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Genetics Appointment

Posted Jan 15 2009 11:47pm

Today we had appointment with Violet's Geneticist.

She told us that she can choose 2 of her patients to be presented at the next annual Geneticist's Conference at the end of February. As Violet's case is very complex, she has asked our permission to use Violet at that presentation. Alot of the Australasian Geneticist's will be there, so it will be a good to hear their input on Violet.

Alot of Violet's teeth on the left side of her mouth, that should have already come through, still haven't. She has been referred to the Dental Clinic at the Children's Hospital on 2nd April, to investigate this further.

Geneticist now thinks that during Violet's embryotic stage, some of her body cells had an abnormal gene controlling Vascular Development. This is evident with her Vascular Malformations over alot of her body. Her eye condition and her brain hemorrhaging, resulting in her hydrocephalus, is likely to be secondary to a disruption of vascular supply.

She would like the Vascular Birthmarks Clinic to do some imaging, to see if there are any other underlying causes, which may have added to these events or cause it to happen again in the future.

The Vascular Birthmarks Clinic will be seeing her on 7th March, to meet with a Dermatologist and Radiologist.

She also asked that Violet have a Spine X-ray today, as she thought her spine didn't seem to look central. Spine X-ray came back all okay.

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