Charlie was diagnosed in 2020 when Charlie was 2 years old. He had a wonderful medical team who pressed for answers when he wasn’t meeting milestones. Through early intervention and a developmental pediatrician, he was given a genetic screen just to rule out any potential issues - and surprisingly found PTLS. Of course, no medical professional that we spoke with knew anything about PTLS so it was amazing to meet with Dr. Potocki later that year.
Tell us about Charlies diagnosis.
Could you please describe your feelings when you received Charlies diagnosis?
Relieved to have answers and a diagnosis, but terrified by the lack of information or understanding of what this meant for my child’s future. It was scary and upsetting and we learned to live in the moment and celebrate all that Charlie is.
What Difficulties does Charlies face?
Speech, fine motor coordination, fixations, social norms.
What are your worries / thoughts for the future?
My biggest worry at the moment is bullying and Charlie feeling included and like he has a group of friends as he grows up. I’m less worried about his adulthood than I used to be because he seems to take everything in stride.
What kind of things does Charlie enjoy doing?
Right now he is very into airplanes and airports, he loves playing with his sister, swimming, riding his scooter, pretending to be a teacher, playing outside.
Why is research & a potential treatment for PTLS important to you & your family?
If there is anything that can be done to help our kiddos grow and thrive, it would mean the world to every caretaker, so I think having the knowledge that something is proactively being done is very reassuring.
Anything else you would like to add?
Thank you PTLS Hope for everything you’re doing!