Tag Archives: unknown medical diagnosis

Adjustment of a lifetime

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So, I’ve spent a few weeks making a major adjustment. And I mean major. Now that George is under a low-protein diet, life has become interesting.

Some of the adjustments that have been made: no more cereal and milk in the morning, no more bacon and eggs, no more cheese, no more ice cream treats, no more sleep. Just kidding on the last one.

Actually, this diet has been a bugger. I have been letting him sleep in, so that the other boys have breakfast before he wakes up. Then we start with fruits, veggies, applesauce, all in unlimited quantities (unless the veggies happen to have some protein in it). The funny thing is, that I don’t think George ever feels full anymore. And I kinda get why.

I mean, what’s more satisfying than a piece of toast, or a serving of pasta, or a nice, juicy hamburger? All which are now off-limits (at least in any significant quantity).

Now, to clarify, this isn’t just a diet that I can decide that it’s not worth the effort and let him slide on. We are very, very fortunate that we’ve caught it this early on, and any damage done he should be able to recover from. In fact, I’ve already noticed a change in energy, balance and we’ve added two new words consistently: “Hi!” and…”MOM!!!” WOOHOO! Talk about a sweet sounding word! Of course, his favorite is still “Dad,” but at not-quite-2 I can’t fault his taste.

When we returned from our last conference serving on the American Farm Bureau Young Farmers and Ranchers committee, there were a few letters waiting for me. One gave us the tentative diagnosis (we’ll be completing the genetic testing in April) of Ornithine Transcarbamylase deficiency (OTC). The other was our “free pass” at the ER.

You see, OTC apparently isn’t something you can mess with. Through all the mysteries of what is happening inside of George, when he’s not breaking down the protein and things start to build up, ammonia levels in his blood can start to climb…and that’s not good.

So now, I carry a letter that states that if we happen to be in the ER, George must receive immediate attention, starting an IV drip of [insert lots of medical numbers and stuff here] immediately, removing him from all protein, and THEN wait for the blood work to come back.

What does this all mean?

If George gets a fever, vomits, seems more tired than normal, it becomes an emergency. An easy to fix emergency, but an emergency none-the-less. They like to drive that point home by having you read all sorts of scary stuff.

Thankfully, we’ve been blessed with a pediatrician that seems to be really willing to work with Mayo and become very active in George’s care. The big question has become, “Do we live close enough to a medical facility?” Ugh. That’s a tough one. We’re still working on the answer.

But, for now, we have a plan, we have a direction and we have some pretty quick results already. That’s enough for me…at least for today.

I’ll worry about sleeping tomorrow. 😉

Oh, and did I mention that we’ve started calving? May the fun begin! Stay tuned for pics.

Ray of hope

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We had another appointment at Mayo yesterday. For the first time ever, I feel as if we left with a clear vision…a plan, if you may.

In December, George went through a test that checked the level of orotic acid in his urine. Apparently this acid level becomes high when you are unable to break down proteins. Having a high level of orotic acid can also lead to having a high level of ammonia in your blood. High levels of ammonia can cause a host of other problems that George does not need to deal with, and will more than likely lead to IV’s and hospitalizations.

So, the only way to keep his orotic acid level lower is to limit his intake of protein. Yep, that’s right, George can’t eat meat.

Well, I shouldn’t say “can’t.” He can eat SOME protein, just not much. We are limited to 9 or 10 grams of protein per day. And let me tell you, that’s not much.

For example, one cup of 1% milk contains 8 grams of protein, 1/4 cup mozzarella cheese contains 7 grams protein, a slice of bread contains between 2 and 5 grams of protein, a 4 oz. hamburger patty contains roughly 28 grams of protein, a large egg contains 6 grams protein. Check your labels, you’ll be amazed at what has protein in it.

As difficult as it will be for me to switch up my cooking and meal preparation, the great news is that by changing his diet, George will feel better, should catch up developmentally and hopefully no permanent damage has been done.

See, if we hadn’t been persistent in making sure they were checking out the possibilities, there’s a really great chance that this could have been missed. In fact, the first time they suggested testing his orotic acid, the doctor specifically said that she didn’t suspect anything would show up. Then, when it did, she figured the test was a fluke and that the second test wouldn’t be high. And then, when THAT one was, she suggested that we run the allipurinol test, but didn’t know if we needed to rush on it. Since we were already at Mayo, I encouraged her to go through with the scheduling. That was December, and here we are now.

Now, sometimes they don’t catch these deficienicies until there are very significant delays. And for the most part, George doesn’t have any significant delays…at least none that would normally raise any flags. But the fact that we are able to get ahead of this and hopefully prevent anything catastrophic from happening…well, that’s big.

So now, we sit and wait and see how it goes. We should be getting a shipment of his “medical food” sometime this morning. (Since milk is pretty well out of the question, we’ll now be on a special formula to replace it. It’s amazing the stuff they have out there!)

We head back to Mayo in April to recheck everything and see where we’re at, but I’m confident that we’ll have some big things to share. And I can’t wait!

Now, don’t get me wrong, the irony of a cattle producer’s son who can’t eat meat isn’t lost on me. But when you’re a parent, you quickly learn that you will do whatever is best for your child…no matter what.

And I wouldn’t have it any other way.

Preparations

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We head to Mayo tomorrow. It’s hopefully time to finally get to some answers. Poor kid has been through the ringer, and all before he turns 2. I’d complain about the fairness of it all, but we all know that fairness doesn’t play into these things.

Anyway, while all this is going on, we’re still at the mercy of winter, still have cattle to care for and still have chores that need to be done. Which means we start planning now, preparing for the worst, hoping for the best, making sure that everything is in place, so that if (I should say when) it snows while we’re gone, it’s not a lot of extra work for whomever is helping us out.

So Boss Man is off, getting things ready. I’m packing bags for all of us, arranging staying places for the other three kids, arranging back ups, in case someone is sick, and the back ups for the back ups, just because we roll that way! Planning out time of departure, time of arrival, places to stay in Rochester, what mode of transportation to take, etc., etc. Like planning a great vacation, minus the fun and vacation!

And just when I thought I had it all planned out, up pops another problem. Our deer situation has gone from kinda crazy, to absolutely unbelievable. It’s hard to even imagine saddling someone else with this issue while we’re gone, so we’re trying to do what we can to help the situation out.

Here’s my latest shots, without any voiceover. I think it speaks for itself:

I’ve contacted the proper authorities (probably even a few that could care less), shot footage and sent e-mails. I’m not sure what will happen from here on out, but I know we’re working on it.

I will try to keep everyone posted on how things are going. And we’ll hopefully be home before we know it. I’m also wishing that maybe we’ll be a few hundred deer shorter than where we are now!

Every parent’s nightmare

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I apologize for a few days of silence…again. But, as a parent of small children, I just go where life takes me. This week, it took me to a place I never care to go again.

I’m going to replay my Tuesday, Jan. 18, 2011…more for a written memory for George, than anything. That way, when he’s a teenager and I’m wondering why I’m completely gray, I can look back at this blog and pinpoint the exact date each gray hair appeared. On Tuesday, approximately 57 of them popped in…actually, it was probably Wednesday.

Tuesday started out as a regular day. The weather was kind of bad, and the roads weren’t in the best of shape, so Mark ended up taking the boys into town to meet the bus. (Yep, in the tractor, isn’t Midwest life grand???)

George was to have the child-development/speech therapist come do her weekly visit that morning, but with the roads the way they were, we decided to push it back until after lunch. When she got here, we played a bit, but George wasn’t himself. After about 45 minutes, we talked about his upcoming Mayo trip and our plans for the future.

After she left, I planned on giving the boys a snack, then laying George down for a nap. Well, he dozed off while eating his snack, so I let him rest in his highchair for about 45 minutes. Thanks to EJ, he woke up with a start, but seemed a little better and wanted to play a bit. About an hour later, he was standing in the kitchen, when all of a sudden he just dropped to the floor. He cut open his lip and cried a bit, but I put a cold wash cloth on it and thought I would just keep a closer eye on him.

(One of our on-going issues has been his lack of balance at times. He has a tendency to run into things and bruise himself, but this was the first time that he just flat-out dropped.)

About 4 p.m., George seemed really cranky again, and very out-of-sorts, so once the boys got off the bus, I laid him on the couch to watch a cartoon for a bit. I thought he would rest a few minutes, and then be in a better mood. He dozed off, so I went to the dining room table to fold laundry. At about 5:30, I heard a noise that made the hair on the back of my neck stand up. I will never forget it as long as I live.

I ran into the next room and saw him lying on the couch, completely blue, stiff as a board, foam coming out of his mouth, eyes staring blankly into space. I grabbed him and ran into the bathroom, grabbing the phone on my way, dialing 911.

Now, before you think I jumped the gun, let me tell you that I am familiar with seizures. Big Bro has epilepsy and takes medicine for it. He had grand mal seizures from the age of 6 months until he turned 2 1/2. He would have seizures out of the blue, without rhyme nor reason, and they would sometimes last 3 or more minutes. But it wasn’t like this. Something told me that we needed help.

As I was talking to the dispatcher, I swept his mouth, making sure that he hadn’t accidentally swallowed something, or wasn’t choking, etc. As I was talking to her, (about 5 minutes had past) he seized again, this time more violently, and lasting longer. (Although, still probably only 2 minutes, but at this point, time seems irrelevant.)

It dawned on me that Mark didn’t know what was going on, and although he was feeding cows, he would probably be somewhat alarmed to be notified of the ambulance showing up by watching it come down the driveway. So I went into the kitchen, dialed his number on my cell phone and had Big Bro tell him that he needed to get to the house NOW, because the ambulance was coming for George.

Now, at this point in time, I’m beginning to come apart a little bit. I was doing my best to keep things together, but I had a feeling in my gut that things weren’t good. I had been finishing up supper, I had three boys that I was trying to keep calm and in the other room, and I had a little one that needed some serious intervention.

That’s when I noticed that he was starting to feel very, very warm. Mark finally got into the house, and since he had just come from outside, I handed him George, thinking that it would help cool him off. I grabbed the thermometer and took his temp, 103.8. At that point, we decided to lay him on the washing machine in the entry way, since it was the coolest room in the house. George was making noise, and moving his head somewhat, but his arms and legs were still very stiff.

When the ambulance arrived, the staff checked him over and assessed him the best they could. It was a consensus that he probably had a febrile seizure, but that I should call his pediatrician first, before they left, to make sure that he was OK with us keeping him home.

He wasn’t.

With George’s history, nothing is ever as easy as it seems, including seemingly innocent febrile seizures. (Which, by the way, aren’t all that uncommon, but still scare the beejeezus out of any parent.) So George and I headed to the hospital.

On the way down, George’s O2 sats would drop to the high-80’s, prompting him to get a nice blow-by of oxygen. (The friendly EMT is actually a old family friend, and he made a comment about meeting our deductible early this year, to which I replied, “We met our deductible about 10 miles back.”)

When we arrived in the triage unit, the doc met us immediately and ordered blood work, chest x-ray and then some tylenol to bring down the temp. At this point, it was already down to 102.9, but we tried the tylenol, which promptly came back up, and all over everything. (Note to self, next time just do the suppository first.)

The strep fast-test came back positive, prompting a night’s stay for observation and some antibiotics (at first prescribed orally, until I reminded them about the whole tylenol fiasco). I remember the ER physician remarking that we would be home in the morning, “unless something else happens, then you may have to have a spinal tap done, but don’t worry, it won’t.” I hate it when doctors say that.

We were checked into our room, met a wonderful nurse named Sarah, and proceeded to get ready for the night. (It was about 11:30 now.) Just as she came into the room to give another dose of tylenol, she checked his temp (100.9) and he began to seize again. Things moved pretty fast then. Two more nurses were promptly in the room with the push of one of those scary buttons, oxygen was administered, as well as suction prepared in case it was needed.

In all, the third seizure lasted less than 30 seconds, but it was enough to make me realize that we weren’t just dealing with a fever. 100.9 is barely considered a fever, let alone something that should make someone break their seizure-threshold. (Something I learned when dealing with Big Bro’s epilepsy: Everyone has a seizure-threshold. Most people have very high thresholds…meaning that it takes quite a bit to induce a seizure. People with epilepsy have lower thresholds…meaning that little things can cause the same reaction.)

After things settled down, the pediatrician was called. The ER doc was right…at 12:30 Wednesday morning George had a CT scan, followed by a spinal tap at 2 a.m. It was decided that we would begin treatment for meningitis immediately. According to pediatrician, meningitis is one of those diseases that if suspected, you treat for it while waiting for test results. We would be in the hospital for 48 hours minimum.

Well, long story short, we were released Thursday evening. All blood tests came back negative and the spinal tap came back all-clear. It was decided that George’s seizures are related to his complicated neurological/pituitary/growth hormone/something-or-another whatever they’re calling it now. We’ll head back to Mayo on Tuesday and see where we go from here.

He’s been treated with enough antibiotics to kill off any unsuspecting bug in his system…with which I’ve tried to come back with yogurt, to help out his poor guts and bottom. And so far, we’re doing good.

I probably didn’t need to call the ambulance…but it wasn’t a risk I was willing to take. I’m sure most parents understand where I’m coming from on that note.

I’m now a little leery about putting him to bed. I watch him carefully during naps. I check his temp frequently. I’m sleep-deprived and struggling to keep up…but someday I will look back on these days, not all that fondly, and just be glad that we made it through.

I was talking things over with my sister-in-law, and she’s right, we are blessed. Yes, George seems to have some problems that they can’t figure out, but so far, you wouldn’t be able to tell by looking at him. We’re very lucky. It could be so much worse.

Little brother (George), looking up to his big brother, wanting to farm, just like him.

And for that, I thank God for all that we have been given…we’ll take tomorrow as it comes.

The season of giving

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We are sitting here in Rochester, xrays yesterday, an appointment or two this morning, more this afternoon. While watching a commercial in our hotel room (Boss Man and George were both snoozing), a thought crossed my mind.

It wasn’t just a thought, though, it’s become an obsession of mine…and I’m wondering what it would take to put it into action.

I was watching a re-run of Extreme Makeover: Home Edition on CMT when a commercial came on. It showed a poor kitty with a cast and a forlorn looking puppy, claiming to need your money to have a happy Christmas. And it bugged me.

Now, don’t get me wrong, I fully understand the need for shelters and places that will take care of animals that have nowhere else to go. I fully support each and every person donating time and supplies and funds to local shelters, where they can see their money doing good work.

My issue is with organizations, such as HSUS, who spend a majority of their money on other things, such as lobbying, rather than actual care of animals.

Why is it bugging me?

Here I am, sitting in one of the highest regarded care-centers in the world. I’m trusting them with my 19-month-old son’s future, and the physician (who is respected in her field of practice across the world) looks me in the eye and says, “Your son, he puzzles me. I have no answers.”

And I wonder to myself, how could the funds that HSUS is wasting on high-rises and pension plans change that answer?

I watched the Extreme Makeover: Home Edition episode. It was about a child with cancer, who makes bracelets to help raise funds for cancer research.

Here, in the middle of the episode, runs a commercial to “help” animals by donating money every month to an organization that does very little to help any true hands-on facility. They want you to look at these poor kitties and poor puppies and feel guilty for spending a holiday warm and comfy, when they don’t have such luxuries. But all it did was make me mad.

Here, during a show that told the story of children that may not see Christmas, that may have to spend their holiday in the confines of a hospital room, they want you to send money to lobbyists? Gives you the warm fuzzies, eh?

We continue our appointments this afternoon, with the next on the list being a neurologist. I don’t know where we will go from here, but I’m almost certain that we will be fortunate enough to leave here in the next day or so. We may not have answers, but we will be home and we will be together for the holiday.

If you must give money to animals, and wish to do so every month, please, consider your local animal shelter. At least you’ll know where your money is going.

And if you feel even more giving, perhaps donate your funds to medical research. Some families are not going to be as lucky as we are. But if enough money is donated, maybe there will be fewer I-don’t-knows and more here’s-our-plans.

That’s my Christmas wish.

Sure is Monday

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Yep, Monday reared her ugly head. Went to have Eli’s pre-appointment blood work drawn, and decided to kill two birds with one stone and take Evan in to have him checked over. (We’ve spent a lot of time on antibiotics lately, 5 days of amoxicillin, 5 days of zithromax.)

The tests came back and Evan has strep. Woohoo! We won the jackpot! Ten days of augmentin! Yippee! If that doesn’t give him a flaming case of antibiotic butt, nothing will. Yogurt, here we come. (Normally meds don’t make you jump for joy, but when you can’t do anything else, you might as well celebrate…right???)

Eli has a double ear infection. No big deal, since he’s not symptomatic, but we’ll have to watch it. (Much like our animals, I don’t give my kids antibiotics for no reason.) But the fluids could be part of the reason that he doesn’t talk. Sooooo…just because it’s Monday, we got to discuss surgery. Not just one, but two! YAY!

If Evan’s meds don’t work this time (or he isn’t successful in the self-tonsil removal), we’re probably looking at having his tonsils removed sooner rather than later. Since the doctors and insurance companies seem to have a thing going, I’m guessing it will be right after the first of the year. But since we never have any problem with meeting our deductible anyway, I figure, the sooner, the better. (And, by the way, I LOVE telling the office that we have no copay for visits…”Sure, go ahead, schedule 14 follow-up appointments, schedule away my dear!”) Just kidding…kinda.

And in 3 months if he happens to check and Eli is having an infection, or fluid build up, in his ears, we will schedule tubes, health permitting. *sigh* poor kid, can’t catch a break. But out of the last 10 times his ears have been checked, 8 times he has had infections, or fluid. He has only passed one out of three tympanograms, so I guess that’s enough proof for me. Plus the doctor hopes that it may be the key to getting his words to come out. And I’d love to hear “Mama” again! (I’ve heard it once, at a Farm Bureau YF&R meeting, of all things!)

Oh, on a positive note, I got to talk to two lovely ladies about the Humane Society of the United States while picking up my wreath from the local crisis center for their fundraiser. I know of one organization that’ll be short some funds this next month! Woohoo! And, donations are now being DIRECTLY given to a local shelter.

See, Mondays aren’t ALL bad…just mostly! 😉

Quiet week

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Sorry about the quiet week. I didn’t intend to be silent this week, but Mommy duties were hot and heavy. I don’t even know how to describe it all…it’s been…trying, to say the least.

To hit the highlights, we’ve been to the doctor 4 times, including an emergency trip to Mayo, which led to a doctor refusing to see us and a return trip home less than 12 hours later. My anger level hit a point so high, that I was tempted to actually physically assault a physician. And I think she could sense it, because she kept trying to talk to me and explain to me, “where they were coming from.” At that point I had to walk away.

So, to back up and retrace my steps, this is how the week went: George was vomitting excessively during the middle of the night, multiple days in a row. ER visits, tests, doctor appointments, etc., etc. No great improvements. New pediatrician decided that an emergency MRI was in order, waited at the hospital, got the all-clear. Two days later got a call back that MRI was not all clear. Need to be at Mayo ER in the morning for admission. Scramble, scramble, scramble. Leave for Rochester at 9 p.m. on Friday, arrive at 3:30 a.m. Saturday. Get to ER about 9 a.m., wait to see doctor, go through exam and told to go home and wait for appointment in two weeks.

Yep, I lost my cool a bit.

Now, to give the doc credit, we have known about George’s “gaps” in his white matter for a little while now. But the new report wasn’t worded the same way…and somehow the pediatrician here and the doctor there miscommunicated, leaving us with a lot of time, hours and money out the window. (By the way, did you know that we’re in the middle of soybean harvest here???)

The official findings read as such (and I will quote directly): “Abnormal white matter signal is identified in the paritrigonal occipital region bilaterally with a more focal 8 mm signal abnormality lateral to the atrium of the right lateral ventricle.” Going on to say: “Impression: Abnormal exam. Concern for dysmyelinating disorder or storage disease.”

There’s a lot of scary big words in there, and the age of internet doesn’t help much.

Now, don’t get me wrong, I was relieved that George’s condition didn’t need hospitalization at the time…there’s been many times that that hasn’t been the case. But I didn’t appreciate the doctor’s implication that I didn’t do enough communicating to the physicians at Mayo. I also didn’t appreciate the remark that (and again, I will quote her), “We know there’s something in the brain that’s not supposed to be there, but we don’t know what it is. Since you’re already in the process of testing for it, we can’t do much more now. You have an appointment in a few weeks, we’ll see how things go from there.”

So, here we are, at home…which is a very comforting place to be. Unfortunately, my confidence in medicine, and in myself, has been shaken to the core this week. I balance a fine line the way it is, always wondering what is normal, what isn’t, when do I need to be worried, when are things just normal childhood stuff?

If anyone reading this is a neurologist, or knows of a great pediatric neurology center, or has connections to Mystery Diagnosis, please, drop me a line! 🙂

Hey, on a positive note, Big Bro aced both his spelling tests…ahhhh, a nice dose of normalcy. What a feeling!