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.