Wednesday, November 29, 2017

Patient advocacy around the world

The weekend of November 4th, patient advocates for the XLH community gathered in Frankfurt, Germany. Two board members, Oliver Gardiner and Elizabeth Olear spoke at the meeting, sharing their personal experiences and those of the Network.

Elizabeth and Oliver interacted with representatives from France, Belgium, Spain and Denmark, along with employees of Ultragenyx and Kyowa Kirin International (the company bringing KRN23/burosumab to market in Europe). A consultant helped guide the interactions, and we hope to see the conversations come to fruition with some great collaborative projects in 2018.

You can see pictures from the event at our official facebook page here:

Tuesday, November 21, 2017

Sharing your passions

Kimberly Murray is a member of the Network who has XLH herself and a daughter with XLH. She recently participated in a couple of fundraising efforts, and she's here to tell you why and how she did it. 

October has always been my favorite month. For one, it's my birthday month. It is also a time Louisiana has some of its best weather. Not too hot, low humidity, and a light airy breeze making it just cool enough for a cute sweater/scarf combo. October is also special because it's the month when XLH Day is celebrated, so it seemed appropriate to donate all of my birthday money this year to The XLH Network, Inc.

I'd hoped that my husband, daughter and I would all be able to attend XLH Day this year, but sadly we just couldn't fit it into our schedule. So I decided to start my own social-media-based fundraiser for the Network instead. I have a lot of family and friends who follow my and my daughter's story on having and dealing with XLH, and they are always asking how they can help, what they can do. For one two-week period right around my birthday, I asked all of my friends and family if they could donate to my XLH fundraiser. I set a goal, an end date, and went public.

I was overwhelmed with the amount of love, support, and donations made to my fundraiser. I had exceeded my goal! Fundraising can be so much fun when you stay motivated and never lose sight of the finish line.

It also helps to get other involved. I had many close relatives and close friends help share my story. When you are able to share your passion with others, you are opening doors to educating them on the importance of awareness. And this awareness can be anything that holds significance and vitality in one's life. For myself and my family, it is the Network.

The amount of donations I received in a short two-week period has encouraged me to continue and increase my involvement in sharing and spreading awareness of XLH via social media, local spotlights, and of course fundraising. One of my next goals will be to encourage people to sign up as sustaining donors, who give a set amount every month or year, which helps the organization with its budgeting.

Next up is #GivingTuesday! I am proud to serve as a #GivingTuesday Ambassador (someone who will spread the word about a cause) for The XLH Network! You can find my #GivingTuesday peer-to-peer fundraising page (or start your own) here:

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: