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 prehealth-liaison@simmons.edu

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: http://www.eventbrite.com/e/rare-disease-day-quinnipiac-university-2016-tickets-20780130931 The agenda includes a performance by Nora Johnson, a patient panel, and keynote speaker Dr. Frederick Kaplan.

For events in other locations, check out http://www.rarediseaseday.org/events/world

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:

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.

XLH Video won Telly award

The video on Growing Up With XLH (which you can see here) was entered in the Telly Awards, which "honors the very best film & video productions, groundbreaking online video content, and outstanding local, regional & cable TV commercials and programs."  

And it won the bronze award in the Health & Fitness category!

Board Member Bill Coogan went to Quinnipiac University to meet with the people behind the video's production, which included the Network's Scientific Advisory Board's chair, Dr. Carolyn Macica, Peter Gallay (holding the Telly Award) and Justin Schussler. Peter led the video team, which included Justin Schussler, Michael Vaspasiano, and a student intern, Justin Hall. The video has been viewed in excess of 1,700 times since April.

XLH Day 2013 Photos

XLH Day 2013 photos are posted on the XLH Day Facebook page, or click the link below.

https://www.facebook.com/media/set/?set=a.603699243021292.1073741825.199444820113405&type=1&l=151fd916dc

XLH Day 2013 was held at Quinnipiac University on September 21st & 22nd.   To view the details of this event go to xlhday.com

XLH Day 2013

We are very excited to announce the completion and availability of the XLH Day panel I and Panel 2 videos from XLH Day 2013, held at Quinnipiac University. We would like to thank Quinnipiac University and the Academic Technology staff for providing the resources necessary to document this special day. We hope you find the material educational.

The URL's are:

Panel 1 : http://youtu.be/IIAtcMGaUVU

Panel 2: http://youtu.be/ay8LdZspmco