In this special guest blog Katie Stevens, Executive Director of Team Telomere, shares her story of learning about telomeres, telomere biology disorders and becoming a member of the powerful community she now plays a leading role in.
Before October 2012, I had only heard telomeres casually mentioned in a biology class… maybe? Little did I know how that word would soon become the purpose of my life, that started with needing to save my child’s life first.
Diagnosis and telomeres
My son Riley was diagnosed with Idiopathic Severe Aplastic Anemia (AA) at Sacred Heart Medical Center at the age of 11. Prior to this Riley had been your average kid, growing, playing, and was an avid hiker. If I look back now I can clearly see where he began to get sick, but living in ignorance we only noticed subtle things like he seemed more tired and pale, and seemed to have more bruises than usual.
Riley’s hematologist, fortunately for us, was very curious about why Riley had developed AA. He tested for everything. Except telomeres, because according to the information available at the time, Riley did not present as someone with a telomere biology disorder (TBD).
Finding no genetic explanation and no sibling matches for bone marrow transplant, we moved forward with ATG drug treatment. Riley did not respond.
At the American Society of Hematology Conference his hematologist learned about telomere testing. So, purely out of curiosity, he sent Riley’s blood to Canada to be tested at RepeatDx. We were all shocked when our child’s telomeres tested at less than the first percentile!
Team Telomere: An International Community for Telomere Biology Disorders
When Riley was initially diagnosed, we were told “You will find you are a little tiny island in an ocean of cancer. Resources will be very hard to find.” After the telomere length test, we found we were no longer on the island but standing on a buoy off the island, and that’s when we learned what true community means.
I believe that our story would not have turned out as well as it has, had we not found our community. Riley is now four years post stem cell transplant, has graduated high school, and is working as a ski tech locally.
Team Telomere (formally Dyskeratosis Congenita Outreach. Inc) is an international community for TBDs. We found them via Facebook and before we knew it we were flying to Camp Sunshine in Maine, to meet other families like ours, along with clinicians and researchers that specialize in the disorder.
We met with Dr. Suneet Agarwal, who had developed a stem cell transplant protocol for individuals with short telomeres. While our son did not present like others, his body was telling us to treat him with sincere thought. A year later, Riley and I moved to Boston from Coeur d’Alene, Idaho to undergo his reduced intensity stem cell transplant. This was made possible by his heroic unrelated donor, Simon Hoss, from Germany.
After 32 days of in-patient care Riley was released from the hospital. Though the road has not been easy, we have been very appreciative of how well Riley’s story has turned out.
Serving the telomere biology disorder community
With a new found passion for the community, I volunteered to lead Team Telomere. Three years later, I find myself as the Executive Director, working shoulder to shoulder with those fighting for better days for those struggling with TBDs. I never thought this would be my chosen path, but I find it my absolute passion in life, that all began with the passion for my child.
I now get to serve an amazing community that gave everything to me. I take it very seriously that I have a responsibility to help educate others about this disorder, find funding for research and reach as many people as possible in the time I get to serve.
Team Telomere is so excited to work with Repeat Dx in November to move our mission forward by celebrating Telomere Biology Disorder Month #TBDMonth. We will be all over social media. Each Tuesday and Friday of November you can look to find out more information about Team Telomere, RepeatDx, and the amazing community we serve!
To find out more about Team Telomere and the support they can offer head to their website.
To read more about telomeres and what happens when they are critically short go to this blog.