One of the more difficult aspects of families and patients fighting a rare disease is finding the right resources. Below you will find information on the most current research and studies, physicians resources, support groups and Team Telomere’s Camp Sunshine.
Patient Care Packages
Our team has a favorite saying “it takes a village”, and that means taking care of those in our village. Feeling connected to those that are going through this journey is an important part of the medical process. Team Telomere provides care packages for our patients, no matter where there are in their journey & no matter where they are in the world.
The National Cancer Institute (NCI) is conducting a long-term study to better understand the medical problems and genetic aspects of telomere biology disorders (TBDs). This study has evaluated more than 120 families with TBDs since 2002. By incorporating detailed clinical and family history information with biospecimen collections, we have discovered the genetic causes of an advanced understanding of the complex medical challenges faced by patients and their families.
We strongly believe in the importance of collaboration and work with more than 50 clinicians and scientists in the U.S. and around the world as part of the Clinical Care Consortium of Telomere-associated Ailments (CCCTAA). Dr. Sharon Savage is the principal investigator of the TBD study at the NCI and the chair of the Team Telomere Medical Advisory Board.
The TBD registry is nested within the NCI’s inherited bone marrow failure syndromes study, which allows comparison with similar disorders to improve patient diagnosis and management. More information is available at https://marrowfailure.cancer.gov
If you are interested in participating, please call 1-800-518-8474 or email by clicking the link below.
Team Telomere wants to make sure you are an educated and empowered advocate, this means having access to the most up-to-date information. To find current research and clinical trials you can visit the US National Library of Medicine’s website. You can also see what the Team Telomere grant has funded by visiting our Physician Resource page.
The clinical care guidelines for Telomere Biology Disorder-associated medical complications provide background and general clinical guidance as we await comprehensive clinical trials on the management of the multiple complications in TBD/DC.
Team Telomere supports research toward better treatment and a cure for diseases caused by Dyskeratosis Congenita and Telomere Biology Disorders. We are releasing a call for proposals to find and fund the most innovative research projects aligned with this mission.
2019 Team Telomere Million Dollar Bike Ride Grant
Principal Investigator: Orphan Disease Center at the University of Pennsylvania
Telomere Biology Disorders. Dyskeratosis Congenita is a progressive, genetic condition caused by defects in telomeres, the protective caps at the ends of chromosomes. Impaired telomere maintenance in Dyskeratosis Congenita/Telomere Biology Disorders results in problems throughout the body, notably including blood, liver, and lung disease, and cancer. Proposals that seek to advance understanding of the genetics, biology, pathophysiology, disease manifestations, treatment, including late effects of stem cell transplant, natural history and/or outcomes of Dyskeratosis Congenita and telomere diseases will be considered. This grant is made possible by Team Telomere MDBR 2019.
Donate here to fund the Team Telomere MDBR 2019 Grant
This program provides a one‐year grant to support research related to a rare disease represented in the 2019 Million Dollar Bike Ride. A number of awards and dollar amounts vary per disease based on fundraising totals by each disease team. This Request for Applications (RFA) is open to the international community. All individuals holding a faculty‐level appointment at an academic institution or a senior scientific position at a non-profit institution or foundation are eligible to respond to this RFA.
Small molecule modulators of telomerase as novel treatments for Dyskeratosis Congenita
Principal Investigator: Suneet Agarwal, Boston Children’s Hospital
Amount Awarded: $100,373
There are no treatments for myriad problems faced by patients with dyskeratosis congenita (DC). We recently discovered how a new gene mutation, PARN, causes DC. That research revealed to us new and unexpected ways to control telomere length, which is defective in DC patients. Based on this information, we discovered molecules that are able to lengthen telomeres in cells from patients with DC. Under this award, we are going to rigorously test these molecules and study telomere-lengthening and other effects in patients’ cells. This research funding is important and timely because the experiments are directly aimed at developing new drugs for patients with DC.
Pharmacologic rescue of telomere defects in dyskeratosis congenita
Principal Investigator: Brad Johnson and Chris Lengner, University of Pennsylvania
Amount Awarded: $50,000
The primary problem underlying the diseases suffered by people with dyskeratosis
A multi-center, prospective, minimal intensity BMT trial for dyskeratosis congenita
Principal Investigator: Suneet Agarwal, Boston Children’s Hospital
Amount Awarded: $50,000
Bone marrow transplantation (BMT) is a life-saving therapy for many blood diseases, but the chemotherapy and radiation typically used in BMT cause life-threatening complications. For patients with the rare disease dyskeratosis (DC) who require BMT to cure their failing blood system, the toxicity and risks of BMT can be even more severe. We are conducting a clinical trial that asks whether DC patients can undergo BMT without using traditional “DNA-damaging” chemotherapy and radiation, in order to reduce the toxicity of the procedure and improve survival. The idea that this might work comes from an emerging understanding of the genetics and biology of DC. So far, a series of DC patients treated at one institution have successfully undergone BMT on this trial, making them the first group to obtain a cure for their failing blood systems without exposure to DNA damaging radiation and chemotherapy. Now, we aim to expand this trial to other major centers in the United States, as the first prospective multi-center BMT trial for DC. The 2016 Million Dollar Bike Ride Pilot Award from Team Josh and the DCO Riders will enable multi-center expansion of this clinical study, which promises to change the approach and outcome of BMT for DC patients.
Partners in Advocacy
Team Telomere believes that though we are rare we are not unique. On this page you will find a list of our partners in advocacy. Whether you are trying to learn how to become a better advocate or looking for assistance we have identified a list to help you wherever you are in your journey.
Patient Assistance Programs
NORD: National Organization for Rare Disorders
Miracle Flights – Provides free domestic or international travel to U.S. facilities for medical treatment, second opinions, and follow-up for patients in need.
Got Transition – Helps to improve the transition from pediatric to adult health care through the use of new and innovative strategies for health professionals and youth and families.
Sing Me A Story
Angel Flight – Arrange free air transportation for any legitimate, charitable, medically related need. This service is available to individuals, and healthcare organizations.
Global Genes: Allies in Rare Disease
Bone Marrow/ Stem Cell Transplant Info
Be the Match (National Marrow Donor Program)
DKMS: We Delete Blood Cancer – A non-profit advocacy group that works to raise awareness of the need for donors for hematopoietic stem cell transplantation, which people with blood cancers need for treatment.
Additional Support Progams
Founded in 1984, Camp Sunshine provides retreats combining respite, recreation and support, while enabling hope and promoting joy, for children with life-threatening illnesses and their families through the various stages of a child’s illness.
Camp Sunshine’s program is offered year-round and has the distinction of having been designed to serve the entire family in a retreat model. Team Telomere partnered with Camp Sunshine in 2010 to provide this retreat for families impacted by Telomere Biology Disorders. The retreat free of charge for families, offered bi-annually, and is attended by medical professionals who specialize in TBD/DCs. These medical professionals provided information about the disease with regard to their specialty and are available for family consultations during the session.
Recreational activities allow children and adults to relax and make connections with other families impacted by TBD/DCs. While at Camp Sunshine, each family stays in their own suite, equipped with two twin beds, bunk beds, a futon, full bathroom, microwave oven, and refrigerator. Meals are provided in the dining room and are occasions for socializing and unwinding.
Moderated parent groups are provided during Camp Sunshine sessions and are tailored to parents’ needs. These sessions are often the first opportunity parents have had to share their experiences with others in similar situations. The groups provide a forum in which parents can gain insight and support in dealing with illness-related issues.
A physician is available 24-hours a day throughout each session to support the medical needs of families attending Camp. In addition, a state-of-the-art children’s hospital is only 40 minutes from Camp, and an urgent care center and community hospital with fully staffed emergency rooms are 20 minutes away.
Camp Sunshine volunteers serve as camp counselors, and work in many areas of the program, including food service, arts and crafts, and a variety of other activities.
Legacy was developed during 2018 with the objectives of offering:
- Support and offering a chance for those who have lost loved ones to DC a place to share unfiltered perspectives about their experience with DC.
- A point of connection to stay informed about what’s going on with the Team Telomere community, including initiative, projects, and Team Telomere’s shared vision.
- Opportunities for those who have lost loved ones to grieve and use their energy to cope and help others within theTeam Telomere community.
We’d also like to offer ourselves as resources to the rest of our community who may be at a point of making difficult choices and realizations. This often happens during times of palliative care and/or hospice. Having someone on the other end of the phone or in correspondence that was in a similar place can be very helpful. Team Telomere’s slogan at one time was “You are never alone”. Legacy is here to help others that may be coping with loss or the end stages of DC find a place where they will not feel alone when they are looking for true comfort, non-judgment and understanding from others.
To become connected with or learn more about Legacy, please contact Bruce Friedman or Colleen Verkaik.