Global Genes (globalgenes.org) has a really outstanding webinar (video) at its site with suggestions for working with your health care team about your (or your child's) rare disease.
Three particularly interesting points were:
1) it's useful to write out a brief narrative of what the disorder is and what your experience with it is, and bring it with you to medical appointments to make it easy to tell new health care providers the basic information without forgetting anything important;
2) for children who are hospitalized, there are often "child life" professionals who can help with things that aren't exactly medical treatment, but that make the experience better, so be sure to ask for those services; and
3) for both adults and children who are undergoing a wide range of treatment and have had a case manager assigned at the insurance agency, consider that person part of your medical care team and keep him/her in the loop.
Even as we're recovering from an amazing XLH Day in Houston, Texas (more on that next week), we're gearing up to represent the XLH community at other events this fall.
First up is the American Society for Bone and Mineral Research (ASBMR) annual conference in September, to be held this year in Atlanta. You can read about it here: http://www.asbmr.org/annual-meeting
We are part of the Rare Bone Disease Patient Network, which will have a booth at the conference, and is involved in a workshop that will include brief talks on a number of rare bone diseases. The section on XLH will be presented by the Network's Scientific Advisory Board member, Suzanne Jan deBeur.
Karl Insogna, MD, will be one of several doctors talking about "How Discoveries Lead to Treatment of Rare Bone Disease Treatment." His presentation will be focused specifically on XLH in adults.
In addition, several members of our Scientific Advisory Board will also be there for posters and/or presentations, and we'll report back on the details after the event.
The Network's board is getting ready for XLH Day, where we're hoping to hear the stories of everyone there. That's only a small portion of our membership, though, so we still want to hear your stories for our book, Weak Bones, Strong Wills, The Stories of XLH.
So far, we've got submissions from as far away as Russia! And experiences from people ranging in age from early twenties, born after the current treatment was developed, through to those who were born much longer ago, when the treatment ranged from simply ineffective all the way to potentially harmful.
We've got stories from patients and from parents of patients. We'd really like to hear from a sibling of an XLHer, about living in a family affected by the disorder without actually having it oneself.
We'd also like some more focused bits, thinking about a single incident that characterized a single moment in a long life of challenges. Things like how phosphorus supplements and vitamin D tasted before they were introduced in pill forms -- and all the ways you found to hide them instead of ingesting them! Or dealing with the local bully who made fun of your gait/height. How you overcome someone telling you that you couldn't do something you wanted to do. Or perhaps a recollection of a favorite doctor or nurse or teacher or friend, who made a difference in how you looked at your medical condition.
If you already have a topic, and you're having trouble finding the time to sit down and write your story, or if you get blocked when you sit down to write, consider using a voice recorder app on a phone to tell the story (or get an older family member to tell his/her story) in rough form. Then you can transcribe it and do some polishing, without having to face a blank page!
For more info and for submission rules, go here: http://vps.xlhnetwork.org/~xlhforum/forum/index.php?topic=226.0
Don't wait too long. The deadline is October 1, 2016, which will be here before you know it!
A new research study at Quinnipiac University, led by our Scientific Advisory Board chair, Carolyn Macica, PhD, is looking into XLH patients' experience with joint replacement surgery. Please note that anyone currently in a clinical trial is NOT eligible for this study.
Here's the official description:
We are seeking men and women aged 18 or older with X-linked hypophosphatemia (XLH) who have had a hip or knee replacement to participate in an online questionnaire in exchange for a Starbucks gift card. The purpose of this questionnaire is to learn more about joint replacements in patients with XLH. With the information gathered, we will be able to educate clinicians about joint replacements in patients with XLH.
Step 1: The first step is to determine if you qualify for the study. If you are a male or female aged 18 years or older diagnosed with XLH by a physician and you have had either a hip or knee replacement more than 6 months ago, you qualify to participate in this study. You may not be involved in any current clinical trials to participate in the study.
Step 2: Next, you will be asked to complete an online questionnaire about your joint replacement(s). It will take about 30 minutes to complete, so please make sure you have enough time to give thought to each of your answers. You will also be asked to sign a medical records release form and provide us with your orthopedic surgeons name and office number, so please make sure you have those available before starting the questionnaire. You will receive a $30 Starbucks gift card if you complete the survey.
Think you qualify? Click the link below to begin the survey:
DISCLAIMER: 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.