Team Telomere, Inc.

A Community for 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.

 Our vision is to see a world where every person impacted by Telomere Biology Disorders – including the affected individuals, caregivers, researchers, and clinicians – has accessible care, community, and resources, with the goal of positively changing the course of this disease, driving toward improved treatments and ultimately one day a cure.

Our Staff

Katie Stevens

Katie Stevens

Executive Director

Katie Stevens has been with Team Telomere since 2013. Katie lives in Northern Idaho with her husband, Josh, and their four children. Their oldest child was diagnosed with Aplastic Anemia when he was 11. Three months after ATG treatment his telomere lengths were tested. They came back at less than 1%. Katie and her son moved to Boston in July 2015 so that he could undergo a stem cell transplant using a protocol written for patients with short telomeres. 

In 2017 she became the president of DCO, helping to change the name to what is now known as Team Telomere. She is now Team Telomere’s first full time employee. Her role as Executive Director has taken her all over the world, helping unite those living with telomere biology disorders via outreach and funding research. Her passion is to create collaboration amongst TBD researchers, and making sure the patient’s voice is heard first. She is published in an international peer-reviewed journal, Angiogenesis, and has presented abstracts at the Cold Spring Harbor, Telomeres & Telomerase conference and the European Molecular Biology Organization (EMBO) telomere conference and was the first ever patient advocate at the Transplantation and Cellular Therapy Meetings. Outside of telomeres, Katie loves collaborating with the greater rare community, believing firmly that though we are all unique all of our rare stories carry the roadmap that will lead to cures. Katie works on the Rare Foundation Leadership Council as well as on the Board of Directors for Global Genes. Katie is NORD member leader, and a 200 hour yoga teacher. Her passion for yoga and meditation has led to yet another avenue of service teaching to caregivers, patients and the bereaved in the rare disease community via Team Telomere and Move to Advocate. Katie is helping to launch the Embracing Uncertainty study where she is constructing an online mindfulness meditation program to manage medical uncertainty that will be appraised in collaboration with various patients and interdisciplinary researchers. 

Katie’s team was recently awarded the Chan Zuckerberg Initiative Rare as One grant, which will help her organization create DEI focused efforts and COE. This will help her organization, and many rare disease organizations like hers, to serve all members of their community to the highest quality. Through Katie’s lead on these efforts, she hopes to expand the capacity and reach of her organization to pave the way for the rare disease communities to move forward toward accessible and equitable diagnostics, treatments and cures. 

“You can’t do anything about the length of your life, but you can do something about its width and depth.”

Haley Gonzalez

Haley Gonzalez

Graphic Designer

Haley is our dedicated Graphic Designer. She’s a proud native of Minnesota and graduated with her Bachelors in Creative Arts and Graphic Design at Metropolitan State University. In her free time, she likes to freelance design, listen to vinyl records, cook gourmet food, and spend time with her family. Her strong sense of intuition, creativity, and her ability to appreciate the little things in life is what got her interested in design. Her job at Team Telomere as the Graphic Designer encompasses all the those qualities to create beautiful designs for a community that matters!

Hannah Raj

Hannah Raj

Program Manager

Hannah Raj lives in the greater Chicagoland area. She became involved with Team Telomere after first-handedly learning about Telomere Biology Disorders at the start of 2020. From the very beginning of her journey, Team Telomere’s community and resources made her feel truly supported and connected. Her goal is that every person affected by Telomere Biology Disorders feels the same way. The small contributions she has made to the community thus far have been her greatest joy. Using her personal and professional experiences, she is excited to wholeheartedly and passionately serve, advocate for, and further the research for the Team Telomere community. Hannah is especially driven to supporting and connecting with young adults and children impacted by Telomere Biology Disorders. She is always a call, email, or message away from connecting with the community!

In her free time, she enjoys playing the piano and spending time with her family and friends. Hannah received her Bachelor’s Degree in Neuroscience in 2021 from the University of Illinois at Chicago, and she hopes to continue her education by pursuing a medical degree.

Our Board

Heather Kagel

Heather Kagel

President & Chair of Outreach Committee

Heather Kagel lives in Dallas Texas and has been engage with Team Telomere since 2018. Heather has a TERC gene mutation and short telomeres. She was diagnosed with Idiopathic Pulmonary Fibrosis in 2013 and Oral Squamous Cell Carcinoma in 2016. Thanks to a wonderful organ donor, she recently received a double lung transplant! Heather brings her personal experience and a passion for more education and raising awareness of these telomere biology disorders and their accompanying diseases.

Heather lives with her husband Rick and their shih-tzu Huckleberry. Her two children, Mitchell (23) and Samantha (22) are living away from home but continue to be amazing care partners and supporters. Heather enjoys travelling (especially to the beach!!), baking, and paper crafts.

Allison Kiene

Allison Kiene

Vice President & Chair of Governance and Nomination

Allison Kiene joined the board of Team Telomere in October 2019. Allison is from South Windsor, Connecticut and currently resides in Somers, New York. She has two children, Tim (28) and Caitlin (24). In 2005, Allison’s two brothers, Robert and Richard, were diagnosed with aplastic anemia secondary to Dyskeratosis Congenita and genetic testing revealed that Allison and her mom were both carriers of the disease. Robert and Richard received stem cell transplants under the care of Dr. Joseph Antin and Dana-Farber Cancer Institute. At the time, there were very few resources available to the family and limited understanding of the disease and what would come next. Initially, it appeared that Robert was “cured” only to learn shortly after the transplant that he had Pulmonary Fibrosis. In 2008, at the age of 36, Robert succumbed to the disease. Richard would carry-on earning his doctorate in organic chemistry, marrying his best friend (Ashley) and beginning his career as a college professor. Richard lived life to its fullest fighting each obstacle the disease put before him. In 2015, both Allison’s mom (71) and Richard (36) passed away from Pulmonary Fibrosis. 

Allison became a member of the Team Telomere community because she values and understands first-hand the need to support families battling Dyskeratosis Congenita and related diseases. Allison serves as Senior Vice President, Assistant General Counsel and Chief Compliance Officer for Sompo International, a global property and casualty insurance and reinsurance company. Allison is admitted to the Bar in Connecticut, Massachusetts and New York and holds pharmacy licenses in Connecticut and New York.

Jeni Colter

Jeni Colter

Secretary

Jeni Colter was previously a member of Team Telomere’s Outreach committee before joining the board in September 2019. In 2016, Her daughter, Megan, was diagnosed with DC through genetic testing revealing a novel variant on the TERT gene as well as very short telomeres. Jeni was later found to have the same variant and very short telomeres. Their family attended Camp Sunshine in 2016 and fell in love with the DC Outreach/Team Telomere community.

Her professional background is in early childhood education. She taught preschool for 12 years before leaving her position in 2019. She happily lives in Laramie, Wyoming enjoying the beauty of the mountains. She is happily married to Dr. Rob Colter, Ph.D. a faculty member in the Department of Philosophy and Religious Studies at the University of Wyoming,  In addition to Megan, she has a son , Jackson who is completing his master’s degree in Philosophy at Colorado State University. In addition to their human children, they have two spoiled rotten dogs, Athena and Ajax. One of her goals while serving on the board is to broaden the resources available to the young adult population living with DC.

 

Bruce Friedman

Bruce Friedman

Treasurer

Bruce has served on Team Telomere’s board or as a volunteer since 2010.  He and his family first learned of telomere disorders and more specifically, Dyskeratosis Congenita when their oldest son, Josh was diagnosed in 2004. Josh was eight years old when diagnosed and despite having limited treatment options and many physical and cognitive challenges, he thrived throughout his life until succumbing to this disease in 2011.  This experience has moved Bruce both professionally and personally as he has worked in the nonprofit sector for the past decade and  continues to partner with other rare disease organizations.  Bruce is the SVP of Finance and Controllership at United Way Worldwide.  He has held a number of finance leadership roles in higher education as well as for-profit utility and consumer service industries.  Bruce has been a part of the Philadelphia area finance community for the past 30+ years.  He lives in West Chester, PA with his wife, Pattie and their two young-adult children, Noah and Katie as well as their 70-pound Pit-Lab, Murry.  He enjoys his family, Philly sports and biking many miles each year and has been an active member of the University of Pennsylvania’s Orphan Disease Center Million Dollar Bike Ride, starting Team Josh & the DCO Riders (now Team Telomere) in 2014.

Bruce holds an Bachelors and MBA from Drexel University as well as a Masters in Organizational Dynamics from the University of Pennsylvania.  He has been a licensed CPA since 1992 and is a certified executive coach and organizational consultant.

Heidi Carson

Heidi Carson

Board Director & Data Collection Manager

Heidi Carson lives and works in Silicon Valley. She is connected to Team Telomere through her husband, Chad, who passed away in 2019 due to complications from a bone marrow transplant following a liver transplant that tried to address the health issues caused by his very short telomeres. Heidi is working on several projects with Team Telomere with the dream goal of helping this community develop better treatments and ultimately one day a cure for telomere biology disorders. As Team Telomere’s Data Collection Program Manager, she is currently building a platform for patients and researchers to collaborate and share data. Heidi is also happy to share her experiences navigating telomere disease as a primary caregiver – please feel free to reach out. Heidi lives with her two teenage children and their rescue dog and enjoys traveling, yoga, and learning languages.

Nicole Bjerke

Nicole Bjerke

Board Director

Nicole lives in southern Minnesota has been a part of the DC community since the very beginning in 2008. She has been married to Logan for 24 years. She has two children, Rilee and Jordyn, and came to this community because of her daughter Rilee. Rilee was affected by DC and had a successful BMT in 2003 at the age of 3. In 2015 she started having lung, liver, and GI issues. Ultimately, GI bleeding took her life in March of 2017 at the age of 17. Rilee’s creativity has inspired Nicole to put her whole heart into the community. She comes with much knowledge and personal experience and brings her heart and passion with her. She has already been giving her time behind the scenes for the last few years and looks forward to serving our rare community in a leadership role.

Ashley Yee

Ashley Yee

Board Director

Ashley is a non-profit, human service professional with over 10 years of experience in the industry with a passion for improving the environment and culture for people and community. She has exceptional skills in advocacy, community programming and counseling. Ashley is currently the Support Service Manager for Blind Children’s Learning Center in Orange County, California where she develops support and community programs for children with visual impairments and global delays; she previously served as the Patient Engagement Director at Global Genes where she was first introduced to rare disease and Team Telomere. Ashley obtained her Masters in Social Work with an emphasis in Industrial Social Work from University of Southern California and a Bachelors of Arts in Psychology from University of California, Irvine. Using her education and experience she hopes to bring her experience in non-profits and her skills in activating communities to Team Telomere.
Kim Cohee

Kim Cohee

Board Director

Kim is a rare disease patient advocate and genetic counselor with 25 years of experience in clinical, research and pharmaceutical settings. She lives in Santa Rosa, CA with her husband (Greg), teenage son (Jace) and cat (Dooby).  Kim has a Bachelor’s Degree in Genetics and a Master’s Degree in Health & Medical Sciences from the University of California, Davis & Berkeley, respectively.  She worked as a Genetic Counselor at Kaiser, a Clinical Trial Coordinator at the University of California, San Francisco (UCSF) and a Clinical Research Associate at BioMarin Pharmaceutical Inc.  Kim had the opportunity to meet Team Telomere through her work as the Director of Patient Advocacy at Ultragenyx Pharmaceutical Inc where she was employed until 2021. Kim is currently taking time off work to  care for family members.  She enjoys hiking, traveling, and tasting beer & wine in Sonoma County.
Amanda Curry

Amanda Curry

Chair of Communications Committee

Amanda lives in Michigan with her husband, two daughters and rescue pups, Penny and Andy. She was first introduced to TT in 2016 when she was diagnosed with dyskeratosis congenita, a telomere biology disorder. TT has had a big impact on her life, and has been a constant source of support, especially during her two stem cell transplants in 2021.

Amanda has a Bachelor’s in Marketing from Illinois State University and a Bachelor’s in Nursing from Oakland University. She has marketing experience in consumer products and in-vehicle applications/infotainment. She has worked as a nurse since 2015 and has experience in orthopedics, medical-surgical, intensive care, and eye surgery.

Our Consultants

Maggie Rowe

Maggie Rowe

Education Liaison

Maggie Rowe, LICSW, CCLS, is a Clinical Social Worker and Child Life Specialist in Spokane, WA.  She is currently working in private mental health practice with children and adolescents with unique physical and mental health concerns.  She previously served as the program coordinator and hospital-school liaison for the Andrew Rypien School Program, an education program within Sacred Heart Children’s Hospital.  In this role Maggie learned the ins and outs of special education, and how to help families solve the problem of chronic absenteeism due to chronic medical issues.  Throughout her career, 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 and bone marrow transplants 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.

Board of Medical Advisors

Suneet Agarwal

Suneet Agarwal

MD, PhD, Chair of Medical Advisory Board & Board Director

Dr. 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.
Sharon A. Savage

Sharon A. Savage

MD

Dr. 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.
Timothy Olson

Timothy Olson

MD, PhD & Board Director

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.

Ryan Himes

Ryan Himes

MD

Dr. Himes is a pediatric hepatologist (liver disease specialist) at Ochsner Health in New Orleans and Clinical Assistant Professor at Louisiana State University Health Science Center-Shreveport.  Focused on the care of individuals with rare, often genetically determined liver conditions, this led to a fortuitous clinical and research collaboration with Dr. Alison Bertuch while the two were colleagues at Baylor College of Medicine.  He’s particularly interested in the gastrointestinal and liver manifestations of telomere biology disorders and the role liver transplantation may play for select patients.

He leads the Division of Pediatric GI, Hepatology & Nutrition and is Medical Director of the Pediatric Liver Transplant Program at Ochsner.

Mrinal Patnaik

Mrinal Patnaik

MBBS

Dr. Mrinal Patnaik is an Associate Professor of Internal Medicine at the Mayo Clinic, Division of Hematology, in Rochester, Minnesota. He is affiliated with the Myeloid Malignancies group and is the director of the precision genomics practice. He is the co-director of the Epigenetics Developmental Laboratory and an executive member for the Beyond DNA committee, a major directive of the Center for Individualized Medicine. He obtained his medical degree from the Grant Medical College in Mumbai and then did his Internal Medicine residency at the University of Minnesota. He then completed a fellowship in Hematology, Oncology and BMT at the Mayo Clinic and has been a faculty member ever since. He has a strong interest in bone marrow failure syndromes and in 2017, with the help of the Division of Hematology and the Center for Individualized Medicine, he launched the program for excellence for Telomere Biology Disorders. This is a multidisciplinary clinical and laboratory effort being carried out to assess and provide comprehensive care to patients with Telomere Biology Disorders, including Dyskeratosis Congenita. His research interests include assessing for clonal hematopoiesis in Telomere Biology Disorders, epigenetic regulation of telomere length and the development of clinical trials for patients with Telomere Biology Disorders.

Jakub Tolar

Jakub Tolar

MD, PhD

Dr. Jakub Tolar is Dean of the Medical School and a Distinguished McKnight University Professor of Pediatrics at the University of Minnesota. A 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 and severe forms of epidermolysis bullosa. 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. He also serves as the Vice President for Clinical Affairs at the University of Minnesota, Board Chair for University of Minnesota Physicians, and co-leader of M Health Fairview, which is the Joint Clinical Enterprise between the University of Minnesota Medical School, University of Minnesota Physicians, and Fairview Health Services.

Rodrigo T. Calado

Rodrigo T. Calado

MD, PhD

Dr. 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.

Alison Bertuch

Alison Bertuch

MD, PhD

Dr. Bertuch received her BS from Massachusetts Institute of Technology and her MD and PhD from University of Rochester. She then completed her residency in Pediatrics and fellowship in Pediatric Hematology/Oncology at Baylor College of Medicine in Houston, Texas, where she has remained and is currently Professor of Pediatrics, in the Division of Hematology/Oncology, and Molecular & Human Genetics. She is the Director of the Bone Marrow Failure Program at Texas Children’s Hospital, where she cares for children with a wide range of conditions, including the Telomere Biology Disorders (TBDs). Dr. Bertuch has a long-standing interest in the TBDs and her research contributions have spanned from the basic science of telomeres to translational and clinical studies. She is particularly interested in the complexity of the molecular genetics underlying these disorders. Her research has been funded by the National Institutes of Health, the Department of Defense Bone Marrow Failure Research Program and the American Society of Hematology. She has received several honors including election to the American Society for Clinical Investigation and the American Pediatric Society.

F. Brad Johnson

F. Brad Johnson

MD, PhD

Brad 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.
Ann Carr

Ann Carr

MS, CGC

Ms. 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 20 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.

Souheil El-Chemaly

Souheil El-Chemaly

MD

Dr. El-Chemaly received his medical degree from Saint Joseph University in Beirut- Lebanon. He then completed a residency in internal medicine at St. Luke’s-Roosevelt Hospital, a teaching affiliate of Columbia University College of Physicians and Surgeons and a pulmonary fellowship at Jackson Memorial Hospital/ University of Miami. He then carried out a research fellowship at the National Heart, Lung, and Blood Institute in the laboratory of Dr. Joel Moss.

Dr. El-Chemaly is the Clinical Director of The Center for LAM Research and Clinical Care at Brigham and Women’s Hospital, an Associate Professor Harvard Medical School, Boston, MA, and an elected member of the American Society of Clinical Investigation.

Dr. El-Chemaly’s laboratory investigates the roles of pulmonary lymphatic vessels and the regulation of lymphangiogenic growth factors in various lung disorders. Dr. El-Chemaly’s clinical research interest is in investigating the role of telomere and telomere maintenance in pre- and post- lung transplant outcomes.

Global Ambassadors

Mayra Garcia

Mayra Garcia

Hispanic/Latino Ambassador (US)

Hola, soy Mayra Garcia de Miami, FL. Me siento honrado de formar parte de una misión muy cercana a nuestra familia. El primer día que nuestro hijo fue diagnosticado con DKC1, buscamos sin fin una pareja perfecta para salvar su vida. Me uní a Bethematch e Icla da Silva para la búsqueda. Llevé a cabo muchas campañas de médula ósea en las universidades, y prácticamente donde podría. No tenía ni idea de lo raro que era este trastorno y la dificultad de encontrar un donante dentro de la comunidad hispana. A lo largo del camino, aprendí sobre DC mientras cuidaba de mi hijo. También completé mi BSN en enfermería y resultó ser una ventaja durante los problemas de salud de mis hijos. Visité muchas oficinas pediátricas en miami y sólo escogí lo mejor para Julian.

Desafortunadamente, después de muchos años Julian nunca encontró un partido perfecto y recientemente falleció. Mi meta aquí es poder ayudar a muchas familias.
Espero con interés aumentar la conciencia, proporcionar cualquier tipo de confianza, y les dejo saber que esta comunidad es familia. Cuando duele, a todos nos duele. Julian tenía un corazón muy amable y ayudar a los demás es todo lo que quería hacer también. Esta es mi manera de honrar a mi hijo, a través de todos ustedes.

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Hello, I’m Mayra Garcia from Miami, Fl. I’m honored to be part of a mission very close to our family. The first day our son was diagnosed with DKC1, we searched endlessly for a perfect match to save his life. I joined Bethematch and Icla da Silva for the search. I held many bone marrow drives at colleges, and practically where-ever I could. I had no idea exactly how rare this disorder was and the difficulty of finding a match within the hispanic community. Along the way, I learned about DC while caring for my son. I also completed my BSN in nursing and it proved to be a plus during my son’s health issues. I visited many pediatric offices in Miami and only chose the best for him.

Unfortunately, after many years Julian never found a perfect match and recently passed away. My goal here is to be able to help many families struggling with this life long illness. I look forward to increasing awareness, providing any sort of confidence, and letting you know this community is family. When you hurt, we all hurt. Julian had a very kind heart and helping others is all he wanted to do too. This is my way of honoring my son, through you all.

 

Megan Stephens

Megan Stephens

Pacific Global Ambassador

Hello. 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.

Rachel Little

Rachel Little

Pacific Global Ambassador

Hello, 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 Team Telomere!

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 TBD/DC.
I am passionate about getting the global awareness needed to fund more research into telomere studies and find our warriors a cure!

Jacquie Roskell

Jacquie Roskell

UK Global Ambassador

Jacquie 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 Team Telomere 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

Dr. Rodrigo T. Calado

South America Medical Advisor

O Dr. Calado é Professor Associado de Medicina da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (USP) e Pesquisador Principal do Centro de Terapia Celular da USP. Trabalhou anteriormente na Divisão de Hematologia do Instituto Nacional do Coração, Pulmão e Sangue dos Institutos Nacionais de Saúde dos Estados Unidos da América. É especializado no diagnóstico e tratamento de falências da medula óssea, como a anemia aplástica, doenças dos telômeros e no estudo da biologia das células-tronco hematopoéticas.

El Dr. Calado es Profesor Asociado de Medicina de la Facultad de Medicina de Ribeirão Preto de la Universidad de São Paulo (USP) e Investigador Principal del Centro de Terapia Celular de la USP. Trabajó anteriormente en la División de Hematología del Instituto Nacional del Corazón, Pulmón y Sangre de los Institutos Nacionales de Salud de los Estados Unidos de América. Es especialista en el diagnóstico y tratamiento de falencias de la médula ósea, como la anemia aplástica, enfermedades de los telómeros y en el estudio de la biología de las células madre hematopoyéticas.

Christian Kratz

Christian Kratz

MD, German Medical Advisor

Herr 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.

Amy Pilon

Amy Pilon

Canada Global Ambassador

Amy 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
Rosario Perona

Rosario Perona

Spain Global Ambassador

Rosario Perona Abellón es profesor de Investigación del Consejo Superior de Investigaciones Cientificas. Actualmente es jefe de grupo en el Instituto de Investigaciones Biomédicas (CSIC/UAM) y dirige el grupo de Enfermedades con defectos en telómeros U757 en el CIBER de enfermedades raras (CIBERER).  Su grupo esta especializado en el estudio genético de pacientes con disqueratosis congenita y fibrosis pulmonar idiopática y es el grupo de referencia en España para el estudio de ambas enfermedades. Actualmente tambien trabaja en el desarrollo de una terapia de reactivación de telomerasa  basada en la actividad del péptido GSE4.

Rosario Perona Abellón é Professor do Investigação do Conselho Superior de Investigações Científicas. Atualmente é líder do grupo no Instituto de Investigações Biomédicas (CSIC / UAM) e dirige o grupo de doenças com defeitos nos telômeros U757 no CIBER de doenças raras (CIBERER). Seu grupo é especializado no estudo genético de pacientes com disqueratose congênita e fibrose pulmonar idiopática e é o grupo de referência para o estudo de ambas as doenças. Atualmente, ele também está trabalhando no desenvolvimento de uma terapia de reativação da telomerase para ambas as doenças com base na atividade de um peptídeo GSE4.

Carlo Dufour

Carlo Dufour

Italy Global Ambassador

Carlo Dufour lavora presso l’Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) G. Gaslini di Genova, il più grande ospedale pediatrico multi specialistico del paese, dove è dirige il Polo emato – oncologico – trapianto di cellule staminali ematopoietiche, e l’Unità di Ematologia che è  sede  del Registro Nazionale delle Neutropenie, del Registro Nazionale Alps e delle malattie correlate, del database nazionale dell’Anemia di Fanconi e del neofondato Registro Italiano Telomeropatie. Ha fondato, nell ‘Associazione Italiana di Ematologia Oncologica Pediatrica (AIEOP), il Gruppo di Studio sulle Sindromi da Insufficienza Midollare. Membro del network  internazionale TeamTelomere, attivo sulle malattie da disfunzione del telomero.  E’ autore o co-autore di più di 200 pubblicazioni internazionali e di libri di testo e capitoli di libri di ematologia. E’ revisore delle più importanti riviste scientifiche internazionali far cui : New England Journal of Medicine, Journal of Clinical Oncology, Leukemia, Clinical Immunology e Blood. Ha operato come valutatore esperto di progetti e contributi scientifici per vari istituzioni internazionali fra cui il Registro Francesce per le malattie rare,  Fanconi Anemia Research Fund INC (US), Leukemia and Lymphoma Research Foundation (UK),  American Society of Hematology Education Program. É stato Chairman del  Working Party of the Severe Aplastic Anemia (WPSAA) e membro del Bord dell’ European Society for Blood and Marrow Transplantation (EBMT). Al momento  ricopre il ruolo di coordinatore  dello Scientific Working Group (SWG)  on Granulocyte and Constitutional Marrow Failure Disorders per la European Hematology Association (EHA). All’interno dell’EHA fa parte della’ SWG Unti, dell’Eucational Committee e del Comitato per le Linee Guida. Ha partecipato alla commissione per l’attribuzione delle cattedre di medicina molecolare della University of London.

Da Dicembre 2019 è membro del Scientific Committee of the American Society of Hematology.

Nel 2015 ha ricevuto dal  Fanconi Anemia Research Fund. INC (FARF) il Discovery Award per la partecipazione all’identificazione del gene FANCT.

Nel dicembre 2019 gli è stato riconosciuto il premio per il contributo scientifico nel campo dell’Anemia di Fanconi dalla spagnola “Fundacion en la Anemia de Fanconi”.

A inizio 2020 è stato premiato dalla European Society of Blood and Marrow Transplantation (EBMT) con il Premio Van Bekkum, riconoscimento riservato al miglior contributo scientifico dell’anno, per lo studio prospettico randomizzato RACE (Confronto fra Immunosoppressione classica  ± Eltombopag)  nei pazienti con anemia aplastica grave.

Loetitia Soler

Loetitia Soler

France Global Ambassador

Bonjour, je m’appelle Loetitia, j’ai 46 ans, je suis conseillère en immobilier, je vis à POMPIGNAC à coté de BORDEAUX en FRANCE avec mon mari Christophe (50 ans) et mes deux enfants Thibault (20 ans) et Hugo (15 ans)

Hugo est né à 6 mois et 10 jours, il a fait un AVC à la naissance, il a une hémiplégie, durant des années il a eu beaucoup de problèmes de santé sans que l’on sache de quoi il souffrait exactement, les hospitalisations se sont rapprochées de plus en plus, puis l’année de ses 13 ans il a passé pratiquement à l’hôpital, c’est là qu’un médecin a décidé pendant son hospitalisation de faire des examens génétiques et le diagnostic est tombé, Hugo était atteint d’une dyskératose congénitale avec une aplasie médullaire et une atteinte du foie, j’ai été diagnostiquée dyskératose congénital avec une petite aplasie médullaire et une fibrose pulmonaire.

Suite au diagnostic, nous avons eu envie de nous rapprocher d’une association, mais malheureusement celle qui existait en France ne fonctionnait plus, nous nous sentons isolés, mais heureusement nous avons trouvé beaucoup de réponses sur le site et les réseaux sociaux de la TEAM TELOMERE, c’est de là qu’est venu mon envie de créer une association française de dyskératose congénitale TELOMERO ASSO qui a pour but de faire connaître la maladie, aider les patients et leurs familles et enfin collecter des fonds pour aider la recherche.

Je suis très heureuse aujourd’hui de pouvoir rejoindre l’équipe TEAM TELOMERE en tant qu’ambassadrice région FRANCE.

Yuki Kameda

Yuki Kameda

Japan Global Ambassador

私は亀田夕貴です。私は、東京医科歯科大学の検査学科を卒業し、現在病理部で細胞検査士として働いています。 私には3人娘がいますが、次女は生まれる際に問題が生じ、低体重児でしたが、その後は元気に成長してくれていました。2歳頃に全身に痣が出始め、風邪を引いた後に急に貧血症状がみられました。病院を受診すると、范血球減少を指摘され、再生不良性貧血と診断されました。
その後、爪の萎縮や口腔内白斑が見られたので遺伝子検査をしたところ、TINF2の遺伝子変異があり、先天性角化不全症と診断されました。現在は適合ドナーがいないので造血幹細胞移植ができません。今はアンドロゲン投与により治療をしています。それによりやっと血球値の低値維持ができています。それまでは1週間に1度の輸血が必要でした。今後は遺伝子治療の開発により、多くのDC患者に根治の可能性が広がるように希望を持って活動したいです。Team telomereの初めての日本人アンバサダーに就任できることをとても嬉しく思います。

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