Wednesday, November 15, 2017

FIghting the fundraising fears

Susan Faitos is an XLHer who has helped us with XLH Day in the past. She's here to talk about what it was like to do a peer-to-peer fundraiser for the Network. 

When The XLH Network, Inc. reached out for volunteers to participate in peer-to-peer fundraising this past summer, I was torn. It was important to me to support the Network, but I was very nervous about reaching out to people to ask for money. I was also uncomfortable with the idea of drawing attention to my medical issues. It brought back all kinds of childhood anxiety about the social stigma of being "different."

I decided to push through my fears and do it anyway. I created my fundraising page and sat at my computer staring at the send button for quite a while. Could I really do this? What would people think? Did I want this kind of attention?

I finally took a deep breath, sent the emails and posted it to Facebook, pretty much terrified of what the response would or wouldn't be.

For the next few days I was often brought to tears…in a good way. The response and the personal messages I received from current and childhood friends, long-lost cousins, colleagues, etc. was amazing. I've had donations from people from all walks and eras of my life, and the generosity has really astounded me. I had no idea so many people in my life could be so supportive and encouraging about my personal experiences and my fundraising goals.

As a result, I'm feeling a huge surge of gratitude and self-esteem. This was such a rewarding experience, and way beyond what I imagined when I first hit "send." This may have been a fundraiser for The XLH Network, Inc., but the benefit to me personally went further than any dollar amount ever could.

For more information on how you can help, perhaps by doing a peer-to-peer fundraising project like mine, check out the Network's #GivingTuesday page here:

Wednesday, November 8, 2017

Bowl-a-thon for the Network!

One of our members, Robert DeRemer, Jr., found a great, fun way to help the Network, and we asked him to share a bit about his inspiration and process. At our official Facebook page,, you can see a picture of Robert with Scientific Advisory Board Chair Carolyn Macica, who inspired him, and the Network's president, Bill Coogan. 

My name is Robert DeRemer, Jr. I am currently 51 years old. I was diagnosed with XLH when I was seven. A few years ago, it came to my attention that the Frank H. Netter School of Medicine at Quinnipiac University in North Haven CT was recruiting people with XLH to investigate their mobility, strength and flexibility, and to talk about how patients manage their lives.

I was lucky enough to be approved for the research study, where I met the principal investigator Carolyn Macica. The entire faculty and students from Quinnipiac were great to us during the tests. Right from the beginning, I could tell that Dr. Macica was very dedicated to the field of XLH. She strives to do the best to educate people about the rare disease as well as expand her own horizons through many research projects. She continues to be a source of support for me.

As XLH Day 2017 approached, Dr. Macica mentioned that help was needed to raise funds for the event. Since I'd just started to bowl (as a result of progress in my physical abilities after joining a clinical trial), I thought to myself: How about a Bowl-a-thon?

My plan then went into action! The bowling alley was very supportive and through friends I was able to find a DJ that would volunteer his services. I also secured raffle items from many local businesses for gift cards/certificates or baskets. We ended up with over 20 raffle items! The bowling alley also donated a portion of the proceeds from each game and shoe rental. In addition, I raised funds online so that those who didn’t live locally could also support the event. In the end, I was able to raise a thousand dollars for The XLH Network, Inc.

The money was donated to The XLH Network, Inc., during XLH Day, as my way of honoring Dr. Macica. I couldn’t think of a better person to honor with donating in her name. I would like to thank Dr. Macica for everything she does for those living with XLH. I would also like to thank the Network for all they do in support of patients and giving those living with XLH a voice.

What I learned from the fundraiser is that even with a disability such as XLH, we don’t have to sit back and watch the world pass us by. When I started, I had no idea how to go about hosting a fundraiser. I just went forward with a goal in mind of helping. I never dreamed that I could host an event that would raise a thousand dollars, but I did. If I can do something like this, you can too!

For more on how you can help, check out the Network's #GivingTuesday page:

Wednesday, November 1, 2017

Message from the President, Bill Coogan

It's not often that something life-changing happens to an entire global community, but that could be true for XLHers of all ages in 2018. Next year may see the approval, 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 reach everyone in both the patient population and the medical community and then to educate every last one of them about the realities of living with XLH, why treatment is necessary and what the treatment options are.

At the moment, there's a huge disconnect between what the 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 those conversations. 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.

For the health care providers side of the equation, we'll be attending more medical conferences than ever, including possible going to the meetings of the American Association of Nurse Practitioners and the American Academy of Clinical Endocrinologists; and holding a Patient-Focused Drug Development meeting (attended by a representative of the FDA) in conjunction with XLH Day 2018 (in the Baltimore/Washington area) to create materials (patient testimony and guided discussions that are videotaped and then transcribed for dissemination) about the adult symptoms of XLH.

For the patient side of the equation, we'll be creating and sharing some short videos by experts on various aspects of XLH and publishing age-appropriate materials to help children understand their XLH. Plus, as we've done for the past seven years, we'll be offering the community all the resources of XLH Day, with expert speakers and a chance to network with other XLHers and their families.

But first, we need to be sure we have the resources we need to carry out these initiatives at a critical time for the XLH community. In a few weeks, we'll be participating in #GivingTuesday (November 28th), and before then we'll share the details of how you can get involved, not just by sending money, but also by sharing our Tweets and Facebook posts in your social media circles.

You don't have to wait until then, of course! We aren't waiting to start the necessary work, after all. Donations can be made here any time:

Wednesday, October 25, 2017

Working with your doctor

We've all experienced it: the doctor who won't listen to the patient. It's not limited to rare disorders like XLH, but it becomes particularly challenging with conditions where there isn't a lot of scientific literature or even consensus, so you can say, "Look, you're wrong. It says so right here."

Sometimes the answer is to fire the doctor and find a new one, but that's not always an option. There may not be another specialist within a reasonable commute radius, or you may just be too beaten down from your health issues that you don't have the energy to fight the inter-personal battle.

So, what else can you do? Doctors aren't necessarily trained on how to talk to patients, so you may need to teach yourself how to talk to them, to increase the chance of them listening to  you. Global Genes has a webinar on the topic here:

You might also find their toolkit on a "care notebook" to be useful. Having dates and lab results and other facts right at your fingertips can make your communication effective. Download the tookit here:

In addition to the sections and materials recommended by Global Genes, consider writing down concise answers for some common questions so you can refer to them as needed and don't get caught tongue-tied when asked. Start with  a simple explanation for what XLH is (e.g., a genetic, metabolic, phosphate-wasting disorder that affects bone, teeth and muscle), which is particularly useful when you're seeing a doctor for reasons other than your XLH treatment, like a routine physical. A list of  your main XLH-related symptoms (e.g., bone pain, arthritis due to misaligned joints, calcifications, spinal issues, fatigue) can be useful whether you're seeing a specialist or your primary care provider. When you have a lot of issues, it helps the doctor to know which ones are the biggest problems for you. And finally, for a specific appointment, try to identify ahead of time the one particular symptom you're looking to improve (e.g., pain management, reduction in fatigue, increased mobility, improved range of motion), rather than presenting with a whole litany of problems, which can be almost as overwhelming for the doctor as it is for you!

To get your notebook started, consider downloading a copy of each of the Network's brochures to include for easy reference. You can find the main brochure here:
and the dental ones here:

There's also a wealth of information at the forum that you can print for your notebook, including research citations you may wish to share with your doctor (or study yourself before talking to your doctor). You can find them in this thread (after you log in):

Thursday, October 19, 2017

Survey ranking symptoms

As part of our preparations for meeting with the U.S. Food and Drug Administration as part of its review of KRN23/burosumab, we've created an extremely brief survey about the most well-known symptoms of XLH.

The survey is just four questions and takes less than a minute. It will only be open for one week, until midnight on October 26, so don't miss out on this opportunity for your voice to be heard.

You'll find the survey here:

Tuesday, October 17, 2017

The next generation

During XLH Day, our Scientific Advisory Board offered special recognition to a high school student, Lindsay Peifer, for her dedication to science.

Lindsay's XLH was confirmed by DNA testing and is spontaneous, which, she says, is "pretty obvious because I'm a full foot shorter than the rest of my family."

Like many other XLH patients, she grew up with many hospital visits to see specialists and had corrective surgeries, but unlike many others, she became fascinated with biology and the health sciences, especially genetics. In high school, she worked with the Network's Scientific Advisory Board chair, Carolyn Macica PhD, and John Sterpka to find her specific gene mutation by extracting my DNA from her cheek cells and preparing it for sequencing. She then presented her project at her school’s symposium and was interviewed by a local news station. She plans to study pre-medicine and genetics, cell biology, and development at the University of Minnesota, Twin-Cities, so she can help other people with rare diseases in the future.

During XLH Day, she did a presentation that addressed how she became interested in science in the course of trying to understand her own health, and then laying out what she'd learned in the course of her school project.

Thursday, October 12, 2017

What should the FDA know about XLH?

The XLH Network, Inc. will be meeting with the U.S. Food  & Drug Administration on  December 4, 2017 [previously set for January 2018], to make sure that the patients' (and their families') voices are heard as the FDA considers the safety and efficacy of KRN23/burosumab and whether to approve it for treatment of both children and adults.

As we're planning our presentation, we want to do our best to cover the entire spectrum of what it means to live with XLH. As we all know, XLH affects so many systems of the body, and there's a wide variation in symptoms and severity. We know what we ourselves have experienced (or what our family members have experienced), what we've read on our listserv, forum or Facebook page, and what we gathered from XLH Day attendees this year.

But we still don't have the full story. We don't have your story.

What would you tell the FDA  if you had just two minutes to give them your message?

If  you don't know where to start, here are some things to think about: Perhaps you'd want them to know about your biggest XLH-related challenge in your career or personal life. Or maybe there's one particular XLH symptom that, if treated, would improve your life dramatically. How would your life be different if you didn't have that particular symptom, even if you still experienced other symptoms? Is there something you've always wanted to do, but felt you couldn't because of your XLH? Or, for those of you who have XLH and also a child with XLH, is there one thing in particular that you wish your child wouldn't have to experience the way you did?

Send your message no later than November 1, 2017 to  Our time with the FDA is going to be brief, so we need to ask you to keep your message concise, no more than one hundred words (that's about half of a double-spaced page) and focused on the one XLH-related challenge for which you would particularly like a medical solution.

Thank you for helping us tell our community's story. Together we can make a difference and help the FDA understand the need for this new treatment, as well as for additional research.