No more waiting !

Naomi was accepted into the NIH undiagnosed diseases program! Now we wait for someone to contact us and set up our trip out to Bethesda. A big answer to prayer!

The waiting game.

Ok, so I know I'm lame. I haven't posted in, cough** cough** three months cough** cough** I kept waiting for some new info and well we don't have a whole lot. Hmmm, Let's see the Nation Institutes of Health's Rare and Undiagnosed diseases program (mouthful I know)is still looking at her, which is a good thing, although fairly neutral since we still don't know if she's been accepted. UCSF is thinking on her and is trying to contact the NIH and have no idea how that is going. So on this front we are still waiting.

I can say the adoption paperwork is coming along. We've finished all our classes and I've started getting background stuff turned in. I'm still working on the homestudy, which is just a ton of questions. But I can understand why, they want to be sure these kids get a good home. So its work work work on the paperwork for now.

As for a good home, my oh my do we need a bigger one. The housing market out here stinks right now, so we feel stuck in our 2 bedroom and we really really need at least 1more bedroom. We are contemplating renting this one out but that just seems like a ton of work, ick. So on this front also we are waiting.

Well thats about it. We did have a great Halloween party last night. Bunch of folks from our home group and some friends from church. I can say by 10pm we were all tired and ready for bed. Getting old stinks. I remember when the evening used to start at 10pm. I guess that was before kids and days that started at 5:30/6:00 in the morning. Sleep holds a lot more meaning than it did when I was young and stupid.

Ah well, we did have a great time visited, ate a lot of food (not enough though I still have leftovers) and played a couple silly games. Oh yes and watched the Corpse Bride and Young Frankenstein.

so I say to you "hrmmmmmm" and hope to have good news later.

Steph

Moving right along

So things are a good right now. Looks like it was the medication from last month, I'm not sure it was compounded right. This months batch seemed to work a lot better.

Kiddo made it through summer school and has a couple weeks off before regular term. We have an appointment at UCSF in a few weeks with a new GI doc. We are hoping fresh eyes might see something.

And even better news, I am getting a mini vacation. A friend of ours is taking Naomi overnight so I can go on a getaway with the girls. Mommy's version of a doctor's appointment. It will involve shopping and eating so I am way good.

On sort of a side note, I'm thinking of taking my blog in a more family general direction. There is a lot going on that doesn't involve Naomi and her health and I really don't want to maintain two different blogs. I'm just not that motivated.

So for our first family announcement, we have started the adoption process! Soon we start the paperwork process!! So papercuts here I come.

Hanging in there

Its been awhile since I've posted as for a short while everything was quiet and not much was going on. Once being diagnosed with generic "liver disease" they put Naomi on Actigall. And after a few weeks it really did help. She could focus on things besides scratching, she was staying awake in school and participating more and in general was a much more pleasant kiddo. You could change her diaper without hands frantically scratching her legs and back. And she wasn't constantly rubbing her legs and feet together. It was nice.

Sadly for whatever reason the last two plus weeks have shown a marked increase in itching and general crankiness. We thought at first it was because of an ear infection she had, but that has since cleared up and she is as itchy as ever. I sent an e-mail to her GI doc and he starts talking about liver transplants and scares the crud out of me. He orders some tests which we had done today, and Praise God! they have come back normal. So what is causing the issue I don't know. I do know that for the first time in months I've had to physically restrain her from scratching because she couldn't stop and was making herself bloody, and that she wakes up just crying and scratching in the early morning. One decision we have made is to go ahead and get an consult to UCSF, her primary doc put that in today so we shall see how soon they can get us in.

Its not always bad, she has her good moments and we enjoy those when we can. For now we pray and keep her as comfortable as possible. The Actigall was working and we can pray it will work again.

I'll post as things go on. God Bless you all!

Not much else to do

So today we finally get this from Dr. D.

Naomi's final blood test result, the Prometheus IBD Serology 7, has just been received at my office and the results are negative. That is, she does not have subclinical Crohn's disease or ulcerative colitis that could cause recurring pancreatitis. This completes an exhaustive work-up for all known causes of pancreatitis and hepatitis. My best guess is that Naomi has a previously undescribed genetic syndrome leading to both chronic pancreatitis and hepatitis. At this point there is no additional treatment for Naomi.

Guess now we just do nothing? What do you do with information like this? I am at a loss.

Bummed

So my excitement at having some sort of diagnosis for Naomi and her liver has been short lived. All the tests done to see what type of autoimmune hepatitis have come back with no markers for that particular disease. So we are left with no clue as to why her liver is the way it is. And it doesn't look like they are going to leave the autoimmune hepatitis label on it either. I talked to one of her doctors who read part of the report where the pathologist at UCSF says "never seen anything like this." Great is about all I can say. We are waiting for a couple more test results to see if she has inflammatory bowel disease but I'm not holding my breath. The question now is if it's time to head down to UCSF and have many fresh pairs of eyes look at her. So much for a diagnosis and potential treatment.

For better or worse, its at least not "normal"

So we finally are getting some answers. Naomi's biopsy came back showing scarring and inflammation. We expected to see a fatty liver due to her malnutrition issues, not this. Dr. D sent the sample down to UCSF to double check and get a pathologists opinion and the best match is autoimmune hepatitis. It's not an exact match, with the patterns I guess, and but all the other tests and what they saw in the biospy leads to an autoimmune hepatitis. We will draw blood later this week to determine which type. I guess its even possible those will come back negative, but this is where everything seems to be pointing. In most cases this disease doesn't show up til folks are in their teens, so she is, as usual, an odd case. Also it is likely that this autoimmune disorder is why she has chronic pancreatitis. Her body is attacking itself.

The good news is finally someone has said to me "we think the itching is caused by the liver." Hallelujah! I've only been saying this for over a year now, and the even better news, there is something she can take to help. Its a bile salt that can help with itching and may even help with the inflammation. And it has few, if any side effects. That she starts right away. The treatment for the hepatitis I'm not sure of, that will be figured out when they get the lab work later this week.

So today I give thanks for a test that's not "normal." We don't want there to be a problem, but when you know something is wrong and no one can figure it out, its so hard. You feel helpless. Now we know where to start and hopefully what to treat to make her life better.

Liver and ERCP

I'm not really sure where to start. I'm pretty wiped right now and have had to fill in so many folks, I really should remember to write here first and then point people in this direction. So, it started last Thursday, Naomi finally had her liver biopsy and an ERCP. A fluoroscope test to see if the ducts near the pancreas and liver are malformed are not. And good news they aren't, all normal. Still doesn't explain her chronic pancreatic problems, but it's one more possibility cleared from the list. The liver biopsy went well and we should hear from it in the next 2 weeks or so.

So the procedure is finished, they check her in to the hospital, run some tests, all is good, its now 6pm and we head home. Get home around 7:30ish. By 8:30 she has a slight fever, by 9:30 we have hives, by 10 pm we are at the emergency room. Five hours of waiting results in the tests saying she has acute pancreatitis, and we aren't "comfortable" handling her case here. (It's a small town hospital and I think Naomi scares them). So its another ambulance ride and this time to Sacramento, finally settled in the hospital room around 8:30 in the morning.

Friday was quiet she slept a lot and seemed to be doing better. Saturday was horrendous. That day was the worst pain I have ever seen this little child in. They keep trying to tell me it was a drug reaction, since she was agitated and crying, inconsolable, and scratching. I kept trying to tell them, this is her reaction to pain, she scratches all the time. They take her off narcotics, I wanted her to have more. It was 12 hours of torture for us watching her cry and nothing helped. They ran a few more tests that all came back "normal" (I would like to add I really really do HATE that word these days). Finally around 7:30 in the evening she calmed. They wanted to tell me it was the benadryll they gave her but that was well over 40 mins before and it went into her central line so it would have had an immediate reaction. I did mention that benadryll makes her awake, but they wanted to try it anyway. I was not lying. Despite having cried almost nonstop for 12 hours, Naomi slept a total of about 3 hours that night. She was awake til 6am. She wasn't in pain by then but she was wide awake. I need a note from my regular doctor that says "Listen to Mama, she knows her child."

Having talked to her regular GI doc on Monday, we think her pancreas sort of "froze" up trapping any bile and causing intense amounts of pain. Around the time she relaxed on Saturday is also the time that bile started flowing from her vent in her g-tube. She put out a ton of bile Saturday night and into Sunday.

Once she was over the pain on Saturday things progressed like they normally do when she has pancreatitis. Her enzyme levels start dropping like a rock, she perks up, we finally fed her late Sunday and she was fine. She tolerated her feeds, her levels stayed lower and Monday we were sent home.

And so what did we learn from this. We learned that if it can go wrong it will, 15-20% of post ERCP patients get an acute flair, that would be us. We also learned that doctors need to listen to the Mama, there were many frustrating moments where I just felt they weren't listening to what I was saying. And finally, I knew this part, but I thought I'd share. Hospital cafeteria's are horrible and the beds are even worse.

I can write all this happily since I can hear Naomi giggling at the TV and rolling around on her mat. She is such an amazing kiddo, you never would have thought she just got out of the hospital yesterday. We are taking the day off today, not because she needs it, but because I need it. She bounces back, I collapse. It is definitely time for a spa day.

The Bed Saga

Sooo, finally got the bed in a giant crate last Thursday. I'm only now posting what happened over the weekend as I needed a few days to forget this whole ordeal. Basically this is how it went.

1. Crate in garage. Very Very large crate.
2. Crate torn down, bed removed with much difficulty. (things like removing wheeles and angling bed just the right way while standing on one leg and balancing a hula hoop)
3. Realization that bed is to big for doors and does not come apart despite what the salesman told me
4. Much sadness and more than a few tears. Good thing is hubby had the decency to keep his thoughts to himself. Probably the fear that I'd stuff him in the crate and send him back with it.
5. Call out to Perfect Gifts (prayer group) and Friends
6. Julie and Lavonne come over to and Joy and her husband Joey come over, prayer answered.
7. For the first time in 30 years the window in Naomi's bedroom is removed.
8. Bed IN! Actually getting the window off was worse than getting the bed in.
9. Whew, no more bed stress til we move and it has to come back out again. Oh the horror.

So that was this weekend. The good news is despite my real fears that she would hate the bed (now that would have seen some real tears) Naomi seems to be OK with it. I do need to make bumper pads as she does roll quite a bit, but no major issues with it so far. I would like to say that she now sleeps through the night, but I can't. I really don't think that was ever a bed issue, more of a brain issue. But at least I know she is safe and so I can sleep a little better.

Getting Somewhere

Ok, this week has been nuts and its only Wednesday. Lets start with the bed, after much wrangling and many many e-mails and a lot more money than anticipated it will finally be arriving Thursday. Is there a bed prayer? After all this I'm terrified she'll hate it. I might cry if she does.

Ok, on to Shriners which was yesterday, no casting! yeah!! New molds for new braces instead, which is fine with me. I'd rather not have to go up there every week for the next 5 or 6 weeks. The hip is still an issue and always will be, but its not much worse and no signs of arthritis. The right hip and her knees are joining the popping chorus but we've sort of decided its a function of her hypotonia and its just the way she is going to be. The back is good, no signs of scoliosis. So Shriners was a good visit.

And of course while I was at Shriners they called from Kaiser, her liver biopsy is March 13th at 11am. So say a prayer for her that day. Unfortunately I will probably have to pull her out of school at least a couple days before just to make sure she stays healthy. For now she is back to school, hopefully this will continue all next week as well.

And a praise, told you this was a wild week. Kaiser is paying for her new wheelchair and it should only be a matter of a couple weeks before we get it. Finally something that so far, knock on wood-say a prayer, is going smoothly with little, highlight little!, work on my end.

Oh and another praise, guess who finally weighed in at 29 lbs! Not me of course, but Naomi over the course of the last month has gained almost a pound and a half with the added olive oil. Hurrah! for olives!

And that pretty much sums up February, lots of phone calls, lots of projects, and finally some progress.

Back to square one

I've been putting this off since I really have nothing new to report. Every new test comes back normal and yet she is 4.5 years old and weights a whopping 28.6 lbs. I'm stuffing her with calories and there is just no weight gain. We add enzymes and 2 months later I don't think she's gained a thing. 'Course it doesn't help that she's been sick again, a week and a half and counting. This cold coupled with a rise in her Lipase has her sleeping a ton and in some pain. I just wish we could find out what is wrong and give her some relief. The talk now is of a liver biopsy since it is again enlarged, but who wants to do that to such a small kiddo. I'm just afraid we'll go through all that and it will come back normal. I'm beginning to hate that word.

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.