Patient Stories

Keep up to date with all the patient stories across the Central and South geography. 

  • Genomic testing fills in missing jigsaw pieces for family
    A family in Aylesbury have recently received a rare disease diagnosis, after taking part in the Deciphering Development Disorders (DDD) study and 100,000 Genomes Project. Test results for Emilia Burgess, … Read more
  • Usman’s story
    A patient in Birmingham has become one of the first in the country to take part in a national genetic testing project, with the results guiding his treatment. Mohammed Usman, … Read more
  • Leo’s story
    A family in Surrey are one of the first in the country to receive results from a new genomic testing project. Leo Swarbrick, who is 17 months old, was tested … Read more
  • Ilona’s story
    Ilona took part in the 100,000 Genomes Project through the Wessex Genomic Medicine Centre. She told us about how genome sequencing led to a breakthrough diagnosis for her critical illness.