This Telomere Biology Disorder Awareness Month (TBD Month) we have a guest blog from Colleen, Team Telomere President & Chair of Legacy. Colleen is kindly sharing her families’ story from unexpected diagnosis, to health care journeys, to the strength she has found in the Team Telomere community.
If you would’ve told me 15 years ago that at least half of my wardrobe in the year 2020 would have the word “telomere” written on it I would have laughed and said no way! In 2005, my husband Michael and I were just getting into a parenting rhythm with our firstborn son Ryan who was almost two years old, and at that time we eagerly welcomed his little brother Tyler into the world.
While we had a few ups and downs along the way and an eyebrow raised a time or two over different medical concerns with the boys, we got the treatment we needed for them and carried on. Our boys gave us purpose and so much joy and we were eager to share life with them.
I took Tyler to a routine 6 month appointment where I pointed out a few unusual spots around his eyes to his pediatrician and she decided to run some general labs. The phone call that came later that day was the moment that forever changed the course for us. Life would never and could never go back to the way it was. Tyler’s results led to getting Ryan tested as well and eventually facing the reality that he shared the same medical condition as his brother, which at the time and for many months after we wouldn’t know what it was.
Suddenly we were thrown into a world of medical appointments, hospital stays, therapies, and connecting with specialists throughout the country as we tried to get an accurate diagnosis for the boys. Bone marrows were failing and time was not on our side … particularly for Tyler.
It was only after connecting with experts at NIH, specifically Dr. Blanche Alter and Dr. Sharon Savage, did they suggest having telomere lengths tested through Repeat Dx. And sure enough that ended up to be the common denominator for the boys. They were given a diagnosis of Dyskeratosis Congenita. While we quickly learned there is nothing good about having short telomeres as a young child, there was some relief in finally having a diagnosis and a name … even though we now knew we were dealing with an unrelenting, multi-system failure disorder.
Our boys each went through more treatment than any child should have to endure. Biopsies, experimental medications, bone marrow transplants, hip surgeries, lung transplant evaluations and treatment at medical institutions across the country as we sought the very best. Their arduous and painful journeys, though very different, ended the same. Tyler passed away at the age of 2 ½. His older brother Ryan passed away just three years ago at the age of 14. We are left with broken hearts.
Team Telomere found its way into my heart just before Ryan passed and this community has been a source of support and purpose, and has given me a small way to honor the lives of our boys ever since. I proudly wear Team Telomere T-shirts and sweatshirts to honor not only our boys, but all the precious boys, girls, men and women in this dear community.
I’m so thankful for the advances in treatment and all the steps forward since our boys were first diagnosed. I’m thankful for Team Telomere and Repeat Dx who have partnered together to expand our reach in getting the word out about telomere length testing and TBD’s.
Thank you for caring about this ultra rare, extraordinary and resilient community and for doing all you can to spread the word!
RepeatDx is sharing this special guest blog as part of Telomere Biology Disorder Awareness Month, which takes place every November. Make sure you follow our accounts on Twitter, Facebook and LinkedIn and show your support! You can find more information on Telomere Biology Disorders here.
This blog was developed in partnership with Team Telomere, of which Colleen is President & Chair of Legacy. Team Telomere is a global community focused on supporting families in their battles with Telomere Biology Disorders.