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:

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:

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 (
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 ( ) 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:

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: 
Or contact by email:

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: