Mumbler, Laura wants to raise awareness of Rare Chromosome Disorders by sharing her daughter’s story…
“Isobel was born with a rare chromosome disorder, a duplication on 15q which is associated with autistic spectrum disorder (ASD), ADHD and learning difficulties.
We found out about Isobel’s condition in April 2017 after requesting genetic testing through the community paediatrician as a result of her social and academic difficulties at school. As a de novo duplication, she is the only member of our family affected. Isobel is now 8 and a half years old (the half is very important!) and is currently in the final stages of Year 3. She has always struggled with her schoolwork but has this year, with lots of intervention support from her mainstream school, made positive progress and is starting to close the gap, which is extremely encouraging.
Isobel is verbal, but sometimes struggles to communicate what she wants to say and gets frustrated with herself. Prior to her diagnosis she had been referred to and received treatment from community speech and language therapists for persistent repetition of words. We subsequently found that this was not a physical impediment, but was her way of trying to compose her thoughts whilst talking.
Isobel says that she finds learning tricky and has historically dealt with this by closing herself down to leaning. We have seen progress in this over the past school year by trying to foster a growth mindset in her which values the importance of struggling in learning and persevering when the going gets tough. This has been supported at school and Isobel’s engagement in learning has improved as a result. She has also struggled with social aspects and in particular making and keeping friends, as she cannot always see another child’s point of view. We continue to work hard with her school to help her develop coping mechanisms to overcome this.
We are still very much at the start of Isobel’s journey in terms of trying to understand how best we can help her to develop and eventually live life independently. Despite the challenges and struggles we face as a family, Isobel is a happy child who knows her own mind. We hope that we can help to find out more about Isobel’s duplication, not only to help her, but to help others yet to be diagnosed, overcome barriers to development and learning.”