Hi! My name is Tessa, writing on behalf of my daughter Willow. Our journey started in 2022 (though I had suspected a familial disorder on her dad’s side prior due to shared medical issues between her father and grandmother). After being misdiagnosed and seeking a second opinion with Mayo Clinic, Willow’s grandmother discovered she had a telomere biology disorder when I was just 2 months pregnant with Willow. Because of symptoms displayed by her father (premature greying, previous diagnosis of ITP, chronic low ANC/RBC/WBC counts) we knew there was a good chance Willow had also inherited this condition. At just 1 year old, Willow’s telomere length was tested and found to be well below the first percentile, and a TERT gene mutation was identified. Initially, this brought a lot of fear…fear of the known, but even more of the unknown. Frustration having to explain the condition over and over again to various doctors because not one single doctor outside of Mayo Clinic in our area has any knowledge of her condition (Dyskeratosis Congenital). Willow is 3 now, and in a few months we will be going in for her 3rd bone marrow biopsy. Thankfully as of now, her blood counts are stable, her growth is average, and we don’t see any of the symptoms associated with her condition. We have gained a lot of information from our doctors, individual research, and the team and Team Telomere. We look forward to updates from Team Telomere and other related organizations to see where the science of telomere biology disorders will go, and hope for a cure and for comfort to all families affected by these disorders.
Willow Schewe
Gene: TERT
