It has been a little over a month since we were finally clued in to what was going on with George. It’s been a few weeks of trying to find our groove, feeling our way along and doing lots, and lots, and lots of research.
What I found hasn’t been all that encouraging, but if you are prepared for the worst, than anything above that is excellent…right? And either way, having some idea as to what is going on is WAY better than fighting some unknown. Trust me on that one.
I have spent countless hours on the phone, trying to figure out the logistics of George’s “medical food” (which has been an absolute nightmare), arranging for our emergency care plan (hopefully it will get old and dusty and never need to be used!), and educating quite a few medical personnel on a rare condition called ornithine transcarbamylase deficiency. (If I had a nickel for every time I was asked to spell that this week…)
But, with the bad comes the good. George has had a GREAT week…and we’ve added another word to his vocabulary! He now says, “More,” while signing it. It’s GREAT!
Because I’ve been asked a lot about it, I’m going to give you a quick run-down on OTC. Here are the facts:
- OTC is a rare metabolic disorder, usually genetically inherited through the mother
- OTC affects the body’s ability to get rid of ammonia, which is a by-product of breaking down protein. Since the body can’t get rid of the ammonia, the levels increase in the blood, causing the most damage to the brain.
- High-stress episodes can cause the ammonia level to spike, things that we need to watch for, and seek immediate treatment for, are: fever of 101 or higher, vomitting, lethargy, hyperactivity, etc.
- Treatment includes immediate IV fluids during episodes to lower the ammonia levels, low-protein diet, and sometimes medications. (The low-protein diet will be life-long. Although, as he grows, we should be able to add in more protein. Right now we are at only 9-10 grams of protein per day. The “medical food” provides the rest of the essential amino acids that are needed to grow and sustain life.)
- The only “cure” is a liver transplant, which is a drastic step, to say the least.
If we follow the diet, make sure George takes his supplement, and are very diligent during times of illness, George should have a very normal life, sans meat. So that’s what we’ll do. (You can read more here.)
I will admit, though, that this week has not been easy for me. I’ve been in a bit of a dark place these last few days. The weather, lack of sleep, lack of interaction with others, fear, anxiety, anger…you name it, it’s hit me. But I promise this week will be better.
It’s up to me to make it so.
Wag'n Tales 
Hi Val,
I’m very interested in your info. I don’t know if you knew o not but I was diaganosed with celiac disease just before Christmas, which means NO more wheat/gluten products. I have found a couple of stores here which carry organic & gluten-free products. Don’t know if they would have any of your protien-free products or not? Sprouts Market is the closest one , only thing is we will be leaving here tomorrow a.m. Give me a call if youget this before noon and I could check for you if you find something there tht would help save a little postage. Take care will be seeing you folks up there soom. Rachel
Thanks, Rachel, for the offer. I didn’t get your message in time to call, but I’m hoping that there may be a connection that my sister has with someone who can order in specialty foods. Most of the products are only available through “medical food” sites. Although some of the gluten-free stuff is lower in protein than regular items.
Oh, and don’t forget to bring some nice weather back with you! 🙂
Val-
I shared your information with some of my school health counterparts in the State Department of Health. They then shared it with the CSHS team at Dept of Health. They also shared your story and info with the newborn screening director since it was related to a urea cycle disorder. I am not sure what they can do, but I wanted them to know that their urea cycle disorders on the ND panel may not be comprehensive.
I am glad to hear that things are beginning to jive. Please remember that he is a treasure, a gem, a rare gift and he will bring great joy and learning too all of you in many diffferent ways!
Thank you so much, Katie, for passing on the information. I’m hoping that some real changes can be made, so that the next family doesn’t have such a fight on their hands. And, yes, I definitely agree that he has taught us so much more about life already. I can’t wait for the next lesson!
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