Resources

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.

Newly Diagnosed

Team Telomere knows that the moment you learn the diagnosis of telomere biology disorder, you feel completely isolated and alone. We are here to help, and share in the journey with you, by giving you the resources you need to fight this disease. Please click on our informational video to learn more about TBDs, and follow the link to our Resource Map. This map was created to help you find specialists in your region and beyond. It is a constant work in progress so please be patient with us, if you need any assistance, please email info@teamtelomere.org

Learn more about how to receive telomere length testing by visiting Repeat Dx website.

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.

Registry

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/disorders/telomere.html. 

If you are interested in participating, please call 1-800-518-8474 or email by clicking the link below.

Research

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.

Clinical Guidelines

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.

Research Grants

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.

2020 Team Telomere Million Dollar Bike Ride Grant

Project Title: Pre-malignant Clonal Evolution in Telomere Biology Disorders (TBD)

Principal Investigator: Daria Babushok M.D. Ph.D., University of Pennsylvania

Co-Principal Investigator: Bradley Johnson M.D. Ph.D., University of Pennsylvania and Timothy Olson M.D. Ph.D., Children’s Hospital of Philadelphia

Amount Awarded: $62,664

Lay summary:

Telomere biology disorders (TBD, also known as dyskeratosis congenita or DC) are caused by a defect in one of the genes that protect the ends of chromosomes called telomeres. Because of defective telomere maintenance, the ends of chromosomes in TBD patients become critically short, causing premature activation of cellular pathways associated with aging, which normally protect us by preventing replication of cells with damaged DNA. One of the most severely affected organs in TBD patients is the bone marrow. Failing bone marrow causes low blood counts and puts TBD patients at an increased risk of developing blood cancers such as acute leukemia and myelodysplastic syndrome (MDS). This research funding will allow us to determine the genetic changes that precede blood cancer development in TBD patients. We will specifically assess whether the disruption of pathways associated with aging and DNA damage is associated with precancerous changes in TBD.  The results of these studies will help us to identify important genetic alterations that could serve as predictors of precancerous changes in the patients’ bone marrow and as new targets for personalized therapies.

Small molecule modulators of telomerase as novel treatments for Dyskeratosis Congenita

Principal Investigator: Suneet Agarwal, Boston Children’s Hospital

Amount Awarded: $100,373

Lay summary:

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

Lay summary: 
The primary problem underlying the diseases suffered by people with dyskeratosis congenita (DC) is a failure of telomerase to maintain telomeres in a functional, i.e. “capped” state. This failure is secondary to mutations that partially compromise the ability of telomerase to lengthen telomeres. It is not yet possible to repair these mutations in all the affected cells of people with DC, and so instead of taking a genetic approach to DC therapy, we are investigating a potential pharmacological approach that is based on our recent discovery of a positive feedback loop between telomere capping and the activity of the Wnt signaling pathway. Wnt signaling is one way that different types of neighboring cells can communicate with one another, and it is particularly important in the support of tissue stem cells that are critical for tissue health. We found that when telomeres are capped, Wnt signaling is active, which in turn, feeds back to support continued telomere capping. This virtuous cycle breaks down when telomeres become prematurely shortened in DC, and indeed becomes vicious as the decline in Wnt signaling leads to further telomere uncapping. We reported recently that pharmacologic enhancement of Wnt signaling (e.g. using inhibitors of an enzyme called GSK3) can restore telomere capping and stem cell and tissue health in models of DC intestinal defects. We are now testing the applicability of this approach in other tissues, including lung and liver. Of particular note, we have recently established Wnt pathway defects related to type II alveolar epithelial stem cell dysfunction in a human cultured lung organoid model derived from induced pluripotent stem cells bearing DC-causing mutations. Moreover, GSK3 inhibition rescues these lung epithelial defects, supporting the potential utility of Wnt pathway agonists in DC therapy.

A multi-center, prospective, minimal intensity BMT trial for dyskeratosis congenita

Principal Investigator: Suneet Agarwal, Boston Children’s Hospital

Amount Awarded: $50,000

Lay summary:
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.

Patient/Caregiver Programs

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.

Aplastic Anemia

The Aplastic Anemia & MDS International Foundation

Financial Support

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.

Angel Flight – Arrange free air transportation for any legitimate, charitable, medically related need. This service is available to individuals, and healthcare organizations.

Health Well Foundation – Pedatric Assistance Fund

Julia’s Wings

Patient Assistance Programs

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.

Angel Flight – Arrange free air transportation for any legitimate, charitable, medically related need. This service is available to individuals, and healthcare organizations.

Sing Me A Story

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.

Education Resources

Center for Parent Information and Resources – Each state has to have it’s own Parent Training and Information Center (PTI) to train parents in Special Education law and procedures. This of course only applies to our US kids, but is truly wonderful. The PTI staff hold trainings on educational issues, will assign you an advocate to look at your child’s school situation and offer ideas and feedback, and will also support parents in school-based meetings.

Wright’s Law Website – Pete and Pam Wright have put together a very comprehensive web-site for education self-help. Though the website is initially overwhelming (it’s a little outdated stye-wise), there are all sorts of searchable topics and the information is top-notch. The Wrights do trainings all around the country on IEP and 504 law, and I’ve been able to meet them personally. I can vouch that they know what they’re talking about!

Yellow Pages for Kids – This is another off-shoot of Wright’s Law, which has education resources by state.  This is a great way to find educational advocates, attorneys, training, and more.

Additional Support Progams

Peachs Neet Feet  – The mission of Peach’s Neet Feet (PNF) is to provide tangible ways to be compassionate, and inspire others to engage in acts of kindness.

Sing Me a Story

 Camp Sunshine

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.

Psychosocial Support

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.

Medical Support

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.

Volunteer Support

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.

Family Day

Team Telomere’s Family Day program was launched in 2019 to bring community together in your region. We know how isolating the journey can be and want to give these days as a gift back to our community. Each Family Day is it’s own unique day, some are simple with dinner together while others are a full day spent with physicians and members of Team Telomere’s leadership. We are excited for the Family Days we will be hosting in 2020 that will bring community to you.

Family Day Sponsors

Locations & Ticket Information

St. Louis, MO – Join us April 16, 2020 at Washington University St. Louis as we join together as a community of patients, caregivers, siblings, researchers, clinicians and advocates. Team Telomere is delighted to partner with WU to provide breakfast, lunch, presentations and a fun-filled afternoon at Union Station Aquarium, Ferris Wheel and more!

Register by April 10, 2020.

Coeur D’ Alene, ID – Join us July 24-27, 2020 for a weekend intended for our adult caregivers. We have 8 slots open for our Women’s Weekend and our Men’s Weekend. First come first serve, must be over 18 to participate. Must be able to pay for travel to and from. All lodging, meals & events paid for by Team Telomere.

Women’s:

24th Arrive at the Lake House on beautiful Lake Pend Orielle 

25th Day at the Lake House

  • Caregiver support call with Dr. Sharon Savage
  • Self Care with Joy Heimgartner, Mayo Clinic

26th Breakfast at Belle’s Brunch House

  • CDA Power Yoga 
  • Hike Tubbs Hill
  • Dinner at a local venue 

27th Home

Men’s:

24th Arrive at Casa Stevens 

25th CDA Adventures, Full Day White Water Rafting Trip

26th Hike/Fly Fishing or CDA Yoga 

  • Caregiver support call with Dr. Sharon Savage 

27th Home

Rochester, MN – Join us October 2, 2020 at The Mayo Clinic as we join together as a community of patients, caregivers, siblings, researchers, clinicians and advocates. Team Telomere is delighted to partner with Mayo to provide breakfast, lunch, presentations and a fun-filled afternoon at The Red Barn. We look forward to an afternoon of hay rides, chatting and be sure to take a pumpkin home with you.  Our 3rd annual Dine, Dance and Donate will be held in Rochester, Minnesota. Make it a true Team Telomere weekend and join us October 3, 2020 from 7-11pm at the Rochester Arts Center more info on the DDD here.

Brisbane, Australia – Details to be released April 1. Save the date, October 17, 2020 for a Down Under Family Day.

Manchester, UK – Details to be released May 1. Save the date, November 18, 2020 London and November 21, 2020 at the Wyrebank in Garstag.

Register for Family Days 2020

Legacy

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 Colleen Verkaik.

X