As you can see, I'm not very good at this blogging thing. I find my self getting too distracted by bright shiny things. As of right now Naomi is happy and stable. She is having some problems with her g-tube site and may require surgery to move it, but for now she is happy and healthy. She is currently laying on her play mat chewing on her pj arm and tossing her banana toy (referred to as Naners) around. She gets herself so tickled that she almost can't breath for laughing so much.
I've spent most of the last 6 months with her alone while hubby was deployed and truly found myself bonding with her in a way I haven't over the last 7 years. She was entirely dependent on just me, there was no backup. I made myself slow down, and just be, lesson one from my special little girl. For a type A like me that is not easy, I am usually planned down to the last nanosecond. But I am learning to just be, not stress, not plan, just enjoy my moments with her. Now to take that lesson and apply it to my time with God, which I admit, I more than often don't do. I think it is time the TV is off more than on, and in the quiet time I have I make the time to sit and just be. Thank you Naomi.
Sunday, April 24, 2011
Sunday, April 5, 2009
Update
So its been a long time since I updated. Most of my updates these days are on facebook, since I finally joined. So if you know me, and think I know you, look me up on facebook.
Now on to the update.
It was an amazing visit and I can say your tax dollars are well at work at the National Institutes of Health. We have come away with a better understanding of what is wrong with Naomi and a some suggestions on how to make her life more comfortable. She did throw us for a loop and developed an ear infection and what they thought was an abscess behind her left ear. Praise God! this turned out to be a cyst that was easily removed and not an abscess. This resulted in two days in the ICU there and an extended stay. We got home early Friday morning (1am give or take) almost a week later than originally planned. God does his best work in his own way, as this extended stay ended up being an advantage. There was a Doctor who specialized in copper storage diseases who was able to come see Naomi and who otherwise wouldn't have. While we didn't come away with a definitive diagnosis we did come away with a better understanding of what is going on.
So now I get into the details of what we learned about our beautiful girl. Firstly, as we all know she is one of a kind, truly one of a kind. She is thus far the only human to have her particular copper disease. Basically what is happening is that her liver is not processing the copper she absorbs. There are heavy metals in all our food but the liver usually processes them and puts it out into our bile. In Naomi's case her liver is storing the copper and what it can't store, it is putting out into her bloodstream. It is basically a metabolic problem and they believe it is related to her problems with her pancreas. While they have identified the problem, there is no solution and they don't understand why her liver is doing this. This is why they are looking at all our DNA to see if they can find something that might explain this. Thus far this particular problem has only been found in Beddlington Terriers and Alpacas, and our girl is neither. Sadly there is nothing we can do about either the liver or the pancreas. We will just have to treat each episode as it occurs and monitor the function of her pancreas and liver in between. Because Naomi is the only person to have this particular copper storage problem they are unsure how fast it will progress or what the outcome will be, so monitoring her blood will be very important. In case you are wondering she is not a candidate for a liver transplant. Because they can't determine why this is happening they couldn't say that her next liver wouldn't suffer the same fate.
The good news is that we came away with some creative ideas on how to help Naomi's daily life. We started her on a new medication (a nerve medications) to help with the constant itching which has helped a little. She is at least able to play and focus on other things than scratching which is nice. The Gastrointestinal doctor there suggested we start Naomi on Probiotics which we did and which has really helped. She is still gassy but there is a lot less pain and distention and we rarely find her crying from it. We were unfortunate in that there is little they can do to help her sleep. Her apnea is fairly severe and anything that would make her sleep would depress her respiration rates and in a kid like her that is very scary. The only good thing is the neurontin we started her on for itching does make her a little sleepy, so sometimes she sleeps at night.
I can say that our trip was an incredible experience and we can rest in the knowledge that we have done everything on earth to help Naomi, and so now we just deal with what comes.
Now on to the update.
It was an amazing visit and I can say your tax dollars are well at work at the National Institutes of Health. We have come away with a better understanding of what is wrong with Naomi and a some suggestions on how to make her life more comfortable. She did throw us for a loop and developed an ear infection and what they thought was an abscess behind her left ear. Praise God! this turned out to be a cyst that was easily removed and not an abscess. This resulted in two days in the ICU there and an extended stay. We got home early Friday morning (1am give or take) almost a week later than originally planned. God does his best work in his own way, as this extended stay ended up being an advantage. There was a Doctor who specialized in copper storage diseases who was able to come see Naomi and who otherwise wouldn't have. While we didn't come away with a definitive diagnosis we did come away with a better understanding of what is going on.
So now I get into the details of what we learned about our beautiful girl. Firstly, as we all know she is one of a kind, truly one of a kind. She is thus far the only human to have her particular copper disease. Basically what is happening is that her liver is not processing the copper she absorbs. There are heavy metals in all our food but the liver usually processes them and puts it out into our bile. In Naomi's case her liver is storing the copper and what it can't store, it is putting out into her bloodstream. It is basically a metabolic problem and they believe it is related to her problems with her pancreas. While they have identified the problem, there is no solution and they don't understand why her liver is doing this. This is why they are looking at all our DNA to see if they can find something that might explain this. Thus far this particular problem has only been found in Beddlington Terriers and Alpacas, and our girl is neither. Sadly there is nothing we can do about either the liver or the pancreas. We will just have to treat each episode as it occurs and monitor the function of her pancreas and liver in between. Because Naomi is the only person to have this particular copper storage problem they are unsure how fast it will progress or what the outcome will be, so monitoring her blood will be very important. In case you are wondering she is not a candidate for a liver transplant. Because they can't determine why this is happening they couldn't say that her next liver wouldn't suffer the same fate.
The good news is that we came away with some creative ideas on how to help Naomi's daily life. We started her on a new medication (a nerve medications) to help with the constant itching which has helped a little. She is at least able to play and focus on other things than scratching which is nice. The Gastrointestinal doctor there suggested we start Naomi on Probiotics which we did and which has really helped. She is still gassy but there is a lot less pain and distention and we rarely find her crying from it. We were unfortunate in that there is little they can do to help her sleep. Her apnea is fairly severe and anything that would make her sleep would depress her respiration rates and in a kid like her that is very scary. The only good thing is the neurontin we started her on for itching does make her a little sleepy, so sometimes she sleeps at night.
I can say that our trip was an incredible experience and we can rest in the knowledge that we have done everything on earth to help Naomi, and so now we just deal with what comes.
Thursday, November 13, 2008
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!
Saturday, October 25, 2008
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
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
Tuesday, July 29, 2008
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.
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.
Thursday, July 3, 2008
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!
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!
Wednesday, May 7, 2008
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.
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.
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