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.