Charley was born at 32 weeks weighing 2lbs 6oz. Although she was small, since the very beginning she has been determined. Requiring CPAP to help her breathe after birth, after 8 hours she decided enough was enough, ripped off the mask, and never needed it again. This was the start of our girl’s story. When she was born we decided to do genetic testing to see if there was a genetic component to her growth restriction. Her older brother in heaven was also growth restricted and we were searching for answers. At that time, the whole genome sequencing showed nothing of interest, and we put it aside. After 6 weeks and a fairly easy NICU stay, Charley’s first year of life was probably more difficult than typical, but didn’t seem out of the ordinary for a preemie. She struggled to gain weight, and fell behind on physical developmental milestones, but was overall healthy and VERY happy! Shortly after her first birthday she got sick then developed an ear infection. No big deal. A few months later she contracted COVID, but only had a low grade fever and a runny nose for a few days. A couple months later in October, she contracted Human-Metapneumavirus, which the doctor was shocked about stating he typically only sees it in teenagers. She required oxygen and was hospitalized for three days. We caught a break through the holiday season, but at the end of January she contracted RSV, this time being hospitalized for 10 days, 5 of which were in the PICU. This was only the beginning of our hospital stays for the year 2025. We spent the majority of February and March in and out of the hospital, contracting illness after illness, requiring oxygen each time. Finally, our pediatrician said it was time to get to the bottom of why this was happening. Charley underwent every test imaginable, and while all of her results were showing that something was certainly going on, they didn’t point to anything conclusive. When we discovered she had PJP pneumonia, which typically is only present in immunocompromised or HIV positive individuals, we knew something was likely wrong with her bone marrow to cause this issue. The geneticists at Mayo Clinic suggested we re-check her whole genome sequencing to see if anything new had been discovered, and on March 27th at 21 months old, she received her Dyskeratosis Congenita diagnosis. Charley was “lucky” enough to inherit a mutated TERT gene from both myself (mom) and my husband. Suddenly with this diagnosis, every complication and struggle she had ever had was explained. It was the strangest feeling to have the relief of an answer, and the devastation of our new reality. In August of 2025, Charley underwent a bone marrow transplant, much like many others with this condition unfortunately she contracted adenovirus while in the hospital two weeks post transplant. This lead to serious setbacks with her new cells, many complications, and a total of five months in the hospital. After a “boost” of more stem cells with lymphocytes included in December, she finally began to see improvement in her cell counts and was able to fight off the adenovirus and begin healing. Almost a year to the exact day from when she was admitted for RSV, she was able to be discharged in a truly full circle moment. She is still struggling with some lingering side effects from her treatment. The medication they used to fight the adenovirus damaged her kidneys, she is still on TPN after having many GI issues, but this is all slowly improving. She is making so much progress in PT, OT, and will be starting speech. Throughout all of this, she has been the most determined, strong, brave little girl. She was and is almost always smiling, silly, and happy. She had so many reasons to give up, and she truly touched the hearts of every person she has met in her journey. We have always called her our little sunshine, because her personality is exactly that: pure sunshine. Her diagnosis changed her future. It added more complications. It gave every reason for us all to just hide in the dark. But our little sunshine, Charley, is proving that even in the dark, you can still have the light, and that’s what we’re choosing to see.
Charley Larson
Gene: TERT
