Meet Lorena
Lorena from Madrid, Spain is the star of one of the Rare Disease Day 2019 patient testimonial videos (coming soon!). She lives with Phelan-McDermid syndrome, a disease linked to chromosome 22q13 that affects synaptic reception and impacts cognitive and motor development. For Lorena, Phelan-McDermid syndrome also presents with an autism spectrum disorder, which means that although she is very sociable she can have difficulty relating to others.
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