Monday, January 21, 2019

XLH Community Connections

We have finalized the dates and locations of our XLH Network regional patient meetups for 2019! We will be calling these regional meetups "XLH Community Connections."

The purpose of XLH Community Connections is to connect you with doctors, patients, and caregivers that live in your region. Each XLH Community Connection will be a full-day educational and social event that will consist of presentations by physicians and other clinicians, patient stories, and roundtable discussions. As part of the XLH Community Connections, we will also have a fun-filled children's program to allow children ages 5-12 to connect with each other. Feel free to bring the whole family!

If you live near one of the planned locations, we hope that you will join us and have the opportunity to connect with others in the XLH community! If we aren't coming to a location near you in 2019, we will host 3 more XLH Community Connections in 2020 tentatively planned for Orlando, Chicago, and Dallas.

NOTE: We also plan to host a gathering in San Francisco on April 12th, the night before the Ultragenyx Patient Day. We hope to connect with many of you there!

Wednesday, January 16, 2019

Meet a Member Wednesday - Shay W.

Here is the first post in our “Meet a Member Wednesday” series. Meet Shay W! She was born and raised in St. Louis, MO and was diagnosed with XLH at 18 months old, and is a spontaneous case. She is married with two beautiful children; ages 3 and 5 months old. Her son was diagnosed with XLH at 12 months old, and her daughter will be tested soon as well.

When asked how XLH affects daily life, Shay responded that age and pregnancy have played a big part in the increased amount of pain that she has every day. She and her husband are looking to move out of their current home, as going up and down the stairs to do simple chores has become increasingly more difficult. However, she anticipates that she will be able to start on the new medication soon, and hopes it will make her a more active mom.

Though there are difficulties living with XLH, Shay does not allow those to get in the way of her passion for sewing. She sews and sells children’s clothes and plans to expand her line to include adult clothing.

Shay found the XLH Network while searching on the internet. Once she connected with others she felt immediately comforted because there were others who had similar symptoms and were going through similar struggles as a result of XLH. “The XLH Network is family to me. I was lost before finding this group of wonderful people, especially since I feel like I don’t always fit in the normal world.”

Thank you, Shay for sharing your story with us! If you are interested in being interviewed, please send an email to our Board member, Kimberly Murray, who will be conducting these short interviews:

Thursday, December 20, 2018

XLH Network Board President Message 2018 - Bill Coogan

It's not often that something life-changing happens to an entire global community, but that can be true for XLHers of all ages in 2019. Next year may see more approvals, all around the world, of the first-ever treatment for XLH (and the related hypophosphatemias) that gets at the root of the problem (phosphate wasting).

But the treatment will only help if the relevant people know about it! Our next big challenge will be to continue to reach everyone in both the patient population and the medical community and to continue to educate all about the realities of living with XLH, why treatment is absolutely necessary and what the treatment options are.

Presently, there's a big disconnect between what the XLH experts know and what's happening in the day-to-day treatment of XLHers by non-experts. While some medical providers are current on their understanding of XLH, there are far too many instances of uninformed medical providers telling patients that there's nothing that can be done to help them (or that their symptoms are unrelated to XLH). Some patients can challenge the bad advice, but may not be able to find any better medical provider, depending on where they live. Or they may lack the knowledge or the resources to successfully challenge their medical providers' statements.

We plan to work on both sides of this scenario. Some initiatives will focus on educating the medical providers so they'll give better advice, and other projects will focus more on educating the patient community about current options so no one will be discouraged by outdated advice.

In this regard we conducted a Patient Focused Drug Development Event in Baltimore, MD on October 5, 2018. It was well-attended by XLH patients, members of the FDA, and XLH medical professionals. The event was highly informative for all. Patients and doctors shared their stories via panel discussions and videos. All left with a better understanding of XLH being a life long disorder.

Looking ahead to 2019, for the health care providers side of the equation, we'll be attending more medical conferences, including possibly going to the meetings of the American Association of Nurse Practitioners and the Endocrine Society Conference. We will also be updating our Clinician's Guide and other XLH materials to distribute at medical conferences.

For the patient side of the equation, we'll be creating and sharing some short videos by experts on various aspects of XLH and updating our patient materials. Plus in 2019, we will be conducting 3 regional meet ups. The first location in 2019 will be Columbus, Ohio on March 30th. More details on all 3 regional events will be shared as particulars are developed. Each will be an excellent opportunity for patients and medical professionals in the region to meet and discuss x-linked hypophosphatemia.

But first, we need to be sure we have the resources we need to carry out these initiatives at a very critical time for the XLH community. Many gave on #GivingTuesday (November 28th) and we want to thank you all for your support! If you were not able to give, you are still able to give by December 31st and have your tax-deductible donation be counted in 2018. Consider giving the gift of HOPE to XLH patients and providers!

Donations can be given here:

Have a Happy New Year! We hope to see many of you at our regional meet ups in 2019!

-Bill Coogan
Board President
The XLH Network, Inc.

Wednesday, September 5, 2018

Burosumab approved for pediatric use in UK

We are absolutely thrilled to announce this morning that burosumab has been APPROVED for routine use on the UK’s NHS for children from 1 years old up to young adults aged 16/17 years.
This news completely changes the landscape for the estimated 250 children living with XLH in the UK. Burosumab will be the first and only treatment that targets the cause of the hypophosphatemia in the body. The treatment helps reduce symptoms during childhood and by reducing bone damage during childhood growth it could mean the potential for a better quality of life for children later in their lives too.
We want to say a MASSIVE thank you to all those individuals who shared their experiences with us and with NICE so that decision-makers could understand what this treatment will really mean to patients and their families. Without all of your input this decision to approve burosumab may not have been made.
For those that can’t quite believe their eyes this morning, please visit NICE for the full guidance on children with XLH. If you have further questions about the treatment and whether it is right for your child then please do speak to their paediatrician that manages their XLH.
Since this news is so important, we at XLH UK have put together a press release. See link.
Whilst access to burosumab on the NHS will just be for children for now, let me assure you that the fight for the adult license has begun.
Meanwhile please please do stay tuned and encourage other XLHers in the UK & their families to join our XLH-UK facebook page because we’re so much stronger together.

Friday, August 17, 2018

Pain Comments to FDA

The FDA recently hosted a Patient Focused Drug Development meeting on Chronic Pain, and the public is invited to provide comments about the information presented, as well as their own experiences with pain. The XLH Network, Inc., provided a full statement on behalf of our community, and a small portion of that statement is included below. We want to encourage our members to review the PFDD information at and to write their own responses and comments if they believe the information will help the XLH community. You can submit your comments here: Comments are due by September 10th.
Pain is a life-long part of the XLH experience that includes chronic bone pain (either due to fractures or due to mineralization defects without fractures), osteoarthritis at an earlier age than the general population due to cartilage thinning, dental pain from spontaneous abscesses, neurological pain from calcifications that impinge on the spinal canal, and pervasive, early-onset bone spurs (enthesophytes) that affect many of the tendon and ligament insertion sites throughout the skeleton and spine.
The most significant downsides to the available current treatments for the pain of individuals with XLH are as follows: 1) they not effective in some patients; 2) they work somewhat but cause significant adverse effects from the drug; 3) they work but at the risk of addiction or stomach, kidney, or liver damage; 4) generally they don't completely resolve the pain, just dull it a bit; and 5) they are a treatment and not a cure, because they don't get to the root cause of the pain.
Some individuals with XLH report having difficulty getting effective dosages or sufficient quantities of pharmacological treatments to handle the extreme severity of pain they experience. Other patients report being viewed as drug-seeking or having a psychosomatic complaint because their pain is both diffuse and severe. In addition, the origin of pain often evolves from time to time without an obvious clinical cause to explain the source of the pain. Finally, many health care providers are unaware that XLH is associated with pain and/or are unaware that there is such a thing as bone pain in the absence of trauma, and this may result, too often, in accusations of drug-seeking behavior or as having psychological issues.

Monday, July 30, 2018

Second virtual walk/run

We are kicking off our 2nd annual Virtual Walk/Run for THE XLH NETWORK, INC as a way to countdown to Baltimore! Our virtual walk/run will take place from July 30–October 7th.
Spread the word and raise awareness by creating a peer to peer page and encouraging your friends, family members, colleagues and others to support your efforts. By becoming a fundraiser for THE XLH NETWORK INC, you will help us continue our mission to help children and adults living with XLH. Raising funds for the Network helps us continue to advocate for you and your families.
For more information and to sign up:

Wednesday, July 4, 2018

Last chance to comment on UK decision about burosumab

There are only a few days left to speak up about the benefits of burosumab before the regulatory agency makes its final decision, possibly denying this life-changing treatment to patients in the UK. To comment, you must register at NICE using this link
The evaluation committee is interested in receiving comments on the following:

a)How do symptoms (both physical and psychological) and treatments (including any surgery) you or your child experienced in childhood affect you in adult life?
b) For children on standard treatment (phosphate and calcitriol), what are the side effects of taking current treatment (phosphate, calcitriol)? How is that a burden for the child and your family?
c) If you have a child who is 1-12 years old and on burosumab, please explain how this treatment is currently helping in the short-term and how you expect that it will help in the long-term.
d) If you have a child who is 13-17 years old and on burosumab, please explain how this treatment is currently helping in the short-term and how you expect that it will help in the long-term.
If you have any questions at all, please don't hesitate to get in touch. Comment below or email us at