DC2001 Update
Date: October, 12, 2001
By: Elaine Jacobson

Washinton DC- Last summer we spontaneously started to have little get-togethers.

We have come to call the summer Washington, DC get-together the `Annual East Coast Meeting', and this year's short name for it is DC2001.

This year we had a two-day meeting, August 11 and 12, 2001. The first day the attendees met in Baltimore, Maryland at Johns Hopkins Hospital. Baltimore that day was a traffic nightmare! There was a baseball game, a football game, some sort of festival on the waterfront (the `Inner Harbour'), and, to add to the excitement, exploding manhole covers.

We had to start a bit late, but everyone expected made it. Thanks, everyone! 18 people from 9 families were there, 11 with XLH. Attendees came from as far away as Vermont. Many of us were meeting each other for the first time, and for some this event marked the first time they had met others with their disorder outside of their own families. And I'm sure I made everyone's day by being the shortest person there! (Besides the little ones, of course. They'll soon catch up to me.)

Besides all the fun we had meeting, talking, and having snacks and drinks together, the highlight that first day was hearing a nearly full-day lecture on XLH presented by Dr. Suzanne Jan de Beur of Johns Hopkins University.

Topics included:

• XLH Basics Genetics Signs/diagnosis
• What is going wrong with bone formation in XLH?
• Treatment XLH and Osteoporosis Differences - compare what is going wrong with bone in each
• Diagnosis of osteoporosis in XLH patients
• Treatment of osteoporosis in XLH patients
• Current XLH Research Background
• Other work
• New Hopkins study

Some comments from attendees:

`I learned more about my disease in just one day than I have in over 40 years',

`What I found most helpful at our DC meeting, was the great review of the genetics of the disorder, specifically what is amiss on the gene level, learning more about the identification and the role of the PHEX gene.' Randy Jacobs

`Dr. Suzanne Jan de Beur presented a genetic profile of "our" disease in a comprehensible form. Kudos to her for answering each and every inquiry presented to her in a benevolent forum.' Sandi Einsla

Everyone loved Dr. Jan de Beur:

`Dr. Jan de Beur is a gem!' Randy Jacobs

`Dr. Jan de Beur was a wonderful speaker ...' Karen Dorman

`... it was a wonderful and lasting feeling to meet the personality behind the name.' Sandi Einsla

`What a personable, intelligent, down-to-earth, unassuming, friendly, helpful, accommodating person she is!!' Joan Reed

All in all, we just enjoyed the day beyond our expectations. Many folks stayed at the same hotel, and were able to meet, talk, and enjoy meals together throughout the two days.

On Sunday afternoon, we met at Grace's Fortune Chinese Restaurant. We talked for many more hours, enjoyed a great Chinese food buffet, and got to see (once again for those who attended last year) their great bathrooms! It was just great to meet, talk, have fun, and learn with everyone! This was the first time we have combined people/family support and science at the same meeting, and it was a great success! Photos were taken and will be posted in the members Web Space as soon as possible.

So get ready for DC2002!

Last modified Aug 8, 2007

XLH is also known as X-Linked Hypophosphatemia (sometimes also spelled as hypophosphataemia), X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets (VDRR) Rickets and even Genetic Rickets. Its notable characteristics are bowed legs, short stature, poor teeth formation causing spotaneous dental abscesses, and low blood phosphorus levels.

© 2002-2007, The XLH Network Inc.
The authors of this web site are not medical professionals, and this information does not substitute for medical care. Information on these pages is based on biomedical research, published in peer-reviewed journals, and international research conferences. Additionally, in some cases anecdotal information is provided by subscribers of the F-HYPDRR group, a mailing list for The XLH Network Inc. A complete web-site bibliography is available. Please read our full disclaimer.