So now what?

So everything on this beautiful girl comes back normal, but we know she's just not normal. With that in mind, tomorrow we meet with her primary Doctor (Dr. E a wonderful amazing woman) to see where we go from here.
For us the daily problems are her bowels and her scratching. After a particularly horrible morning of fighting her through diaper change, and putting clothes on and getting shoes and braces on, I'd had it. So while she was at school I sat down and googled "Liver and Itching" and actually got some decent information. The best thing I found was to try Bag Balm or Udder Butter on her, so a Walgreen's trip and a green tin of Bag Balm and Voila! She's well oiled and seems to be scratching less. For the first time in months, perhaps years, I was able to change her diaper without her scratching every available bit of skin. They even said at school today she was less scratchy. Last night, she even left her left arm in her jammies, something she never does.

While I was perusing the Internet the other day, it occurred to me to use the Internet to possibly help us. Naomi doesn't have a particularly strong diagnosis of anything, as I've said before every test comes back normal. For overall diagnosis , the best they can say is she falls in the Cornelia de Lange/ Coffin-Siris area. Some of her other physical issues are completely off the radar and no one know why it is. So I'm gonna just list her issues and maybe someone will see this and say hey I know what this.

Microcephaly with continued low head growth
Developmental delays
Low set ears
Severe myopia
Possible Cortical Visual Impairment
Small feet and hands
Reoccurring ear infections resulting in tubes
Captodactyly
Hypotonic, severely
Club foot, left
Tethered Cord
Missing distal portion of both pinkies on hands
Sleep Apnea
Reflux
Swallow issues, g-tube fed only
Chronic Constipation with 3 to 6 stools a day
Chronic Pancreatitis with Malabsorption
Elevate Liver enzymes
Had gallstones by age 3 with gall bladder removed
2 instances of unknown internal bleeding, one life threatening

OK I think that was it, Naomi in a nutshell. I'll add and edit if I can remember more.

Yeah!

Well the good news is the tests are back and Naomi doesn't show any mutations on the genes that might indicate CF. Whether or not they want to revisit the sweat test I don't know but at least for now its good news. \
And we needed some good news, its been a rough week or so with me out sick and Naomi developing an ear infection and a yeast infection on her horrible diaper rash. (I both love and hate anti-biotics). Of course this made her irritable and threw off her already off sleep patterns, its been a tough week of her sleeping in the day and being awake and cranky all night. At least she was well enough to go to school today and had a wonderful time. And hopefully a few days of school will help her get her rhythm back.

As for us tonight it is off to choir for the first time in a few weeks and I am looking forward to it.
Thats all for now. Will update when we learn more.