Understanding Rare
Chromosome and Gene Disorders
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Helen Campbell

Hi , Im Helen. My younger son Patrick had a profound speech and communication delay which lead him at be tested at the age of 4 years. This found that he has a deletion 18p11.32p11.21. He also has moderate learning difficulties and some fine & gross motor skill issues. Further testing has shown that my older son appears to have no chromosome abnormalities but that both myself and my father had 16q and 22q duplications; neither of us had any significant issues. My husband and I were devastated by both the diagnosis for Patrick and the way in which it was delivered. Finding Unique and getting that initial communication from Beverly was a lifeline and subsequently Ive been able to speak or email with other parents getting an 18p deletion diagnosis. Professionally Im a Chartered Accountant and privately Im a Cub Scout Leader and School Governor. I joined Unique as a trustee during 2014 because I wanted to use the skills Id learnt to help an organisation which helped me. I am currently Unique’s Chair of Trustees.