Since Violet’s birth and her combination of medical conditions, it has left the geneticists scratching their heads. Yes they have seen these conditions before and some of the together but not ALL of Violet’s together. So we are constantly told “Violet is unique”, “Violet is a special girl”, “Violet is complex” and it goes on and on.
In the past Violet’s Geneticist has presented her as a study case at the Annual Australasian Geneticists Conference in hope that with all their heads put together might be able to explain and make a diagnosis. Unfortuantely, they still had no answer as she fits so many syndromes with some of her conditions but not all of them.
We finally heard word back today from the U.S and whether Violet would be classified with her features for CLOVE Syndrome or Proteous Syndrome, as mentioned in my previous Geneticist Appointment Post. She is very close and does fit some of the criteria but not all again!
He did mention in his letter that as she has Hemihypertrophy, she should be being monitored for Wilms Tumour. Which I had only just read about on the net as in the U.S once you are diagnosed with Hemihypertrophy it is routine to screen for this tumour as it has a close association with this condition.
So we are now at the point of taking a skin biopsy of 1 of the many lumps Violet has under her skin on different parts of her body to look for the PTEN mutation. I have found a couple more on her recently and I have advised her Geneticist that she has two upcoming GA’s and if they can organise the skin biopsy with one of those I would prefer it rather than having to have it done under another GA.