A twelve year old girl from Coleshill has received a genetic diagnosis for her rare disease, bringing to an end a decade-long diagnostic odyssey for her and her family.
Tegan Court has Bainbridge-Ropers syndrome, a rare condition that was only discovered in 2013.
Many participants have already received results, with all remaining results expected by the end of 2019.
Less than 200 people worldwide currently have Bainbridge-Ropers syndrome, which is also known as ASXL3 (in reference to the gene discovered by two researchers who also documented the range of potential symptoms for those with the condition).
Tegan’s doctor, Dr Swati Naik, consultant in clinical genetics in the West Midlands Regional Genetics Service at Birmingham Women’s Hospital, said: “When I saw Tegan and her family at George Eliot hospital, I recommended taking part because of the possibility of a genetic diagnosis.
“The diagnosis of Bainbridge-Ropers syndrome was confirmed by a mutation of the ASXL3 gene, which is essentially wrongly sending out a ‘stop’ signal, which prevents the gene from working properly.
Tegan’s parents, Nicola and David, said: “When Tegan was two, many of her symptoms were similar to a rare disease called Coffin-Siris syndrome, but we always knew that was just the best guess, based on the information available at that time.
“Getting a confirmed genetic diagnosis ends a 12 year chapter for us but has also started a new one, in terms of finding out more about the rare disease and help that could be available now or in the future.
“Even if it only helps a handful of families, genomic sequencing is still worth doing, as earlier diagnoses often mean more can be done.”
Bainbridge-Ropers syndrome is not passed down from either parent, meaning siblings are highly unlikely to also have the condition.
Currently, the youngest person diagnosed with Bainbridge-Ropers is four, with the oldest 22.
Tegan’s genome was compared with her family and other people with similar symptoms, which led to the diagnosis.
The 100,000 Genomes Project has aimed to analyse and sequence the billions of letters that make up someone’s genome (their entire genetic code), to improve medical understanding about some rare diseases and certain types of cancer.
George Eliot Hospital is one of 16 Trusts that comprise the West Midlands Genomic Medicine Centre (WMGMC), one of 13 Centres across England.
Nationally, recruitment to the 100,000 Genomes has now finished.
The WMGMC was the leading cancer recruiter to the project, and the second highest rare disease recruiter.
Genomic testing for some cancers and certain rare diseases will move into routine NHS care from April 2019, through a national Genomic Medicine Service.
More information about Bainbridge-Ropers syndrome is available at https://www.asxl3.com/blank.