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.
