Emma McLean, a 6-year-old girl with Mosaic Down syndrome, faces misconceptions about her diagnosis, even from medical professionals. Her mother, Melissa McLean, emphasizes the journey of acceptance and understanding this rare type of Down syndrome. Diagnosed shortly after birth, Emma's family learned about Mosaic Down syndrome, which affects less than 1% of people with the condition. This variant means not all cells have the extra chromosome 21, resulting in varied traits among individuals with Down syndrome. Emma's story highlights the importance of awareness and education about genetic conditions.
Mosaic Down syndrome is a rare genetic condition where only some of a person’s cells have an extra copy of chromosome 21, presenting unique challenges and characteristics.
Melissa McLean, Emma's mother, reported that medical professionals often question her daughter's diagnosis, stating 'She doesn't look like she has Down syndrome,' underlining misconceptions surrounding the condition.
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