Wednesday, 25 March 2009

Unique

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.

7 comments:

Hamza Zakir said...

hoping everything goes well for Violet! and thanks for praying for hamza......

Laura said...

While you didn't get all of the answers that you're looking for, hopefully, this new diagnosis will lead to more answers and/or treatment for Violet. I can imagine that this is kind of a scary time for you as you learn more about what this all means and do the biopsy. Please, know that Violet is always in our prayers. And, keep us posted.

Korin said...

You are an incredible woman with such strength!! BIG HUG to you!! Violet could not be in better hands than in yours.

Big brother, Little sister. said...

Oh Sarah what a long diagnosis road you have travelled with Violet....I hope it comes to a stage where you can just enjoy her "uniqueness" and everyone is satisfied with no more pokes and prodding.
thinking of you and the two GA's coming up.

Alison said...

Oh Sarah - sorry to hear you have this added worry of the Wilms tumour. It must be frustrating to not have answers about Violet's condition.

The Sharp Family said...

Hi! I absolutely do not mind if you add me!! I will add you as well! As for our dog, we really aren't suer what she is! When we got her the owners said she was a mix of a lab and a golden. I think that is pretty far off!!! Hope you have a great day!!

Dianne said...

Sorry to hear that you have MORE testing and worry ahead ;-(.

I hope at least they are able to do it whilst she's already under the planned GA.

I hope that there comes a time in the very near future where you have mostly answers and not new questions.

HUGS!
xoxoxoxo