Monday, January 18, 2010

My Porcelain Doll

Guess who turns ONE this week? Yes, I can hardly believe my little Liz Mae is no longer a baby…on to toddler things; it’s very bitter sweet. We’re having a little gathering next Saturday to celebrate; I’ll try to post a quick tid bit on the affair by Sunday. I start my CNA class tomorrow evening so I’m not quite sure how much blog time I’ll have the next four weeks.

Auntie Tricia sent us a fantastic bean bag that Santa said was too expensive. It arrived late last week and the girls absolutely love it! The Paisley Palace ;)

We visited the Special Care Clinic at the main campus of Children’s last Friday for our follow up from the November appointment. We had another round of very extensive metabolic and genetic testing that came back beautiful, according to Dr E. We can now rule out any chromosomal abnormalities along with a genetic condition known as Rett’s Syndrome (she would NOT have been a classic case if diagnosed). All aspects of her brain are also very normal so the etiology of the seizure/abnormal EEG activity is a bit baffling leading the Dr’s to speculate something genetic, probably of a recessive nature, is going on. Another item of interest is her porcelain skin color; she would be a stunning doll model.

What’s next? It was suggested we enter a study with her original geneticist at Children’s, I believe it is called Nexus…something all Trekkie like that. Joe, Ava and I will provide blood samples so they can test our DNA as they match Ava’s symptoms to possible answers. The Dr’s do feel eventually we will have an answer, my hope is to have one by the time Aliza is of child-bearing age. In addition to improving Ava’s quality of life (if possible, once she is better understood) I’d love Liz to have more knowledge to make decisions about her family planning; if she so chooses to have one.

Ava’s weight is also a fairly new concern so we met with a nutritionist. FAT, FAT, FAT…mayonnaise, butter, cream cheese, dairy, nuts – all the things I wish I could indulge in are part of her daily menu. We will be starting some liquid thickener and supplements as I have been concerned for quite some time about the amount of fluids she intakes and the correlation that has with the headaches. Her Medicaid number couldn’t come a day sooner…private insurance will not help us with supplements since she is orally fed.

Today we picked up Ava’s new glasses. It’s an experiment but hopefully it helps her brain better understand her distance vision. She seems to like them and we will see how things go at Anchor School tomorrow.

The girls and I are recovering from a nasty stomach bug that started last Wednesday night with Aliza. It hit Ava early Saturday morning and I was feeling their pain by Saturday night. Joe was spared… Needless to say I am tired of cleaning up puke, doing laundry and the smell of Lysol and bleach.

Hope this finds you all healthy!

3 comments:

therextras said...

Great photos of both girls.

Hope you are all well soon.

Barbara

HeatherS said...

GREAT pics! Happy birthday Liza Mae...I can't believe it has been a year. Good luck tomorrow. Let me know if you need help with anything!

XO-
H

Krista :) said...

Love the glasses...too cute!!