Monday, March 19, 2018

Parenting adolescents with a chronic illness

Parenting adolescents or teens can be a roller-coaster for all of us. Parenting an adolescent with a chronic illness has its own set of challenges. Developmentally, your child’s job during this time is to develop their own identity and work toward independence. But when a child with XLH is naturally more dependent on you than their peers for things like medication routines, doctors' appointments, etc., it can create additional anxiety and stress and exacerbate any feelings of being "different." And we all know how an adolescent's stress levels can affect the family dynamic.

So how can you still monitor your child’s medical care and help them gain independence at the same time? Research suggests that allowing children increasingly more responsibility for their own care can help. Letting them have some time with their medical team alone, giving them the responsibility for taking their own meds, encouraging them to find social support among their affected and non-affected peers are just some of the ways an adolescent can take control of their own health and start to feel independent.

We’d love to hear other ideas from parents. What has worked/not worked in your family?

For more information: "Developmental Complications in Chronic Illness"

Saturday, March 17, 2018

In memoriam: Mary Ruppe, MD

The Network is sad to announce the passing of Dr. Mary Ruppe, who treated many children and adults with XLH. Please join us in offering condolences to her family, colleagues and patients.

Dr. Ruppe was affiliated with the Houston Shriners Hospital for Children and the Houston Methodist Hospital, and was well-known for her XLH expertise. She undertook XLH research and wrote or co-write several scientific articles about XLH, including the entry on XLH in Gene Reviews, an online publication of the National Center for Biotechnology Information (part of the National Institutes of Health).

In addition to being a brilliant professional, Dr. Ruppe was also a compassionate clinician, beloved of her patients.

If  you never had the chance to meet Dr. Ruppe personally, you can see a bit of why we all admired her so much by viewing her video from Texas XLH Day in 2016:

Wednesday, March 7, 2018

Physical therapy videos

Have you ever had to try to explain to a physical therapist that there are some exercises you just can't do, no matter how hard you try, because your bones and muscles simply won't move that way?

We've got some instructional videos from a physical therapist who has worked with XLH patients before. Dr. Keith Steigbigl, PT, DPT, CSC, did a workshop on physical therapy for the 2017 XLH Day, and since that workshop wasn't recorded, he graciously arranged to record his recommended exercises separately, so everyone who couldn't attend the event can benefit from his advice. We're grateful to him and to Melissa Templeton, a student at Quinnipiac University's Frank Netter School of Medicine, who performed the exercises.

You can see all four videos at our youtube channel:

As always, be sure to check with your health care provider before starting an exercise program!

Monday, March 5, 2018

Hole in the Wall Gang Camp

The Hole in the Wall Gang camp in Ashford, Connecticut, in collaboration with the National Organization for Rare Disorders is holding a spring weekend for families dealing with rare disorders, May 31 to June 3. It's free, and the activities include fishing, campfires, arts and crafts, as well as opportunities for parents to chat with others in similar circumstances.

If you live in the northeast and your family would be interested, you can apply here:

Wednesday, February 28, 2018


Today is #RareDiseaseDay to raise awareness of rare disease.

In state and national capitols all around the world, rare disease advocates are making an impact and putting a face to rare disease. In Washington, DC, there's a whole week of activities, as you can see from a recap of a previous year's events here :

You too can #showyourrare online or wherever you live.

Please consider a Rare Disease Day gift to the Network and help us work toward a potentially life-changing 2018 for our entire XLH community. You can donate here:

Monday, February 26, 2018

Burosumab approved by European Medicines Agency

The European Medicines Agency has approved the use of burosumab in children (age 1 and up) and adolescents with XLH.

There is, of course, more work to be done in individual European countries to ensure access and to educate both the patient and medical communities.

According to the press release:
The European Marketing Authorization is valid in the 28 countries of the European Union and in Norway, Iceland and Liechtenstein. The first commercial launch of Crysvita is expected to take place in Germany in the second quarter of 2018, followed by other European countries.
You can read the whole release here:

Wednesday, February 21, 2018

Questions about burosumab?

You know that the new treatment for XLH, the antibody to FGF23, and known as burosumab, is under consideration by the U.S. Food & Drug Administration and by the European Medicines Agency with (we hope) approval due sometime in the next few months.

You must have questions about what happens after the approval. We're working on some resources that will answer as many questions as possible about burosumab and how to discuss it with your doctor, your insurer and your pharmacist.

We've been wracking our brains to anticipate all your questions, starting with the belief that they're the same questions we have ourselves. But everyone's experience with XLH is different and everyone has different concerns, so we need your help to make sure we haven't missed any important topics.

So here's your chance to tell us what you've been wondering about for the future of XLH treatment. We won't be answering your questions right now (and we can't advise you on whether treatment is right for you or your family specifically), but we'll try our best to make sure that the materials we'll be publishing this spring will contain enough information to answer all your non-patient-specific questions.

You can send your questions privately to, or post them in a comment at our official facebook page,