Monday, December 29, 2014

Thank you!

Message from the XLH Network's President:

This has been a tremendous year of growth. We've made incredible advances in educating members, doctors, and the medical community about XLH and its impact on our everyday life. It’s an exciting time for everyone with XLH, especially with a new treatment in development for the future.

Thank you for your dedication and support of the XLH Network. There is still time to make your year end DONATION and support work for a better future for ourselves and future generations. You can help us continue to make a difference in the lives of people with XLH.

The Board of the XLH Network, Inc. is excited that 2015 has the potential to bring real change, and we hope you are as well. Thank you for your generosity and investment in the work we do on behalf of families with XLH.

 Becky Mock, President

Monday, December 22, 2014

Happy holidays!

We wish you a happy holiday season and a healthy new year.

Left to right: Chris Younger, Kathy Buchanan, Gin Jones (front), Bill Coogan (back), Geoff Edelson, Oliver Gardiner and Becky Mock. (Not pictured: Joyce Inman)

Wednesday, December 17, 2014

What XLH and the Network mean to you

You can now see the remainder of the favorite pictures in both the adult and child categories of our photo challenge over at our facebook page:

Before you click on over, or while you're checking out all the pictures, we hope you'll take some time to think about what XLH means to you, and what the Network means to you.

You can make a difference in the lives of XLH patients by making a tax-deductible donation today. Just go here for instructions to pay by check, credit card, PayPal or even by donating stock:

And now for the remainder of the excellent pictures of what XLH means to our members:

In the "child" category, we have Nathan Carpenter, who sees himself flying, with colours that suggest a magical world, and Payton Donnelly, whose picture reflects companionship, friendship and understanding.

In the "adult" category, we have Lizzie Halstead, who represents family and joint achievements, and Sheila Hunter, where the curved mirror has her viewing herself from all aspects and also enables her to create her own world.

Thanks to all the participants in the challenge, and, once again, thanks to our guest judge Laura Hensser.

Wednesday, December 10, 2014

A sneak peak at the photo challenge results

Three months ago, we challenged our members to take a picture (or three) that reflected the theme of "What XLH means to me."

With the help of our guest judge, Laura Hennsser, a photographer and a Curatorial Project Assistant with London's Tate Modern, we've narrowed down the options to three favorites in each of two categories: one for adults and one for children.

Because of the wide range of XLH experiences reflected in the pictures, all of which were valid and compelling, we just couldn't narrow the finalists down any further, so we're declaring all six to be equal winners.

You can see one from each category (adult and child) today at facebook. The adult picture is from Mary Hawley, and captures the idea of having nothing standing in her way, climbing to the top and achieving. The child picture is from Aimee Richardson and depicts being super, successful and strong.

Check back to see the remaining four images next week. Watch for them first in our newsletter and then at facebook.

Before you click on over, though, a quick reminder: if you're doing some end-of-year financial planning, the Network is now able to accept donations of stock. The information for how to make this type of donation is here:

Thursday, December 4, 2014

Last chance to participate

If you want to have some input into future research and the clinical understanding of XLH patients' experiences, you're running out of time to participate in the Burden of Illness survey. The last day to accept input is this coming Monday, December 8.

It's a busy time of year, so don't wait or you'll probably get distracted with other things. Follow this link now:

And note that the survey is available in French now, in addition to English!

Tuesday, December 2, 2014

Simple options for #GivingTuesday

The Network has been doing its job all year, and now, on #GivingTuesday, we're asking our members to let us know our work is appreciated.

If you haven't donated yet this year to keep the Network moving forward, how about doing it now? Here's the link with all the details:

If you have donated already (thank you!) or if a financial donation just isn't in your budget right now, we could still use your help, and it won't cost a penny.

If you're a Twitter user, just follow us: @XLH_Network (or put XLH Network in the Twitter search box). Then reTweet (or favorite) some of our posts, so your followers know about us and what we're doing. With the way Tweets spread exponentially, this will help us reach out to more XLH patients and treating physicians.

If you don't do Twitter, but you have a Facebook account, then like our page: (and remember to like, share or comment at our posts, so you'll keep getting them in the future). This too will  expand our reach to people who may not know about the Network.

That's it. Just five seconds of your time. Seems like a pretty good investment in making sure the Network will continue to work for you, don't you think?

Help us today, on #GivingTuesday: Give money. Give knowledge. Give hope.

Tuesday, November 25, 2014

Giving Tuesday

This year has been a busy one, with lots of firsts, like our recent Midwest XLH Day. Now it's time for another first: our first year participating in #GivingTuesday.

If you've never heard of the event, here's how the official website describes it: "We have a day for giving thanks. We have two for getting deals. Now, we have #GivingTuesday, a global day dedicated to giving back. On Tuesday, December 2, 2014, charities, families, businesses, community centers, and students around the world will come together for one common purpose: to celebrate generosity and to give."

If you appreciate the work the Network has been doing, here are a few ways you can give back on #GivingTuesday.

1. Give money. We're working toward a more stable future for the Network, and that takes financial resources. While we love large donations, they're not the only ones that make a difference. When a large percentage of an organization's members donate, even if the individual amounts are small, that evidence of our members' support can improve our chances of obtaining grant funding. No matter how much or how little you can afford, every dollar makes a real difference. Here's the information on how to make a donation:

We understand that not everyone is in a position to make even a small financial contribution, but there are other ways to give back.

2. Give knowledge. You know about the Network and our mission, so tell someone else about us. Maybe there's someone in your extended family who has XLH, but hasn't joined the Network yet, and you could encourage them to join. Maybe your doctor or dentist treats other XLH patients, but doesn't know about the Network or all the resources we offer. In that case, you could print out some of our brochures (medical here:, and dental here and ask the medical provider to share the information with other patients.

3. Give hope. If you've benefitted from membership in the XLH Network, and are excited about the recent advances in research, tell someone. #GivingTuesday is a perfect opportunity to announce your support of the XLH Network. If you're not already connected with our social media platforms, you can like our official facebook page ( or follow us on Twitter (@XLH_Network). Then you can share our posts/Tweets, and add your comments to let your followers know what the Network means to you. If you're not sure what to say, keep it simple: "I support @XLH_Network on #GivingTuesday and throughout the year."

We are thankful for the support of all our members in whatever form it takes. We hope you'll join us in raising awareness about the XLH Network as we embark on our first #GivingTuesday campaign. You can make a difference: Give money. Give knowledge. Give hope.

Wednesday, November 19, 2014

Helping the researchers

We're coming up on the traditional time to think about what we're grateful for.
We'd like to suggest that you think about some people you probably haven't met: the researchers working on a cure for XLH. They need our help.

Until recently, research was done without much consideration of the patients' day-to-day needs. While a great deal of good work was done, it's not the only way to proceed and may well not be the most efficient way to proceed. Finally, patients are being given the opportunity to contribute to the research in a variety of ways.

At the moment, we in the XLH community have three opportunities to participate in such patient-centered research.

The newest one is the Rudy study, now open for registration to all adults and children with XLH who live in the UK. The aim of the study is to improve understanding of all aspects of rare bone diseases with the aim of developing new tests and treatments to improve patients’ lives. Rudy is led by a research team at the University of Oxford which is funded by the NIHR Rare diseases of Bone, Joint and blood and the Oxford NIHR Musculoskeletal Biomedical Research Unit, University of Oxford. If you are interested in finding out more including how to register please check the library on their website

The second opportunity i s coming to a close just as the Rudy study begins. It's the Burden of Illness study that is available to patients, both adults and children, worldwide. You can read more about the study here:

Please note that this is your last chance to participate in the Burden of Illness study. December 8, 2014 is the last date for the study to accept information.

Another current opportunity is the "graduates" study by Dr. Whyte, which is open to patients who were treated as children at the Shriner's Hospital in St. Louis. If you're eligible for that study, you can read about it here:

As always, the XLH Network, Inc. does not counsel individual patients either for or against participation in any specific research study. Prospective volunteers should always carefully review the study's documentation, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family.

Wednesday, November 12, 2014

Orphan drug status for KRN23 in EU

The treatment for XLH that's currently in clinical trials, KRN23, was recently granted "orphan drug status" in the European Union.

As explained in the press release from Ultragenyx, "The European Commission grants orphan drug status for medicinal products intended to treat diseases or conditions that affect fewer than five in 10,000 people in the European Union. The designation provides certain benefits and incentives in the EU, including protocol assistance, fee reductions, and ten years of market exclusivity once the medicine is on the market." 

Getting this designation is an important step toward bringing KRN23 to the market in the EU. Orphan drug status was already granted in the US in late 2009.

You can read the press release here:

Sunday, November 9, 2014

Midwest XLH Day registration is closed

Registration for our first Midwest XLH Day on November 14-15, 2014 in Indianapolis, Indiana has closed, and confirmation letters for the complimentary hotel rooms are being sent.
If you originally thought you'd be unable to attend, and are now able to, please contact to see if it's possible to add you to the registered attendees. You will not be able to register on the day of the event.
For all the registered members, you can see the updated bios of the speakers at We look forward to seeing you in Indy!

Wednesday, November 5, 2014

Message from the President

The XLH Network is at a watershed moment, where for the first time ever, there's hope for an effective treatment for both children and adults with XLH within the next five years.

The Network's mission involves education, awareness, and support for the XLH community.  Until recently, with no hope for more effective therapies, we've been primarily focused on providing support for our members through the listserv and a website that provides the most current information on XLH, diagnosis, treatment, and ongoing research. 

While our mission remains the same, we have much more work to do today given the explosion of research into bone metabolism and FGF23. It's more important than ever to reach out to everyone diagnosed with XLH and everyone who might diagnose a patient with XLH.

We can't embrace these new challenges without funding. 

2015 must be a year for securing our stability. This year, we raised a fair amount of money from our member donors, the International Society of Pharmaceutical Engineering, and Ultragenyx Pharmaceutical, Inc./Kyowa Hakko Kirin Co., Ltd. Some of the money raised in 2014 was invested in a strategic planning weekend to set goals for our future work, and grant money specifically supported exhibiting XLH information at medical conferences. The remainder of the money was earmarked for two XLH Days (one in Indiana in a few days and another on the west coast in 2015).  

This one year's infusion of money won't last forever, though, and if we want to continue offering our services to an ever-growing membership, we need your help. We work as a virtual organization dependent on hours of volunteer time given by our board. This must change. We need your financial support so we can keep pace with the growing demands of our membership by moving forward with professional staff. A little or a lot, whatever you can contribute would be greatly appreciated. 

Thank you to each one that donated last year. If you have not donated before, please donate this year. Every donation counts. Help us serve adults and children with XLH everywhere. We can't do it without you!


Becky Mock, President

Monday, November 3, 2014

Last chance to register for Midwest XLH Day

Time is running out!

Join us for our first Midwest XLH Day on November 14-15, 2014 at Riley Children’s Hospital in Indianapolis, Indiana! At Midwest XLH Day, you will meet other families dealing with XLH, discuss the challenges, learn how others cope, and develop new strategies for managing your own or your child’s symptoms.

The last day to register for this event is November 8th.

Please go to, learn more about the event, and register now.

We look forward to seeing you in Indy.

Wednesday, October 29, 2014

Last call for photo challenge

The deadline for our challenge to capture "What XLH means to me" in a picture is coming up fast: this Saturday, November 1.

We've got some great pictures for our guest judge (Laura Hensser, a photographer and Curatorial Project Assistant with London's Tate Modern), but we'd like to see some more!

Remember that we're looking for a wide variety of experiences, not limited to time spent in medical and dental offices. No one thing defines us all, or captures every moment of our lives. So, let's see the diversity of what XLH looks like!

If you'd like to participate in this challenge,  there are just three things to remember:

1. You  have to be a member of the Network (or the child of an adult member) to participate.

2. You can submit up to three pictures per member by sending the digital files to In the subject line of the email, please indicate either: "challenge, adult" or "challenge, minor."

3. Some pictures may be chosen for promotional use by the Network, so we'll need to have a written release from you. Along with the picture file(s), please attach a PDF file of the signed photo release (parents/guardians must sign for anyone under the age of 18). You can find the release here:

If you can't scan the signed release to send it back as a digital attachment, you can print the form, sign it and mail it to our headquarters: 911 Central Ave. #161, Albany, NY 12206.

If you have any questions that aren't addressed here, please post them to the listserv, so everyone can see our answers.

We can't wait to see your pictures! We'll share the very best with you in December.

Wednesday, October 22, 2014

Donations of appreciated stock

A number of our members have made inquiries about whether or not they can donate stocks and securities as part of their giving to the efforts of the XLH Network, and we are excited to inform you that now you can!

Your gift of appreciated stocks or securities (sometimes recommended for tax or estate planning purposes) can help further the mission of the XLH Network and change the lives of families living with XLH. 

Electronic or depository trust company (DTC) transfer of stock through a broker can be made through the Wells Fargo Advisors Financial Network account held by the XLH Network. For instructions on completing an electronic stock transfer or handling gifts of physical stock certificates, contact one of the following individuals:

Geoff Edelson, XLH NetworkTreasurer: 
Chris Inman, CFP® with Wells Fargo Advisors Financial Network at 601-602-3571 or

We will need to know the donor name, address, phone number, email address, and details of the contribution so we can acknowledge the gift. 

Monday, October 20, 2014

Midwest XLH Day

Join us for our first Midwest XLH Day on November 14-15, 2014 in Indianapolis, IN!  

At Midwest XLH Day, you will meet other families dealing with XLH, discuss the challenges, learn how others cope, and develop new strategies for managing your own or your child’s symptoms.

Due to a generous educational grant from Ultragenyx Pharmaceutical, the XLH Network is offering a limited number of free hotel rooms on Friday, November 14 for up to 30 families, a reception on Friday evening, an educational program and lunch on Saturday, and tickets to the Children’s Museum Saturday afternoon.  Guest speakers for this event will be Erik A. Imel, M.D., Alison Skrinar, PhD, and Scientific Advisory Board member, Carolyn Macica, PhD.

We are pleased to announce that registration for this event is officially open.  Please go to and register now!

You must be a Network member to register, but joining is free. Just go to, click on "become a member," and follow the links.The last day to register for this event is November 8th.

We look forward to greeting old friends and making new acquaintances!  

Wednesday, October 15, 2014

Study of Mobility, Gait, ROM & QOL

Our Scientific Advisory Board chair, Dr. Carolyn Macica, is the lead investigator in a new research study of XLH patients, looking into mobility, gait and range of motion issues. She's looking for adult volunteers with XLH.

Here's the official announcement, sent to us by Dr. Macica:

Study of Mobility, Gait, Range-of-Motion and Quality of Life in Patients with X-linked Hypophosphatemia

We are seeking 40-65 year old men and women with X-linked Hypophosphatemia (XLH) to participate in a research study at Quinnipiac University (Frank H. Netter School of Medicine, North Haven, CT). The purpose of this study is to learn more about the impact of XLH on the daily life and activities of adults with XLH. Using the information we learn from this study, we expect to gain a better understanding of the day-to-day challenges facing adults with XLH and, ultimately, hope to develop evidence-based strategies that lessen the burden or even help overcome these challenges.
STEP 1: To see if you are eligible for this study, you will be asked to answer several questions about your XLH and physical activity.
STEP 2: The study team will review your answers (consisting of Dr. Macica, a radiologist, physical therapists, an occupational therapist, and a social worker). If you are deemed eligible, they will invite you to participate in the study.
STEP 3: If you choose to participate, you will be asked to come to the Netter School of Medicine in North Haven, Connecticut and will undergo:
i) an x-ray to assess your bone and joint health; ii) measurements of your arm and leg muscle strength, and of your joint range of motion; iii) measurements of the way you walk, your posture, and your balance in the Motion Analysis Lab at Quinnipiac University; and iv) completion of survey materials and a one hour in-person interview and to assess your well-being as it relates to the impact of XLH on your day-to-day activities.
The study does not involve the use of needles or invasive procedures, and all aspects of it can be completed in about 4-5 hours during a single visit. Selected students, who are training in the health professions, will also observe and participate in the study as part of their academic experience and to learn more about rare bone disorders.
Cost of travel and lodging will be covered for patients who qualify for this study. As a token of our appreciation, eligible participants who complete the study will also receive a $50 payment using a generous donation from the The XLH Network, Inc.
This study will also include an additional online survey for individuals 18 and older, to better understand the experience of living with XLH as an adult, and the transition to adulthood and adult-oriented care for those diagnosed in childhood.

Study HIC#: 5414
Principal Investigator: Dr. Carolyn M. Macica
Patient coordinator: Erika J. Parisa
Contact information:

AND A FINAL NOTE FROM THE XLH NETWORK: As always, the XLH Network, Inc. does not counsel individual patients either for or against participation in any specific research study. Prospective volunteers should always carefully review the research study's informed consent documentation, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.

Wednesday, October 8, 2014

Some initial survey results

The lead scientist in charge of the Burden of Illness survey that we've been talking about (if you haven't taken it yet, consider doing it now by clicking here), Ali Skrinar, PhD, MPH, with Ultragenyx was kind enough to share with the Network's Board some preliminary information about what she's learned already from the responses to the survey.

We can't get into all the details, especially since this is just preliminary information at the mid-point of collecting data, but Dr. Skrinar is excited about what she's learning and finally having statistics to back up what we know anecdotally. It won't come as any surprise to an XLH patient that the data confirms that, as a group (and this is a generalization, with outliers, so it doesn't necessarily apply to everyone), we're shorter than most, we have more bone/joint pain than most, and we have dental issues.

No surprise, right, but this is the first time that we know of, where researchers had data to back this up, and scientists don't believe anything without data (or, actually, without multiple sets of data, but for right now, we're happy to have one set!). The plan is for this data to be published, so there will finally be a medically recognized resource that both medical professionals and patients can refer to.

Dr. Skrinar was thrilled by the response so far, but like us, she's greedy for more, more, more. The more data she has, the more confidence she can have in her conclusions and the more attention the medical community will pay to the survey results.

The data collection will end December 8th, so we're getting down to the final weeks. She'll be grateful for any additional responses whatsoever, but in particular, she'd like to see more responses on behalf of children. (Note that the early glitches reported with respect to filling out the survey for children have been fixed, so if you held off, there's no need to wait any longer.)

Dr. Skrinar also has on her wish list the possibility of hearing from more adult males, since significantly more adult females have responded than males. For years, it's been reported, both in personal conversations and in journals, that the symptoms may be more severe in male XLHers than female XLHers. While this survey doesn't directly address that issue, it's possible that getting more responses from XLH males will give researchers at least a glimmer of an idea of how to investigate that issue.

As always, the XLH Network, Inc. does not endorse or critique specific research surveys, and does not counsel individual patients either for or against participation in any specific survey. Prospective volunteers should always carefully review the research survey's informed consent documentation, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.

Wednesday, October 1, 2014

An easy way to contribute

This week we have a note from the Network's fundraising chair, Joyce Inman: 

Did you know that the XLH Network is one of the many charitable organizations registered with the Amazon Smile program?  This means that if you are an online shopper with Amazon, you can set up your account so that Amazon gifts .5% of your purchases to the Network!  I don't know about you all, but the ease of online shopping has changed my life for the better.  I love that I can purchase a new book or order Christmas gifts for family members who live across the country.  I suppose I have bought into America's fascination with instant gratification.  This, however, is not all bad!  Now I can make purchases I am going to make anyway and a small portion of the amount I spend will go to the XLH Network—an organization that is very important to me and my family.

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.  Every little bit counts!

Wednesday, September 24, 2014

A strategic plan

The Board of Directors met in August to do some much-needed Strategic Planning for the Network. After an intense weekend, we now have a roadmap for the next few years. The bottom line: there's an overwhelming amount of work to do, and a lot of expenses to pay for. Even though we're an all-volunteer organization at present, there are still substantial costs.

Our basic annual overhead (postage, website, state registrations and filings, one in-person board meeting, etc.) amounts to approximately $10,000 per year. We had a presence at three major conferences this year, and we'd like to attend more. At a minimum, we should be sending at least a couple people to represent the Network at the key gatherings for endocrinologists (like the ICE/ENDO conference our president Becky Mock attended in June), bone metabolism doctors and researchers (like the ASBMR conference that Becky and our treasurer Geoff Edelson recently attended), pediatricians and dentists.

No matter how much we work to minimize the expenses, conference attendance can be costly even though we do our best to get "scholarships" to waive some of the fees. In addition, we have to cover the cost of printing/shipping flyers and other booth handouts, and the custom-designed banner for the booth (a one-time cost incurred this year, to be reused as long as possible).

If you do the math, it works out that in order to attend four conferences a year, we need to have between $12,000 and $16,000 available in our budget, in addition to the $10,000 of overhead costs. That brings our annual budget, for the absolute minimum amount of work we'd like to be doing, to around $25,000.

The minimum budget doesn't include anywhere near all of the projects we'd like to be doing. This year, we made our first-ever donation – but not as much as we would have liked – to an XLH clinical research project (more on that later), and we'd like to support significantly more such research. There are also plenty more important conferences we could attend, up to one a month, but adding eight more to our schedule would require an additional $30,000 in the budget.

Another major project that we're nibbling away on, as monies become available, is increasing the opportunities for members to interact with each other more, both in person and virtually. We're also looking into ways to better recognize our global community by sharing information and support in multiple languages. These two projects alone will add significantly to our budget (in addition to hundreds of hours of unpaid work donated by board members and other volunteers).

An even more expensive project in our Strategic Plan is the ultimate goal of hiring a full-time executive director to take care of the Network's day-to-day business, freeing the board members to focus more on the strategizing and hands-on work that only someone who has direct experience with XLH can do.

Sure, those are huge, long-term goals, and we'll need to take some baby steps to get there, but with your support, we can do it.

Wednesday, September 17, 2014

A different kind of challenge

Since the Network's inception in 1996, the members have talked a lot about our medical challenges and experiences, but now we'd like to expand the conversation to get a better idea of what our lives look like. Toward that end, we're challenging you to take a picture (or three) that reflects the theme of "What XLH means to me."

Before you start focusing your camera, take a minute to reflect on the wide range of the XLH experience. It's an unfortunate fact that many XLH patients (and their caretakers) spend more than their fair share of time in medical and dental offices, but there's so much more to our lives than those experiences. An XLH child competing on the swim team, winning a ribbon at a science fair or rebuilding a car engine is every bit as much a part of the XLH life as the doctors' visits. Sure, sometimes there are tears, but other times there's laughter, or at least determination and courage, in the face of challenges. No one thing defines us all, or captures every moment of our lives. So, let's see the diversity of what XLH looks like!

We'll collect the pictures for the next six weeks or so (until November 1st), and then share the very best ones with the our global community in December.

We're particularly excited to have a talented guest judge, Laura Hensser, who will choose those very best pictures after the board of directors has narrowed down the submissions to a manageable number. Laura Hensser is a photographer and a Curatorial Project Assistant with London's Tate Modern. She has a Masters of Curation from the Chelsea School of Art in London.

If you'd like to participate in this challenge,  there are just three things to remember:

1. You  have to be a member of the Network (or the child of an adult member) to participate.

2. You can submit up to three pictures per member by sending the digital files to In the subject line of the email, please indicate either: "challenge, adult" or "challenge, minor."

3. Some pictures may be chosen for promotional use by the Network, so we'll need to have a written release from you. Along with the picture file(s), please attach a PDF file of the signed photo release (parents/guardians must sign for anyone under the age of 18). We'll have the download link soon. If you can't scan the signed release to send it back as a digital attachment, you can print the form, sign it and mail it to our headquarters: 911 Central Ave. #161, Albany, NY 12206.

If you have any questions that aren't addressed here, please post them to the listserv, so everyone can see our answers.

We can't wait to see your pictures!

Wednesday, September 10, 2014

Tips for sending your XLHer back to school

Today, our guest blogger is Jennifer West, the mother of a spontaneous XLHer, who lives and works in the Wisconsin Northwoods.

If you're a parent with young children, you're probably buried somewhere under a pile of school registration forms, early-release forms, health forms, snack forms and help-me-get-to-know-your-child-better forms (I filled that one out last night. Truth). 'Tis the season for organizing and setting new routines.

But when you have a child with XLH, those forms can take a tiny bit longer (how many times can you write X-linked hypophosphatemic rickets without your hand cramping up?). You probably have a few extra worries, and you're probably anxious at handing off an expensive bottle of Calcitriol to the school nurse. To help you, here are five things I've learned about school, my child and how to handle XLH.

1.     Talk to the right people; provide the right resources
My XLH daughter started second grade this year. Each year, I've talked to her primary teacher about XLH before or on the first day. I also provide the URL for the XLH Network website, and all of her teachers have taken the time to research her condition. I make sure to include the gym teacher, so that person is aware of any physical limitations.

2.     Organize meds. Know who's giving them. Check in often.
We've had various people administer our daughter's meds, including daycare providers, school nurses, sitters, grandparents, etc. My daughter takes a liquid form of Calcitriol, rather than a pill; the dose is small and the syringe is hard to read, so I go over the instructions very carefully. We now provide a "guide" syringe where we've marked the dosage with a piece of electrical tape, just to avoid confusion. (This helps with overnighters or play dates when you have someone new giving meds.) Also, check in occasionally with the office or school nurse to make sure they have enough of everything.

3.     Supply extra comfort care.
Provide the school with a non-prescription pain med just in case it's needed. Also, talk to your teachers about what to do if your child is in pain. Maybe the first approach is heat or rest, and if that doesn't work, go for a pain reliever. Have a plan on how to deal with associated aches and pains. You can even consider sending in a heat wrap for the teacher to keep in the classroom.

4.     Give age-appropriate answers
When our daughter first went to school, I was worried about how she would respond to inquisitive classmates. What I found out was she had her own answers to their questions. When asked why she takes medicine, she tells her friends, "To help my legs grow better." Consider crafting some simple, age-appropriate answers with your child. It's amazing how quickly kids dismiss things. They don't typically need an in-depth answer. They just need an answer. 

5.     Just breathe.

Enjoy the school year, moms and dads and caregivers. You are an amazing bunch. XLH is only a tiny part of our kids' stories. They have so many things to discover and they'll surely surprise us in so many ways this year. Just. Breathe.

Wednesday, September 3, 2014

Meet Treasurer Geoff Edelson

1. How did you get involved with the XLH Network, and then how did you become a member of the Board of Directors?

I'd been a member of the Network since 2002, and was an early financial donor to the organization. I started to think about volunteering for the Board after I attended a couple round-table discussions of XLH patients and Network officers at Yale. I'm afraid I missed the first deadline, but was elected to the Board early in 2012. After one year as an at-large Director, I was elected Vice-President for my second year on the Board, and then Treasurer that started at the beginning of this, my third year on the Board.

2. What's your "super power" -- the special skill, knowledge or experience that you bring to the board?

I bring the snacks to the in-person meetings! On a more substantive level, I've always been pretty good at finding common ground to create a clear path forward when discussions become heated and there is not full agreement on how to proceed. I try to pull from my considerable business and non-profit experience to contribute as best I can. I also understand what it's like to be experimented on. I've been participating in clinical trials since the age of ten, so I totally get that gig; including the excitement, apprehension, and disappointment.

3. What XLH project are you working on now that you're particularly enthusiastic about?

Something that came into particular focus for me at our recent Strategic Planning event was that in order to serve our membership properly, the Network can't continue to operate on a year-to-year shoestring budget. We need a predictable and sustainable financial base, so we can commit to projects that will benefit our members across a wide range of services, including advocacy, education, facilitating interaction with other members, arranging social events for both children and adults with XLH, and supporting medical research into our condition. The Board is looking forward to the day when, among other long-term goals, we can afford to hire an executive director to work full-time on behalf of the members, something that we, as volunteer board members, simply can't do. The only way to reach that goal is through donations from individuals, charitable foundations, and business entities, and I'm dedicated to helping the Network undertake that fundraising.

Wednesday, August 27, 2014

KRN23 study in Japan and Korea

Researchers are looking for adult XLH patients in Japan and Korea, to participate in a study involving KRN23, the antibody being developed to reduce excess FGF23, which appears to be at least part of the root cause of XLH patients' symptoms.

You can read more about it, and get contact information, here:

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 advisors, including their health care providers and family members.

Wednesday, August 20, 2014

XLH Video won Telly award

The video on Growing Up With XLH (which you can see here) was entered in the Telly Awards, which "honors the very best film & video productions, groundbreaking online video content, and outstanding local, regional & cable TV commercials and programs."  

And it won the bronze award in the Health & Fitness category!

Board Member Bill Coogan went to Quinnipiac University to meet with the people behind the video's production, which included the Network's Scientific Advisory Board's chair, Dr. Carolyn Macica, Peter Gallay (holding the Telly Award) and Justin Schussler. Peter led the video team, which included Justin Schussler, Michael Vaspasiano, and a student intern, Justin Hall. The video has been viewed in excess of 1,700 times since April.

Wednesday, August 13, 2014

Top 5 Reasons to take the Burden of Illness Survey

Reason #5... It's easy. To get started, just click here: or go to

Reason #4...If everyone does it, I'll stop pestering you about it, and we can talk about something more fun like chocolate and parties.

Reason #3...You can be a part of history. This survey has the potential to be the first-ever comprehensive collection of XLH patients' symptoms and related conditions. (Alternatively, or in addition, if you were a patient at Shriners' Hospital, they are recruiting their "graduates" -- adults who were treated there as children -- for a follow-up study, which you can read more about here:

Reason #2...You'll be helping to pave the way for better treatment for yourself, as an adult with XLH. Once there's a database correlating our symptoms with XLH, you're less likely to get weird looks from your doctor when you mention your wide array of symptoms, and you won't have to keep asking, "Is this new symptom related to my XLH?" because you'll be able to look up the answer in the published results, or refer your doctor to those results.

Reason #1....and this is really what it's all about .... you'll be helping to pave the way for better treatment for your children and grandchildren. Especially if  you have minor children, and can enter their information into the survey, you'll be helping to provide much-needed information that all future pediatric patients will benefit from. The more participants there are in the study, the more the scientists can learn.

As always, the XLH Network, Inc. does not endorse or critique specific medical research, and does not counsel individual patients either for or against participation in any specific medical research. Prospective volunteers should always carefully review the medical research's informed consent documentation (which is included at the survey site), and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members. 

Wednesday, August 6, 2014

A few good volunteers

As we mentioned in the Mid-Year Report a few weeks ago, the Board has been busy, and we expect to be even busier over the next eighteen months, now that we have a Strategic Plan in place.

Over the last year a number of our members have volunteered to serve on committees and write for our blog, and with our new Strategic Plan in place, with dozens of action items, we need even more volunteers!

As your intrepid blogger, I can always use a short commentary from a member about the challenges and triumphs of living with XLH (or especially about parenting an XLH child), similar to the pieces written by volunteers SJ Hunter, Jennifer West, Rachael Jones, and Andrew Shortall.

We also hope to do more fundraising in the future, so we can ensure the organization's sustainability and make our communities aware of the ways XLH affects people they know and love. The fundraising committee could use some support, and not just financially! If you are interested in organizing an event in your local community, let one of us know, so we can send you our fundraising guidelines.

As we grow, we'll be having a presence at more events in various parts of the country to educate the medical/dental community. Sending multiple Board members to those events to represent the organization can be costly, and doesn't fully take advantage of the skills and knowledge of our members, so we'll be looking for members who live near events to assist at them. Most of the dates and locations aren't determined yet, but if you'd be interested in assisting a Board Member in a booth at a medical conference, let us know, and indicate the general geographic area that's within a commuting distance for you.

Finally, we have a couple initiatives in the works for improving members' social interaction, so we can meet each other in person; we'll need a handful of volunteers to help with those efforts. We're currently forming a committee to organize these events, and we'll be announcing another social-interaction project soon, both of which will require several volunteers to supplement the work the Board can do.

I know we have some wonderful, knowledgeable and skilled members. If any of you can spare just a few hours every so often, or perhaps a few days a year, for the Network, please let me know (gin.jones at Together, we can do great things.

Wednesday, July 30, 2014

Meet Director Joyce Inman

How did you get involved with the XLH Network, and then how did you become a member of the Board of Directors?

My daughter was diagnosed with a spontaneous case of XLH when she was two years old.  My research led to the Network, and I was overwhelmed with how meaningful it was to talk with other families dealing with this disease.  I felt  alone, and I had a lot of questions.  In addition, I live in a state that only has two pediatric endocrinologists, and they are affiliated with the medical school that is two hours from our home.  I needed help figuring out how to get my daughter effective treatment, and my correspondence with both board members and listserv members assisted me in doing that.  One of my favorite memories involves a member in Canada who emailed me after I posted a question about my daughter's abscesses.  We began sending each other pictures of our children with their smiles that included very few teeth.  Her son had never seen someone else with XLH and neither had my daughter.  Even at a young age, I think they felt better knowing that they were not by themselves on this journey. 

I joined the board after having only been affiliated with the Network for about a year.  I wanted to try and help others who found themselves in the same situation.

What's your "super power" -- the special skill, knowledge or experience that you bring to the board?

I do not think that I have any super powers, and I am so busy at this stage in life that there are a number of super powers I wish I had!  I am an assistant professor of English and a university administrator, and my job requires that I work with all types of students, colleagues, and community members.  I find that this allows one to be a good listener and diplomat.  I would say that these are skills that are especially helpful when working with an organization such as ours.  In addition, I am an educator.  I now see my own life's mission as educating others about XLH—my teaching is not just about writing anymore.

What XLH project are you working on now that you're particularly enthusiastic about?

I think our new communications efforts are something about which we need to be especially proud.  We are doing so many things behind the scenes—attending important medical conferences, consulting with pharma companies and medical professionals, creating new materials for patients—and I am excited to see that we now have a venue for publicizing this work to our members!

Wednesday, July 23, 2014

The maturity of XLH patients

Today's guest post is by Network member, Andrew Shortall. He was diagnosed with XLH at age two, and has become a self-taught chef, wine business person and a writer, with aspirations to become a novelist. You may remember him from a few months ago, when he shared his experience with some confusion over whether a symptom was XLH-related or not.

"Andrew, you’re so serious."

I've heard that phrase most of my life, from many different people. They seem to think I never have any fun, but I've had plenty of fun throughout my 38 years on this planet, and some amazing experiences. I've driven a single-seat race car on a race track, I've stood next to a Formula 1 race car as they fired up the massive V10 engine, and I've had a flying lesson in a helicopter.

And yet, I’m labeled a "serious" man.

I've come to realize that being serious is actually a different label for maturity. Growing up with XLH has left me with this perceived maturity. And I think this is something that is quite common with anyone diagnosed with a chronic medical condition, who has to go through life dealing with all the issues it throws at you. A child with a chronic illness really does have to grow up quickly. In my case, I underwent multiple surgeries, spent weeks at a time in hospitals and visited my endocrinologist as often as twelve times a year.

This level of maturity, at least in me, has had a knock-on effect on how I deal with the various traumas life sends my way, too. I've lost friends and family to illnesses, I've been hired and fired from jobs, I've dealt with the end of a relationship, and most recently, I've watched my much loved doggie pal’s health deteriorate until she finally passed on.

To look at me, you might think that I was uncaring about all these things. Nothing could be further from the truth. At funerals, I’m deeply cut up inside. When my dog passed, I cried in private. When my now ex-girlfriend ended our relationship, I bounced between feelings of anger, hurt and sadness for a while. But eventually my "maturity" kicked into high gear. My coping mechanism asserted itself, just as it always had during every physical trauma I've been through.

People have asked me how I manage to cope so well, and wonder why I’m not more visibly upset when something bad happens. I think my XLH has conditioned me to be this way. It really is no bad thing, because when someone I care about suffers a trauma, I can be the rock they need to lean on. As someone who has been leaning on other people his whole life, it's really nice to be able to return the favour!

Wednesday, July 16, 2014

Mid-year report

The first half of 2014 has kept Board members hopping. Our president, Becky Mock, has been traveling far (Chicago for the ICE/Endo conference in June), and near (her home state of North Carolina for ISPE-CaSA in April), and assorted places in between (mostly the D.C. area for Rare Disease Day in February and the World Orphan Drug Congress event in late April). She's spreading the word about XLH to medical practitioners, while also learning from other patient support groups for rare diseases.

The treasurer, Geoff Edelson, has been reviewing our expenses and writing checks. All of the travel doesn't come cheap, even though we do our best to get grants and scholarships or cut deals to reduce the costs, to stay within our tiny budget. He works hard to keep us on track.

Our vice-president, Bill Coogan, has been researching business/financial issues for us and lending a helping hand on assorted committees. He and Kathy Buchanan were instrumental in getting our somewhat dated By-Laws reviewed by a lawyer with special expertise in non-profit organizations, and then using the recommendations to make some much-needed changes. It's not exactly exciting stuff, unless you're a lawyer (and even then, I can attest, it's not that exciting), but it's got to be done, and it takes time, energy and money.

Joyce Inman is our faithful secretary, transcribing the meeting minutes and helping to establish policies and procedures for our growing organization. She's also been active on our fundraising committee (more information on that in the coming months), and you may recall that she's written an essay for this blog. (She also found time to answer the standard interview questions, which you'll be able to read in a couple weeks, to get a better idea of how amazing it is that she finds the time to volunteer on top of all her other commitments.)

Chris Younger and Oliver Gardiner are the Board members with the most advanced tech skills, so while they've been busy on the Network's behalf, a lot of it is invisible. They, along with our webmaster Jim Walker, make sure that the website is there when you tell your doctor about the medical citations listed there, and your doctor goes to look them up. Chris also makes sure that the new clinical trials and studies get listed at the website, and helps the Communications Committee to prioritize the million and one things we need to consider. Oliver's working on a Secret Project, which I'm really excited about, but we're not ready to unveil it quite yet, because we want it to be just right first. Trust me, though: it's going to be great, and it's required a lot of thought and skill on Oliver's part.

Oh, yeah, and then there's me, your Social Media Coordinator for the Board, Gin Jones. I've been busy writing blog and facebook posts to keep you updated, editing posts submitted by members about their experiences with XLH, and searching the internet for the latest news of interest to XLHers.

I'm going to save the Scientific Advisory Board's review for another post, or this will be too long. (But I have to mention the Growing Up With XLH video, which you can view here, courtesy of SAB chair Carolyn Macica, PhD., Quinnipiac University, and SAB member Thomas Carpenter, MD.)

The second half of 2014 looks to be just as busy. The Board is having a retreat to do some much-needed Strategic Planning in a few weeks (watch Facebook for pictures of our haggard selves as we work ourselves to the bone, and make sure to like our page so you'll keep getting our posts in  your timeline), and then there's the American Society for Bone Mineral Research (ASBMR) conference in September, the unveiling of Oliver's Secret Project, and possibly some other projects coming to fruition. We'll also be keeping an eye and ear out for the results of Ultragenyx's Burden of Illness study, and the pediatric KRN23 trials, so we can report back to our members as soon as information is available.

We know there's even more we could be doing. We're looking into more places where we can interact with doctors and dentists, and more ways to interact with XLH patients and their caretakers to get you the best and most up-to-date information. We have to be realistic too, keeping in mind our financial and human resource limitations, but we'd love to hear what else you think we should be working on. You can send me your suggestions: GinJones at

Wednesday, July 9, 2014

ISPE-CaSA report

Back in April, we posted a picture on our Facebook page of our Board members attending the ISPE-CaSA event in North Carolina, but we've been so busy that we haven't had a chance to tell you all about it.

ISPE-CaSA is the Carolina - South Atlantic chapter of the International Society for Pharmaceutical Engineering. They hold a technology conference every spring, and they designate a "featured charity" for the event. This year, the XLH Network, Inc., was that charity, and we received a donation of Five Thousand Dollars (plus another thousand dollars from a raffle).

Dr. Ali Skrinar from Ultragenyx was kind enough to attend the conference and share some of her knowledge of XLH with the attendees. Our president, Becky Mock, also attended the conference, along with Board members Oliver Gardiner and Geoff Edelson, and local XLH Network members, Rebecca Putnam and Sheila Hunter.

The current ISPE-CaSA newsletter has a picture of Becky receiving the large check, and there's also a picture of the XLH booth at the event. You can read the newsletter here. (Scroll down a bit; the report starts on page 10).

Wednesday, July 2, 2014

Happy summer!

Your intrepid blogger is on vacation this week, working in her garden and celebrating the American Independence Day.

The XLH Network hopes everyone is having a happy and healthy summer. We'll be back next week with more news and stories about living with XLH.

Wednesday, June 25, 2014

Latest KRN23 trial results

If you've been following us on Facebook (, you've seen our pictures from the ICE-ENDO conference this week.

The big news coming out of the conference, at least for XLH patients, is the announcement of the latest KRN23 clinical trial results. KRN23 is an antibody developed to counteract the excessive FGF23 that is at least part of the process of XLH patients' phosphate wasting. KRN23 is being developed in collaboration between two pharmaceutical companies, Kyowa Hakko Kirin and Ultragenyx.

The CEO of Ultragenyx, Emil Kakkis, M.D., PhD., is quoted by MarketWatch: "Based on observed improvements in phosphate metabolism, bone remodeling markers, and certain quality of life measures, we are encouraged by the potential for KRN23 to treat the underlying cause of bone disease in both adult and pediatric patients with XLH."

You can read more about the results here. As the news report indicates, pediatric clinical trials are starting now (find out more here), and additional adult clinical trials are in the works. Stay tuned, here and at Facebook, for updates on those trials.

Friday, June 20, 2014

Burden of illness study for XLH patients

Ultragenyx Pharmaceutical, Inc. is sponsoring a research study to better understand how XLH impacts the lives of affected children and adults. The study consists of an online survey that asks questions about your experience with XLH, including how it was diagnosed, what symptoms and complications you (or your child) have experienced, how the disease has been managed and how these events affect your daily life.  Anyone interested in participating can follow the link below to learn more about the study.

Burden of illness study

The XLH Network, Inc. does not endorse or critique specific research, and does not counsel individual patients either for or against participation in any specific research project. Prospective volunteers should always carefully review the project's informed consent documentation and protocol, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.

Wednesday, June 18, 2014

Meet webmaster Jim Walker

This week, our webmaster, who prefers technology to essay writing, shares a little about his experience with XLH and involvement with the Network. 

1. How did you get involved with the XLH Network, and then how did you become a member of the Board of Directors?

My mother became ill when I was nine, with frequent and severe headaches. In my early thirties, I started having the same symptoms I remembered her having. With a little research I discovered her diagnosis was something none of my doctors had heard of, called syringomyelia. I did a little digging around and learned it was not known to be genetic. I knew we both had vitamin D-resistant rickets (the name I knew then), so I decided to research that. While searching the web I found the "Vitamin D Metabolism and Rickets Web Site," as our site was called then. I subscribed to the F-HYPDRR mailing list, and two days later the subject of headaches came up. I was sure there was a connection between syringomyelia and XLH, eventually found it, in a type of Chiari malformation, and had surgery to correct it. If only the XLH Network had been around while my mother was sick, she to might have found some relief.

I became more active with the Network in 2005, when the previous web-master stepped down. I volunteered to help out and have been doing so since. My goal has been to ensure that anyone searching the web for information about their symptoms will be able to find us. I hope soon we'll have information about the cure.

2. What's your "super power" -- the special skill, knowledge or experience that you bring to the board?

I enjoy technology and keeping current with it. I have an active interest in everything involving the internet. Getting to understand and playing with new technology is how I spend the little free time I have.

3. What XLH project are you working on now that you're particularly enthusiastic about?

I'm excited to see all the new content posted to site and doing what I can to help accommodate that.

Friday, June 13, 2014

Pediatric clinical trial for KRN23

The pediatric (ages 5 to 12) clinical trial for KRN23 (the antibody developed to control FGF23, which is at least part of the root cause of XLH patient's phosphorus wasting) is about to start.

Details are at

Note that while the listing indicates "not yet recruiting," it is NOT too soon to contact the nearest of the locations participating in the study. This is a very limited study, with only thirty participants worldwide, so the slots will be filled quickly.

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 protocol, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members. The NIH website offers some good questions to consider while deciding whether to enroll in a clinical trial.

Wednesday, June 11, 2014

Getting things done

If you're following us on facebook (and I hope you are:, you probably saw a picture of Network president, Becky Mock, along with Board members Oliver Gardiner (who flew all the way over to North Carolina from London!) and Geoff Edelson (plus other member volunteers, Rebecca Putnam, Meredith Mock and Sheila Hunter) at the ISPE-CaSA conference.

The conference is an annual gathering of technical professionals in the pharmaceutical and medical device manufacturing industries. It was an opportunity to interact with a different group of medical professionals than we've previously met.

As Becky told me, they "had a great time, made new friends for the Network, received a five thousand dollar contribution from the organization and raised an additional thousand dollars in a raffle."

It was also an opportunity for board members to meet with representatives from Ultragenyx Pharmaceutical, including Dr. Ali Skrinar (senior director, clinical sciences) and Kim Mooney (Associate Director of Patient Advocacy).

Ultragenyx describes itself as "a clinical-stage biotechnology company committed to bringing to market novel products for the treatment of rare and ultra-rare diseases." Of particular interest to Network members, Ultragenyx is collaborating on the development and commercialization of KRN23 for treatment of XLH. Further information about KRN23 is expected to be released during an upcoming global conference for endocrinologists in Chicago on June 21-24. We'll have updates here as soon as we can.

In addition to the meetings and money (both of which are nice, of course), the ISPE-CaSA event also served as a deadline for completing some tasks that have long been on the Network's agenda. You may remember the video that SAB member, Carolyn Macica, was instrumental in putting together. We also updated our brochure, to include new research and other useful information. Finally, we had a banner made, so people could find us at the ISPE-CaSA event (and in future events where we have a booth).

Wednesday, June 4, 2014

Keep moving

Today, I --  Gin -- am here, speaking personally, as opposed to in my official role as the Social Media Coordinator. 

There's a lot of disagreement in the medical community about almost everything, but the one thing that most experts agree on is that keeping active, both physically and mentally, is good for us.

That can be a bit of a challenge for those of us with XLH, especially as we get older. Our joints can become arthritic and our ligaments and tendons can become calcified, so movement hurts. Pain causes us to stop moving, and then the reduced moving makes it harder to move without pain, which causes us to move even less. 

For the last couple decades, I've been turning to stone, with calcifications in assorted soft tissues, from the posterior longitudinal ligament (the rubbery thing that runs along your spine, keeping the vertebrae from flexing too far, while still allowing it to flex somewhat), to my Achilles tendon. I don't know if being more active while in my 30s and 40s might have prevented or slowed down the calcification, but there isn't anything I can do to reverse the calcification now. (Note to young members: Keep moving. It's important for everyone, but possibly more so for XLH patients.)

What I can do now is to keep the restrictions from getting any worse. Or at least try to. I can't exactly run a marathon or even walk much, but I can do little things. I can't move a lot or fast, but I can move more

Last summer, I committed to spending fifteen minutes a day in the vegetable garden. Every single day of the growing season. No excuses. At the end of the summer, I wasn't running marathons, and I still needed my cane for stability, but I did feel better. As far as I could tell, the calcifications weren't any worse, and I consider that a major victory!

This summer, I'm back to my fifteen-minutes-a-day commitment. I really do enjoy my time in the garden, but when the weather is hot and muggy, or my joints are particularly creaky and I'm irritable, it can be hard to make myself go out and weed. Knowing it's just a small commitment, that I can stop at the end of the fifteen minutes, helps get me out the door. And then, once I'm out there, I'm more likely than not to stay out for an hour or so. I don't move very fast, and I rely on my hoe so I don't have to bend too far or kneel, but I still get in a bit of exercise every day. 

I'm feeling better, and the garden looks more productive than ever. It's amazing what my fifteen minutes a day are adding up to. This year's garden has 400 onions, 200+ garlic heads, 36 pepper plants, a dozen tomato plants, and an assortment of beans, swiss chard, winter squash, summer squash, cucumbers, broccoli and herbs. I'm feeling better and eating better. 

Wednesday, May 28, 2014

21st Century Cures Initiative

“There are 7,000 known diseases. We have treatments for only 500 of them. We have work to do.”

That's according to Margaret Anderson, the executive director of  FasterCures (a center of the nonprofit Milken Institute), 

It's not clear whether XLH falls in the group of 500 with a treatment or the group of 6,500 without a treatment (we do have a treatment, but it's far from a cure), but either way, we all -- policymakers and scientists and patients -- have work to do to find something at least approximating a cure for XLH and other rare diseases, sooner rather than later. 

Government isn't the answer to everything, but it can lend a helping hand. The U.S. House of Representatives is working on a program known as the "21st Century Cures Initiative," which you can read more about here. For the next couple weeks, until June 13th, they're soliciting feedback, especially from patients, about "the state of biomedical research and therapeutic innovation for specific diseases and better understand how Congress can help move the ball forward." 

Some of the questions being asked by the Initiative are directed at patients, and address issues that XLH patients live with every day. The three that may be of particular interest to XLH patients are:

  • What is the state of discovery of cures and treatments for your disease? Are there cures and treatments now or on the horizon? 
  • How can Congress incentivize, coordinate, and accelerate basic research for diseases we know relatively little about? 
  • How can we work together to better translate advances in science into safe and effective new therapies for patients? 
  • What is the financial burden of your disease? How would better treatments and cures help save money for your family and the federal government? 

If you're a U.S. citizen and have any thoughts that you'd like to share about encouraging advances in basic science and finding 21st Century Cures, you can email your comments, by June 13th, to 

Wednesday, May 21, 2014

Meet Vice-President Bill Coogan

1. How did you get involved with the XLH Network, and then how did you become an officer of the organization? 

In February 2011, a round-table meeting was conducted at the Yale New Haven Hospital facility. Members of the Board of Directors were in attendance personally or via telephone. Besides Board members, people (members of XLH Network, family and friends of people with XLH ) who were interested in the direction the XLH Network, Inc. was headed in (and wanted to help in some way) were in attendance.

When the round-table meeting was adjourned the Board of Directors held an official Board meeting. At that official meeting I was asked by the President and Vice-President if I would consider filling the soon to be vacated position of Treasurer. My sister-in-law (who has XLH) who was on the Board turned to me and asked me to do it for her son and daughter (who also have XLH). It would have been totally unacceptable for me to say no since I was asked to do it for the sake of two people who are very dear to me. Since March 2011, I have been serving in Officer positions and being an Officer I am a member of the Board of Directors as well.

2. What's your "super power" -- the special skill, knowledge or experience that you bring to the board? 

I don't believe that I possess a super power. Since my full time employment had been as a cost accountant for many years (I am retired now), to a certain degree it seemed natural that I would fit in reasonably well as Treasurer. My subsequent years of service to the XLH Network, Inc. has exposed me to many activities on the Board and I now currently serve as Vice-President. My ardent desire is to see the XLH Network function as a valuable asset to all those afflicted with XLH.

3. What XLH project are you working on now that you're particularly enthusiastic about?

As Vice-President, I am enthusiastic about helping out in any way that I can with what needs to be done. New opportunities are opening up for us. These are exciting times and I want to assist in all of these opportunities. Each and every project that I work on, I am enthusiastic about because I know that every one of them will benefit our members in some way. That is what we are all about.

Wednesday, May 14, 2014

Article on clinical trials of KRN23

Last year, our Scientific Advisory Board member, Dr. Carpenter, won the "Most Outstanding Clinical Abstract Award" at the annual conference of the American Society of Bone and Mineral Research.

Now you can read the full article about the clinical trials of KRN23, by Dr. Carpenter and other outstanding researchers, as published in the Journal of Clinical Investigation. It's entitled, "Randomized Trials of the anti-FGF23 antibody KRN23 in X-Linked Hypophosphatemia," and is online here.

Wednesday, May 7, 2014

Follow up study of adult XLHers

If your XLH was treated at the St. Louis Shriners Hospital when you were a child, or you know anyone who was treated there, Dr. Whyte is looking for former patients, who are at least 21 years old now, to return to the facility for a research study.

The details, along with contact information, are available at our website, here. (If the link doesn't work for you, go to the XLH Network's website, and then, under the "What is XLH" tab, there's a link to "clinical trials," and if  you click on that, you'll see a listing for "Shriners Hospital for Children - A study to learn about XLH and HPP during adult life." There's a link under there to the PDF with the official information.)

The XLH Network, Inc. does not endorse or critique specific research studies, and does not counsel individual patients either for or against participation in any specific research study. Prospective volunteers should always carefully review the research study's informed consent documentation and protocol, and discuss the pros and cons of their participation with trusted advisers, including their health care providers and family members.

Wednesday, April 30, 2014

Dental Manifestations of XLH

Many XLH patients know what it's like to have a spontaneous abscess, when a tooth with no cavities or trauma suddenly becomes infected for no apparent reason. We know it's a common symptom of hypophosphatemia, sometimes happening during childhood and in other cases, waiting until early adulthood.

Some dentists and endodontists, however, may be skeptical about the cause of the abscesses, despite published reports confirming it. [One of the earliest case reports was "Hereditary Hypophosphatemia ... Presenting Primary Dental Manifestations" in Oral Surgery, Oral Medicine and Oral Pathology, volume 22, No. 2 (1966).] If your dentist/endodontist would like to learn more about the connection between your hypophosphatemia and your dental health, there are a number of resources you can refer them to.

For a quick overview, available for free download here, there's "A Clinician's Guide to X-linked hypophosphatemia," (by Scientific Advisory Board member Thomas O. Carpenter, MD, et al.) which briefly mentions dental issues. There's also an oral presentation by our Scientific Advisory Board member, Raghbir Kaur, DMD, in the XLH Day video here (beginning at the 20:30 mark).

If your dentist/endodontist is a member of the International & American Associations for Dental Research, with access to Sage Publications, there's a new article entitled "Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations," in the Journal of Dental Research. The abstract is available here. The article covers a number of rare bone diseases, including XLH, and highlights for each one the causative mutations, etiopathology, and treatments.

Wednesday, April 23, 2014

XLH symptoms ... or not

Today's guest post is by Network member, Andrew Shortall. He was diagnosed with XLH at age two, and has become a self-taught chef, wine businessperson and a writer, with aspirations to become a novelist. 

When living with a chronic illness like XLH, we’re often tempted to associate additional symptoms or conditions with our primary diagnosed complaint. Sometimes, though, it's the doctor who doesn’t fully understand XLH who tries to find a way to tie in the additional symptom.

Back in 2010, I was watching a TV show with a focus on men’s urinary and prostate health. It dealt with things like how to examine one’s own testicles for suspicious lumps, the symptoms of urinary problems and the indicators of a potential prostate complaint. About a month later, I started having occasional pain whilst going to the bathroom, and a week after that, I noticed some blood in my urine. Given this technological age we live in, I went online to the website for the show I had seen. My symptoms seemed to indicate a potential urinary infection or could also possibly indicate a problem with my prostate gland. Being only 34 at the time, I thought I was too young to have a prostate problem.

I checked a little further and found a reliable medical site that seemed bent on trying to convince me I had prostate cancer! Both information sources suggested that it was far more unusual for a man to have a urinary infection, which are more commonly seen among pregnant women. The online advice was that I should immediately increase my intake of water and see a doctor at my earliest chance. I couldn’t get to the doctor until the following Monday, and my symptoms progressed until I was nearly doubled over with pain in the one anatomical element that a man never wants to have pain in!

I made the mistake of going to a health insurance clinic, as my doctor had retired. When I finally got to see a consultant, I was poked, prodded, examined and questioned. He was convinced that my symptoms were linked to the XLH, and that I was potentially looking at the early stages of kidney disease. He seemed puzzled that I didn’t have pain other than when urinating and wondered if I didn’t have kidney stones. I’m no doctor, but I knew for a fact I didn’t. Next came more tests, blood work, urine test, and even an ultrasound of my kidneys.

Since I didn’t have insurance, I had to ask him to stop the testing and just write a prescription for the antibiotics, which cleared up the infection. Even so, my bill was a staggering €550 euro or about $700US. 

I learned quite a few things that day. First, you need to find a doctor well versed in XLH, or at least someone willing to research and listen. Second, online diagnosis tools can’t be your only source of information on medical conditions. Finally, and most importantly, I learned that my kidneys weren’t pregnant!

Wednesday, April 16, 2014

UK patient registry: RUDY

A number of institutions are ramping up their efforts to establish patient registries to facilitate research, and today we're highlighting one such effort in the U.K., with a particular interest in XLH patients.

The UK's National Institute for Health Research (NIHR) has a mission "to maintain a health research system in which the NHS [publicly funded healthcare system] supports outstanding individuals, working in world class facilities, conducting leading edge research focused on the needs of patients and the public."

The NIHR has commissioned a project, known as the Rare UK bone, joint and blood vessel Disease study (RUDY). It's led by a research team at the University of Oxford, and funded by a partnership between the NIHR Rare Diseases Translational Research Collaboration and the Oxford NIHR Musculoskeletal Biomedical Research Unit, University of Oxford. At present, the study is limited to UK patients, but they're hoping to develop European collaborations. UK residents will soon be able to visit to learn more or to sign up.

The project was intended to address three problems: rare disorders (like XLH) are under-researched; the information on these disorders, for both patients and doctors, is fragmented; and there is limited reliable data on treatment of these disorders to inform care providers. One of the biggest frustrations for XLH patients is that the symptoms and response to treatment are so variable that treatment involves a great deal of trial and error.

Initially, the project is focused on just six bone disorders, four vascular (blood vessel) disorders, and one other disorder. It may be expanded later to include other conditions. Within the XLH community, the researchers are hoping that the data will provide some clues about the predictors of enthesopathy (the calcification of tendons and ligaments that we're prone to), response to treatment in children, and predictors of non-union fractures. According to the initial documentation, they're looking to learn more about the mechanism of bone pain from patients with another condition that's being studied, fibrous dysplasia, but it wouldn't surprise us XLHers if they also found useful information on the topic from XLH patients.

The project doesn't offer treatment, but collects data on patients, symptoms and treatments. This information will then be available to researchers. For XLH patients, the data may include physical exams, blood and urine samples and bone density scans, as well as collection of past medical records, with lab results and treatment methods.

Obviously, any collection of data is going to raise questions of privacy. Sensitive data will be encrypted and anonymized before it reaches the researchers. Nevertheless, each prospective participant will be well-advised to think about the consequences of sharing information, to read the consent documents carefully, and to decide which pieces of information he or she is willing to share.  The project is set up to allow each participant to decide how much information to release, so it's not an all-or-nothing situation. It's not an easy decision, balancing the individual's privacy with the good for all similarly diagnosed patients that could come out of sharing the information. Obviously, the more data the group can collect, the better the conclusions will be with respect to best practices in patient care.

The project reflects a modern trend toward involving patients – and patient support groups – more directly in the research, helping to guide the research, not just providing the blood and urine samples. The project's leaders are seeking feedback from representatives of the patients in each of the studied group, and this openness to feedback is reflect in the study's motto: "Uniting patients and researchers to investigate rare diseases."

Consistent with that approach, XLH Network Director, Oliver Gardiner, is acting as a liaison between the study and XLH patients in the UK. During an informational session on the project, he met with other liaisons representing patients with Fibrosis Dysplasia,  Osteogenesis Imperfecta (Brittle Bone), Vasculitis  and Lupus. The Genetic Alliance UK was also present, but not representing a particular condition.

Oliver found it uplifting to see so much excitement around the discussion of XLH, and he gained useful insights into how other patient support groups operate. He'll be keeping us up to date on the progress of the study and any useful conclusions that come out of it.