By Barbara Lavery

On Friday and Saturday of this week, I participated in the West Coast XLH Network Day on behalf of Global Genes. The event was hosted by Ultragenyx and Kyowa Kirin. The two days brought together families impacted by XLH, a rare genetic disorder.

Wondering what XLH is? XLH is an X-Linked Hypophosphatemia, a genetic disorder that affects about one in 20,000 people. Typically, it is passed from one generation to the next, but sometimes appears in an individual with no family history of XLH. The two-day meeting included both families with grandparents, parents, and kids with XLH, as well as some people with spontaneous XLH, with no previous family history of the disease.

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Presentations covered many of the challenges faced by the XLH community including:

  • “17 Things You’ll Only Understand If You Have A Child With A Rare Disease”
  • “XLH: The Transition From Childhood To Adulthood”
  • A workshop during which everyone shared their personal stories, discussed common issues like reimbursement, pain management, the value of alternative therapies like yoga and pilates, and how to manage in the workplace.

Dr Anthony Portale provided an overview of the mechanisms of the disease itself, while Kimberley Barr, a genetic counselor provided “An Interactive Genetic Counseling Session: What You Always Wanted To Know About The Genetics Of XLH.”

I shared a presentation on Global Genes’ programs including our educational toolkits, webinars and our RareMed Forums, that help educate medical students and residents on rare diseases and how to more effectively support patients and families through more efficient referrals and dissemination of specialist knowledge.

Women living with XLH face particular challenges – not only is the disease passed from a father with XLH to all of his daughters, but those daughters then face the 50/50 possibility of passing the disease on to their children. Women are also challenged physically and hormonally in ways that are not yet fully understood during puberty and menopause. The decision on whether or not to have children and the subsequent need for specialized OBGYN support were all topics of discussion– as was the guilt and depression carried by Moms who have passed XLH on to their kids.

Dental issues are also challenging for the XLH community as the disease causes thin enamel and dentin that can result in frequent occurrence of abscesses and the need for ongoing and expensive dental treatment. There was agreement that while the medical community needs to be educated on XLH, the dental community is even less informed.

While the adults shared their experiences, the kids were busy creating art and T-shirts to support each other, celebrate new friendships and have some fun in the California sunshine!

Saturday was Ultragenyx Family Day with fun activities for all family members impacted by rare diseases. Kids got to enjoy a bounce house, face paint, temporary tattoos and the immensely popular video game truck!

Thank you to the XLH Network, Ultragenyx and Kyowa Kirin for an informative and inspiring two days!

Want to learn more about the XLH event? Presentations from Friday were live streamed and details of the event are available on the XLH Day’s website here.

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