The second edition Telomere Biology Disorders: Diagnosis and Management Guidelines have been officially published. This is a comprehensive reference manual for patients, physicians, and researchers.
These updated guidelines are the result of a multi-disciplinary international collaboration between clinicians and scientists united by the goal of improving the lives of people with Telomere Biology Disorders and reflect an evolving understanding of these diseases.
The managing editors and editors of these guidelines are listed below. Each of these editors offer unique perspectives that they share in the following blog.
- Suneet Agarwal, MD, PhD, Boston Children’s Hospital, Dana-Farber Cancer Institute and Chair of Team Telomere’s Medical Advisory Board
- Sharon A. Savage, MD, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute and Founding Chair of Team Telomere’s Medical Advisory Board
- Katie Barrett Stevens, Mother of Survivor of Bone Marrow Failure due to Short Telomeres and Executive Director, Team Telomere
- Hannah Raj, BS, Program Manager and Communications Chair, Team Telomere
- Heidi Kay Carson, Bereaved Family Member, Data Collection Manager, and Board Member, Team Telomere
Why do you think the new guidelines are so important?
Dr. Suneet Agarwal: Both the progress and needs are greater than ever. More has been learned about the manifestations and interventions for telomere biology disorders (TBDs) since the last edition than in the ~100 years since they were first described. Individuals are being diagnosed with genetic TBDs at the highest pace, thanks to increased awareness and testing. But most individuals and physicians have still never heard of TBDs. These Guidelines aim to fill important gaps.
Dr. Sharon Savage: We learn more about TBDs every day. Since 2015, when the first edition was published, several new genetic causes have been discovered, there is a growing appreciation of the complex and varied clinical manifestations, and new studies of outcomes for patients. As rare diseases, it is important for non-expert providers and families to have access to the latest thinking in the field.
Katie Stevens: The field of telomeres has grown so much since we were first told in 2014, “your son’s telomeres are less than the first percentile”. This team has handed out thousands of copies of the first edition. The goal of each one is that the content will help someone with a TBD not just live longer but will add to their quality of life, help caregivers find hope and support, and help the physician gain a better understanding of the genetically fragile human life they are walking alongside through treatment. This second edition of the clinical guidelines brings so much to the table. New information, an even greater understanding of the field, new perspective on advocacy. They bring together over 50 medical professionals and advocates in a collaborative effort that will reach across the world and make our global research network that much stronger. My hope is with each new update we will always strive to do better, have more and be that much closer to a day when this community has a cure accessible to them.
Hannah Raj: To me, this answer is best summarized from a powerful line within the guideline’s dedication: “Our wish is that these guidelines provide life-prolonging guidance, hope for the future, and an affirmation that you are never alone.” It is critically important for individuals with TBDs, their families, and their care teams to have the resources needed to properly diagnose and effectively treat and manage TBDs. The second edition of these guidelines are very comprehensive, touching on telomere biology, the major body systems, and potential future directions, and they include 9 new chapters, reflecting our evolving and updated understanding of these diseases.
Heidi Carson: Receiving a diagnosis of a TBD can be devastating. The person who receives the diagnosis might have one set of symptoms today, and they and their families can feel overwhelmed with worry that those symptoms might worsen tomorrow, or a different set of symptoms might develop. The guidelines attempt to address all known manifestations of TBDs in all parts of the body so that people with TBDs and their families can be aware of the potential evolution of the TBD and possible treatments. The message of “you are never alone” also resonates throughout the guidelines. It’s crucial for people with TBDs and their families to know that there is a robust support network for them that is encapsulated in the 31 chapters of these guidelines written by over 50 medical professionals from around the world.
Why have you been involved with the new edition of the guidelines?
Dr. Suneet Agarwal: I resolved myself to improve our knowledge and treatments of dyskeratosis congenita/TBDs over 10 years ago, inspired by families I met at Camp Sunshine. The Guidelines were the clearest, consensus “ask” from the families to the doctors and researchers. The community sought something tangible that encapsulated all that we were talking and thinking about, not only for themselves but also for their doctors / care providers. It has been my pleasure to help respond to this request by bringing together the knowledge of dedicated international experts in this volume.
Dr. Sharon Savage: I’ve been studying the genetic causes and clinical manifestations of TBDs since 2005. The science is fascinating, but it is the families who motivate me to keep working to understand why TBDs occur and figure out what to do about them. I organized the first meeting of families, physicians and scientists, in 2008, which laid the foundation for a research consortium and for Dyskeratosis Congenita Outreach, which later became Team Telomere. I learn something new from families every day and have resolved to continue my work to help them. The guidelines book is one such way.
Katie Stevens: One year after my son’s stem cell transplant, I was resolved to walk away from the community. I felt like we didn’t ‘need’ support and that his spectrum of the disease made it difficult to relate to anyone without feeling tremendous guilt. As it came to pass, I did not walk away and found myself in a leadership role that evolved to my life’s work and passion. I am involved because I want to give back, and I realized how much I needed to give support and to receive support from this community that never stops trying to make days better for those suffering from TBDs. I am in constant awe, am inspired daily and motivated to do my very best to find answers for the problems the community faces today and all the tomorrows to come. The first line of defense is the clinical guidelines. It has been an absolute honor to see these come to fruition over the course of the last two years.
Hannah Raj: I became involved with the community and this effort after I first-handedly learned about TBDs. This experience exposed me to a whole new dimension of human suffering that I previously did not know existed. At the same time, however, I found abounding hope and an incredible community. From the physicians, researchers, affected individuals, caregivers, advocates, etc. I have found this entire community is driven to improve the lives of every person impacted by TBDs. I am driven by this same goal and want to do everything in my ability to serve the TBD community. Reading these guidelines fills me with overwhelming support and hope for the future, and my wish is that our community feels the same way.
Heidi Carson: TBDs can look like other diseases and thus can go undiagnosed or underdiagnosed in a patient for years. That was my husband’s experience. When my husband finally received a TBD diagnosis, he was already desperately ill, and we scrambled to find options for him. We ultimately traveled across the country and to South Korea seeking potential curative treatments. I never want another family to have to endure the medical nightmare we went through. I am passionate about working to ensure TBDs are recognized early for what they are, and symptoms are not dismissed as idiopathic, as was our experience at some of the top hospitals we visited. Based on my experience, I believe there are a lot more people with TBDs out there than we know about, and my dream would be to see a copy of these guidelines in the hands of every physician in the world.
What do you think is the key takeaway / most important advancement in this new version of the guidelines?
Dr. Suneet Agarwal: The new edition expands substantially beyond the blood manifestations and childhood presentations of TBDs, more effectively addressing the unmet needs of a greater proportion of the community. These are areas that we will keep expanding in years to come, to improve outcomes for all TBD patients.
Dr. Sharon Savage: The number of new chapter authors illustrates the growth of the field and has brought in numerous experts from an array of specialties not previously considered. We’ve learned a lot but still have a lot more to do.
Katie Stevens: To me, the liver transplant chapter stands out. I can clearly remember my first Camp Sunshine and it was mentioned that for some reason liver is rarely mentioned or an issue. Fast forward to today when liver transplant has become a part of the conversation and a necessity to longer life for some. These guidelines will help to open doors that may have been shut to those needing this life-saving transplant.
Hannah Raj: One of my key takeaways is that we are all truly better together. At Team Telomere, we have a favorite saying: “it takes a village,” and that statement is encapsulated by these guidelines. These guidelines would not be possible without all parts of our community coming together from our Community-Centric Review Committee that represent unique perspectives of the patient community, contributing authors that span multiple disciplines, and generous sponsors. Looking at the very long list of individuals who contributed their precious time and expertise to these guidelines amazes and humbles me.
Heidi Carson: We strove to encapsulate Team Telomere’s entire support network of clinicians and researchers in these guidelines, so that readers would feel comforted by the fact that TBD research and treatments have advanced since the first edition and will continue to advance. We will also strive to promote and disseminate these guidelines into as many hands as possible, through the Team Telomere website and also via Amazon, to raise awareness of TBDs and support Team Telomere’s core message of “you are never alone.”
Team Telomere thanks our many contributors and RepeatDx for being generous sponsors. Our guidelines can be found on our website here.
Additionally, families impacted by TBDs and those in the medical and scientific community can request a physical copy of our guidelines through the application on our website.
To learn more about Telomere Biology Disorders, watch this informative video produced by Team Telomere.