Category Archives: Rare Chromosome

The blogs in this category focus on the diagnosis of a rare chromosome disorder (microduplication), genetic testing and the rare reality. Additionally, writing content about the assessments, including paediatric, occupational therapy, speech and language and educational psychologist. Furthermore, flying to Switzerland for neuropsychological assessments as part of international research. Likewise, taking part in rare disease research in the UK too, and seeing a geneticist.

Content including rare disease day blogs, such as a day out to London for the Rare Disease Day Reception. Furthermore, outlining the need for coordinated care for rare disease patients.

Lastly, writing about the Rare Chromosome Disorder Awareness Week, and charities who support people living with Rare Diseases.