Callie has a story that took a long time to figure out! She was born prematurely in 2015 at 31 weeks and spent 40 days in the NICU. While there, the pediatric ophthalmologist noticed what he thought was ROP (retinopathy of prematurity) and she was treated accordingly with laser surgeries for her eyes within her first 6 months. After the 2nd laser surgery didn’t work, she had genetic testing done for FEVR (family exudative vitreoretinopathy). She began seeing a pediatric retinal specialist and had more laser surgeries on her eyes and a vitrectomy in her left eye. At the same time of her FEVR diagnosis, she was diagnosed with a narrowed bronchus and tracheomalacia and began receiving pulmonary treatment.

In 2017, our entire world changed even more when she fell from a shopping cart and had a TBI. While it was a terrifying week in the PICU of not knowing what would come, we fell into the hands of a fantastic pediatric hematologist. He discovered that Callie had low platelets and treated her for what we thought was ITP (Idiopathic thrombocytopenic purpura). We continued that treatment for over a year, got to a “comfortable” level with platelet transfusions every few months, and were able to check in with a doctor as needed. But before a routine appointment in 2019 for a FEVR laser surgery, the opthalmologist requested a platelet workup for hematology (prior to anesthesia). Platelets came back low again and the hematologist no longer thought ITP was the cause and the surgery was put on hold. Because of her low platelets and combined with her eye respiratory problems, he began researching other possibilities.

Before our next appointment with him and for something we thought was not connected, Callie went to a dermatologist because of abnormal pigmentation on her elbows, cheeks, and ears. She also began seeing an ENT (as a referral from the dentist) because of a “film” on her tongue. When everything was put together, the dermatologist and hematologist instantly recognized Dyskeratosis Congenita and ordered genetic testing. When results came back, the genetic mutation was on the CTC1 Gene and is known as Coats Plus Syndrome (CRMCC). This is the diagnosis that Callie now lives with and has multiple routine visits throughout the year with specialists for each system of the body. She gets yearly MRIs, PVLs, and bone marrow biopsies. Multiple times a year she has blood panels drawn, dermatological checks, and ENT checks.

Since 2020, she has also developed an extreme heat intolerance and began seeing an endocrinologist. In this same time frame, we noticed she was eating less and was more picky about what she was eating. She was diagnosed with MALS (median arcuate ligament syndrome) from the gastroenterologist. This is related to the diagnoses of Ehlers-Danlos Syndrome and POTS (postural orthostatic tachycardia syndrome) and while she doesn’t require treatment for these syndromes yet, she is closely monitored. We constantly introduce new foods to her so that she will learn to eat a variety of things to keep her healthy without causing stomach pain.

Thankfully, all of her doctors communicate often (even those in other states and in different medical communities) and share her records and their own medical research findings. We are so grateful to have the team of doctors we have for Callie that do the best they possibly can for her and continue to research Coats Plus and TBDs. Without her pediatrician and hematologist feeling in their gut that something wasn’t right and that she had too many “small” irregularities in too many symptoms of the body to be ignored, she may not have been tested when she was and would not be receiving the proactive care she currently is.

Callie is now a thriving 7.5 year old who loves to read, playing outside, and walking the dogs. She plays baseball and takes dance lessons and loves to do crafts and create all kinds of art. She’s a social butterfly and makes friends everywhere she goes. She has no fear (which causes us a great deal of panic most days) and loves to learn about everything around her. She loves animals of all kinds, but loves dogs the most and she talks about maybe being a vet when she grows up.