At 37 weeks of pregnancy, I sat anxiously across from my OBGYN, who reviewed a STAT ultrasound I had done 15 minutes prior. He looked at me and said, “It’s time to have a baby!” After two long days of labor, Lorelei (Rori) was born on an early Friday morning in April.

Rori was so small, the smallest of my children, and weighed only 4lbs, 13oz. It was from that moment that I knew something was different about her. Her growth continued to be a struggle. From age nine to 18 months, we consulted our doctors for numerous oddities, and they told us it was normal. They believed it was a stage or it would come with time.

At the requested appointment when Rori was almost 18 months old, we had gone in for some strange vomiting episodes that we could not figure out the cause of and had left with a lab order for a CBC panel. When her CBC returned, her numbers were either high or low, but the doctor didn’t seem concerned. We had two more repeat CBC panels done before Rori was diagnosed with ITP (our first misdiagnosis).

We moved across the country in the summer of 2022 to take on new job opportunities, and we both agreed that it would allow us to find out what was going on with our daughter finally. Rori was still so small, not walking, not talking, fatigued after simple tasks, and sleeping most of the day and night.

In September 2022, we went to see Rori’s new pediatrician. Although she was not concerned, we knew we needed to push for answers. She respected our wishes, ordered another CBC panel, and agreed to send a referral to a children’s hematologist. Almost three months later and progressively worsening symptoms, including discovering she was blind in her left eye, she had a small cerebellum, and dependency on transfusions, our diagnosis came. Rori was diagnosed with Dyskeratosis Congenita with a TINF2 mutation, Revesz Syndrome.

In December, we met with Dr. Suneet Agarwal for the first time. We were looking for an HLA match in January, and in February 2023, we got admitted for a bone marrow transplant. It has been one month since her transplant, and her counts are phenomenal. We are forever grateful for the Team Telomere community that supported us and continues to root for us as we fight Lorelei’s fight.