My son has complex needs that impact his development and learning. Over the years, he has received multiple diagnoses, commonly seen in people with 16p11.2. (Although conditions can also vary).
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.
Rare Disease Day 2021
Today is Rare Disease Day 2021, a day to raise awareness about rare diseases and the lived experiences. Likewise, as part of rare disease day recognition, the theme of this year is rare is many, rare is strong, rare is proud.
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A Rare Journey
It is time like these where I have a chance to sit back and think back on our experiences of research on 16p11.2 micro-duplication.
