In 2015 our daughter, Megan, was diagnosed with moderate Aplastic Anemia, bone marrow failure at the age of 13. As part of that diagnosis process, she had extensive testing to try and determine the cause. That process included telomere length testing. We were told she had very short telomeres which made them suspect a genetic condition called Dyskeratosis Congenita (DC). She did not possess any other traits of DC at the time, her doctors felt it would be very unlikely they would find an identified gene for DC but they wanted to run the screening anyway. Surprisingly, she came back with a TERT gene variant but a novel variant they had not seen before. They tested us (her parents) as well as her brother. I, Jeni, came back with the same TERT gene variant and very short telomeres. At that time (2015) doctors were not confident she “had DC” but they wanted to treat her as if she did have DC, particularly when it came time to treat her bone marrow failure (Aplastic Anemia). Her bone marrow failure was not severe. We were told she would likely require a bone marrow transplant at some point in the future. With knowledge of her very short telomeres and telomere biology disorders, her doctors explained that she would need a different protocol for the transplant that would provide the very best outcome for her. They could not give us a timeline of how quickly her bone marrow failure would progress. Her hematology team and the genetic counselor gave us the website address for DC Outreach, helped us enroll in a study run by Alison Bertuch at Texas Children’s Hospital where the impact of her gene variant would be studied further. The plan was for Megan to be monitored yearly with bone marrow biopsies and monthly CBC’s. With that, we were sent on our way.
YIKES!! Although her team of doctors were very helpful and did their best to answer all the questions we could think of at the time, we felt very lost! How in the world did our daughter (and myself) end up with a one in a million genetic condition that we did not know the first thing about and what were we going to now? As we settled into this realization and looked for any information we could find, we finally decided to abandon Google and get on the DC Outreach website they provided us. Suddenly, and thankfully, we had contact with other people who were also diagnosed and access to medical information that could help us better understand what was ahead of us.
Unlike many others in the DC community, Megan received a diagnosis of Dyskeratosis Congenita very quickly and by the first doctor we encountered. We had a definitive diagnosis of Dyskeratosis Congenita nine months after our first visit. Finding out something was seriously wrong with Megan was very shocking, especially because the symptoms that sent us to a hematologist in the first place seemed very mild.
Through the DC Outreach group we heard about a DC family education summit at Camp Sunshine in Casco, ME. Our first visit to camp was in the fall of 2016. We were uncertain about attending. Who will we meet? Is Megan “sick enough” to be at this camp?
Camp Sunshine was truly a transformative experience!
We quickly formed many meaningful friendships that continue to sustain us through this very complicated, often lonely new world we find ourselves in. We also got a crash course in DC from the world’s most qualified experts.
Megan found friendship and camaraderie with a group of kids her same age. Many were sicker than she was, some were right where she was at, some had been through treatments and were regaining their health. And for once she did not have to listen to other people talk about her illness with her as a spectator. She was free to play, explore and enjoy her time there. She also sustains friendships that were forged during her time at camp.
We met adults who have lived with DC their whole lives. They provided great hope for her future. We left Camp Sunshine with a sense of confidence that we had the knowledge and support to navigate this disease. We returned to Camp Sunshine in 2018 and we plan to return every year the patient education summit is offered.
In 2018, DC Outreach turned in to Team Telomere! Our community has grown by leaps and bounds. We are proud to be part of this team and are thankful for all it offers. Community, support, treatment guidance and dedication to funding research that will surely help Megan and so many others in the future. We take full advantage of the Medical Advisory Board. Their willingness to answer our questions and work with Megan’s doctors here has been essential to creating the best plan for her healthcare. They also helped me develop a plan to monitor my health, even though I am minimally affected, as I moved forward with a DC diagnosis.
As the years have gone by, Megan’s health has worsened but we deal with the challenges that arise one and a time, step by step, knowing we are doing our best. We have learned that DC affects people differently, no two patients are alike, although there are some similarities, there are more questions than answers. To the surprise of her original hematology team, she still has not required the transplant we discussed when she was first diagnosed.
Megan finished high school and is currently going to community college part-time. Although she tries not to plan too far ahead, she is planning to attend college and study psychology. Her goal is to be a counselor or patient advocate, contributing to the care and community of chronically ill patients and their families. Most importantly she continues to adapt. We are amazed at her determination and tenacity. She picks herself up, dusts herself off and starts again no matter what challenges come her way. She is learning how to live the best life she can right here, right now. We are learning how to do the same.
We live in Laramie, Wyoming where Megan’s father, Rob, is a Philosophy professor. I, Jeni, am a preschool teacher, Megan brother Jackson is 7 years older and is attending graduate school (he does not have DC). We love living in the fresh air of the mountains. We have two crazy, silly dogs that complete our family.
DC was an unwelcome addition to our lives but it has brought us some insight into what is truly important. We laugh a lot, we worry less about the trivial things and we are grateful for the little things that many people take for granted.
There has been a lot of progress and advances in research and treatments of DC since we first encountered this 1:1,000,000 condition. We are confident the advances will continue resulting in better management and long term outcomes of this condition.
Our hope is that DC will not be a driving force in determining the course of Megan’s life but a manageable condition that tags along for the ride. Much of that hope is derived from the work and community of Team Telomere.