Update-May 26th

Hi everyone. Last week we met with Genetics and Neurosurgery. They drew blood and took her vitals and they will contact us in person if they discover an underlying syndrome or disorder that can explain her situation as far as things she has going on other than the Dandy-Walker malformation. If they don't find anything they will set up a follow up when she is 6 months old. The 2 main things they normally would think of for her case are Sturge-Webber and PHACE(S), as Eddie mentioned last time. The latter has already been ruled out and PHACE(S) can't be tested for genetically. Officially they don't want to say she has this until they rule out all other possibilities by way of the blood draw...looking at her chromosomes, her DNA... It sounded like in the end if they can't find anything, they will go ahead with a PHACE(S) diagnosis and to us it sounds like the pieces fit for this diagnosis.

The Neurosurgeon didn't really tell us anything new. We still aspire to wait as long as possible before doing the conventional angiogram and/or the shunt surgery. He did explain that the risks aren't as high as we thought they were for either procedure. The doctor did say her head circumference was growing fast enough to give him pause and would like to meet with us again in a couple weeks to see what changes occur.

We started her on steroids to slow the growth of the hemangioma on her face. She will be on these for 3 months and then slowly wean off. Hemangiomas grow rapidly the first year and then slowly decrease in size and color until they are gone (usually by the time the children start school-if its a little later, laser therapy is recommended). The steroids are being given because of the location of the birthmark-it covers one eye and her nose which could cause problems with her vision and breathing. If they do not work well for her or if a need arises for it the doctor will consider laser treatment for these areas as well as her ear.

On a good note-Ava is doing great at home. She has been doing well with the new meds and has not reacted negatively. Nicholas loves on her and wants to give her hugs and kisses or just touch her...no real holding yet:) She snuggles with her Daddy and cuddles with mama too. She is nursing and gaining weight well and seems all around healthy like any other baby. She does know how to get what she needs though and makes herself heard. We just love every minute with her and it's cool to see our family come together every night as we juggle 2 children now.