Thursday, February 25, 2016

Rare Disease Day 2016

Next Monday, February 29th, is World Rare Disease Day.

Network board member Gin Jones will be part of a Rare Disease Day panel discussion at Simmons College, from 6 to 8 pm in the School of Management Building, Room M201. The public is welcome, and for more information, you can contact

Also that day, Scientific Advisory Board member Carolyn Macica PhD is involved with the Second Annual Rare Disease Day event at Quinnipiac University from noon to 4 p.m. Pre-registration is required (no later than February 27), but is free: The agenda includes a performance by Nora Johnson, a patient panel, and keynote speaker Dr. Frederick Kaplan.

For events in other locations, check out

Tuesday, February 23, 2016

First Rare Disease Summer Camp

The National Organization for Rare Disorders (NORD) is working with the Hole in the Wall Gang Camp ( to host a special Summer Family Camp for rare disorders for a long weekend, from June 2 to 5.

The event is free of charge for twenty-five families who reside in the northeast United States (the camp is in Connecticut). To be eligible for consideration, you must submit an application that includes medical consent forms for each family member who will attend, and a medical exam form relating to the child with a rare disorder, to be completed by the family's own medical provider.

Applications are due by April 1 (but don't wait; there are limited slots!). The application is available here:

Wednesday, February 17, 2016

Finding a specialist

It isn't always easy to find a health care provider for treatment of a rare disorder, and yet, it's absolutely critical for these patients to see a specialist who has the most up-to-date information on appropriate treatment and the potential side effects, and who also has access to information on clinical trials.

So, how do you find such a specialist? The first step is to ask the XLH Network community. If you're a member of the Network, you have access to our database of health care providers who have been recommended by other patients. You can find a link to join at our website:

If our database doesn't have a specialist who's local to you, then you have two options: 1) you can travel to a city that has well-known experts—highly, highly recommended for pediatric treatment—which our members will tell you about at our online community, or 2) look for someone local who has the necessary expertise.

If you're going to find your own local expert, your best bet is usually at a teaching hospital. For an online search tool for teaching hospitals in the United States, check out Health Guide USA here:

Once you've located the teaching hospital in your area, you still need to find an individual doctor. Most hospitals today have websites where you can search for doctors based on their medical specialty. For the day-to-day treatment of XLH (as opposed to something like surgical intervention or pain management), the relevant specialty is endocrinology. That specialty covers a broad range of conditions, though, so look for someone who mentions an interest in "bone metabolism."

It would be nice if you could interview the doctor before your first appointment, but that's not generally possible in the United States. Still, your work is not finished until you've actually met the specialist and confirmed that he/she is right for you. Remember that you don't have to keep the first doctor you see, so be prepared to ask a few questions about his/her expertise during the first appointment. The doctor obviously can't share any personal information about his/her patients but should be able to say how many XLH patients he's treated and what other relevant experience he has with bone metabolism issues.

It can take some time to find the right doctor, but, particularly for a rare condition, where improper treatment can be extremely harmful, it's worth the extra effort to work with someone who is familiar with the disorder and its treatment.

Wednesday, February 10, 2016

Meet new SAB member Maya Doyle

1. How did you get involved with the XLH Network and its Scientific Advisory Board?
I met Carolyn Maccica during my first week teaching in the Department of Social Work at Quinnipiac.  A colleague knew that I had done my doctoral research with a rare disease group - cystinosis - whose patients experience rickets in childhood. One of the patients I know well has written a book called Rollerskating with Rickets (which I highly recommended) that is full of wonderful essays about her experience living with a rare condition.  That book was sitting on my desk when Carolyn walked into my office for the first time, and we started to trade notes on our disease specialties. We immediately started to talk about the XLH study she was working on, and I immediately wanted to include a qualitative piece about the experience of those who are living with XLH as adults.

2. What's your "super power" -- the special skill, knowledge or experience that you bring to the SAB?While most of my clinical experience as a social worker has been in pediatrics, my research interests are in the psychosocial impact of chronic and rare disease across the lifespan for both patients and families, and particularly the transition to adulthood and adult-oriented care for those diagnosed in childhood. I am a qualitative researcher by training, so my goal is always to bring the voice of patients and families back to the clinicians , researchers, foundations and industry that interact with them.

3. What XLH project are  you working on now that you're particularly enthusiastic about?I am in the process of analyzing the data from interviews and surveys that were conducted with adults with XLH at Quinnipiac in 2015, and look forward to sharing those findings with the XLH community!

Friday, February 5, 2016

Ultragenyx Patient Day registration is open

Registration (and scholarship applications) is open now for Ultragenyx Pharmaceutical's Patient Day, designed to honor patients (children and adults) with rare diseases, including XLH. The event will be held on May 21, 2016 in Novato, California.

Please note that this event is NOT the same as XLH Day. This one is hosted by Ultragenyx, not the XLH Network, but we expect that there will be several XLH patients there, and so will the Network's new president Bill Coogan.

The event is free and travel scholarships may be available, but in limited quantities, so apply soon if you're interested.

XLHers who are in Phase 3 of the KRN23 trials may NOT attend the event. All others may, including those who are/were in Phase 2 KRN23 trials.

For more information, check out

Wednesday, February 3, 2016

Save the date: TX XLH DAY

Save the date: TX XLH Day will be held on August 12-13, 2016 (get-together on Friday night and main events on Saturday) in Houston, TX. More details will follow as we have them, and will be announced on all our social media platforms.

Meanwhile, if you want to see what's been done in the past, we've added the West Coast XLH Day speakers' videos to the Network's Youtube channel:

The videos include presentations by: pediatric endocrinologist Anthony Portale, M.D.; our SAB chair Carolyn Macica, PhD.; Genetic Counseler Kimberly Barr, MS, LCGC; and a representative of Global Genes.

Don't forget that in addition to these videos and the ones from Midwest XLH Day that are directly available at our Youtube channel, our "Playlist" has links to other relevant videos, like the "Growing Up With XLH" video and the videos from XLH Day at Quinnipiac University.