The deadline for our challenge to capture "What XLH means to me" in a picture is coming up fast: this Saturday, November 1.
We've got some great pictures for our guest judge (Laura Hensser, a photographer and Curatorial Project Assistant with London's Tate Modern), but we'd like to see some more!
Remember that we're looking for a wide variety of experiences, not limited to time spent in medical and dental offices. No one thing defines us all, or captures every moment of our lives. So, let's see the diversity of what XLH looks like!
If you'd like to participate in this challenge, there are just three things to remember:
1. You have to be a member of the Network (or the child of an adult member) to participate.
2. You can submit up to three pictures per member by sending the digital files to Oliver.Gardiner@XLHNetwork.org. In the subject line of the email, please indicate either: "challenge, adult" or "challenge, minor."
3. Some pictures may be chosen for promotional use by the Network, so we'll need to have a written release from you. Along with the picture file(s), please attach a PDF file of the signed photo release (parents/guardians must sign for anyone under the age of 18). You can find the release here: https://www.dropbox.com/sh/egfgzsr8i0l6az3/AABilA7pMp3oAEFOJQeP_1zCa?dl=0
If you can't scan the signed release to send it back as a digital attachment, you can print the form, sign it and mail it to our headquarters: 911 Central Ave. #161, Albany, NY 12206.
If you have any questions that aren't addressed here, please post them to the listserv, so everyone can see our answers.
We can't wait to see your pictures! We'll share the very best with you in December.
Wednesday, October 29, 2014
Wednesday, October 22, 2014
Donations of appreciated stock
A number of our members have made inquiries about whether or not they can donate stocks and securities as part of their giving to the efforts of the XLH Network, and we are excited to inform you that now you can!
Your gift of appreciated stocks or securities (sometimes recommended for tax or estate planning purposes) can help further the mission of the XLH Network and change the lives of families living with XLH.
Electronic or depository trust company (DTC) transfer of stock through a broker can be made through the Wells Fargo Advisors Financial Network account held by the XLH Network. For instructions on completing an electronic stock transfer or handling gifts of physical stock certificates, contact one of the following individuals:
Geoff Edelson, XLH NetworkTreasurer: gsedelson@hotmail.com
Chris Inman, CFP® with Wells Fargo Advisors Financial Network at 601-602-3571 or chris.inman@inmanwm.com
We will need to know the donor name, address, phone number, email address, and details of the contribution so we can acknowledge the gift.
Monday, October 20, 2014
Midwest XLH Day
Join us for our first Midwest
XLH Day on November 14-15, 2014 in Indianapolis, IN!
At
Midwest XLH Day, you will meet other families dealing with XLH, discuss the
challenges, learn how others cope, and develop new strategies for managing your
own or your child’s symptoms.
Due to a generous educational grant from Ultragenyx Pharmaceutical, the XLH Network is offering a limited number of free hotel
rooms on Friday, November 14 for up to 30 families, a reception on
Friday evening, an educational program and lunch on Saturday, and tickets to
the Children’s Museum Saturday afternoon.
Guest speakers for this event will be Erik A. Imel, M.D., Alison Skrinar,
PhD, and Scientific Advisory Board member, Carolyn Macica, PhD.
We are pleased to announce that registration for this event
is officially open. Please go to XLHDay.com and register now!
You must be a Network member to register, but joining is free. Just go to XLHNetwork.org, click on "become a member," and follow the links.The last day to register for this event is November 8th.
You must be a Network member to register, but joining is free. Just go to XLHNetwork.org, click on "become a member," and follow the links.The last day to register for this event is November 8th.
We look forward to greeting old friends and making new
acquaintances!
Wednesday, October 15, 2014
Study of Mobility, Gait, ROM & QOL
Our Scientific Advisory Board chair, Dr. Carolyn Macica, is the lead investigator in a new research study of XLH patients, looking into mobility, gait and range of motion issues. She's looking for adult volunteers with XLH.
Here's the official announcement, sent to us by Dr. Macica:
AND A FINAL NOTE FROM THE XLH NETWORK: As always, the XLH Network, Inc. does not counsel individual patients either for or against participation in any specific research study. Prospective volunteers should always carefully review the research study's informed consent documentation, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.
Here's the official announcement, sent to us by Dr. Macica:
Study of Mobility, Gait, Range-of-Motion and Quality of Life in Patients
with X-linked Hypophosphatemia
We are seeking 40-65 year old men
and women with X-linked Hypophosphatemia (XLH) to participate in a research
study at Quinnipiac University (Frank H. Netter School of Medicine, North
Haven, CT). The purpose of this study is to learn more about the impact of XLH
on the daily life and activities of adults with XLH. Using the information we
learn from this study, we expect to gain a better understanding of the
day-to-day challenges facing adults with XLH and, ultimately, hope to develop evidence-based
strategies that lessen the burden or even help overcome these challenges.
STEP 1: To see if
you are eligible for this study, you will be asked to answer several questions
about your XLH and physical activity.
STEP 2: The study
team will review your answers (consisting of Dr. Macica, a radiologist, physical
therapists, an occupational therapist, and a social worker). If you are deemed
eligible, they will invite you to participate in the study.
STEP 3: If you
choose to participate, you will be asked to come to the Netter School of
Medicine in North Haven, Connecticut and will undergo:
i) an x-ray to assess your bone
and joint health; ii) measurements of your arm and leg muscle strength, and of
your joint range of motion; iii) measurements of the way you walk, your
posture, and your balance in the Motion Analysis Lab at Quinnipiac University;
and iv) completion of survey materials and a one hour in-person interview and to
assess your well-being as it relates to the impact of XLH on your day-to-day
activities.
The study does not involve the
use of needles or invasive procedures, and all aspects of it can be completed
in about 4-5 hours during a single visit. Selected students, who are training
in the health professions, will also observe and participate in the study as part
of their academic experience and to learn more about rare bone disorders.
Cost of travel and lodging will
be covered for patients who qualify for this study. As a token of our
appreciation, eligible participants who complete the study will also receive a
$50 payment using a generous donation from the The XLH Network, Inc.
This study will also include an additional
online survey for individuals 18 and older, to better understand the experience
of living with XLH as an adult, and the transition to adulthood and
adult-oriented care for those diagnosed in childhood.
Study HIC#: 5414
Principal Investigator: Dr. Carolyn M. Macica
Patient coordinator: Erika J. Parisa
Contact information: XLHstudy@quinnipiac.edu
AND A FINAL NOTE FROM THE XLH NETWORK: As always, the XLH Network, Inc. does not counsel individual patients either for or against participation in any specific research study. Prospective volunteers should always carefully review the research study's informed consent documentation, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.
Wednesday, October 8, 2014
Some initial survey results
The lead scientist in charge of the Burden of Illness survey that we've been talking about (if you haven't taken it yet, consider doing it now by clicking here), Ali Skrinar, PhD, MPH, with Ultragenyx was kind enough to share with the Network's Board some preliminary information about what she's learned already from the responses to the survey.
We can't get into all the details, especially since this is just preliminary information at the mid-point of collecting data, but Dr. Skrinar is excited about what she's learning and finally having statistics to back up what we know anecdotally. It won't come as any surprise to an XLH patient that the data confirms that, as a group (and this is a generalization, with outliers, so it doesn't necessarily apply to everyone), we're shorter than most, we have more bone/joint pain than most, and we have dental issues.
No surprise, right, but this is the first time that we know of, where researchers had data to back this up, and scientists don't believe anything without data (or, actually, without multiple sets of data, but for right now, we're happy to have one set!). The plan is for this data to be published, so there will finally be a medically recognized resource that both medical professionals and patients can refer to.
Dr. Skrinar was thrilled by the response so far, but like us, she's greedy for more, more, more. The more data she has, the more confidence she can have in her conclusions and the more attention the medical community will pay to the survey results.
The data collection will end December 8th, so we're getting down to the final weeks. She'll be grateful for any additional responses whatsoever, but in particular, she'd like to see more responses on behalf of children. (Note that the early glitches reported with respect to filling out the survey for children have been fixed, so if you held off, there's no need to wait any longer.)
Dr. Skrinar also has on her wish list the possibility of hearing from more adult males, since significantly more adult females have responded than males. For years, it's been reported, both in personal conversations and in journals, that the symptoms may be more severe in male XLHers than female XLHers. While this survey doesn't directly address that issue, it's possible that getting more responses from XLH males will give researchers at least a glimmer of an idea of how to investigate that issue.
As always, the XLH Network, Inc. does not endorse or critique specific research surveys, and does not counsel individual patients either for or against participation in any specific survey. Prospective volunteers should always carefully review the research survey's informed consent documentation, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.
We can't get into all the details, especially since this is just preliminary information at the mid-point of collecting data, but Dr. Skrinar is excited about what she's learning and finally having statistics to back up what we know anecdotally. It won't come as any surprise to an XLH patient that the data confirms that, as a group (and this is a generalization, with outliers, so it doesn't necessarily apply to everyone), we're shorter than most, we have more bone/joint pain than most, and we have dental issues.
No surprise, right, but this is the first time that we know of, where researchers had data to back this up, and scientists don't believe anything without data (or, actually, without multiple sets of data, but for right now, we're happy to have one set!). The plan is for this data to be published, so there will finally be a medically recognized resource that both medical professionals and patients can refer to.
Dr. Skrinar was thrilled by the response so far, but like us, she's greedy for more, more, more. The more data she has, the more confidence she can have in her conclusions and the more attention the medical community will pay to the survey results.
The data collection will end December 8th, so we're getting down to the final weeks. She'll be grateful for any additional responses whatsoever, but in particular, she'd like to see more responses on behalf of children. (Note that the early glitches reported with respect to filling out the survey for children have been fixed, so if you held off, there's no need to wait any longer.)
Dr. Skrinar also has on her wish list the possibility of hearing from more adult males, since significantly more adult females have responded than males. For years, it's been reported, both in personal conversations and in journals, that the symptoms may be more severe in male XLHers than female XLHers. While this survey doesn't directly address that issue, it's possible that getting more responses from XLH males will give researchers at least a glimmer of an idea of how to investigate that issue.
As always, the XLH Network, Inc. does not endorse or critique specific research surveys, and does not counsel individual patients either for or against participation in any specific survey. Prospective volunteers should always carefully review the research survey's informed consent documentation, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.
Wednesday, October 1, 2014
An easy way to contribute
This week we have a note from the Network's fundraising chair, Joyce Inman:
Did you know that the XLH Network is one of the many charitable organizations registered with the Amazon Smile program? This means that if you are an online shopper with Amazon, you can set up your account so that Amazon gifts .5% of your purchases to the Network! I don't know about you all, but the ease of online shopping has changed my life for the better. I love that I can purchase a new book or order Christmas gifts for family members who live across the country. I suppose I have bought into America's fascination with instant gratification. This, however, is not all bad! Now I can make purchases I am going to make anyway and a small portion of the amount I spend will go to the XLH Network—an organization that is very important to me and my family.
Did you know that the XLH Network is one of the many charitable organizations registered with the Amazon Smile program? This means that if you are an online shopper with Amazon, you can set up your account so that Amazon gifts .5% of your purchases to the Network! I don't know about you all, but the ease of online shopping has changed my life for the better. I love that I can purchase a new book or order Christmas gifts for family members who live across the country. I suppose I have bought into America's fascination with instant gratification. This, however, is not all bad! Now I can make purchases I am going to make anyway and a small portion of the amount I spend will go to the XLH Network—an organization that is very important to me and my family.
To shop using Amazon Smile, simply go to smile.amazon.com. On your first visit to the site, you will need to select the XLH Network as the charitable organization of your choice before you begin shopping. The site will remember your choice, and every time you shop with Amazon you will benefit our organization and the work we are doing on behalf of families with XLH.
If you are already an Amazon shopper, we hope you will consider selecting the XLH Network as your charity of choice and use Amazon Smile. Every little bit counts!
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