17 June 2019

16th – 21st June 2019 is the 6th Global Rare Chromosome Disorder Awareness Week – a week with the important mission to raise awareness about rare chromosome and gene disorders, and to shine a light on the individuals and families affected by these disorders. One of those affected families is tranScrip’s Contracts and Proposals Administrator Gemma Veitch whose son, George, has a rare chromosomal disorder.

Gemma recounts, “Following complications during my pregnancy, it was recommended by George’s paediatrician that he received a genetic test. The results of which diagnosed him with an extremely rare chromosome disorder showing a 2.92 Mb deletion of chromosome 15q26.3 and a 5.9Mb duplication of 22q13.31q13.33 or in layman’s terms a bit missing from chromosome number 15 and a bit extra added to number 22. Both chromosomes affected relate to his size and development.

George’s birth weight was 4lb 6oz and at almost 13 months old he still only weighs 11lb 1oz and wears first size clothes. His development is approximately 5 months behind but so far, has reached many of the usual milestones in his own time.

The abnormality is so rare it doesn’t have a name and as of yet we don’t know of any other reported cases globally so the future is uncertain but thankfully George has no health concerns and is the happiest little boy I have ever known so we’re not short of smiles in our home.”

As so much is still unknown about these disorders Gemma is always on the lookout for more information, so if you do have any insights please feel free to contact Gemma at gemma.veitch@transcrip-partners.com.

This week is a great reminder that by raising awareness of what rare chromosomes and gene disorders are and the symptoms, a difference can be made in supporting families of those living with the disorders.