Marianne is a 3 year old girl living in Gaspe, Québec. She has a mutation on the NIPBL gene. Marianne is healthy and does not need medication, although she does present with mild reflux sometimes. She suffers from anxiety and sensory issues. It is a crisis when we need to wash or brush her hair. She also becomes anxious outside if it is windy. She shows some obsessive compulsive behaviours including the need to arrange cooled crayons in a certain way. Communication is Marianne's main challenge and Marianne attends speech therapy once a month and once a week in her kindergarten special education class. Marianne's receptive communication is good and she understands instructions well. She is working on better expressing her emotions through the use of sign language. She says some words but not clearly. We are currently working on: feelings; drawing a face; and, counting one to three. Recently she has mastered the difference between big and small objects and, she understands the spatial environment (including "behind", "under" etc.). This past Christmas she was toilet trained, which we are so proud of. Marianne has a lot of energy but is able to concentrate if she wants (it can be hard during therapy)! She likes to make jokes, be with her friends at school, shopping, drawing, books, stickers, swimming, restaurants, music, hockey games. She loves playing soccer with her brother and has an amazing kick! She loves caring for her sister. She also likes to play with Logic Blocks. She likes a lot the geometry and the game Architek. She is an amazing girl!
(Written by Marianne's mom)