Arwen is a seven year old girl who lives in Neepawa with her brother, Graeme, and her mom and dad. She attends HMK school where she is in her second year of kindergarten. Arwen loves to swing on her back yard swing set, is always keen to go for a drive in the car, enjoys swimming, and will sit looking at family photo books endlessly. If you don't see Arwen coming (perhaps on her tricycle in the school halls), you will definitely hear her. Her hoots and laughter –- along with a few ear-splitting screams –- are unmistakable.  

We first began to suspect that something was different about Arwen before she was one year old. She was missing developmental milestones like sitting up, holding on to toys, chewing food, and early signs of communication. On our first visit to a pediatrician we were told she had low muscle tone but that there was nothing else to worry about (other than that she might not play on the football team!)  

As the delayed development became more pronounced, we looked for more help from specialists (genetics, neurology) in Winnipeg. On a first visit one doctor suggested that Arwen had Downs Syndrome; however, after genetic testing came back, we discovered that Arwen had a chromosome disorder called a translocation. A piece of her third chromosome had migrated to her X chromosome. While many translocations are completely harmless, this particular, and very rare, switch leads to profound and global developmental delays.  

Arwen loves to be around people. She is incredibly social and is almost always in a good mood. She does, however, require full-time supervision at school and at home as she has very limited self-help skills (ie. eating, dressing, bathroom) and safety is always a concern. She does use some signs and a few sounds to communicate. She is working with a picture communication system to enhance her ability to make her desires known. Her low muscle tone makes her a bit of a “crasher and banger”            (maybe the football team is a possibility!); she knows what a soft touch is but doesn't always use it!  

Arwen has received help from Children's Special Services for many years now. Regular visits from physical, occupational and speech therapists have provided us with supports to help Arwen progress and become more independent. This  work continues at school with teachers, educational assistants, resource teachers, administrators, and specialists. We have been very fortunate to have such a wide community of caring people to help with Arwen's care and development.