Thursday, 24 September 2009

Genetics Appointment

After 4 years of holding Violet down for most of her consults, lately I really have been thinking to myself...how much more can I cope seeing her being put through tests, treatments, ops, being poked and prodded...especially when we never seem to be able to get to the bottom of why Violet has so many different medical conditions.

To be told constantly you have a unique and complex child and they want to keep seeing her because of this uniqueness in a search to find answers, sure doesn't make you feel special...it just really gets you down.

Today at Violet's Geneticist consult, we received part of the results from her recent skin biopsy of the lumps Violet has under her skin over various parts of her body. At this stage they appear to be Myofibromatosis under the microscope but we are still waiting for some DNA testing results to come back from this biopsy aswell.

She will continue to monitor Violet for Wilms Tumor over the coming years as mentioned in last Genetics Appointment post.

As we were going through all of Violet's conditions, we got on the topic of her Hydrocephalus and I mentioned she had been having headaches everyday for the past 2 weeks. She wants me to keep a diary of them as she is concerned it could be the start of a problem with her shunt and get her Neurosurgical Appointment that was due for January 2010 brought closer. Fingers crossed everything is okay!

While discussing Violet's development, I told her that our speech therapist from The Spastic Centre had also referred Violet to the Cleft Clinic at the hospital to look into whether Violet has a submucosol cleft as she thinks she talks hypernasally. So, I managed to sneak in the back door (so to speak) as Violet's geneticist got me into the clinic today so they could do the assessment, otherwise we would have had to wait until May 2010.

Senior Speech Therapist in the Cleft Clinic said he thinks her speech sounds reasonably good and didn't think she spoke hypernasal. He said he doesn't think she has submucosol cleft but also added that he could be wrong!? Talk about a mixed answer!

He said if she does end up having her Tonsillectomy and Adenoidectomy to contact him, so he can organise for the ENT to have a good look to see if she does in fact have a submucosol cleft.

Geneticist will phone me with DNA results as soon as she gets them...

6 comments:

Teri D said...

Love the new look, she is a beautiful little girl.

Carla said...

I hope you get the answers you are looking for. It must be frustrating to keep on going to one doctor after another.
I love the Dr. Suess quote on your blog! It should be made into a t-shirt!

Laura said...

Hey Sarah. Your new format (the big picture) is cutting off your post, at least for me, on Firefox. I can't read the start of the post or the post title. :o(

Sarah said...

Laura, Sorry...must be a firefox thing!

Carla, I agree that Dr Seuss quote is fantastic!

Alison said...

Sorry you still don't have answers. I know what you mean about how awful it is to hold them down for tests - I had to hold Ashlea down today for a blood test - not fun.

I hope the headaches aren't shunt related.

Big brother, Little sister. said...

Love the new look too! beautiful top pic :)

OMG what a mouthful of terms to have to deal with! you guys need a holiday! come down to Melb! Bron