We travelled to Guys and St Thomas hospital in London. We drove as a train journey with Violet would be a nightmare for numerous reasons.
We were met by a lovely geneticist who ushered us into a consulting room. We chatted about Violets birth, both our families medical histories and Violets development and struggles so far. Violet was then examined. Afterwards the geneticist said those daunting words “I’m just going to see if my colleague is available to have a look at Violet too”.
After a second examination and more questions, they both agreed that Violets developmental delays were too severe to be explained by the chromosome disorder on its own. They stated further diagnostic testing was needed including a brain MRI which they were surprised hadn’t already been completed.
The original geneticist then took us through Violets chromosome disorder in detail, how it could affect her and what would happen next. They advised they would complete further genetic testing, starting by looking at chromosome 15 in more detail. They also advised it was likely one of us had passed the genetic condition onto Violet and we would both be offered a test to check this.
We had the testing completed and discovered that I also have the same chromosome disorder. Although it has not caused me any issues except oesophageal reflux.
The results of the further tests showed Violet was unlikely to have “Angelman syndrome” but it doesn’t completely rule it out.
Violet is undergoing further genetic testing called genome sequencing, this is much more detailed and takes a longtime for the results to come through.
Violets condition – 15Q 13.3 Micro Duplication
Link to more information: