Team Telomere is a community organization that provides information and support to families affected by dyskeratosis congenita and telomere biology disorders. Through her personal story, executive director Katie Stevens lays out the characteristics of this rare genetic condition and stresses the significance of telomere testing for saving patient’s lives.
What is Team Telomere all about?
Team Telomere started 15 years ago as Dyskeratosis Congenita Outreach, a very small patient advocacy group of parents that were brought together by the bone marrow failure program at the National Institute of Health. It was a very small community of people looking for answers. Telomere biology disorders, TBDs, including Dyskeratosis Congenita, are such a rare condition that even with the increased accessibility and understanding, very few people get diagnosed.
We work primarily in outreach, advocacy, and research. Our main focus is to educate physicians so that they can provide patients with access to telomere length testing that leads to appropriate treatment. In the last six years, we have invested $360,000 in research and promote accessibility to telomere lengthening across the globe.
Please describe your background before joining Team Telomere
Back in 2012, at 12 years of age, my oldest son, Riley, was diagnosed with bone marrow failure. They thought at the time that his bone marrow failure was idiopathic. The frontline treatment for that is ATG or bone marrow transplant. They checked his siblings as potential donors, but neither was a match for him, so they decided to go through with the ATG.
He didn’t respond well to the treatment and as his illness progressed, his hematologist decided to attend the American Society of Hematology conference where he heard about telomere length testing. He found out that it was possible to have short telomeres and not have a full spectrum of Dyskeratosis Congenita, a genetic disorder that can be associated with bone marrow failure.
We tested my son’s telomeres, and they were significantly shorter than the first percentile. Suddenly, he had a new diagnosis: bone marrow failure due to short telomeres. We connected with Dyskeratosis Congenita Outreach, which is now Team Telomere. We joined a camp where we met a research physician, Dr. Suneet Agrawal from the Boston Children’s Hospital, who had just written a protocol for a reduced-intensity bone marrow transplant, specifically for people with short telomeres. We had to move 3,000 miles away, from Idaho to Boston, to undergo this experimental bone marrow transplant. Riley is now six years post-transplant. He is a 20 years old river raft guide and he’s doing extremely well for his condition.
That is how I came into the community and it just evolved since then. I was a board member and then president of the board of directors, and then I moved into a professional position with the organization. Today I’m the executive director of Team Telomere.
What are telomeres and why are they so important to human health?
Telomeres are the protective end cap of the chromosomes. They are like the aglet of a shoelace. If the plastic aglet of the shoelace is damaged or missing, the shoelace starts to unravel. Essentially, it’s the same for telomeres.
When we are born, ideally, our telomeres are long, and as we age, they shorten, causing us to age. It’s an aging process that happens naturally in the body, but people with telomere biology disorders have very short telomeres to begin with, so their whole body is much more fragile. They have telomeres that you would typically see in an 80-100-year-old person at a very young age. Telomere Biology Disorders are a terminal illness that just progresses over time.
The average lifespan of people with short telomeres is currently 16 years. While it’s possible to get patients to live longer, it creates new complications that we hadn’t seen before. Thankfully, my son did not present normally. He is doing extremely well and he is an adult now, so he gets to decide how much he is followed and looked at. Ideally, his lungs and skin should be watched, because these rapid turnover cells are the most affected.
How are short telomeres diagnosed?
They perform the testing when there’s a multi-organ failure, either bone marrow failure or pulmonary fibrosis of the lungs and liver. Bone marrow failure is typically on the pediatric side, and pulmonary fibrosis is on the adult side. They run the telomere length test first, and then they cross-check it with the gene panels to understand why the telomeres are short. There are 15 genes associated with this dyskeratosis congenita, but 30% of patients still haven’t had an identified gene associated with their condition.
Why does Team Telomere need to educate doctors? What do you feel is missing?
Telomere Biology Disorders including Dyskeratosis Congenita is an ultra-rare disorder. Fortunately, my son had a curious hematologist who decided to do the telomere length testing. Had Riley not done that, his fragile genes would not have survived the radiation and the chemo. Patients with short telomeres do not fare well with traditional intensity bone marrow transplants.
We educate hematologists, pulmonologists, and hepatologists, that just because a patient doesn’t have the classic showings of the disease doesn’t mean they have normal telomeres. We’re making telomere length testing accessible for physicians. Currently, telomere length testing is only done by John Hopkins University and RepeatDX, so it’s very limited. We’re working to make it more accessible while also fighting insurance-related issues and international roadblocks with regards to telomere length testing.
Oftentimes, a doctor would suggest running telomere length testing, but the insurance company will refuse to cover it because the patient is not showing the signs of the disease. It creates a constant roadblock for early diagnosis and continuous care.
People should have access to gene panels and telomere length testing at birth. It is starting to happen, but it’s so expensive that people tend to stay away from it. Furthermore, the fact that insurance companies get to decide whether a medical test is needed or not is just wrong. Even if you’re not showing the exact signs of the disease, it doesn’t hurt to know your telomere length, as it can lead to better treatment.
My son was a normal 12-year old boy and suddenly became gravely ill. He received the bone marrow transplant and he’s never required further treatment, unlike others that have telomere biology disorders. Monitoring lungs and screening for oral cancers is the norm. The more people get tested, the better understanding we’ll gain about telomere disorders and telomeres in average human biology.
Are there any new treatments or technologies that you think might help patients with short telomeres in the future?
CRISPR technology is fantastic and everybody in genetics is talking about it. It’s not a viable option at this time for TBDs, but there are other treatments on the horizon, including small molecule therapies and new treatment for the blood tissues, that don’t include a bone marrow transplant. I am hopeful.
It’s bad luck to have short telomeres, but the good thing is that everybody is interested in telomeres because of their association with aging. Ideally, I would like those studying for the disease and those studying for anti-aging to put their heads together. Diseases are specific, but they’re also very alike, so I think the more we connect and collaborate, the more helpful science is going to become.
We’re hopeful for the future. As science continues to move forward, the accomplishments of the last decade are remarkable. I can only imagine what the next 10 years of science will bring.