the experience better, so be sure to ask for those services; and

3) for both adults and children who are undergoing a wide range of treatment and have had a case manager assigned at the insurance agency, consider that person part of your medical care team and keep him/her in the loop.

You can watch the whole thing here:

Wednesday, August 17, 2016

Representing the XLH community

Even as we're recovering from an amazing XLH Day in Houston, Texas (more on that next week), we're gearing up to represent the XLH community at other events this fall.

First up is the American Society for Bone and Mineral Research (ASBMR) annual conference in September, to be held this year in Atlanta. You can read about it here:

We are part of the Rare Bone Disease Patient Network, which will have a booth at the conference, and is involved in a workshop that will include brief talks on a number of rare bone diseases. The section on XLH will be presented by the Network's Scientific Advisory Board member, Suzanne Jan deBeur.

Karl Insogna, MD, will be one of several doctors talking about "How Discoveries Lead to Treatment of Rare Bone Disease Treatment." His presentation will be focused specifically on XLH in adults.

In addition, several members of our Scientific Advisory Board will also be there for posters and/or presentations, and we'll report back on the details after the event.

Wednesday, August 10, 2016

What's your story?

The Network's board is getting ready for XLH Day, where we're hoping to hear the stories of everyone there. That's only a small portion of our membership, though, so we still want to hear your stories for our book, Weak Bones, Strong Wills, The Stories of XLH.  

So far, we've got submissions from as far away as Russia! And experiences from people ranging in age from early twenties, born after the current treatment was developed, through to those who were born much longer ago, when the treatment ranged from simply ineffective all the way to potentially harmful.

We've got stories from patients and from parents of patients. We'd really like to hear from a sibling of an XLHer, about living in a family affected by the disorder without actually having it oneself.

We'd also like some more focused bits, thinking about a single incident that characterized a single moment in a long life of challenges. Things like how phosphorus supplements and vitamin D tasted before they were introduced in pill forms -- and all the ways you found to hide them instead of ingesting them! Or dealing with the local bully who made fun of your gait/height. How you overcome someone telling you that you couldn't do something you wanted to do. Or perhaps a recollection of a favorite doctor or nurse or teacher or friend, who made a difference in how you looked at your medical condition.

If you already have a topic, and you're having trouble finding the time to sit down and write your story, or if you get blocked when you sit down to write, consider using a voice recorder app on a phone to tell the story (or get an older family member to tell his/her story) in rough form. Then you can transcribe it and do some polishing, without having to face a blank page!

For more info and for submission rules, go  here:

Don't wait too long. The deadline is October 1, 2016, which will be here before you know it!

Wednesday, August 3, 2016

Have you had joint replacement surgery?

A new research study at Quinnipiac University, led by our Scientific Advisory Board chair, Carolyn Macica, PhD, is looking into XLH patients' experience with joint replacement surgery. Please note that anyone currently in a clinical trial is NOT eligible for this study.

Here's the official description:

We are seeking men and women aged 18 or older with X-linked hypophosphatemia (XLH) who have had a hip or knee replacement to participate in an online questionnaire in exchange for a Starbucks gift card. The purpose of this questionnaire is to learn more about joint replacements in patients with XLH. With the information gathered, we will be able to educate clinicians about joint replacements in patients with XLH.

Step 1: The first step is to determine if you qualify for the study. If you are a male or female aged 18 years or older diagnosed with XLH by a physician and you have had either a hip or knee replacement more than 6 months ago, you qualify to participate in this study. You may not be involved in any current clinical trials to participate in the study.

Step 2: Next, you will be asked to complete an online questionnaire about your joint replacement(s). It will take about 30 minutes to complete, so please make sure you have enough time to give thought to each of your answers. You will also be asked to sign a medical records release form and provide us with your orthopedic surgeons name and office number, so please make sure you have those available before starting the questionnaire. You will receive a $30 Starbucks gift card if you complete the survey.

Think you qualify? Click the link below to begin the survey:

Study HIC#: 6316
Principal Investigator:
Dr. Carolyn M. Macica
Contact Information:

DISCLAIMER: 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.

Wednesday, July 27, 2016

Looking to next year

Even as we're putting the final touches on the program for this year's XLH Day in Houston, Texas, we're already thinking about the next event in 2017.

Picking a location starts by finding a keynote speaker. As we're all aware, there aren't that many experts in XLH, and we don't have the funds to transport speakers to our event, so the choice of sites depends on where potential speakers are.

Beyond that, we also look at factors that will increase attendance. That means we're most likely to choose a major metropolitan area (because the population density means there are more patients living within an easy traveling distance) with a major airport for those who might fly to the event. Another important factor is whether there are XLHers in the area who are willing to serve on the planning committee and help out during the event. A nice plus is if there are educational and cultural offerings nearby, like the popular Children's Museum near our previous event in Indianapolis, that might be of interest to anyone thinking of combining the event with a vacation.

Keeping those factors in mind, where do you think we should hold the next XLH Day?

Wednesday, July 20, 2016

Back to school shopping

It's that time of year -- outfitting the kids for back to school. That used to mean trips to the mall, but these days, a good bit of the shopping is done online through Amazon and other digital retailers.

If that's how you shop, please consider using the Amazon Smile program and naming the XLH Network as the beneficiary. It's easy, it'll make you feel good to know that you're contributing to our important work, and, perhaps best of all -- it doesn't cost you anything.

To shop using Amazon Smile, simply go to On your first visit to the site, you will need to select the XLH Network as the charitable organization of your choice before you begin shopping. The site will remember your choice, and every time you shop with Amazon you will benefit our organization and the work we are doing on behalf of families with XLH. If you are already an Amazon shopper, we hope you will consider selecting the XLH Network as your charity of choice and use Amazon Smile.

Another option is to shop using iGive. When you set up an account with iGive and go through their portal to shop at more than 1,700 online stores, a portion of your purchases will be donated to the XLH Network. It is quick and easy, and, once again, you are simply making the same purchases you would make otherwise, but you are benefitting the Network at the same time! You can set up an iGive account here: Just remember to choose the XLH Network as your chosen organization.

Thanks for your support!

Wednesday, July 13, 2016

Breakthrough therapy designation for KRN23

Ultragenyx Pharmaceutical has received "Breakthrough Therapy" designation from the U.S. Food and Drug Administration (FDA) for KRN23 for treatment of XLH in pediatric patients.

This is not the same as getting FDA approval to make the drug available to patients outside a clinical setting, but it is an acknowledgment that KRN23 is the first potential treatment option in development for patients with XLH. The designation is intended to expedite the development and review process when the preliminary clinical evidence indicates that the treatment may demonstrate substantial improvement over existing therapies.

Getting this designation is encouraging news, since it removes some of the delays inherent in governmental reviews, while still providing for patient safety by carefully weighing the benefits and risks.