I think it was in 2006, when a group of RTS families participating in clinical studies at Texas Children’s Cancer Center/Baylor College of Medicine decided to form an Awareness and Support Group for the RTS community. I remember Victoria telling me that each member signed up to raise $500 for the group so that they would have some money to help families and continue meetings in Houston.
When Victoria passed away in 2009, we honored her dream by establishing the Rothmund-Thomson Syndrome Foundation. I don’t think that the overarching goals have changed.
We have been fortunate that Dr. Wang’s team, working under an NIH grant, has developed the RTS patient registry and defined clinical diagnostic criteria for RTS. We were in Seattle last week as a result of the genetic research she has participated in resulting in the identification of RTS subgroups (Type I and Type II). She has studied the clinicopathological features of osteosarcoma in RTS patients and made treatment recommendations for oncologists. Most recently, she began studying the role of RECQL4 in skeletal development and generated a tissue-specific mouse model of RTS.
Let me take a break here to explain the differences between the RTS patient registry and that of Blooms and Werner Syndromes, who also participated in the Seattle Conference. Werner Syndrome, while a world-wide disorder, is prevalent in Japan. The Japanese government provides all funding required for the patient registry and development of clinical diagnostic criteria. Bloom Syndrome is also a world-wide disorder and their patient registry is paid for and maintained by Weill Cornell Medical College, where Bloom Syndrome was initially documented. Dr. Wang developed the RTS patient registry and clinical diagnostic criteria under a grant from the National Institute for Health.
Unfortunately, her grant ended and she is actively pursuing a new grant. In this highly competitive world, it is not a slam-dunk that she will receive a new grant. Without additional funding she will be unable to continue the patient registry and clinical diagnostic work that is so important to understanding RTS Type I and Type II. At our request, Dr. Wang identified her research needs for a year. This includes salaries, supplies, services, and travel. In order to continue to provide the services and research she provides today, Dr. Wang needs approximately $500,000 each year
The Foundation considers support to Dr. Wang’s clinical studies and maintenance of the patient registry to be our highest program service priority and we have allocated up to 50% of our budget to this cause. Right now, that represents about $25,000 per year. That is not nearly enough to ensure that she can continue to support our community. We need to grow our annual contribution to at least $200,000 per year! I will provide a breakout of individual funding requirements in subsequent postings here and on our website (www.rtsplace.org).
The Sperou family has done a great job spearheading our fundraising activities, but they cannot do it alone. Raffles and event proceeds are great, but our primary funding tool needs to be donations from families, corporate sponsors, and government grants. The last couple of years we were successful in getting donations from All State Insurance and the Catholic Foundation. We are also registered with “Benevity Causes” hoping to start receiving donations from larger corporations. We need your help to identify potential corporate sponsors.
We are still a young organization and we have made significant progress over the last 5 years. With your continued support we can build on that success and make greater inroads in meeting the needs of the RTS community. Together we can achieve great things!
John P. Kimmel