Barth Syndrome Journal www.barthsyndrome.org Volume 11, Issue 2 Winter 2011 Saving lives through education, advances in treatment, and fi nding a cure for Barth syndrome. Great News about Barth Syndrome Individuals' Longevity By Kate McCurdy, Board Member, Barth Syndrome Foundation or several years, the Barth Syndrome Foundation (BSF) has made the claim that individuals with Barth syndrome (BTHS) are living far longer than ever before. Now we are delighted Fto have the data to prove it. All of our collective efforts ARE making a difference! Photo courtesy of Amanda Clark ~ 2010 BSF was incorporated back in 2000, and by the end of that year, we had 41 living boys in our group who had been diagnosed with BTHS (see Graph #1 on page 4). As the literature indicated Inside this Issue then, most BTHS individuals died very young, and, indeed, you can see that fewer than 10% BTHS Longevity 1 / 4 of those we knew living then were over 15 years old. That year, however, the oldest BTHS 2012 Conference 1 / 5 individual in the world of whom we were aware was in his forties, and that gave us great hope. Sci/Med Sessions Letter from the Chairman 2 Compare these fi gures to the similar ones today (see Graph #2 on page 4). Our organization Letter from the 3 has grown to include 148 individuals from around the world living with a genetically confi rmed Executive Director diagnosis of BTHS. Now, more than 35% are older than 15 years old. Furthermore, the oldest Family Sessions 6 man living with BTHS whom we know of now is in his sixties! (Cont’d on page 4) 2012 Conference 7 Agenda Science Corner 8 A Continuum of Collaboration Sensory-Based Issues 9 & Barth Syndrome Barth Syndrome 2012 Scientific and Medical Sessions BTHS Library 10 Research Initiatives 11-12 By Matthew J. Toth, PhD, Science Director, Barth Syndrome Foundation Relevant to BTHS BSF Family 13-14 ost attendees of the Barth Syndrome Foundation Outreaches (BSF) International Scientific, Medical & Family Focus on Volunteers 15-16 MConferences are not aware of how the Scientifi c and BSF Development 17-20 Medical Sessions (SciMed) are put together, so I would like to take this opportunity to explain about this important part of Barth Syndrome Trust 21-26 (UK & Europe) our Conference. From the very beginning, these biennial BSF- sponsored conferences have combined the families with the BSF of Canada 27-31 physicians and scientists who all want to fi nd a better future Barth France 32-35 for Barth syndrome (BTHS) individuals. As the Conferences Our Donors 36-39 have grown in size, the number of physicians and researchers BTHS Description 40 wanting to attend these Conferences has grown as well. There is little doubt that the success of the BSF Research Grant Program encouraged a lot of this growth, particularly among Photo courtesy of Don CeSar Hotel the scientists for whom the Conference has become a prime Venue of BSF's 2012 Conference opportunity to communicate the results of their research. The BSF is a proud member 2012 SciMed sessions of the Conference will be no different of the and will continue with the tradition of providing the most up-to-date results about scientifi c and National Health Council clinically-relevant research done on Barth syndrome. (Cont’d on page 5) ĂƌƚŚ^LJŶĚƌŽŵĞ&ŽƵŶĚĂƟŽŶ ^ĐŝĞŶƟĮĐĂŶĚDĞĚŝĐĂů Letter from the Chairman Advisory Board By Stephen B. McCurdy, Chairman, Barth Syndrome Foundation Michael Schlame, MD, Chairman Cell Biology & Anesthesiology NYU School of Medicine he Barth Syndrome Foundation (BSF) Board of Directors is thrilled to announce New York, New York the appointment of Lindsay Groff as Executive Director. Lindsay brings a variety RI H[SHULHQFH WR %6) LQFOXGLQJ QRQSUR¿W PDQDJHPHQW FRQIHUHQFH SODQQLQJ Peter G. Barth, MD, PhD, Emeritus T marketing, and the perspective of a parent advocate associated with the Children’s Pediatric Neurology ;ƌĞƟƌĞĚͿ Emma Children’s Hospital / AMC Hospital of Philadelphia (CHOP). We spent months searching for the right person and Amsterdam, The Netherlands are delighted to have found Lindsay. She offers just the right combination of a strong SURIHVVLRQDOEDFNJURXQGDQGDVHQVLWLYLW\DQGXQGHUVWDQGLQJWKDWFRPHVIURP¿UVWKDQG Barry J. Byrne, MD, PhD experience as the parent of a child who had a major health challenge. Pediatric Cardiology Shands Children’s Hospital University of Florida Lindsay holds a Masters in Business Administration Gainesville, Florida from Rowan University, as well as a Bachelors degree in Marketing and E-Commerce Technology from Rutgers Gerald F. Cox, MD, PhD University. She and her family live in New Jersey, just ůŝŶŝĐĂů'ĞŶĞƟĐƐ Children’s Hospital outside of Philadelphia. ŽƐƚŽŶ͕DĂƐƐĂĐŚƵƐĞƩƐ Clinical Research, Genzyme Corp. Lindsay assumed her new position on October 24, 2011, ĂŵďƌŝĚŐĞ͕DĂƐƐĂĐŚƵƐĞƩƐ overseeing and coordinating the work of the BSF staff, including Shelley Bowen, Director of Family Services and Iris L. Gonzalez, PhD DŽůĞĐƵůĂƌŝĂŐŶŽƐƟĐƐ>Ăď;ƌĞƟƌĞĚͿ $ZDUHQHVV /\QGD 6HGH¿DQ ([HFXWLYH $VVLVWDQW DQG 'U A. I. duPont Hospital for Children Matt Toth, Science Director. Lindsay will serve on the Board of Wilmington, Delaware Directors as an H[RI¿FLRRI¿FHU Miriam L. Greenberg, PhD Biological Sciences The Barth Syndrome Foundation Board of Directors is also Wayne State University very pleased to announce its newest Board member — Dr. Detroit, Michigan David Axelrod. Dr. Axelrod is a Pediatric Cardiologist at the Lucile Packard Children´s Hospital at Stanford, in Palo Alto, Grant M. Hatch, PhD California. He graduated from Dartmouth College in 1998 Lipid Lipoprotein Research University of Manitoba and received his M.D. from Ohio State University College Winnipeg, Canada of Medicine in 2002. Dr. Axelrod completed his internship and residency in Pediatrics at the University of California Richard I. Kelley, MD, PhD in San Francisco and completed his fellowship training in Division of Metabolism <ĞŶŶĞĚLJ<ƌŝĞŐĞƌ/ŶƐƟƚƵƚĞ cardiology (2009) and intensive care (2011) at Stanford. Johns Hopkins University ĂůƟŵŽƌĞ͕DĂƌLJůĂŶĚ Although Dr. Axelrod had heard of Barth syndrome earlier, he became more fully aware of Barth syndrome through meeting Shelley Bowen at a medical conference in 2008, Colin G. Steward, FRCP, FRCPCH, PhD and shortly thereafter he helped diagnose and care for a Barth patient in California. His Pediatric Hematology Royal Hospital for Children family´s involvement with BSF dates back to 2002 when his then future wife served as a Bristol, England YROXQWHHUDWWKH¿UVWRI¿FLDO%6)&RQIHUHQFHDW-RKQV+RSNLQVLQ%DOWLPRUH :ĞīƌĞLJ͘dŽǁďŝŶ͕D Dr. Axelrod brings the insight of a practicing Pediatric Cardiologist, the personal and Pediatric Cardiology ŝŶĐŝŶŶĂƟŚŝůĚƌĞŶ͛Ɛ,ŽƐƉŝƚĂů professional experience of one who has cared for a Barth syndrome patient and who ŝŶĐŝŶŶĂƟ͕KŚŝŽ holds an important position in a major California teaching hospital to the Board. His LQWHUHVWLQDQGGHGLFDWLRQWRRXUPLVVLRQKDVEHHQFOHDUIURPRXU¿UVWPHHWLQJDQGKHLV Ronald J. A. Wanders, PhD HDJHUWRKHOSXVLPSURYHDZDUHQHVVZLWKLQWKHPHGLFDOFRPPXQLW\DQG¿QGPRUHIDPLOLHV 'ĞŶĞƟĐDĞƚĂďŽůŝĐŝƐĞĂƐĞƐ on the West Coast. Academic Medical Center Amsterdam, The Netherlands Dr. Axelrod´s term will run through April of 2015. Katherine R. McCurdy - ĞdžͲŽĸĐŝŽ Board of Directors I know that I speak for the entire Board of Directors in welcoming Lindsay and David to ĂƌƚŚ^LJŶĚƌŽŵĞ&ŽƵŶĚĂƟŽŶ͕/ŶĐ͘ our Board and into our small but strong and growing community. We are glad to have you DĂƩŚĞǁ:͘dŽƚŚ͕WŚͲĞdžͲŽĸĐŝŽ both working with us! Science Director ĂƌƚŚ^LJŶĚƌŽŵĞ&ŽƵŶĚĂƟŽŶ͕/ŶĐ͘ ͲŵĂŝů͗ŵĂƩŚĞǁ͘ƚŽƚŚΛďĂƌƚŚƐLJŶĚƌŽŵĞ͘ŽƌŐ ^ŬLJƉĞEĂŵĞ͗ŵĂƩͺďƐĨ (Photos courtesy of Lindsay Groff and Dr. David Axelrod ~ 2011) Page 2 Barth Syndrome Journal ~ Volume 11, Issue 2 ĂƌƚŚ^LJŶĚƌŽŵĞ&ŽƵŶĚĂƟŽŶ͕/ŶĐ͘ W͘K͘Ždžϲϭϴ Letter from the Executive Director >ĂƌĐŚŵŽŶƚ͕EĞǁzŽƌŬϭϬϱϯϴ dĞůĞƉŚŽŶĞ͗;ϴϱϬͿϮϮϯͲϭϭϮϴ By Lindsay B. Groff, MBA, Executive Director, Barth Syndrome Foundation &ĂƐĐŝŵŝůĞ͗;ϱϭϴͿϮϭϯͲϰϬϲϭ ͲŵĂŝů͗ďƐĮŶĨŽΛďĂƌƚŚƐLJŶĚƌŽŵĞ͘ŽƌŐ Website: www.barthsyndrome.org rom the moment I read the job description, I was interested in learning more about the Board of Directors Stephen B. McCurdy, Chairman Barth Syndrome Foundation (BSF). Every >ŝŶĚƐĂLJ͘'ƌŽī͕džĞĐƵƟǀĞŝƌĞĐƚŽƌ͕ĞdžͲŽĸĐŝŽ F David Axelrod, MD, Board Member line on that two-page document appeared carefully Randy Buddemeyer, Treasurer crafted with much thought put behind each word. Michaela Damin, Board Member I sensed this organization had accomplished Stephen Kugelmann, Board Member great things, and I wanted to know more. The Susan A. McCormack, Board Member Katherine R. McCurdy, Board Member instant I started doing the background research in ^ƵƐĂŶ^͘KƐŶŽƐ͕ŽĂƌĚDĞŵďĞƌ order to prepare for the interview process, I was Marcus E. Sernel, Corporate Secretary John Wilkins, Board Member captivated by an organization that has come such Susan V. Wilkins, Board Member a long way in a short time and has done so much džĞĐƵƟǀĞ^ƚĂī with so little. I read the articles in the newsletters >ŝŶĚƐĂLJ͘'ƌŽī͕džĞĐƵƟǀĞŝƌĞĐƚŽƌ Valerie M. Bowen, Family Services/Awareness detailing the amazing advancements made in DĂƩŚĞǁ:͘dŽƚŚ͕WŚ͕^ĐŝĞŶĐĞŝƌĞĐƚŽƌ research, new ideas for treatments, and heartfelt >LJŶĚĂD͘^ĞĚĞĮĂŶ͕džĞĐƵƟǀĞƐƐŝƐƚĂŶƚ stories from families all over the world. I cheered ¥¥®½®ãÝ while reading about the achievements, and I cried Barth Syndrome Trust ;h<ΘƵƌŽƉĞͿ with the stories about those who have suffered. ϭdŚĞsŝŬŝŶŐƐ Romsey Hampshire Lindsay with her daughter, Charlotte When I received the offer to join the team, I felt ^ϬϱϭϱZ' (Photo courtesy of Lindsay Groff ~ 2011) United Kingdom honored and excited. I feel that my background