To help raise awareness of rare disease dyskeratosis congenita, and other telomere biology disorders caused by short telomeres, Jeni has shared her experience this Rare Disease Day.
My name is Jeni Colter. At fifty years old, I have many things; A wonderful husband, two great kids, a house, two dogs and very short telomeres. Very, very short if you want to get technical, less than the first percentile across the board.
Had it not been for my daughter, Megan, and her diagnosis of Dyskeratosis Congenita six years ago, I, theoretically, could have gone my entire life without discovering I had very short telomeres.
In 2015, my daughter, who was 13 years old at the time, was referred to a hematologist for a slightly lowered platelet count and unexplained petechiae. What was meant to be a visit to rule out anything serious led us down a rabbit hole of information and diagnoses in the following months that I could have never imagined was coming our way.
She was referred to Children’s Hospital Colorado’s Center for Cancer and Blood Disorders. Her hematologist, Taizo Nakano, specialized in bone marrow failure syndromes. Even though her symptoms were very mild he did a thorough workup to rule out bone marrow failure/aplastic anemia.
We were lucky in that Dr. Nakano ordered telomere length testing as part the initial evaluation. The results of her initial workup showed she had bone marrow failure and extremely short telomeres.
A few months later we received results of a genetic screening which revealed she carried a TERT gene variant. This eventually led to a diagnosis of a telomere biology disorder (TBD) called Dyskeratosis Congenita.
Family telomere length testing
The next step was testing my husband, myself and my son. We each had a telomere length test and a genetic screening for the TERT variant found in Megan. My husband and my son had normal length telomeres, and no gene variant. I had very short telomeres and the same TERT variant as Megan.
I remember seeing Megan’s telomere length report for the first time. Those little dots, in five categories, all sitting well below the first percentile. It was scary, it was sad and it was alarming.
Like all parents confronted with a diagnosis like Dyskeratosis Congenita, we had many questions. We wanted a prognosis and plan for what was to come.
Seven years later we still don’t have a prognosis. But we do have a plan.
Screening and monitoring for a variety of conditions that may develop is the most important part of “the plan”.
During those first few years our focus was on Megan, I had not taken the time to consider how very short telomeres and a TERT gene variant could impact me.
Two years ago, I scheduled an evaluation with Dr. Mrinal Patnaik at the Mayo Clinic. In preparation for my evaluation, I found my telomere length report. Looking at it, I was absolutely certain it was Megan’s, I printed a copy of both her’s and mine. When I placed them side by side, they were nearly identical.
The results of my evaluation showed my bone marrow cellularity is slightly below average, my blood counts are low normal or just below normal. My liver and my lungs are perfect. I am minimally affected.
Megan, although she has escaped needing major interventions thus far, is more severely affected. She has very low cellularity, blood counts well below normal. GI issues, and other symptoms that are often associated with Dyskeratosis Congenita.
Very recently, I encountered a parent of a child severely affected by a TBD. His child was already very ill at nine years old. He was seeking answers to the same questions we all have. He mentioned his child’s telomere length report. “According to this, his body is 80 years old, his telomeres will only get shorter, the prognosis cannot be good” he said.
In that moment I was able to put the past seven years of experience and our telomere lengths into perspective. I shared my experience, my daughter and my telomere length percentiles are nearly identical. Yet, our presentation is vastly different.
Telomere length is just a piece of the puzzle. It is an amazing tool to properly diagnose TBD’s. But, as much as we want something, anything, to accurately tell us our prognosis, telomere length is not a magic solution on its own.
Seven years after the fear that came with seeing Megan’s report for the first time, I can honestly say I am grateful for what telomere length testing has given us. Knowledge. Knowledge that led to speedy and accurate diagnosis for Megan. Knowledge to make the best decisions we can for our health, now and in the future.
RepeatDx is sharing this special guest blog as part of our involvement with Rare Disease Day, which is being celebrated on February 28, 2022. Make sure you follow our accounts on Twitter and Facebook, and show your support!
To learn more about short telomeres and telomere biology disorders take a look at this useful page.
This blog was developed in partnership with Team Telomere. Team Telomere is a global community focused on supporting families worldwide in their battle with dyskeratosis congenita and related Telomere Biology Disorders.