Miyuki (Mimi) is a 7 year old girl who was diagnosed at 2.5 years old. She has a change on the HDAC8 gene. She had hearing loss and wore hearing aids for a few years. She’s had tubes put in twice in both ears but her hearing has improved over time. She had partial Atrial Ventricular Septal Defect (AVSD) and had open heart surgery at 5 years of age. She has focal dystonia in her hands and feet for which she takes medication daily to stop the cramping. She is mostly non-verbal but likes to sing and says two to three words sentences. The challenges we face as a family with a child with CdLS is communication. We have become good at knowing what Mimi wants but there are often times where it’s difficult to communicate, especially when she is not feeling well. The other challenge we face is fitting in her neurodevelopmental therapy, speech, occupational and music therapy while also making sure her younger sister doesn’t feel left out. We want to have our attention divided equally amongst them but it doesn’t always work out that way.
What I love most about Mimi is her happy disposition. She wakes up almost every day giggling and smiling. Her smile is the sweetest. She is very easy-going. She loves her younger sister. Mimi loves music. She sings “jingle bells”, “let it go” and hums the tune to many songs. She likes to doodle on her etch-a-sketch or just a plain piece of paper. Her first love was little cars but she’s kind of moved on to plush kiwi toys from Ikea.
(Written by Mimi's mom Sarah)