Team Telomere, Inc.
A Community of Telomere Biology Disorders
Our mission is to provide information and support services to families worldwide affected by Dyskeratosis Congenita and Telomere Biology Disorders, to encourage the medical community’s research in finding causes and effective treatments, and to facilitate improved diagnosis by educating medical providers.
“You can’t do anything about the length of your life, but you can do something about its width and depth.”
President & Chair of Governance and Nomination Committee
Bruce has been involved with Team Telomere since 2010 as a parent and now as a Board member. He lives with his wife, Pattie and their two children Noah and Katie in West Chester, Pennsylvania. The Friedman’s lost their oldest son Josh to DC in 2011 at the age of seventeen. Since Josh’s passing, Bruce has worked with Team Telomere as a consultant as he assisted them with the development and implementation of their strategic plan. He has served as a Board member since 2017. In addition to working with Team Telomere, Bruce works as the Executive Director of Finance at The University of Pennsylvania’s Business Services Division, serves as a faculty assistant in Penn’s Organizational Dynamics program, works with other rare disease organizations as a coach and consultant and serves on the board of Bourenlyf Special Camp. He enjoys cycling, Philadelphia sports and spending time with his family.
John Marcone lives in Canton, MA with his wife, Susan and three children, Nicole, JC and Matty. He has been in the commercial roofing business in Boston for many years and serves on many roofing industry boards. He got involved with Team Telomere following the diagnosis of his son Matty five years ago and the passing of Susan’s brother. He has been involved in many fundraising events and looks forward to using his skills and experiences to benefit Team Telomere. He is an avid Boston sports fan, enjoys golf and playing hockey.
Emily Dziedzic lives in Portland, Maine and was elected to the board in December 2016. She moved into the Secretary role in December 2017 and is active on Team Telomere and Development Committees. She is a licensed Private Pilot, with a Bachelor’s and Master’s degree in Aviation Management. After a 10 year career in the aviation industry, Emily left the field to pursue a career in wellness. She is currently a Licensed Massage Therapist and Craniosacral Therapist with her own practice in Portland, Maine. Emily has been volunteering at Camp Sunshine since 2001 and she fell in love with the Team Telomere community while volunteering during the 2014 and 2016 DC sessions at Camp. Eager to help support the mission of DCO, she started by sending care packages and is now involved at the executive board level.
Board Member & Chair of Development Committee
Steve Seifried comes to Team Telomere through a 20-year friendship with Bruce and Patty Friedman. Steve resides in the Philadelphia area with his wife Dawn and two college-age children Steven Jr. and Elizabeth. As a sales manager in the Pharmaceutical and Medical Device industries, Steve hopes to utilize his experience in these areas to continue to build upon Team Telomere’s fundraising achievements. He is excited to work with everyone in the Team Telomere community to support past successes and to develop and implement new fundraising opportunities as well as overall awareness of our mission. Other passions include Music, Pittsburgh Sports, Golf, and Fly-Fishing.
Board Member & Chair of Communications Committee
Dena Paffas joined the Team Telomere team in September of 2017 to help focus the communication initiatives of the organization. She received her Bachelor’s Degree in Speech and Communications from Millersville University in 2013, and is currently working on her Master’s Degree from the University of Pennsylvania in Organizational Dynamics. Dena holds the position as Administrative Coordinator for the Dermatology department within the University of Pennsylvania’s School of Medicine, and resides in West Chester, PA. She is an avid reader and enjoys spending free time with her family and friends.
Chantel M. Scheiffer
Board MemberChantel McCormick Schieffer resides in Bozeman, Montana with her husband Dax and their son Dax Michael. The trio enjoy many outdoor adventures and an exciting life together. In 2016, Dax Michael was diagnosed with Dyskertosis Congenita and received a bone marrow transplant at Seattle Children’s hospital in the summer of 2017.
Chantel’s most important role is that of mother and advocate for children with disabilities and rare diseases. She is the author of Daxapalooza, a blog which chronicles Dax Michael’s medical journey, and is a contributing writer to The Mighty. Professionally, Chantel is the President/CEO of Leadership Montana, the premier leadership development organization in the state. She has spent more than two decades cultivating an exciting career in public relations, fund development, and public service. Chantel has worked with many elected officials on local, state and federal levels and has directed several nonprofit organizations toward fundraising success.
Board Member & Chair of Outreach CommitteeEric Villeneuve graduated with a degree in Criminology and Criminal Justice in December of 2015 from the University of South Carolina. There, he was first introduced to public health while working for Be the Match, an organization which operates the National Bone Marrow Donor registry. It was this experience which prompted Eric to pursue a Master’s in Public Health rather than a life in law enforcement. He is now a student at the University of Pennsylvania and is set to graduate in May of 2018. Upon graduation, Eric will be heading back to the Raleigh-Durham, NC area in hopes of pursuing a career in project management, specifically related to public health programs.
Education LiaisonMaggie Rowe, LICSW, CCLS, is a clinical Social Worker and Child Life Specialist in Spokane, WA. She is currently serving as the program coordinator and hospital-school liaison for the Andrew Rypien School, an education program within Sacred Heart Children’s Hospital. Maggie has worked as a Recreation Therapist, Child Life Specialist, and Social Worker for children with various chronic illnesses, disabilities, or injuries since 2003, and more specifically children with hematology/oncology diagnoses since 2010. As an Education Liaison, Maggie looks forward to helping you find the right type of education support for your child in your home community.
Attorney & Member of the Governance and Nomination CommitteeKevin is an attorney with Berney & Sang, a Philadelphia law firm. He focuses his practice on appeals, education law, and employment law.
Kevin, who grew up in Jacksonville, Florida, earned his Juris Doctor cum laude from Harvard Law School in 2013, where he served as a general board member of the Harvard Civil Rights-Civil Liberties Law Review and as a co-chair of the Mississippi Delta Project. In his free time, Kevin serves as the President of the Tampa Lawyer Chapter of the American Constitution Society, volunteers as a mentor at Lockhart Elementary Magnet School, and serves as a Commissioner with the Strong Families Commission. He also regularly publishes law review articles and op-eds on topics ranging from special education to the Fourth Amendment. Kevin’s background and experiences related to helping those with disabilities are a great asset to the DCO team.
Board of Medical Advisors
Sharon A. Savage
MAB and Chair of Medical Advisory BoardDr. Sharon A. Savage is the Chief of the Clinical Genetics Branch in the Division of Cancer Epidemiology and Genetics at the National Cancer Institute (NCI). She leads clinical, genetic, and epidemiologic studies of individuals and families at high risk of cancer. Her comprehensive approach
combines genomics with clinical genetics and molecular biology to improve understanding of cancer etiology and the lives of patients with complex cancer-prone disorders. Dr. Savage leads the NCI’s clinical and genetic study of Li-Fraumeni syndrome (LFS), a highly penetrant cancer susceptibility
syndrome often caused by germline mutations in TP53, that is evaluating pediatric and adult cancer-screening regimens and studying the underlying molecular biology of LFS. Dr. Savage’s research program in telomere molecular epidemiology incorporates population-based studies of telomere length and disease with genetic studies of telomere biology. Dyskeratosis Congenita (DC), cancer-prone inherited bone marrow failure syndrome, is caused by germline mutations in telomere biology genes. To date, Dr. Savage has discovered four genetic causes of DC. This work has formed the basis for numerous basic science studies of the function of telomere biology genes. Her clinical studies of DC have led to improvements in the diagnosis of DC and seek to advance understanding of the clinical complications of DC and the related telomere biology disorders.
MD, PhDDr. Jakub Tolar is Dean of the University of Minnesota Medical School and Vice President ad interim for Health Sciences. A pediatric blood and marrow transplant physician whose life work centers on helping children with devastating genetic disorders, Dr. Tolar is a clinician-researcher whose efforts span both the clinic and the laboratory. He is known for his ground-breaking use of bone marrow transplant to treat Dyskeratosis Congenita. His laboratory is currently working with state-of-the-art gene-editing technologies to repair genetic errors in a patient’s own cells and use the corrected cells for transplant and other therapies. Tolar is a Distinguished McKnight Professor and co-chairs Regenerative Medicine Minnesota, a state-supported program funding research, biotechnology, and education to support development of regenerative medicine infrastructure in the state.
Dr. Olson’s career is dedicated to clinical care for patients with acquired and inherited bone marrow failure syndromes, and conducting basic, translational, and clinical research investigating disease mechanisms and methods to improve treatment for these patients. He is an Assistant Professor of Pediatrics at the University of Pennsylvania (UPENN), a Director of The Children’s Hospital of Philadelphia (CHOP)/UPENN Comprehensive BMF Center (CBMFC), and an Attending Physician in the Blood and Marrow Transplant Program at CHOP. He is a member of the Clinical Care Consortium for Telomere Associated Ailments and an Advisory Board member for Dyskeratosis Congenita Outreach, Inc. He is the primary Principal Investigator for two prospective institutionally supported clinical trials assessing novel approaches to conditioning and graft engineering for pediatric patients undergoing hematopoietic stem cell transplantation (HSCT) for BMF (NCT02928991 and NCT03047746). He is also site Principal Investigator at CHOP for several multi-institutional clinical HSCT trials, including Dr. Suneet Agarwal’s multi-center study investigating radiation- and alkylator-free conditioning for patients with Dyskeratosis Congenita.
His laboratory’s basic research is focused on using murine HSCT models to investigate molecular mechanisms governing hematopoietic stem cell engraftment within stem cell niches in the context of BMF, with the long-term goal of devising novel, less-toxic methods to ensure durable engraftment after HSCT. His translational research focus is investigating genetic and molecular pathogenesis, hematopoietic clonal evolution, and prognostic factors influencing the development of myelodysplasia and response to therapy in patients with acquired and inherited BMF. To support these efforts, he is Principal Investigator for the CHOP IRB-approved, BMF Patient Registry and Sample Repository, which contains a large collection of samples from over 600 pediatric and adult patients with BMF.
Rodrigo T. Calado
MD, PhDDr. Rodrigo T. Calado received his MD in 1997 and his PhD in 2003 both from the University of Sao Paulo, Brazil. He received his postdoctoral training in hematology at the National Heart, Lung, and Blood Institute, National Institutes of Heath, Bethesda, Maryland, where he also worked as Staff Scientist. His main research focus is in hematopoietic stem cell failure, including inherited and acquired aplastic anemia. Dr. Calado has helped to characterize the molecular genetics of telomeropathies and acquired aplastic anemia and developed novel therapies for these disorders.
He is currently Scientific Director of the Ribeirao Preto Blood Bank, and Head of the Hematology Laboratory, University of Sao Paulo, Brazil.
MD, PhDDr. Agarwal completed his M.D. and Ph.D. training at Harvard Medical School. He carried out pediatric hematology/oncology clinical training at the Dana-Farber Cancer Institute and Boston Children’s Hospital, where he also did postdoctoral research in stem cell biology. Dr. Agarwal is currently Assistant Professor in Pediatrics at Harvard Medical School, Principal Faculty at the Harvard Stem Cell Institute and Harvard Initiative in RNA Medicine, and Staff Physician in Hematopoietic Cell Transplantation at the Dana-Farber / Boston Children’s Cancer and Blood Disorders Center. Dr. Agarwal’s research is focused on the mechanisms and therapy of genetic blood diseases. With colleagues, he initiated the Clinical Care Consortium for Telomere Associated Ailments (CCCTAA) in 2013. He leads a multi-center bone marrow transplant clinical trial for patients with DC and telomere diseases. His lab is working on new treatments for telomere diseases. He has served as a Medical Advisor for Dyskeratosis Congenita Outreach since 2011.
MD, PhDDr. Bertuch is an associate professor of both pediatrics and molecular and human genetics at Baylor College of Medicine in Houston, Texas. She also directs the Bone Marrow Failure Program at Texas Children’s Cancer and Hematology Centers. She is a member of the Telomere Biology and Cancer Genomics Program and her research focuses on the mechanisms of telomere structure and function.
F. Brad Johnson
MD, PhDBrad Johnson is a professor in the Department of Pathology and Laboratory Medicine in the Perelman School of Medicine at the University of Pennsylvania. He earned his MD and a PhD in biochemistry from Stanford University, and completed a clinical residency at Brigham and Women’s Hospital and postdoctoral research at MIT. Dr. Johnson’s laboratory investigates the biology of telomeres, how they are maintained, and how enhancing these natural mechanisms may help ameliorate diseases caused by dysfunctional telomeres. He also serves as Assistant Director of the Clinical Immunology Laboratory at the Hospital of the University of Pennsylvania, where his expertise is in transplant-related testing, and as Associate Director of the Penn Institute on Aging. He is an editorial board member at Mechanisms of Ageing and Development, at Frontiers of Genetics (Aging), and at Aging Cell, and served as chair of the NIH Cellular Mechanisms of Aging and Development Study Section. He begins he service on the Dyskeratosis Congenita Outreach Medical Advisory Board in 2018.
MS, CGCMs. Carr completed her M.S. in Human Genetics/Genetic Counseling at Rutgers University. She is Board Certified by the American College of Medical Genetics and the American Board of Genetic Counseling. Ms. Carr has worked as a genetic counselor contracted to the Clinical Genetics Branch of the National Cancer Institute (NCI) for 16 years. During that time, she has provided genetic counseling services to families as part of the NCI’s Inherited Bone Marrow Failure Syndrome and multiple other cancer studies. Ms. Carr’s previous genetic counseling experience includes pediatric and prenatal positions; she has also worked in cytogenetics laboratories. She enjoys integrating her various genetic counseling and laboratory experiences when speaking with individuals and families with Dyskeratosis Congenita. Ms. Carr is a member of the National Society of Genetic Counselors and their Cancer and Pediatric Cancer Special Interest Groups.
Pacific Global AmbassadorHello. My name is Megan Stephens and I am excited join Team Telomere as the Pacific Global Ambassador. I live in beautiful Nelson, New Zealand with my husband and three children Ruby (12), Lachlan (10) and Gabrielle (8), and I am here to help support those living with living with Dyskeratosis Congenita and other telomere biology disorders in this part of the world. I am available to chat when you need to, and to connect you with the best international resources available. In my day job am a Business Services Marketing/Administrator for a global company with over 22,000 employees, so I am familiar with collaborating in an international capacity.
Gabrielle (Gabby), was diagnosed with Dyskeratosis Congenita in January 2015. Gabby was born with IUGR and was always a sickly toddler and we were constantly at the doctors for something, although we never imagined that she had anything seriously wrong. On 19 November 2014 we took four-year-old Gabby to the doctor as she was bruising more and more easily, and her skin tone was yellow. After being tested initially for Leukaemia she was diagnosed at with Severe Aplastic Anaemia and we were told she would need a bone marrow transplant soon. The further diagnosis of Dyskeratosis Congenita followed six weeks after. Gabby has the TINF2 gene mutation and is considered to have a severe form of the disease.
Gabby had her bone marrow transplant just a few weeks after her fifth birthday, in July 2015 at Starship Children’s Hospital in Auckland, New Zealand. Her brother, Lachlan, was her bone marrow donor – he was just seven-years-old at the time.
Despite her many health and physical challenges Gabby is a very active girl who doesn’t let anything stop her from what she wants to do. She goes to school full time, loves going to Brownies (Girl Guides) and gym. She is extremely determined and has a real zest for life. She is a kid with spunk! For the most part we think we live a ‘normal’ life, or maybe we have forgotten what the real ‘normal’ is like.
I have received amazing support from DCO, even though we are on the other side of the world! I am extremely passionate about wanting to provide peer support to others in the Pacific region. So please don’t be shy and reach out to me at any time.
Pacific Global AmbassadorHello, I’m Rachel Little from Queensland, Australia.
I have been a photographer and an early childhood educator, but my most passionate role is being a wife and mother of two boys. Cooper is our angel, watching over from above, and Grayson (1yo) is our warrior on earth, diagnosed with Hoyerall-Hreidarsson Syndrome.
Being so rare, I dove head first into study to understand it all as best as I could, considering all of our doctors had barely (some never) heard about DC or HHS before. I felt I had to understand it all, incase they didn’t – for my sons sake!
I was pleasantly surprised, and relieved, to find myself welcomed into the village of DCO and Team Telomeres!
Grayson has two TERT gene mutations, one each passed on from myself and my husband, Leighton. We still can’t fathom the odds of us both having the same gene mutation, but I guess it means we were meant to be together! We are still unsure of the implications this will have on ourselves being a carrier, but for now our priority is getting Grayson through his Bone Marrow Transplant.
I am so excited to join Team Telomere to help spread awareness, fundraise for research and connect with families effected by DC/TBD.
I am passionate about getting the global awareness needed to fund more research into telomere studies and find our warriors a cure!
UK Global AmbassadorMy name is Claire Brookes, I live in Portsmouth in the south of England.I am really excited to be a part of Team Telomere as a Global Ambassador. I live with my husband, son and daughter, and work as a pre school practitioner. My son Jayden was diagnosed with dc when he was 3 years old after he presented with low blood counts at 20 months old. Jayden had a bmt in 2012 aged 8. He is now 14 and doing really well.
I am looking forward to working with fellow UK families and letting them know they are never alone in this journey.
UK Global AmbassadorJacquie Roskell is from Lancashire in the north of England. She lives with her husband Shaun, son Woody (8), daughter Phoebe (5) & chocolate Labrador Denzel (3). Phoebe was diagnosed with DC in July 2017 after becoming unwell with bone marrow failure in May of the same year. Phoebe had a successful bone marrow transplant at The Royal Manchester Children’s Hospital in December and her brother Woody was her donor.
Jacquie contacted DCO soon after Phoebe’s diagnosis after a google and Facebook search. Jacquie says ‘it quickly became apparent that the specialist knowledge of this rare disease wasn’t available to us and after being given the news we were left feeling isolated and alone’. Jacquie’s mission is to ensure no one in the U.K. ever has to feel like she and her husband did after Phoebe’s diagnosis.
Dr. Rodrigo T. Calado
South America Medical Advisor
Western Region Ambassador & Legacy co-ChairColleen Verkaik lives in Northern California with her strong, supportive, and amazing husband, Michael. She is and will always be a mother to two beautiful boys, Ryan and Tyler, who fought with every ounce of strength they had and lived bravely, boldly and courageously during the time they were given here on earth. Both boys were diagnosed very young with Dyskeratosis Congenita (Hoyeraal-Hreidarsson syndrome). Tyler passed away in 2007 at the age of 2 1/2 after complications from his BMT. Ryan had a successful BMT in 2013, but passed away in 2017 at the age of 14 after lung complications presented and the fight became too big. While she will always live with a broken heart, Colleen has chosen to honor her boys by connecting with others in the DC/TBD community and walking alongside others who are bravely battling.
MD, German Medical AdvisorHerr Prof. Dr. med. Christian Kratz wurde in Neuss bei Düsseldorf geboren. Er studierte Humanmedizin in Bochum, Düsseldorf und Johannesburg. Seine Ausbildung zum Kinderarzt erhielt er an der Kinderklinik der Heinrich-Heine-Universität in Düsseldorf. Im Jahre 1999 wurde er mit einem Stipendium der Mildred-Scheel-Stiftung zur Durchführung eines zweijährigen Forschungsprojektes über Leukämien an der Universität von Kalifornien in San Francisco ausgezeichnet.
Seine Ausbildung zum Kinderonkologen erhielt Herr Prof. Kratz an der Albert-Ludwigs-Universität Freiburg, wo er habilitierte und zum Oberarzt ernannt wurde. Es folgten Tätigkeiten in Wellington, Neuseeland und am National Cancer Instistute in Bethesda, Maryland, USA. Im Jahre 2012 erhielt er den Ruf auf die W3-Professur für Pädiatrische Hämatologie und Onkologie an der MHH. Sein Forschungsschwerpunkt liegt im Bereich der Erforschung von Krebsursachen bei Kindern. Insbesondere setzt er sich in seinen klinischen Tätigkeiten und auch in seiner Forschung für Menschen mit einem erhöhten Krebsrisiko ein, wie für Menschen mit Dyskeratosis congenita.
Canada Global AmbassadorAmy Pilon lives in Saskatchewan, Canada. She was diagnosed with Aplastic Anemia and underwent heart surgery in 2004 at the age of 7. Medical issues persisted and Amy spent many years doctoring off and on between Saskatchewan and Alberta before she was finally diagnosed with DC in 2012. There were very few resources available at the time as the disease was still quite new to medical professionals. DC is something that has effected generations of Amy’s family without their knowledge prior to her diagnosis, mainly in the form of Pulmonary Fibrosis. This has led Amy and her family to advocate strongly for organ donor awareness within Canada and worldwide through the creation of the Karen Pilon Organ Donor Awareness Foundation. In her spare time, Amy is a competitive 5-pin bowler, enjoys live music and is currently working towards her BBA, Marketing at the University of Regina. Amy would like to help anyone effected by a DC diagnosis as she understands the feelings of isolation that it can bring, especially in children. Please feel free to contact Amy anytime