Wednesday, May 24, 2017

Calcified tissue issues

XLHers frequently experience calcified soft tissue, either in the kidneys (generally believed to be a side-effect of treatment) or in tendons and ligaments (the exact cause of which is unclear at present).

One such condition is OPLL or Ossification of the Posterior Longitudinal Ligament (the ligament that runs down the outside of the spine). These calcifications can occur in a variety of other places too, generally wherever tendons or ligaments attach to the bone. These calcifications are known as entheses and the condition is known as enthesopathy.

A recent journal article discusses whether the current treatment regimen (phosphorus and calcitriol supplements) reduces these calcifications, and unfortunately concluded that it does not. You can read it here:
https://www.ncbi.nlm.nih.gov/pubmed/26176801
And there's a related commentary here:
https://www.ncbi.nlm.nih.gov/pubmed/26439151

XLHers aren't the only ones who experience calcified tissues. There's a whole medical journal dedicated to them: Calcified Tissue, International (http://link.springer.com/journal/223).

You might think "calcified tissue" is a micro-specialty, but there's actually a European Calcified Tissue Society, which meets with the International Bone and Mineral Society every year in Europe (http://ects2017.org/), and there's also an Israel Society on Calcified Tissue Research (http://www.iofbonehealth.org/iof-national-societies/1140).




Wednesday, May 17, 2017

XLH Day fundraiser

The Network has been hard at work looking for ways to expand XLH Day, educate the community about XLH and introduce new fundraising initiatives that will help expand our services! We are happy to announce that we will be adding a community walk/run to take place at the end of XLH Day weekend.  

We are excited to bring this event to Connecticut, and know it will be a great way to educate about XLH! We hope you will join our efforts and participate, either in person or as a virtual team member from the comfort of your own home. Check it out here: 
https://xlhnetwork.networkforgood.com/projects/29363-1st-annual-walk-run-for-xlh


Wednesday, May 10, 2017

A clinician who goes the extra mile

Too often, XLHers experience less than ideal treatment by clinicians who aren't familiar with XLH. But what about the good ones? We know they're out there, and we're looking to recognize the work of a clinician (doctor or nurse-practitioner) who goes the extra mile for XLH patients. Someone who makes sure to keep up to date on the latest information on XLH, despite its rarity. Someone who demonstrates that the patient is a complicated, real person, not just the embodiment of an electronic file.

Do you know a clinician like that? Someone who treats you (or a family member's or friend's) XLH (or the autosomal versions of hypophosphatemia)? You can nominate him/her for a prize to be announced at XLH Day by answering a few brief questions about the clinician here: http://vps.xlhnetwork.org/~xlhforum/forum/index.php?topic=302.0
(Note that you'll need to log in to the platform if you have an account already or create a free account. If you're already registered and you've forgotten your password, follow the "forgot password" link to reset it.)

Please note that while we appreciate and respect the clinicians working in research settings, this particular project is intended to recognize someone who doesn't have the advantages of working in a major research institution (so that excludes the doctors at the various clinical trial sites for KRN23/burosumab).

Don't delay! The nominations will close at midnight on June 18.

Friday, May 5, 2017

Additional results from KRN23/burosumab studies

The latest press release from Ultragenyx Pharmaceutical, primarily addressed to investors, includes some new data on the healing of fractures in the adult XLHers in the Phase 3 clinical trial of KRN23/burosumab:

"At study entry, 52% of patients (comprising 48% of patients randomized to burosumab and 56% of patients randomized to placebo) presented with either active fractures (12%) or pseudofractures (47%) or both. At week 24, 37% of active fractures or pseudofractures in patients treated with burosumab were completely healed compared to 10% on placebo. Additionally, at week 24, 3% of existing active fractures or pseudofractures treated with burosumab worsened compared to 11% on placebo." 

It's worth noting that the study, in addition to showing apparent benefits for healing, also documents just how widespread the occurrence of fractures and pseudofractures is within the adult XLH community, with roughly half of the study participants having a fracture or pseudofracture! 

You can read the entire press release here:
http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=1024922

Wednesday, May 3, 2017

Collateral Damage

This week, we've got a commentary from the parent of a spontaneous XLHer, who's dealing with chronic pain against the backdrop of negative press about opiates. Here's what the parent had to say:

Did you know that when it comes to pain treatment some professionals do not recognize XLH as a disease that can cause chronic pain? Our family has discovered this first-hand in our XLH treatment journey. A number of well-meaning professionals, friends, and acquaintances have made suggestions for how my XLH child might find some relief (anti-inflammatories, bee-venom studies, Epsom salt baths—we have tried them all). Steroids worked great for a while, but when her kidneys started to shut down, new treatment had to be considered. Unfortunately, only opioids worked well enough for her to work and live with a certain amount of independence and pay for insurance that doesn’t cover any of the costs of this medical problem. The world of opiates, however, has been a tough world to navigate—a world made even tougher by the rarity of XLH.  

Recently, a pharmacist refused to refill an opioid prescription because he didn't “think the level of pain medicines prescribed were necessary.” This prescription was put on hold, not filled, and it could not be transferred to another pharmacy. We have begun to feel like we are collateral damage in our society’s misguided but well-intentioned attempts to fight a war on prescription drug use.

My child is not collateral damage; and no one’s should be. In an attempt to advocate for my daughter and others with severe pain related to XLH, I have researched various foundations dedicated to raising awareness for pain management. I am volunteering with The XLH Network, Inc. to make this problem more well known, and we are hoping to recruit a pain management specialist to the SAB and to create partnerships with other organizations that might benefit members in similar situations. There are no magic solutions to easing my daughter’s pain, but I am dedicated to making sure that those of us in this community who struggle with chronic pain have some pathways to answers.

It has been a long and lonely road so far, so I hope others know that we do not have to travel it alone.

For more information on chronic pain, see the NIH (https://nccih.nih.gov/health/pain/chronic.htm).

For more information on advocacy for patients with chronic pain, see the U.S. Pain Foundation (www.uspainfoundation.org).

Wednesday, April 26, 2017

Ultragenyx Patient Day

The Ultragenyx Patient Day was held this past weekend at the company's Novato location.  Rare disease patients from across the country gathered for a day of networking, family activities and the chance to connect and share with others. Fifty-five XLH families were in attendance and had an opportunity for a meet and greet with board members and our new executive director, Carol LaFleur.

President Bill Coogan reports that the food was plentiful, with Thai, Italian and Mexican food trucks, along with ice cream and gelato trucks and an additional buffet set-up. The featured band, always a last-minute surprise, was Smash Mouth. There were other activities for people of all ages and abilities, with approximately a thousand people in attendance, including patients, family members and employees of Ultragenyx Pharmaceutical and Audentes Therapeutics (gene therapy company). 

On behalf of the XLH community, the Network is grateful to Ultragenyx, Audentes and the people who worked so hard to make Patient Day a memorable experience. 

You can see pictures at our official Facebook page, https://www.facebook.com/xlhnetwork/

Wednesday, April 19, 2017

Use of MRI in monitoring rickets

Back in the 1950s, when it wasn't known that X-rays could be harmful (and the machines emitted much more radiation than they do today), it wasn't unusual for XLHers to have full-body, head-to-toe sets of X-rays done at regular intervals.

Fortunately, today they're done more cautiously, using less radiation, so the benefits generally outweigh the risks. Still, there is some risk from X-ray exposure, which may be of particular concern for children. A recent journal article reminded doctors of this fact. You can read the abstract of "Children, medical radiation and the environment: an important dialogue" from the April 2017 issue of Environmental Research here: https://www.ncbi.nlm.nih.gov/pubmed/28391175

Researchers are looking into the possibility of using Magnetic Resonance Imaging, which do not use radiation, instead of X-rays. Doctors already knew what rickets looked like in an X-ray, but not what it looks like in an MRI.

According to a recent journal article, researchers appear to have figured out a way to identify rickets in an MRI. In an article published in April in Hormone Research in Pediatrics, researchers concluded, "MRI of the knee provides precise rickets patterns that are correlated with ALP, an established biochemical marker of the disease, avoiding X-ray exposure and providing surrogate quantitative markers of disease activity." You can read the abstract here: https://www.ncbi.nlm.nih.gov/pubmed/28376474

Wednesday, April 12, 2017

Getting your medical records

If you're going to see a new doctor, or perhaps you have a child who's transitioning from a pediatric endocrinologist to an adult endocrinologist, then you'll want to have your (or the child's) medical records. Even if you were diligent about getting copies of everything as you went along, chances are it's an inconvenient mess of paperwork. And, if you're like most people, at least a few pages are missing, despite your best intentions.

What if you could get all that information as a single electronic download?

You may be able to in the United States.

There's a federal program called "Blue Button" that has a logo that -- you guessed it -- is a blue button. It signifies that you can download your medical information (not including images like x-rays, unfortunately, and sometimes not including the doctor's notes from an appointment) by clicking on that button.

You may find the button on your health care provider's main website, but if not, you can look it up at http://bluebuttonconnector.healthit.gov/ If your provider is listed at that site, it will give you a link to instructions for how to download your documents.

In some cases, you will need to create an account with your health care provider if you don't already have one. In some cases, it may take a few days for your new account to be approved, so don't wait until the last minute before you need the records. Sometimes, they send the activation code by snail mail, which can take several days, as opposed to the almost instantaneous responses we've grown used to online.

Once your account is approved, you can log in and then access a variety of types of information, including the medications you're currently taking (or took in the past), your recorded allergies, treatment information (e.g., diagnoses and sometimes summaries of the visit) and lab test results. The downloads can then be printed, saved to a flash drive or forwarded to your health care provider electronically.

There's even a blue button for Medicare patients, which you can access here: https://www.medicare.gov/manage-your-health/blue-button/medicare-blue-button.html


Wednesday, April 5, 2017

Disability resources

The severity of symptoms experienced by XLHers varies greatly from patient to patient. Some are active into their old age, but others have mobility challenges beginning generally somewhere between early- and mid-adulthood.

Depending on the person's choice of career, those challenges can affect the ability to work. For those XLHers, it may be worth consulting an attorney who has experience with representing patients before the Social Security Administration (in the U.S., or the relevant governmental entity elsewhere). You're not likely to find one who has ever heard of XLH, but look for someone who has experience with presenting fairly complicated medical cases, possibly including other rare diseases.

If you prefer to get an overview of the process before you consult an attorney, there's a good book on the subject, written by lawyers but intended for a non-lawyer audience. It's available for purchase, but you might be able to find it in your library (or ask for it through their inter-library loans): http://www.nolo.com/products/nolos-guide-to-social-security-disability-qss.html

Alternatively, the Social Security website has a LOT of information, much of it intended to be used and understood by non-lawyers. The main page for disability benefits is here: http://www.socialsecurity.gov/pgm/disability.htm

There's also a comprehensive set of Frequently Asked Questions and answers: https://faq.ssa.gov/link/portal/34011/34019/ArticleFolder/273/Disability

The Social Security Administration also has a resource called the Blue Book, which lists conditions it may consider in determining disability, and which can be found at their website The explanation is, in essence, that if an applicant has one of these conditions and isn't working, then it's pretty much assumed that the person is disabled.

XLH isn't one of the specific conditions that leads to a semi-automatic finding of disability, but that just means that the applicant needs to provide more proof of disability. Here's how they explain it:
[T]he presence of an impairment that meets the criteria in the Listing of Impairments (or that is of equal severity) is usually sufficient to establish that an individual who is not working is disabled. However, the absence of a listing-level impairment does not mean the individual is not disabled. Rather, it merely requires the adjudicator to move on to the next step of the process and apply other rules in order to resolve the issue of disability.
The Blue Book is broken into sections based on biological systems, like endocrine and bones. Since XLH can affect the whole body, it may be difficult to pinpoint symptoms to a specific section of the Blue Book. For instance, there's a mention of parathyroid abnormalities (in the endocrine section of the Blue Book), but it doesn't list anything about low phosphorus, just osteoporosis, cataracts, kidney problems and excitable nerves. http://www.ssa.gov/disability/professionals/bluebook/9.00-Endocrine-Adult.htm

A lot of XLH issues fall under the musculoskeletal section, but there's no specific mention of osteomalacia (the adult version of rickets): http://www.ssa.gov/disability/professionals/bluebook/9.00-Endocrine-Adult.htm

There's also a section on "congenital disorders that affect multiple body systems," which would seem to apply to XLH, but it's not mentioned by name there.

NOTE: This posting is not intended as legal advice. You should consult with a qualified legal professional in your jurisdiction if you have questions about filing for disability.

Wednesday, March 29, 2017

Survey on Rare Disease Support Needs

Researchers at Oregon State University, in association with the National Organization for Rare Disorders (NORD) are undertaking the first large-scale study about the information and psychosocial support needs of people living with rare disorders.

Obviously, the more responses they can get, the better the resulting data will be, and the more they can learn from it. If you'd like to participate, you can take a 40-minute online survey here: http://oregonstate.qualtrics.com/jfe/form/SV_7VEgG8kwTizenAN


If you're interested, do it now. The survey will be closing soon (possibly as early as Saturday, April 1). 

Note that to be eligible for the study (and focus group), you must be 18 or older, able to communicate in English and have a rare disease or disorder (not just be  the parent of someone with a rare disorder). XLH (and the related autosomal hypophosphatemias and TIO) qualify as rare disorders, since it's estimated that around 15,000 people in the United States have XLH (and the other conditions are even more rare). 


And for XLHers in the UK, Spain, Italy, France, Netherlands, Germany, Denmark or Norway ONLY:
The James Lind Alliance is looking for help in identifying identify unanswered questions about XLH and two other rare disorders in adults. To share your thoughts:
http://www.ouh.nhs.uk/research/patients/priority-setting-partnerships/musculoskeletal-rare-diseases/


The XLH Network, Inc. does not endorse or critique specific research projects, and does not counsel individual patients either for or against participation in any specific research. Prospective volunteers should always carefully review the informed consent documentation, and discuss the pros and cons of their participation with trusted advisers.



Wednesday, March 22, 2017

Things to do in Connecticut

XLH Day will be held on the Columbus Day weekend, a wonderful time of year to experience what Connecticut has to offer. To help you with your planning, we've asked Board Member Joyce Inman to share her experiences as someone who has traveled frequently to Yale from out of state. We'll have some more suggestions later on for outside the New Haven metropolitan area, but for now, here's what Joyce had to say:

Our family has been traveling to Connecticut to see our daughter’s XLH specialist for eight years. Our daughter was lucky enough to participate in one of the clinical trials for KRN23, and this meant even more travel to New Haven. One of the things we tried to figure out early on this process was how we could make the most of our visits and accomplish some nonmedical outings.

Following are a few of my and my daughter's favorites. Some of our suggestions take only a few minutes (a walk for ice cream) and others can take up your afternoon. Most of them do involve walking, but my daughter found most of our side trips enjoyable (and so did I). Enjoy, and let us know if you find other exciting places to visit in Connecticut.

Are you looking for a yummy bite to eat and a new book? We find ourselves in Atticus on most of our trips to make sure we have a good read for the trip home.

We promise this may be the best ice cream in the New England area. It is worth standing in line for, and you may want to try the grilled cheese sandwich (the only food they sell) as well.

Learning a bit more about the 300-year history of Yale University is fun for the whole family.

We are a southern family, so we are partial to beaches. New England beaches have an entirely different feel to them, and it is worth the ten-minute drive to neighboring West Haven to walk the shoreline with your family.

IT™ Adventure Ropes Course located in Jordan’s Furniture (http://www.jordans.com/attractions/it)
We lucked upon this one Saturday afternoon when we were looking for an indoor activity. Your family will love this indoor ropes course that includes a water and light show!

Yale University Art Gallery (http://artgallery.yale.edu/ ) Before going, be sure to check the hours (closed on Mondays) and also whether there's a special exhibit for a limited time.

Wednesday, March 15, 2017

Transition to adult care video

XLH has been viewed as a childhood disorder until recently, so there's been little thought given to transitioning patients from their pediatric health care provider to a specialist experienced with the challenges for adults with XLH. As we're learning more about the consequences of stopping treatment simply because the growth plates have closed, it's becoming more and more clear that adults should, at a minimum, be monitored for these adult symptoms, and possibly treated.

Parents of adolescents (and younger kids) might be wondering just what they can do to help make the transition smoother for their family. Global Genes recently did a webinar on the topic of "Transition of Care Planning for Care for Children with a Rare Disease," and you can listen to it (and see the slide presentation) here:  https://vimeo.com/192711829

The first speaker, providing an overview of the topic, is our own Scientific Advisory Board member, Maya Doyle, LCSW, PhD.

Wednesday, March 8, 2017

Sharing your experience with health insurance

The Collaborative on Health Reform and Independent Living (CHRIL) is a 5-year research project funded by the National Institute on Disability, Independent Living and Rehabilitation Research (NIDILRR) to study how health reforms affect working-age adults with disabilities. The CHRIL is currently looking for individuals with disabilities to participate in their research efforts.
During the months of April through July, CHRIL staff from the University of Kansas will be interviewing 20-25 adults (age 18 to 63) with disabilities across the US about their experiences using and getting health insurance and/or Medicaid and Medicare. Participants completing an interview will each receive $40. 
For more information: http://www.chril.ilru.org/participate 
Or contact by email: healthsurvey@ku.edu

Wednesday, March 1, 2017

Rare Disease Summer Camp

The National Organization for Rare Disorders (NORD) is once again working with the Hole in the Wall Gang Camp in Ashford, Connecticut, to host an event just for children with rare diseases and their families. This year, it will be held on June 1-4, and it is free of charge.

If you live in the northeast, and would like to attend, you can get more information (and a link to apply) here: https://rarediseases.org/rare-disease-summer-family-camp-place-call-home/?utm_source=HWGC&utm_medium=email






Thursday, February 23, 2017

Research brings hope to the XLH community

Patients with X-Linked Hypophosphatemia (XLH) are living the theme of this year's Rare Disease Day: "Research brings hope to people living with a rare disease."

Virtually all of the estimated 7,000 identified rare diseases have no truly effective treatments available, and until recently that was true of XLH. This year, though, XLH patients will be celebrating Rare Disease day on February 28th with renewed hope as researchers are closing in on what appears to be an effective treatment. XLH is a rare genetic disorder that affects approximately one in 20,000 people.

Patients produce an excess of a hormone known as FGF23, which causes them to have low levels of phosphorus in the blood. Without an adequate source of phosphorus, the body cannot form strong bones and teeth or properly fuel muscles. In the absence of treatment, patients experience bone deformities (most commonly bowed legs or knock-knees), short stature, spontaneous tooth abscesses, bone pain and muscle pain/weakness.

The role of FGF23 in the disorder was not known until 2000, when the hormone was first discovered. Since then, research has provided preliminary answers to a number of questions about XLH, and even to a proposed treatment, currently under review by the European Medicines Agency, and expected to be submitted to the FDA in the second half of 2017.

Clinical trials of the new treatment, known as KRN23, have been promising so far. This Rare Disease day, the XLH community is hopeful that with this treatment or others still in the pipeline, children born in the future will grow up strong and energetic.

The mother of a one-year-old infant in a clinical trial of KRN23 notes that this research "means everything to me." She goes on to say that "having this same rare disease and remembering the surgeries and treatments I endured makes me extremely grateful that my daughter is included in this trial."

For parents of slightly older children, there is nothing like the thrill of seeing their children improve noticeably. One mother of a ten-year-old girl notes that she hopes this research has led to a new therapy that will not cause the same problematic side effects of the only other therapy available to XLH patients. "Being part of a research trial has been intimidating," she says, "but it is so worth it. My daughter’s health is clearly better, and we are helping to pave the way for others."

The new treatment also offers hope to older patients whose bones are long past the critical growing years. One sixty-something XLH patient in a clinical trial of KRN23 hopes that the new treatment will prevent her mobility restrictions from getting any worse. "I may walk slowly," she says, "but I get where I need to go eventually. If my condition worsened, I might not be so independent, and that would be devastating."

Founded in 1996 and growing daily, The XLH Network, Inc., a 501(c)(3) non-profit, helps thousands of people around the world who are affected by XLH and related phosphate-wasting disorders. With the generous guidance of a Scientific Advisory Board, the Network engages in education, advocacy, and patient support by providing up-to-date information on diagnosis, treatment, research and clinical trials to patients, caregivers, medical providers, researchers and other key players in the medical services industry. The Network also fosters the search for better treatments and ultimately a cure.

For more about the XLH Network: XLHNetwork.org For more about Ultragenyx Pharmaceutical: Ultragenyx.com For more about the KRN23 clinical trial data: http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=989901 For more about Rare Disease Day 2017: www.rarediseaseday.org

Tuesday, February 21, 2017

Rare Disease Day February 28, 2017

What will you be doing on Rare Disease Day? There are activities all around the world. Find one near you: http://www.rarediseaseday.org/events/world

This year's theme is of particular interest to XLHers: "Research brings hope to patients living with rare diseases."

For those living in the U.S., the National Organization for Rare Disorders (NORD) is organizing state-level advocacy events, and could use your support. Find out about those organized events or learn how to organize your own here: http://rarediseaseday.us/events/advocacy-events/?utm_source=RDD17_email1&utm_medium=email#1474294382939-7c2f74aa-19892f0d-7a12

Board member Gin Jones will be on a panel at the event sponsored by Quinnipiac University's Frank Netter School of Medicine in North Haven, CT (a day early, on February 27). You can read more about it (and plan to attend if you're in the area) here: www.qu.edu/rarediseaseday 

Thursday, February 16, 2017

Last chance for Patient Day Scholarship

Quick reminder that Monday, February 20th, is the deadline to apply for a scholarship to the Patient Day sponsored by Ultragenyx Pharmaceutical in Novato, California. Don't wait until the last minute if you want to attend!

Information here: https://digital.lenos.com/keymeetings/UltragenyxPatientDay2017/Content/Welcome

Tuesday, February 14, 2017

Patient Assistance Programs

We all know that living with a rare disorder has its challenges. Many of them are physical or emotional, but there can also be significant financial challenges.

The current, basic standard of care for patients with XLH consists of two prescriptions, one for phosphorus supplements and one for calcitriol/Rocaltrol. In some cases, where hyperparathyroidism develops, a third medication, cinacalcet, may be prescribed. Access to all three of these prescriptions can be problematic.

In some countries, some or all of these medications may be unavailable. (Please let us know in the comments if you cannot get phosphorus supplements or calcitriol in your country. We'd like to have better information on this issue.) In the U.S., these items are available, but may be cost-prohibitive, since not all insurance companies offer coverage for these prescriptions.  It's not uncommon for insurance companies to deny coverage for phosphorus, arguing it's a "mineral supplement, not a drug." Similarly, they will assert (inaccurately) that calcitriol/Rocaltrol is a vitamin, not a drug. And finally, since cinacalcet is often assigned to the top tier of drugs (meaning it's particularly expensive), insurers will likely require step theory or recommend surgery to remove the parathyroids (even when not recommended by the treating physician) before approving coverage.

If you are a member of the Network (it's free to join at forum.xlhnetwork.org), you can download a sample letter, drafted by our Scientific Advisory Board member, Michael Econs, MD, to share with your doctor to appeal the denial of coverage for calcitriol, explaining that it is not a vitamin, but a hormone that we cannot metabolize on our own.

But that still leaves gaps in your access to treatment. What other options might you have?

There are several patient assistance programs in the U.S. (and we'd love to hear from XLHers around the world who might have other solutions for their own locations) that, in theory, can help improve access.

The programs fall into three groups. The first offers reasonably priced prescriptions to those without health insurance. The second consists of nonprofit organizations who offer help with copayments for those who have insurance coverage. The third consists of the pharmaceutical companies that manufacture/distribute individual treatments and provide assistance to those who cannot otherwise afford the treatment.

To help find an assistance program, NeedyMeds.org and the Partnership for Prescription Assistance www.pparx.org  and RXAssist.org offer search engines. You key in the name of your treatment, and it will link you to any relevant programs.

For more general information on patient assistance programs, check out this article at WebMED: http://www.webmd.com/healthy-aging/patient-assistance-programs-for-prescription-drugs

Please note that The XLH Network, Inc. does not have any affiliation with any of the above organizations, and does not endorse any of the programs. The information here is merely a starting point for further investigation by individual patients/caregivers.

Wednesday, February 8, 2017

Meet Executive Director Carol LaFleur

We are pleased to announce that Carol LaFleur, an experienced nonprofit professional, most recently as the Executive Director of the Northeast Kidney Foundation, has taken on the role of the first ever Executive Director of The XLH Network, Inc.

We could not have taken this step without the hard work of past and present board members, volunteers and the XLH community, or without a generous grant from Ultragenyx Pharmaceutical. We are extremely grateful to everyone who made this big step forward possible.

It will take some time for Carol to settle in and get to know everyone in our community, from patients and family members to clinicians and researchers, so until then, here's what she had to say in response to our three basic interview questions:


1. How did you get involved with the XLH Network? I found the advertisement on Indeed.com and it piqued my interest. After reading about the organization and learning some of the goals the board wants to accomplish, I became increasingly excited for the opportunity.

2. What's your "super power" -- the special skill, knowledge or experience that you bring to the board? I don't know if I have a "superpower" per se, but I am very passionate about healthcare. Having a long history of working with patients and families, I am very committed to making a difference and helping others understand the challenges anyone living with a chronic illness faces. 

3. What XLH project are  you working on now that you're particularly enthusiastic about? The board has a very strategic vision for where they want to bring the organization, and I am excited to have an opportunity to help carry that out. The clinical developments are very promising as well, and I am excited to be joining the organization at a time that is really positioning the organization for growth. I look forward to working with everyone and learning how I can best be of service!

Thursday, February 2, 2017

Last chance: joint replacement survey

There's just a little over a week left until the online survey about XLHers' experiences with hip or knee replacement will close (Feb. 10th). If you've been meaning to do it, now's the time! And note that you CAN participate in this survey even if you're in a clinical trial.
Here's the link:
The survey consists of an online questionnaire for men and women aged 18 or older with X-linked hypophosphatemia (XLH) who have had a hip or knee replacement. Compensation is offered by way of a Starbucks gift card. 
The researchers have already received some good information that will help to educate clinicians about joint replacements for XLHers, but with just a few more, they'll reach their participation goal and maximize the usefulness of their data.
As always, we encourage you to do your due diligence before participating in a research study. 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 advisers, including their health care providers and family members. For more information on research participation, check out https://www.hhs.gov/ohrp/education-and-outreach/about-research-participation/index.html


Tuesday, January 31, 2017

XLH Information for Rare Disease Day

The theme for this year's worldwide Rare Disease Day is "Research Brings Hope to People Living with a Rare Disease." With significant research being conducted in relation to our own raredisease, we are all living examples of what this theme can mean to a patient group. So we are looking for our members to help us spread the word about XLH and associated phosphate-wasting disorders for Rare Disease Day 2017.

There are a few ways you can help!

•        We have prepared a press release and a cover letter that can be downloaded here (along with instructions for use) and sent to your local newspapers now (don't wait for February 28th). You simply need to personalize the cover letter so that local journalists can contact you if they have questions.

•        Even better, you could use our template and add a brief section about your own experiences with XLH and your hopes for what research can do for you, your family, and the XLH community. Local papers are much more likely to pick up the story when they realize that it is relevant to one of their constituents and can put a face to the name!

•        As Rare Disease Day approaches, use your social media outlets! Consider making a sign that includes this year’s Rare Disease Day theme and mentions that you have XLH, take a selfie with the sign, and put your picture out there for friends and family to see. Be sure to include The XLH Network's website, XLHNetwork.org, and our Twitter handle @XLH_Network, on your sign for anyone who wants to learn more. We have some premade ones you can download here.

The XLH community is living proof that research IS bringing hope to those living with rare diseases. We hope you will help us let others know!

Thursday, January 26, 2017

2017 XLH Day: October 6-7

Mark your calendar: XLH Day 2017 will be held on October 7 (Columbus Day weekend) at Quinnipiac University's Frank Netter MD School of Medicine in North Haven, CT., with early-bird events on October 6. We'll have both educational and networking activities for adults and kids.

We hope to see you then!


Tuesday, January 24, 2017

Ultragenyx Pharmaceutical's Patient Day

Every year, Ultragenyx Pharmaceutical invites patients with certain rare diseases, including XLH and the related phosphate-wasting disorders, to their annual patient day in Novato, California, for food, games, refreshments and live music.

This year's event will be April 22, 2017, and a limited number of scholarships are available to pay for transportation and lodging. To get more information, or to register and/or apply for a scholarship, go here: https://digital.lenos.com/keymeetings/UltragenyxPatientDay2017/Content/Welcome

Scholarship recipients will be chosen on February 20, 2017, so apply before then if you're interested.

Please note that anyone currently enrolled in a clinical trial (or with a child enrolled in a clinical trial) sponsored by Ultragenyx Pharmaceutical may or may not be eligible to attend Patient Day due to federal regulations. When you register, you'll be asked about which trial you're in, and then the information will be reviewed and you will be contacted if you are ineligible to attend.

Thursday, January 19, 2017

What you can do

It's easy to fall into hopelessness and the feeling that there's nothing you can do to improve either your own XLH experience or anyone else's.

That's not true, though. There are several things you can do right now:

1. Keep yourself informed about the latest on XLH research and treatment options by joining, visiting and participating in our forum: XLHForum@xlhnetwork.org Don't just lurk. Say something, share an experience, ask a question, answer someone else's question!

2. Participate in the various research opportunities that are pending:
A. Survey on hip/knee replacement: http://quinnipiacmed.az1.qualtrics.com/jfe/form/SV_6n9bQ8DOWPiITvT
B. Survey sponsored by NORD and Oregon State University on the informational and psychosocial support needs of people living with rare disorders: http://oregonstate.qualtrics.com/jfe/form/SV_7VEgG8kwTizenAN

3. Participate in information-gathering interviews, like the one sponsored by Ultragenyx Pharmaceutical on pediatric issues (or future interviews that will undoubtedly include older age groups). For more information, contact Holly.Spencer at AdelphiValues.com

4. Educate yourself on important health issues. Global Genes is offering a webinar on February 1 about navigating the health insurance system. You can register here: https://globalgenes.org/rare-webinar-healthinsurnace101/?utm_source=Global+Genes+Master&utm_campaign=4abc3fc8b0-November_Webinar10_28_2016&utm_medium=email&utm_term=0_88feb79218-4abc3fc8b0-166285561

5. Plan to attend events where other XLH patients gather to share their experiences, like XLH Day to be held in Connecticut on October 6-7 (Columbus Day weekend). Volunteering at XLH Day would be a great way to help yourself and others too!





Tuesday, January 17, 2017

Peru National Paralympics

XLHers don't let their challenges keep them from accomplishing great things. This past November, three girls with XLH participated in swimming events at the 2016 Peru National Paralympics,  held at the Olympic Swimming Pool in the Callao-Lima Region of Peru.  

The girls underwent two months of intense training and constant practices, which paid off as they climbed the medals podium.  Marcielo del Pilar Gonzalez (16) took a first place prize, Sandra Valeria Arista (13 years old) a second place, and Mayda Ramirez (23) a third place.  

Marcielo and Valeria qualify to get further training to compete in the under-21 group for the ParaPanamerican Games in 2019.  Their teacher is Fernando Cuadros Cuadros and their trainer is Yajhaira Heidy Lazo Araujo.  

It should be noted that these athletes have overcome more disadvantages than some of the more fortunate members of the XLH community. Living in Peru, they cannot always find the medical assistance required for even basic treatment of XLH. Medicines that are taken for granted (especially the phosphorus supplements) are not readily available in many countries, including Peru.

On behalf of the entire XLH community, we wish the very best for Marcielo and Valeria as they continue training and eventually participate in the 2019 Games. 

Thursday, January 12, 2017

Interviews about pediatric treatment goals

The medical community is listening to patients more and more, and now the XLH community is in particular demand for sharing our thoughts and experiences as the time approaches for Ultragenyx Pharmaceutical to apply for early approval of KRN23 for pediatric use in 2017. Ultragenyx is looking to talk to a few pediatric patients and their parents to better understand whether their original goals for the clinical trials were correctly targeted and to get better insight into what children and caregivers think are the most significant ways in which better treatment might be meaningful. 

If you're interested in participating, please contact Adelphi Values, the research company contracted by Ultragenyx to do the interviews. You can reach Holly Spencer at holly.spencer@adelphivalues.com or 617-720-0001. Participants will be compensated for time and/or travel. More details are in the official flyer from Ultragenyx below.

Some members of the community have already offered feedback in other settings, like the Burden of Illness survey and the recent joint-replacement survey. We (and the researchers) appreciate everyone's contribution to science, but there's so much more to be learned. Potential new medical therapies like KRN23 require significant clinical research to make sure they're safe and effective and they're meeting the needs of patients and their families. Clinical trials, however, are only part of how the research community determines how best to treat patients living with chronic illnesses. Another important method consists of interviewing patients (and caregivers). 

Eventually, the Network's Natural History Study  (launching in 2017) will collect answers to a broad range of questions about experiences with phosphate-wasting disorders, so future research won't have to start from scratch. That will take time, though, and some answers are needed about the patient experience in the very short term, while the application for KRN23 approval undergoes review by the FDA and comparable governmental agencies throughout the world. Much of this information is related to whether or not the original goals for clinical trials were correctly targeted, and the only way to determine that is to ask further questions of patients. 

As always, 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 advisers, including their health care providers and family members.



Tuesday, January 10, 2017

Filing for KRN23 approval from European Medicines Agency

Ultragenyx has announced that "the European Medicines Agency (EMA) has accepted for review the Marketing Authorization Application (MAA) for KRN23 for the treatment of X-linked hypophosphatemia (XLH). The MAA was filed and accepted in late 2016, and an opinion from the Committee for Medicinal Products for Human Use (CHMP) is expected in the second half of 2017."

You can read the full press release here: http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=1006547

Thursday, January 5, 2017

Meet the director: Elizabeth Olear

We're pleased to have a new board member, Elizabeth Olear, joining us. To help you get to know her, she's answered a few basic questions about what she sees as her role on the board.

How did you become involved with the Network? I began working with Dr. Thomas Carpenter in Pediatric Endocrinology at Yale in 2006 and started learning about XLH and meeting all of our wonderful patients. Somewhere along the way I was introduced to the XLH Network and immediately wanted to be involved in connecting patients to each other and to the greater XLH community, as well as providing opportunities for education. It was in this spirit that I conceived the first XLH Day which was held on September 10, 2011. What's your superpower (a skill that you'll be using as a director)? This one was a challenge so I ended up polling my colleagues for their thoughts and I was told that my super power is finding the eye of the storm. When things get hectic, as they inevitably always do, I have a knack for finding the center and the calm, and am generally able to bring some of the chaos going on around me to a peaceful and composed landing. When things seem impossible, I usually find a way to make things happen. And most importantly, if all else fails, I make a great chocolate cake! I’m not sure if it is a superpower, but I believe that my combined backgrounds in Child Development (note, this is not Child Life) and medical science give me a unique perspective to understand both the human experience (& needs, fears, hopes, etc.) of living with XLH (or having a child/family member with XLH) and the science of the disorder. Some of my favorite people have XLH so I hope that, as a member of the Board, I can do my best to represent their needs and give them hope for the future. What Network project are you particularly excited about that you're working on? I am particularly excited about education. One of our greatest responsibilities as clinicians and researchers, is to educate our patients about their health and about XLH; a well-informed patient has their own unique super-power in that they can advocate for themselves and their family members and provide the best possible health outcome in the face of this disorder. Secondly, as always, I am looking forward to bringing the XLH Network to a new generation of patients and their families. We are on the brink of some new developments for the treatment of the disorder and I hope, in a small way, I can be a unifying member of Team XLH especially for some of our younger patients and their parents, for patients with related disorders and for our international members around the globe. Rachael Jones and I have a special project we have already begun working on and we can’t wait to share it with you later in 2017!

Tuesday, January 3, 2017

News for the new year

Effective January 1st, we have a slightly rearranged slate of officers and an additional at-large board member. The current officers and board members are:

President: Bill Coogan
Vice-President: Joyce Inman
Secretary: Rachael Jones
Treasurer: Geoff Edelson
Returning board members at-large: Chris Younger, Oliver Gardiner, Kathy Buchanan, Gin Jones
New board member at-large: Elizabeth Olear

We'll have an interview with our new board member later this week, so you can get to know her and appreciate the excellent skills she brings to our work.

And one little bit of old news -- if you've had a hip or knee replacement, researchers would like to hear about your experience (and you'll get a Starbucks gift card in return). The survey will be closing soon, so if you want to participate, don't wait! Read about it here: http://quinnipiacmed.az1.qualtrics.com/jfe/form/SV_6n9bQ8DOWPiITvT