Seems we will never get to the bottom of why Violet is the way she is...
Even though the conditions she has are known individually, it's her bizarre combination of them all together that makes her so unique. I have to you tell you I have heard the word Unique too many times since she was born.
The one thing they seem to be most interested in is her Vascular Malformations.
As previously posted Geneticist feels what may have happened is that during Violet's embryotic stage some of her body cells had an abnormal gene controlling growth and vascular development. This is very evident in her overgrowth of her left to her right side of body and her vascular malformations over her face and alot of her body. This then caused her to have a disruption in vascular supply resulting in secondary conditions: Microphthalmia and her brain hemorrhaging and causing her Hydrocephalus.
Only had 6 dermatologists + Geneticist today which we were glad about as Violet was a little more hesitant in cooperating with them this time, but with some bribery we got there and she managed to be still while they examined her.
As also mentioned in my March 08 Genetics Appointment post, they sent off Violet's bloods to the U.K to test, this was for PTEN gene and these have recently come back negative however sometimes it doesn't always show up in bloods and a biopsy needs to be performed aswell. After discussions today though I am still not keen to resort to biopsy of Violet's lumps just yet, as it is an invasive procedure and of course would require her to have a GA, would prefer to do that as an absolute last resort.
Her Geneticist told me today that she also fits alot with Proteus Syndrome but still not all of the elements and of course alot of cases are very extreme, for those who do not fit all these elements can fit into another syndrome that is quite a newly founded syndrome called CLOVE. She is emailing a letter to a Geneticist in the U.S that has alot of expertise in these syndromes. If he feels Violet is suitable he may decide to include her in his study of people who have CLOVE syndrome and then tissue samples will be sent to him for further testing.
Just feels so weird to think she would be considered for either of these syndromes, even though she has alot of similarities, it's like we are clutching at straws now?
So as usual the search for Violet's diagnosis continues...