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:
https://globalgenes.org/rare-webinar-communicate-with-healthcare/

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: https://globalgenes.org/toolkits/building-a-care-notebook/carenotebook/

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: http://xlhnetwork.org/about-us/xlh-network-brochure/
and the dental ones here: http://xlhnetwork.org/what-is-xlh/dental-flyers/

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): http://vps.xlhnetwork.org/~xlhforum/forum/index.php?board=32.0

What we've been up to

Much of the time, we're focused on the future -- what we've got planned, what we anticipate will affect the community going forward, and preparing you for the challenges we're all facing as we work to improve the lives of XLHers and their families.

This week, though, even as we're busy putting the final touches on XLH Day, we'd like to take a moment to review what we've accomplished so far this year:

The Natural History Study's initial beta version is complete and IRB-approved, while the more extensive, Phase II disease-specific questions have been compiled and reviewed by experts in the medical community. By the time the study is complete in ten years, we expect that there will be questions (and answers!) for as many as a dozen categories of symptoms/treatment. You can imagine the work it took to come up with comprehensive questions that were approved by the experts as using the correct terminology, while also being comprehensible to non-scientists like us. We are also working on forging collaborations that will allow the study to be even more user-friendly and comprehensive for our patient community.

Our book, Weak Bones, Strong Wills, the Stories of XLH, which was two years in the writing/editing/publishing (and more like five years in the planning), is ready for release on October 6th. As far as we can tell, it's the first and only widely published book of rare-disease patients' experiences written by the patients themselves, rather than filtered through the words of health care providers. We'll have links soon so you can get your own copy or send them to friends/family.

XLH Day this year has the most ambitious schedule ever, building on the experience we've gained during previous events.

Two board members and the Executive Director attended the annual conference of the American Society for Bone and Mineral Research (ASBMR) in Denver Colorado earlier this month, interacting with the people who have the expertise necessary to find a true cure (as opposed to the intermediate solution of an effective but ongoing treatment) for XLH (and the related phosphate-wasting disorders like Tumor Induced Osteomalacia).

We published a new and updated (to include information on FGF23) dental flyer for medical professionals. You can download it here to share with your dentist or oral surgeon: http://xlhnetwork.org/files/2015/0362/1533/DentalProBrochure_082417.pdf

We'be been keeping a close eye on the governmental review of KRN23/burosumab as the clinical trials are ending, data is being released and applications are filed with the European Medicines Agency and the U.S. Food & Drug Administration. If you missed any of this information, you can find the collected press releases at our forum here: http://vps.xlhnetwork.org/~xlhforum/forum/index.php?topic=228.msg357#msg357

That work was all in addition to the routine (but oh so necessary) work of maintaining our website, keeping the forum and social media filled with useful information for you, and making sure we have the funds we need to keep going, not just for the next few months but for the long term.

As if that weren't enough, we've spent countless hours on several major projects that aren't quite ready to be shared. Often, ideas that are generated during strategic planning, board meetings or conferences can take months or even years to come to fruition. We expect at least a couple of them to be revealed during XLH Day weekend, so stay tuned!

We're working hard, and there's never enough time or money to do everything we want to do. Still, we'd love to hear from you about additional projects you think we should be working on. And if you'd like to help, either financially or with your time, you can donate here. Or contact our Executive Director, Carol LaFleur, about other ways you can help, ExecutiveDirector@XLHNetwork.org .

Representing the XLH community

Even as we're recovering from an amazing XLH Day in Houston, Texas (more on that next week), we're gearing up to represent the XLH community at other events this fall.

First up is the American Society for Bone and Mineral Research (ASBMR) annual conference in September, to be held this year in Atlanta. You can read about it here: http://www.asbmr.org/annual-meeting

We are part of the Rare Bone Disease Patient Network, which will have a booth at the conference, and is involved in a workshop that will include brief talks on a number of rare bone diseases. The section on XLH will be presented by the Network's Scientific Advisory Board member, Suzanne Jan deBeur.

Karl Insogna, MD, will be one of several doctors talking about "How Discoveries Lead to Treatment of Rare Bone Disease Treatment." His presentation will be focused specifically on XLH in adults.

In addition, several members of our Scientific Advisory Board will also be there for posters and/or presentations, and we'll report back on the details after the event.

Rare Disease Week Recap

Representatives of the XLH Network were busy in Washington, D.C. during Rare Disease Week.

President Bill Coogan and past president Becky Mock attended events at the NIH and displayed our literature there along with posters reflecting data from Ultragenyx's Burden of Illness study. You can get a taste of the proceedings by by viewing the speeches from the NIH, including comments by members of the U.S. Congress's Rare Disease Caucus and directors of government agencies dealing with medical issues.

Bill and Becky also attended events sponsored by the Rare Disease Legislative Advocates (a program of the EveryLife Foundation, a nonprofit dedicated to accelerating biotch innovation for rare disease treatments through science-driven public policy), and met with legislators to discuss the needs of the rare disease community. We'll have more later on some pending legislation of interest to members of the rare disease community.

You can see pictures from the event at our official Facebook page.

21st Century Cures Initiative

The U.S. House of Representatives' Energy and Commerce Committee recently unanimously approved the 21st Century Cures Initiative, a bipartisan effort "to modernize and personalize health care, encourage greater innovation, support research, and streamline the system to deliver better, faster cures to more patients." You can read the press release here: http://energycommerce.house.gov/press-release/21st-century-cures-act-unanimously-approved

This is just one step -- an important one, though -- before this legislation can be enacted. Rare disease advocacy groups have been active in supporting it. You can read the official letters from Global Genes here: http://globalgenes.org/wp-content/uploads/2015/05/20150423CuresSupportLetter.pdf
and here: http://globalgenes.org/wp-content/uploads/2015/05/Please-Permanently-Reauthorize-the-Rare-Pediatric-Disease-PRV-Program-House.pdf

NORD (National Organization for Rare Disorders) issued a statement on the committee's vote, which you can read here: http://campaigns.rarediseases.us/t/ViewEmail/r/C47E8D149A5BBA7A2540EF23F30FEDED/2CF5BAF93C87CAE373767151F2435ACA

NORD has also sent a letter to the leadership of Congress, expressing its support of the Initiative. The XLH Network, along with over two hundred other similar organizations for other medical conditions, have co-signed the letter.

Stay tuned for more information as the bill continues through Congress.

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.

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).

Getting things done

If you're following us on facebook (and I hope you are: https://www.facebook.com/xlhnetwork), 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).

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 cures@mail.house.gov 

Support for science funding

We can't all go to D.C. (or other governmental centers) and meet with our legislators, the way Becky and I did a few weeks back, but we can all make our voices heard.

Congress is working now, through the end of the month, on the next year's budget for various agencies, including the National Institutes of Health and the National Science Foundation. These agencies are responsible for funding a great deal of basic science research, the sort of work that won't get done unless the government funds it.

You probably know that this sort of research has been hampered by governmental cutbacks since the recession, and also that XLH research, in particular, was on a promising path since the discovery of FGF23 shortly before the recession, but research had slowed due to NIH/NSF funding cuts, and there's a great deal more to learn about FGF23 and XLH.

I wouldn't know what to ask for when it comes to funding research, but fortunately there's FASEB (Federation of American Societies for Experimental Biology), which is a coalition of biomedical researchers and scientific societies, "recognized as the policy voice of biological and biomedical researchers," and they do know what to recommend. They're recommending a number that, while huge for individuals or even mega-corporations, is actually quite modest in the context of the federal government budget. Their recommendation is $32 billion for NIH and $7.6 billion for NSF, which would restore the funding that was cut from prior years' budgets and get us back on the path to sustained scientific research.

You don't need to remember all that, or even figure out who to call or write to. The ASBMR (American Society of Bone and Mineral Research) has made it easy for U.S. citizens to send a form letter (or edit it as you wish) by going here . All you have to do is fill in your name and contact information, and then hit Send. If you have friends and family who are concerned about adequate government funding for basic science research, feel free to pass along the link, so they can contact their legislators too.

Just remember: now's the time to act, if you want your legislator to meet the end-of-month deadline for supporting science research.

A Different Kind of Advocacy

The last couple weeks, we've been focused on advocacy at the macro level, working with researchers and politicians. There's another kind of advocacy at the more micro level that we need to do. Rachael Jones (no relation to Gin Jones), herself an XLH patient, and the parent of a XLHer, is our guest blogger today, sharing her thoughts on advocating for the best interests of a child with XLH.

Our two-year-old son was diagnosed with XLH when he was a year old. We started having him tested when he was three months old, thinking that the diagnosis would come quickly, given the family history. It still took several months to determine for sure that he has XLH. 

While getting the diagnosis, and since then, with treatment, we have had to be our son's health care advocate. At times, it's been quite challenging, but we understand that nobody else is going to advocate for our son, so we must. We have had to travel a lot and reach out to XLH experts in order to determine if the course of treatment that our son is on is the best for him. We live in a small town, but we are willing to travel as far as we need to in order to find someone who either has knowledge of XLH (which is rare) or who is willing to learn. 

We've found that being responsible parents can be quite stressful. There were times when our son was younger that the medical professionals had difficulty finding his veins and had to poke him several times before they could find a vein. It was heartbreaking to see our son cry and hold his arms out to us to pick him up and take him away from the pain, but we knew we needed to get these blood tests done. My husband and I are learning that being parents, and especially parents of a child with XLH, means that sometimes we have to do the hard things in order to do what is in the best interest of our child.  

We still have his blood drawn every three months to make sure his levels are within an acceptable range, but it has become easier. I think he has to be one of the bravest two-year-old boys. Now when we walk into the lab he asks if he is going to get an “owie,” but he doesn't cry. Afterwards, he goes around showing everyone his colorful band-aid.

In advocating for our son, we searched online and found the XLH Network. I was born with XLH (as were my mother and brother), but had never found good information. I also connected with others with XLH through the list-serve and even attended the XLH Day in September. It is nice to know that my husband and I are not alone in this journey. We feel a sense of community and support from the XLH Network as we try to advocate for the best treatment for our son. 

Advocacy with ASBMR

It's easy to think of politicians as ignorant or foolish or self-aggrandizing, and I'm about as cynical as anyone, so I was pleasantly surprised by the experience of visiting Capitol Hill to advocate for sustained funding for basic science research at National Institutes of Health. I went to the offices of Elizabeth Warren, Ed Markey and Joseph Kennedy. Their staff members (including some with medical training) were all well-informed and passionate about both their legislative work in general and supporting the NIH in particular.

The meetings were organized by the American Society for Bone and Mineral Research. Network President Becky Mock and I were assigned to different teams to go to the offices of Senators/Representatives from our state (or nearby). My team consisted of Roland Baron, DDS (Harvard School of Dental Medicine), Beate Lanske, PhD (also with the Harvard School of Dental Medicine), and Lisa Samelson, PhD (Harvard Medical School, Institute for Aging Research).

Dr. Baron, who is in the middle of what is already a distinguished career, was particularly concerned about the lack of financial stability for younger researchers starting their careers today, and worried that this instability would deter the best and brightest students from pursuing a career in scientific research. Dr. Lanske echoed this concern, and focused on the real-world consequences to patients like me if there's a suspension of research. Dr. Samelson kicked off each of our presentations with facts and figures about the costs of NOT funding research into bone metabolism (e.g., not developing better methods of preventing and treating osteoporosis), especially with the elderly population growing rapidly.

The legislative offices I attended were all very supportive of NIH funding, and sympathetic to our requests. Even so, we were able to point out some features of medical research and living with a rare disease that they found noteworthy, and that they might be able to use to persuade less sympathetic colleagues.

One of the things that appeared to strike a chord with the staff members, and that they will likely remember, came out of the fortuitous pairing of Dr. Lanske with me, as an XLH patient. We formed a sort of tag team, demonstrating both the technical and the personal sides of research. Dr. Lanske has been studying the hormone that goes haywire in us, FGF23, almost since the hormone was first discovered (about a dozen years ago), but she's been working with mice, and had never met a human with XLH  before this event. You can imagine how thrilled she was to meet not just one, but two of us!

The legislative staffs weren't the only ones who got an education during this event. I didn't know just how much research is happening in the bone metabolism field, or the struggles that young investigators are experiencing. I'd also never thought much about patient registries, but Dr. Samelson (an epidemiologist whose first thoughts always involve data collection) has me thinking about the subject in the context of the XLH Network.

In summary, I'm not being cynical, just realistic, to acknowledge that no single meeting is going to change the future of medical research. Still, I believe it's important for the XLH Network, along with other patient support groups, to keep reminding the budget-makers of the absolute necessity to support basic medical research, the type of research that simply won't get done if government doesn't support it.

Our president, Becky Mock, is particularly committed to doing this kind of advocacy on our behalf (and is a brilliant networker). She's looking into expanding our advocacy work at both the national and local levels. I'm sure she'd love to hear from you if you'd like to become involved too, or if you know of any opportunities for our voice to be heard.

Rare Disease Week

The last day of February each year is World Rare Disease Day. This year, it falls on February 28th.

Here in the U.S., several medical-professional and patient-support groups have gotten together to make the entire week into a time of awareness and advocacy for rare diseases. Today, representatives from the American Society for Bone and Mineral Research are meeting with legislators in D.C. as part of this awareness and advocacy work.

Two of the Network's scientific advisers, Suzanne Jan de Beur, M.D., and Michael Econs, M.D., will be attending some of the events, and so will Network President Becky Mock and Director Gin Jones.

Check back next week for an update on the experience.

President's Review of 2013

Network President, Becky Mock, is here to remind us of last year's accomplishments: 

The fall of 2013 was a particularly exciting and busy season for the XLH Network, Inc.

In mid-September, we teamed up with seven other rare bone disease groups to form the Rare Bone Disease Advocacy Alliance to meet with members of Congress to discuss the challenges of life with a rare bone disease and to advocate for greater public awareness and increased federal funding for research. I met with some of the North Carolina caucus, including Representatives David Price and Robert Pittenger, and the Legislative Assistant from Senator Kay Hagan's office.

The following weekend was XLH Day, held at Quinnipiac University in North Haven, Connecticut. People traveled from all over North America, as far as Texas, California and Canada, to meet fellow XLHers and hear from medical providers with substantial experience treating XLH patients. If you weren't able to be there in person, you can still benefit from the lectures, which were videotaped and are available at http://www.youtube.com/watch?v=IIAtcMGaUVU and http://www.youtube.com/watch?v=ay8LdZspmco

Finally, in October, the majority of the Board was able to gather at the annual meeting of the American Society for Bone and Mineral Research in Baltimore, Maryland to network and discuss XLH with the leading experts in bone disease.. You may have already seen the news, that a member of our Scientific Advisory Board, Thomas Carpenter, M.D., won the 2013 Most Outstanding Clinical Abstract Award at this event.

We're working hard to make this year even more productive. I'll be back in a few weeks to share our plans for 2014.