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.

Well we will just jump in here. Had a doctor's appointment to follow up for the UTI and the touch of pneumonia and all seems to be well. We went ahead and did another blood draw for the Cystic Fibrosis DNA test as the last test seemed to have been lost. So now we wait, again.

Welcome to our journey. Its already been four years in the making so I'll start at the beginning and we'll go from there. Naomi was born September 11, 2003 on her grandmother's birthday 3 months early. This was a surprise to us all since everything in the pregnancy seemed to be going well so far, but apparently she was in a hurry to meet the world. Naomi did fairly well as a preemie in the beginning but as the weeks went by it became more apparent that there was more than just that going on. Geneticists got involved and to this day we still aren't quite sure what is going on, everything comes back normal, but we know her normal is different from ours. The best that can be said is it is something similar to Cornelia de Lange syndrome or Coffin-Siris.

Anyway she had her first surgery at 6 weeks, a g-tube (feeding tube connected to her stomach) and Nissan-Fundoplication (tied a knot at the top of her stomach to prevent her reflux). Since then she's had tethered cord release surgery, a mediport placed, her adenoids removed, her gallbladder and its stones removed, tubes in the ears, and this summer her tonsils taken out and adenoids removed again. This has all been broken up with varying hospitalizations for chronic pancreatitis, and impaction, internal bleeding, and just being sick. But I tell you what this is a tough kid who always seems to bounce back and is amazingly happy considering.

For those of you involved in our lives this blog will be hopefully be the best way I can tell you what is going on with her. So many times things happen so fast, and those of you who love and pray for Naomi find out after the fact. I can't tell you how much we rely on those prayers and the support of our family and friends who love Naomi and understand what life with her is like. So a big part of this is for you too, so you can be a part of that journey we started four years ago, however long it lasts.