Fevers

Another day of fevers, although not as bad as the last couple days. Hanging in the 38 area, they did climb a bit this afternoon and again dropped to 35.4C (36.5 is the normal area for James) once he was sleeping. Since we’ve been seeing this pattern, I made a point of checking him several times during nap time today, but they did not drop while he was sleeping. He was much more himself today and you would never guess he had fevers

Our Ped called this afternoon. She had checked the computer to see if any results or info had been posted about yesterday, but found nothing. She said she couldn’t wait until next week to find out what had happened so she figured she’d just call. So I told her about our day. She was happy to hear that the Echo was done and will keep her eyes out for it. She will be gone next week so we won’t hear anything until she’s back in two weeks time, unless things get worse and we’re back in hospital. With regards to the fevers she said he’s still borderline of whether it’s just another virus and since he is doing quite well all considering we’ll keep waiting it out for the weekend. If they are still not better Monday then we are to call in and see one of the other doctors in her office. This would be more just to confirm that there is nothing going on in his chest (pneumonia etc), which it does not seem like since he has no other symptoms except the fevers. At that time it will be his call to decide whether to put James on another set of antibiotics. She is reluctant to do this, but they may have to do it one more time before they determine that further investigation is necessary. We continue to pray that they will just go away and it’s something he picked up in hospital, but yet deep down we know James isn’t usually that simple.

The GI office also called this afternoon. It was not my GI doctor doing the Endoscopy yesterday, so now my doctor’s nurse called as they heard the procedure had been cancelled. She had spoken with the doctor and he did not feel that there was any reason that the procedure needed to be rushed and it could probably wait until March, but she wanted to know our feelings on this. We are not willing to wait until March! We have been waiting 3 months for this test to be done and much of James treatment has been waiting on what this shows. As well, unfortunately, we don’t always see eye to eye with this doctor. It was only by my complete insistence that the colonoscopy (scope of the small intestine) was done in August, as he did not feel it would give us any information or assistance in helping James and kept telling us that James’ stools (mucas and blood in them) was just due to a "virus". The colonoscopy is what showed us that James has colitis. This is the same doctor that was overconfident that he knew what was wrong with James before he was diagnosed and did not feel certain tested needed to be done. In the end he was right, they didn’t need to be done, but neither did any of the others, and his diagnosis was wrong. We all make mistakes, I have no issue with that, it’s how we deal with and admit (or not) to our errors that bothers me.

The nurse had no problem with me insisting we wanted it done sooner and told me they could actually have it done this coming Wednesday. This would mean another patient would be bumped back to March so we could have it done. I feel awful for having to make such a decision. I told her at this time I would not want to do this to someone else as we do not know if James will be stable. It would not be fair to cancel someone else and then not go through with it ourselves. She said she would need 48 hours notice and I could call Monday if he clears up. And once again, if he ends up in hospital, to make sure they are notified so that they can try have it done then.

Wednesday, November 29, 2006 - Disappointment

Home again after another long day, especially for James. A long and somewhat disappointing day, but not a completely disappointing day.

James struggled with fevers throughout the morning and was not completely happy. His fevers were not as bad as they have been so I carried on with the process of not feeding him. Rebecca thought it great fun to hide while she ate her snack. Our Ped had said that even if he wasn’t well to still go in with him. They would determine if they could go ahead, as well they could assess him and determine whether he needs to go to Emerge.

James’ procedure was set for 2pm and we had to be there at 12:30pm. We met Rob when we got there and he then took Rebecca home on the bus - a great treat for her, the girls always love going for a ride on the city bus. Unfortunately James’ fever began to climb as we waited. Not having a nap didn’t help, as well I had not given him any Tylenol all morning as I did not know if it was allowed. I know for next time that Tylenol is okay, but not Ibuprofen.

Every person I seen I had to question if the Echo had been booked. Our Ped had called in the morning to let us know that she had been chasing after things during the morning and getting it coordinated, but it still hinged on the anesthetist. My questioning also brought to realization that Surgery was not booked to be there for his G-tube and there was no indication that they were coming. All this after they confirmed with me last week that it was all a-go. In the end all the coordinating possible would not have helped as they called off the procedure because of his fever. They felt it was too much of a risk because we don’t know what’s setting off the fevers and since they are doing a biopsy there will be slight bleeding inside which can do more damage if he had an infection in his blood. They did not feel that this procedure would really help to explain the fevers in any way and was not that important to have done immediately.

BUT ...there is some positive news. They did feel that the Echo might provide further information and that it was important enough to do. So they proceeded to make arrangement to have it done without a sedation with the hope that James would cooperate and lay still. James has always been a very cooperative boy and he did not fail us this time. He lay still for most of the Echo but near the end he had enough, he had not had a nap, he had a fever and did not feel well, and he didn’t like the thing so close to his chin/face. Hopefully they got enough to give us an indication if there is anything to be concerned about. We continue to pray that we will get a positive report back and not have to add one more ailment to James’ long list.

The GI doctor said that she would do her best to make sure that James endoscopy will be re-booked as soon as possible. The current waiting list is 4 months and we will not wait that long. Although we do not think that this scope will make a huge change in James’ treatment, we do know that with James nothing goes the way we expect and so we would like to have this done to truly know what we are up against when it comes to the colitis and inflammation. Hopefully they hold true to their word about having it done soon ... we know all to much about taking the doctors word for it. We have to call them back once we know what’s going on with James, either when the fevers settle or when he ends up in hospital, which gives them much more flexibility on the time they can do the scope.

Once again James’ fever has dropped down this time to 35.1 when I checked him at 9:30. When I talked to Our Ped earlier today she said that sometimes this can happen with infections. Time will tell, we must try to be patient ...sometimes easier said then done!! :)

Tuesday, November 28, 2006

Off to the Peditrician again. This was suppose to be a quick visit to go over the results of the tests that were done on James while in the hospital. But as usual, I arrived with a long list of questions and concerns.

The most important thing we tackled today was the Echo. I explained to our Ped exactly what had happened and my conversation with the Cardiology nurse. She immediately told me that we were told nonsense that we absolutely had to see the Cardiologist first. She also told me that she agreed with me that an Echo was absolutely necessary on James. It being almost 5 o’clock she asked if I could wait while she tried to catch Cardiology before they left for the day. Not ten minutes later she was back, Echo in the works of being organized. Cardiology is able to do it but it comes down to whether the Anesthetist would have enough time, especially considering there was no backup Anesthetist on for tomorrow (which also means that if they are needed in labour and delivery, we’d be cancelled). We have a 50/50 chance of it getting done ... all that in a 5-10 minutes phone call ... and how long did I spend on the phone getting nowhere??

The other important issue we dealt with was the fact that I was not able to get a hold of her when I needed her ... and this is not the first time this has happened. I can’t work on a Tuesday to Tuesday basis; James doesn’t cooperate with such a schedule. I need to have some way to contact her in between if absolutely necessary, and I can’t seem to get anywhere with her receptionists ... the only thing they have learned over the past few months is not to tell me to contact my Family Doctor. That used to be their standard answer. I’m not sure if they stopped because one time I became extremely upset (and let them know) when they told me this, or because they finally clued in that James is beyond our family doctor. I have no desire to get a new Ped. I know what I have now, I really like her, she knows and understands James (as best is possible all considering), I would hate to start over at this point. She gave me two options:
#1. She would give me her home e-mail address so I have a way of contacting her;
#2. She would refer me to another Ped - no hard feelings.
We decided to go with #1, as I really don’t want a new doctor, just one that’s available more then one day a week.

Another thing we did discuss was getting a PIC Line for James. This is a permanent IV line. Someone had mentioned this too us and I had looked into it, but felt that maybe James wasn’t quite at the stage for this yet. As well, I couldn’t find very much information on the risks involved. What’s nice about our Ped is that we’re usually thinking along the same line. As soon as I asked about it she said she was going to suggest he get one. Instead of a PIC Line she suggests a PORT. A PIC Line goes in the arm, up the arm and sits just above the heart. A Port is put in the chest and is buried under the skin. Since I got home I’ve done a bit of research on the PORT and have mixed feelings about it. This is more invasive, but yet longer lasting. Is James really at the stage where he needs this?? We will have to meet with the Surgeon about this, so we’ll see what he says about it.

On another note. James is not doing very well today. Yesterday he started to have fevers. Today they’ve become even worse. While at the Peds he spiked up to 40C, but mostly he’s been hanging around the 38-39C with his breathing in the 54-66bpm area, borderline of hospital. The questions begin again. Is it just another virus? The fevers began 36 hours after he came off the antibiotics, is he still fighting the same thing? Our Ped agreed that he’s border line right now. For now he’s okay at home so we’ll see how he does as it’s hard for the doctors to make any calls yet since it’s only been two days and could just be something he picked up in the hospital. Interestingly, when I went to do his night feed at 10:30 he woke up and his temperature was 34.8C. He was cold and clammy, irritable and clingy. I sat with him for a while and eventually he went back to sleep. If his fevers persist all our work to coordinate tomorrow will be in vain as they will not do the procedure if he is not well.

Thursday, November 23, 2006

Today I took James to the hospital to have his Pre-Op appointment (this is when the go over everything regarding the "surgery" and you see the anesthetist to determine whether the person is well enough to have the procedure). James is suppose to have a endoscopy done (scope of the esophagus, stomach and large intestine), as well as the Echo and also to change his current G-tube to a Mickey (flat cap). Upon arrival I was told that the only thing they had on the list was the endoscopy, the other two were not scheduled. After talking to several different people I was left with the task of calling the other parties involved and making sure that everything was scheduled properly. Lovely that I was left with this task when it was suppose to be done already.

So the rest of my afternoon was wasted on the phone. My Ped. was not available in any way, shape, or form until Tuesday! This is not the first time I’ve run into issues and had not been able to get through to my Ped. She is only part-time and only in the office on Tuesday. As well, her receptionists are not always very cooperative. In the end I told them I wanted them to call Ped. Cardiology and find out what was going on because I knew Cardiology would not listen to me. Well at least they listened to that part because a while later I received a call from Cardiology. This call left me very upset and frustrated. It seems we are always getting mixed answers/signals and we’re always fighting our way to get things done. Peds Cardiology called me to let me know that they had booked an ECG for me sometime in February, at which I responded that I was suppose to have an Echo done NEXT week. Not wanting to get involved she quickly passed me along to the Cardiology nurse who I left a message with. Not long later she calls back to inform me that they have basically already diagnosed James. Okay, she didn’t say it like that, but that’s pretty much what she was getting at. According to her James likely only has a silent murmur since this murmur was not heard during the first six months of his life, therefore an Echo is not needed. My research on VSD’s gave me the same information - they are usually discovered in the first months of birth as these holes are from a child not developing properly in the womb. So she not be out to lunch on that part and I really hope she’s right, but she has not meet James and I gather from our conversation that she had not even seen his file or she would never have so freely made such a conclusion. After telling her that we were told that this Echo would be done she informed me that the hospital policy requires you to see a Cardiologist before you can have an Echo; it simply was not possible any other way. She did not like it when I informed her that James’ had previously been booked for an Echo which we had cancelled and we did not need to see a Cardiologist for that. In the end no matter what I said she insisted that it was not possible and besides there was no room in radiology for it to be done that day. Without my Pediatrician I had no where else to turn and had to leave it at that.

After getting myself under control again I figured the next person I better tackle is the Surgeon to confirm that they indeed do have him booked for the tube change. I had actually already spoken to the Surgeon nurse about this twice and she told me it was a go. I spoke to her again and she told me it was all booked and set to go.

They gave James a choice between a surgeon cap or a sticker at his appointment today. We took the surgeons hat. He doesn't really like to wear it, but will put it on for a few minutes if you ask him to see it. He'll smile brightly at you to say "see" and then take it off.

Thurs. Nov. 16 (3am) to Sat. Nov. 18

Another hospital stay. After two months of things going relatively well, we found ourselves back in hospital. James had a another cold which developed into high fevers, rapid and laboured breathing. I always hate taking him to Emerge because I know he’s going to be pricked and prodded and "tortured", but in the end I decided I better take him in.

Upon arrival at the hospital I debated turning around and going home because my "oh-so-sick" little boy was bright and chipper and didn’t look "oh-so-sick", but they were waiting for us so I carried on. (We are on the hospitals chronic care list - yes, privileged people we are - and before I go to Emerge I call ahead and speak to the Pediatrician on Call.) Well James’ good spurt didn’t last that long and they got a chance to see why I had called in. We ended up staying in Emerg for 14 hours while they pricked, prodded and "tortured" the poor guy. For the first bit they were unsure whether to keep him or not, but then he spiked a bad fever and his breathing got worse so they decided they needed to keep him in. They tested for all kinds of viruses again, as well as a bladder infection, did a swab of his G-tube site to see if it was infected and attempted to scrape the wax off her eardrum so they could tell whether or not his ears were infected. They tried to cover all areas but in the end he just ended up on a broad-spectrum antibiotic again. This is another reason I hate taking him in - they always put him on antibiotics, causing more yeast infections. Because he did have a cold a few days before coming in they did a swab for RSV and then he was put into an isolation room. It was worth the wait in Emerge: we got the best room on the Ward ... our own private room WITH an attached bathroom (yes that’s right, the other private/isolation rooms do not have their own bathroom - does that make any sense?). Technically parents are not suppose to use the bathroom, but when it’s my own private one and there’s no one else using it ... only makes sense I do!! :) This makes it so much easier as he’s at an age where it’s so hard to get away from him and I have such a small bladder that I’m always in need of a bathroom.

The next morning he woke up more like himself and I thought we would go home, but they wanted to keep him until he had been 24 hours without a fever. He did have a couple lower fevers throughout the day, but the next day they still let him go ... good thing because it’s hard to keep a relatively healthy and active kid happy in a room when he’s hooked to tons of cords and monitors.

BUT, that’s not the end of the story ... before we were discharged the resident checked him over and thought she heard a heart murmur. She called in the senior resident who heard the same thing, they proceeded to call the Team Doctor. He too heard it and was quite confident that it was not just a silent murmur, but an Apical Muscular VSD (I was later told by my Ped that it was pretty guttsy of him to name it that as you cannot tell without tests what kind of murmur it is), which is a hole between the left and right chambers, allowing oxygen-rich blood to go back to the lungs. He felt an Echo (an ultrasound of the heart) should be done. When he found out that James was going to be sedated on November 29 for an Endoscopy he said they would coordinate it to all be done at the same time. After waiting several hours just to get our discharge papers we finally got home late afternoon.

Chubby James.

At one point they loaded him with IV fluids because they thought he was
dehydrated. They had tried to get urine via a cathera and absolutely nothing would come out, not even a drop. So they loaded him with IV and tried again ... and still they could not get a drop out. They were baffled as a cathera can only go one way on a boy ... but hey, this is James. Poor guy was sore after that and then when he had to pee he would wiggle and squirm and cry ... hint for mom to grap the urine bottle and catch what's coming .... and so we got a "clean" urine specimen.

Filling in the Blanks

Well, like so many other things around here, James' journal was not complete that day and I never did get around to completing the entry. From now on James' journal will be the blog, hopefully that way I can keep up and not be dublicating between e-mails and his journal. So this leaves me with the task to fill in all that has been going on up to today date and then hopefully I can carry on with more reasonable length entries.

Tuesday, September 19, 2006
James had a pediatrician visit. A couple of the issues we dealt with at this visit was James’ constant sweating and his feet.

Since birth James sweats easily and excessivley. I would always have a pile of sheets under his main crib sheet in order to absorb the sweat. This sweating was worse with warmer weather, but also noticeable when it wasn’t so warm. Recently we had noticed how it would also happen more frequently when he was traumatized. If he were to fall or trip he would break out in a sweat in seconds and have beads of it on his almost bald head. We began to wonder if there is more too this. It was decided to do blood work regarding his thyroid. Although it’s not common in young children, it is possible to have thyroid problems at this age. Our Pediatrician also suggested getting an Echo done. I did not really ask much about this, or why this test because at the time I didn’t really realize what it was.

Another thing we noticed now that James was walking on his own was that his feet point outwards, especially his right foot, which at times makes him favour his left leg. We had seen it before when he was walking behind a walker and had hoped it would correct itself once the walker was no longer in the way of his feet., but as we look at his foot it seems to be in the actual bone structure. The doctor said that it is still possible to correct on it’s own, but she would like to have him checked out just in case.

Also this visit, we received results from some stool tests that were done to check the PH level in James’ bowel movements, to see if they were high and whether this was causing the sore bum. The one test came back in the normal range, the other specimen they were unable to use.

Tuesday, October 31, 2006
This day was a Genetic visit. Since our Pediatrician oversees most things and contacts Genetics if there is any major concern there was not a lot to be said or done at this meeting.

James had been doing well, he was growing and looked healthy. At this time he is not meeting his full volume requirements for his formula feeds each day. He is suppose to get 1300ml per day in order to get the correct amount of nutrition and protein each day. (Keep in mind that he also can not have too little protein as then his body would start breaking down his muscles in order to get what it needs to function). At the time of the appointment James was getting 1085ml per day. They felt that this was fine because he has been doing so well. He is growing, a little faster would be nice but not necessary. If we can slowly increase what he gets that would be okay, but there is no point in doing that if it’s just going to set him back. They said they would contact me if his blood work showed that something needs to be adjusted but I haven’t heard from them, so he seems function okay on what he’s getting. Since that appointment we have managed to bump him up to 1110ml per day. At least that’s what the pump is set for. We always measure the same amount each feed, but do not consistently have the same volume left over. A friend of ours (who works in a NICU) told us that this was because with every feed, the line (part of bag, but what wraps around the pump) stretches out a little more, making each cycle of the pump smaller. Initially, our coverage only allowed one bag per 5 days. (So that’s 25 feeds per bag.). Since our friend kindly informed us of this stretching, we use a bag for 2 days (10 feeds), and have noticed that the excess after the feed is more consistent. We now have coverage for 2 bags per week, but after seeing this result, we’ll stick with using more, even if we have to pay for the bags ourselves!.

None of the DNA tests have not come back yet. In September they got hung up at the border because of issue with James’ OHIP card, so almost 4 months later we’re still waiting for the final confirmation. This test will only deal with the specific gene that they feel is the problem, it will not look at his entire DNA map.

James had a bone density test in July which we never heard results on. This is because there is not really anything they can base the test on since there are so few children that have this test done. This test will serve as a guideline for the future and he will continue to be monitored to catch any problems that may arise due to osteoporosis .


Tuesday, November 7, 2006
Another Pediatrician visit.

We reviewed what to do with James when he gets a cold. The end verdict was to go by our gut instinct. High fevers and rapid breathing are what we watch for. We should watch if his breathing goes over 60 breath per minute (bpm) or becomes laborious. She also prescribed puffers/inhalers for when he had a cough. It is best to start him on them as soon as he has a cough to try and prevent problems (although we have never seen that they actually help him). We can also alternate Tylenol and Ibuprophen (every 2-3 hours) to maximize the fever relief and try to keep it in check, although they really won’t do to much to bring down the fever when it gets as high as his do.

In the past couple months James has been relatively stable (in comparison to the summer) and we also seen the sweating go away. We felt that since the excessive protein was likely the cause for his instability, an Echo would no longer be necessary now that he was stable. Our doctor agreed and we will not proceed with it at this time.

It was also agreed that we no longer have to consider James milk intolerant, but just protein intolerant. Taking him off milk helped because milk is high in protein but there is no indication that he is actually allergic to milk. This doesn’t actually change his diet because due to his colitis, he cannot have lactose.


Friday, November 10, 2006
This time it was a visit to the Endocrinologist. This visit was set up already in the summer when James was in the hospital. Back then, his growth hormone levels were low and some patients with LPI require hormone therapy to help them along.

The Endo Doc did not seem too concerned about James at this time. He said that sometimes the hormone levels go low when a person is ill. James is low on the charts, but he continues to go upwards at his own pace. He will need to be kept an eye on, so in six months he needs to go back to see where he’s at. We still did some blood work to see where he’s at so that we have a baseline for later. That was an easy appointment. :)

The months of September and October were not too overly busy, we had 1-2 days with appointments a week but after spending 5 weeks of the summer in the hospital it was great to be home and able to establish a routine again. With Marietta starting Grade 1 and going to school everyday we had no choice but to develop a routine. Thankfully James quickly adapted. After James’ last stay in the hospital we did struggle with him for several weeks to teach him how to go to sleep on his own. He had spent so much time in the hospital where we would always lay down beside him to get him to go to sleep that he thought we needed to do this at home too. So for a few weeks we found ourselves laying on the floor beside James’ bed to get him to go to sleep. We slowly weaned him off of this process once his tummy/g-tube was feeling better and we knew he could handle a bit more crying (stomach muscle action)

Maybe September and October were just the calm before the storm. I will admit that we began to relax a bit and felt more confident that James’ health was finally becoming stable. November started with a bang and hasn’t slowed down since. We’ve had appointments 3 days almost every week (the one week that we didn’t we ended up in hospital for 3 days), sometimes more then one per day [I must clarify - they have not all been for James...I have my own list :( ]. James did make it through his first cold without too much trouble, making us even more confident. He did have one night where he had fevers and his breathing picked up, but that was the peak and the next morning he was back to himself. Doctors had warned us about the winter months but this gave us some more confidence that his health was picking up. It was a short lived confidence.

James' Journal

Well it seems that August 18 was the last update e-mail I sent out. This leaves over 3 months of activity to catch up on. I have tried to keep a journal for James but have fallen behind on this as well. I will continue here by taking pieces from James's journal. Since this journal is written from James' perspective, the "I" would be James.

Tuesday, November 7, 2006
On Wednesday, August 30, 2006 I made yet another visit to the hospital. This time it was actually a scheduled visit. The ugly NG-tube finally came out of my nose and a new G-tube was put in my tummy. This was done by surgery and I had to be put "out" for the surgery. I sure woke up screaming and crying for quite a while. Eventually I settled down and slept and slept. I stayed in the hospital until Saturday. In the hospital I spent most of the time in bed or going for stroller rides. I had lots of morphine, so I slept lots. The last day I was getting up and around a bit more like myself. I would automatically pull up my knees to protect my belly if someone picked me up. In the hospital they slowly worked up my feeds and then let me go home.

I arrived home to vomit at suppertime, a couple days later I vomitted again and my belly was very distended. I became irritable and was sweating lots. Mommy and Daddy decided to slow down my feeds even more. After that I seemed to be better. Because my feeds were slowed down it took about an hour and a quarter to do my large feeds. This left little time for snack feeds. Mommy decided not to give me snack anymore but to see how I did on just my "meal" feeds. . My bowel movements became more normal, more paste like and no more mucas. I did not seem as cranky anymore either. I also slowly began to show a bit more interested in food, picking at things here and there. Overall I was doing pretty good.

My G-tube site took a bit of time to heal. For the first two weeks I was in a lot of pain. About a week after the surgery I developed an infection around the site. The site became red, swollen and there was discharge from it. Mommy called the Surgeon and was told to put polysporin around the site. This seemed to take some of the redness out of it, but I was still not very comfortable. I walked cautiously, I would not go up or down the stairs, and when I was picked up I tensed up and pulled my knees to my belly. Mommy and Daddy picked up like a little baby, always being held under the bum too, but I still was in a lot of pain. Two weeks after the surgery mommy had to take me to the GI doctor, at the same time she stopped in the Surgeons office and was able to see the nurse. The crossbar on my tube was way to tight, she loosened it up a bit and showed mommy how to loosen it if it needed to be done again. She also said to stop using the Polysporin and instead to treat the site with salt water in order to dry out the granulate skin that was trying to grow around the hole. The next day mommy loosened the crossbar a bit more and in a couple days mommy could tell the difference. I was walking better and not so tense when being picked up. Before long I was doing stairs again, sleeping on my tummy, rolling, playing as if nothing was there. There continued to be redness, discharge and bleeding around the site. At the beginning of October it started getting worse and I was becoming more tense when being picked up again, lifting my legs to my belly again. On October 10 mommy seen the Surgeon and he treated the skin around the site with Silvernitrate (burns the skin) and then prescribed an antibiotic to get rid of the infection. that stuff sure works, because when I snuck my hand under my shirt, a bit of skin burned on my finger tips. In a couple days it was looking really nice, no more discharge or bleeding. Mommy also requested to have a Mickey tube put in. Right now I have a 10 inches of tube hanging from my belly. Mommy tapes it to my tummy so that it doesn’t hang out of my shirt and get caught, and to keep it more stable and not swinging around all the time. My tummy of course gets red and irritated from always having tape on it. On November 29 they hope to put in a Mickey (which is a flat cap).

My G-tube looked wonderful while I was on antibiotics, no more discharge, no more bleeding or granulation skin, no more redness. A few days after the antibiotics were done the discharge came back. The last few weeks it’s been getting worse. My tummy gets red all around the site, more discharge, little bit of bleeding and there seems to be some granulation skin coming again. On Tuesday I went to see the Genetic Doctor and mommy had a chance to talk to the Surgeons nurse again. On that day my site was looking really good and she said it was fine, that it’s just a foreign object my body is fighting. Since then it’s been getting worse and I’ve started to pull my knees up when picked up as well I itch at it because it’s bothering me. Next week I see my Pediatrician, hopefully she can decide if it needs more treatment.

Since I’ve been out of the hospital I’ve had several doctors appointments to keep an eye on me. I’ve also seen GI again on September 15. My GI Doctor said that the biopsy they did during the scope had been sent away and at this point they believe that the colitis is LPI related, likely from overexposure to protein. He would like to do an endoscopy, which is a scope of the esophagus, stomach and larger intestines, from this scope they hope to get a clearer indication of the extent imflammation that I am dealing with and then decide how is best to treat the situation. It was also discussed whether there is a problem with my system absorbing sugar. At this time they do not think this is the case so they are just going to do the scope. The doctor also prescribed some more Canesteen for my yeast infection/rashes on my bum. Yeast infections are common with someone who has colitis and whose system is not functioning properly, it also comes when a person is on antibiotics, since antibiotics can kill the bacteria that fights yeast. I have been on antibiotics often in the last months. At this time they will only treat the symptoms on my bum and are not going to treat it orally, hoping that once my body stabilizes this will settle down. The GI Doctor also prescribe a medication that will help to hold my bile together and reduce the amount of phlegm/mucas in my diapers. Mommy took this prescription to give a try if the mucas gets quite bad again. Mommy has not tried the medication yet as she does not like how it just covers up the symptoms and doesn't treat them. By covering the symptoms mommy says she would not be able to tell how well or not-well I’m doing.

I had been doing well on the slower feeds since I came out of the hospital in September and slowly mommy and daddy started to feed a bit more and speed it up a bit. I was being fed at 200ml/hr and they got to up to 210ml/hr and started to see more mucas, at 215ml/hr it got worse. Instead of giving the medication that the GI Doctor gave me, my mommy decided to first see what would happen if she dropped the speed down to 175ml/hr. Since then my stools have been more paste-like and much less mucas. Although the stools are looking better and there hasn’t been too much mucas (and no blood) my bum still continues to get very red and sore. This past week mommy started using spring water (bottled) to make my formula, instead of the chlorinated ditch water that the city delivers to our tap. She did not see any immediate difference from doing this, but thinks that regardless it would be better not to have so much chlorine water in my system.

Right now everyone is waiting for the endoscopy to be done before any further decisions will be made. I continue to have the dietician come every other week to discuss how I’m doing and help if necessary. The Occupation Therapist only comes once a month right now since I’m mostly on tube feeds and do not eat very much. Every now and then I’ll start picking at food again and then I’ll stop and don’t want anything. Lately I’ve been pretty consistent on not eating much at all. If I do eat something it’s usually nazzi (spiced rice) of which I like to eat the rice one "kernel" at a time. Sometimes I will eat pureed strawberries or I might take a bite of my porridge. I also like to lick salad dressing or ketchup. Recently I’ve decided I like to eat my "cheese" slices and will eat 1/4 to ½ a slice at lunch time. I have no interest in popsicles, "ice cream" (technically frozen nutriwhip), jello or things like that. Mommy gives me three things to choose from at lunch and supper but I seldom touch it, except to play with it. Mommy also bought all kinds of veggie chips, rice crackers/chips/crisps from the health store, but I don’t really like them either. I used to lick the flavouring off them, but now I don’t even do that. I just like to pick them out of the bag and then leave them on my tray or give them to someone else to eat. Mommy tried to do baking for me but I have absolutely no interest in sweet things or any sort of baking, I prefer things with spice, like nazzi and bahmi and bbq flavoured rice crackers.

Friday, August 19, 2006 - Hospital AGAIN

It seems I'm always writing when James is not doing well, so last week I thought I best send a letter off telling how good he was doing at home. How he was gaining weight, looking good, even looking older ... less baby, more little guy. He loves being home, is energetic and plays so well. I held off when things started looking less good on the weekend ... and well now ... he's been back in the hospital since Tuesday.

We're seeing much of the same problems as last time. Over the weekened we began to realize something wasn't right when his stomach becames very distended and he began to have pretty consistent blood in stools. Monday I tried getting appointments, but no luck until Tuesday afternoon, which was pretty much too late. Tuesday morning he suddenly spiked a fever and had trouble breathing. I packed the bags and went to the pediatrician appointment, figuring I had the appointment anyways and she could speed up the hospital admission process. Which she did do, but James helped speed it up too as he went into seizure/convulsion when I arrived at the hospital. Talk about a quick way to get a bed at Emerg. Within a minute he had a bed, his blood had been taken and an IV started.

Thankfully this time around James stabalized much quicker and his breathing did not get so out of control. By the next day he was LOOKING much better. His breathing was mostly good, to look at him he seemed well, but he continues to spike fever and has occasional boughts of irritability. He isn't allowed home until he is without fever for 24 hours. As much as we'd like to just wisk him home we want to stay so they can get closer to the bottom of the problem. Each time they try to tell us that a virus or something else has set off his LPI and he can't handle it. This is all fine and we know that this will occur often, but they've at this time never been able to prove he has a virus and this time when he came in he was healthy before hand ... the signs of trouble had been his tummy and the blood .... which seem to occur each time we came in. We're thankful that it is our own peditrician on call right now and she is in agreement with us that there seems to be something else going on in his body that keeps doing this, especially considering the fact that it's summer and not virus time.

He had a scope done of his inside bowel area as well as a biopsy of the tissues in this area. They were unable to do a full scope since it was done quickly and he wasn't completely "cleaned out". We are waiting for the results. I did overhear the doctors talking and it seems they may have found something as their was some coilitis (imflammation of the bowels) in this area. My pediatrician did not have the full information when I spoke to her next, except to give me a big name and said at that point she didn't really know what it was, how serious, how it was related, if it was related to the LPI or that the poor guy has two things going on. So we're waiting for further information on that and hope that this can help us figure out why he remains so unstable.

But on a good note, he did not lose weight again and is over 10kg (22lbs) now. The biggest he's ever been. All the doctors and nurses first commented on how he's put on weight and looks good, and how he seems to have grown up in the last couple weeks. He's also finally learning to walk, he'll need lots of practice yet as he's slow and wobbly ... but he's walking!!

I must get going, I actually desert my little guy and left him all by himself for the first time last night when I became sick. It's been years since I've had a bad fever, guess I needed one to be remind of how awful they are and what little James is going thru. So I've frozen and sweated last night and hopefully I'm thru that and can do my duties again today. I'll just have to take lots of Halls for my sore throat ... of the 5 admissions James has had, 3 I've picked up a cold (this being the worst) ... the joys of hanging out with the sick people.
Thank you for your continued prayers and support.

Friday, July 21, 2006 - Home Sweet Home

Our little guy is home again. He has been coming and going the past week, sleeping at home, "playing" at the hospital. This was a nice break for him and a good training process for us.

Lots has been going on in the past week, although none of it has explained what started this whole episode. Lots of things have also hindered doctors plans/trials and we often had to revamp our plan of action. This started last week Thursday when his IV came out yet again (3rd time). The poor guy didn't have any veins left after being pricked so many times that the IV nurse gave up and said they would have to come up with a different plan. That plan involved a feeding tube. They put the tube in that day and we began to slowly give him his formula through the tube. This did not sit well with James, he would cry and moan with feeds, he had vomitting episodes, he hated it whenever we came near the tube and he just was not happy. On Monday they did a chest x-ray and at the same time the x-ray showed that his tube was too far in and was sitting in his bowels. They had to pull it back 11.5cm ... no wonder the poor guy was so unhappy. So with the tube happily relocated we could see a difference in his feedings pretty much right away and with some changes made to the "plan of action" we carried on. He still didn't like us coming near him b/c he associated it with pain, but not so much moaning and groaning anymore.

Unfortunately this correctly positioned tube only lasted one night and then came out. It seems it was not taped down good enough, or he sweats so much that it loosens the grip of the tape, whatever the case it came out and we had to go through the whole process again on Tuesday. This time they were wise enough to do an x-ray right away, which showed that is wasn't in far enough, so they had to reposition and re-x-ray. That tube didn't last long either and on Thursday we had to go through the process again. This is our last try on this type of tube: if this one only lasts a couple days then we will put our foot down and require them to put a G-tube in. This tube is put directly into the stomach and can last a lifetime ... not the tube itself but the spot where the tube goes in. Sounds awful but it is actually common, especially for people like James who are required to take (very yukky) medication many times a day (before each feed in James' case). It's a bit more invasive to put in, but it's long-term and putting a "fresh" tube in is something I can do ... instead of wasting a day in Emerg getting a new one put in like I will have to do now. Not to point out it would save James from having to undergo so many x-rays everytime the tube is put in ... but all in all ... we hope the next time the tube comes out we won't need to put it back in .. at least not for feedings. The doctors have suggested a G-tube for medication and I'm afraid we'll need it as I already have enough trouble getting tylenol into this kid, let alone disgusting medicine.

James slowly began to stabalize this past week, and by Tuesday his breathing was pretty much back to normal and finally no more fevers. We never were able to figure out what caused the fevers and sent his body/breathing to working overtime. It is believed he simply picked up a virus/cold or something of that assort. Not very comforting when you think of how easy it is to pick up these. What turned him off his bottles/formula?? This is even more difficult. We had just started introducing a new formula, but James has always taken change quite well, so this hardly makes sense. We had also started adding medication to his formula ... yukky tasting medicine ... he took it at first, but maybe eventually he thought enough is enough. Or was his stomach just so upset/irritated that he associated it with his bottle?? Doesn't make sense since he's gone through other sicknesses and always found the bottle to be a comfort. Or maybe, just a combination of all of the above. Whatever the case ... he's a true dutchman ... stubborn as anything.

We tried many different ways to get him to drink, whether by cup or bottle ... but nothing worked. Putting formula in his cup turned him off of using any of his sippy cups, no matter how hard you work to show him that it's juice in the cup and not formula ... he will not touch sippy cups anymore!!! We bought a new Nubby cup, one try of that and it went flying. He sees the bottle and is shaking his head and putting his hands out to stop it from getting near him. He seems to have a mental block and we have to figure out how to get past it. In the meantime we figure it's just best to pack away anything that sets him off and try other measures until he relaxes a bit more.

We were excited yesterday and today when we finally made slight progress in the feeding area. On Wednesday night we tried something new ... no nighttime feeds. I did his last feed a 10:30 and then didn't get up during the night to feed him. He pretty much slept through the night, cept having to rock him back to sleep at one point. Thursday morning his tube came out at the beginning of his feed. The stomach has to rest before they can put a new one in, and we decided to give it extra rest and see if he would drink. 17 hours later we had managed to get all of 4 ounces in him via a cup and straw. Not much, but a big move forward. The trick? ... flavour the formula, put it in something different/new and call it juice. So he didn't guzzle it down, but at least he drank some. Today he drank 8 ounces. It's not likely we'll be able to get enough in him via cup since he really drinks best with a bottle, but right now we're happy to see some progress and hope it continues in this way, and at least 8 ounces means one less feeding. Doctors, dietician and therapist all believe it will probably take about a month to get him back to drinking everything orally.

Other then the feeding issue we did seem to be visiting lots of doctors, etc between play time. We were happy to see how they really tried to cover everything. The respirologist confirmed what the other doctors said. James does seem to have some mild lung disease, basically his lungs are "cloudy". At this point we are going to do nothing more then monitor him. If it gets worse or if we continue to find him in Emerg with respiratory distress then they will have to do further investigations. These investigations can be quite invasive and so they rather not do them unless necessary. His bone density test was done, but we haven't heard results on that yet. His stools tests continue to show evidence of blood, so on Wednesday they switched his formula yet again. They felt that his old formula may have been the cause to his hemoglobin levels dropping (a sign of bleeding). These levels were low already when he was first admitted. He could have had blood in his stools for some time even though it was not noticeable blood. They felt this could be from the formula he was on and decided to switch to a new formula. His old formula had broken up the protein molecule, but his body still had to break it down into amino acid. His new formula does not have protein at all, but straight amino acids so that his body can absorb it directly. We'll see how this change goes; so far he is tolerating it and we'll wait and see if his stools clear up.
We were also advised that his growth hormone levels are low. We did not manage to get in to the specialist for this before we were discharge. There is not any extreme urgency, but something they want to further investigate. Even though James will grow at a slower rate, his growth hormones should still stay in the normal area. There have been a couple cases where the levels were low and they had to do hormone therapy to help with growth. We will be looking in to whether this will be necessary.

So now we're home. I'm glad that we can hold off a bit on the night time feeds, as this can mean getting some rest. It takes an hour to pump an 8 ounce bottle. This means getting up and prepping his formula & medicine, etc. get him going, hop back in bed, alarm goes off after an hour ... unhook and flush his lines, clean up the feeding bag, back into bed until two hours later alarm goes off and start procedure over. After a couple nights of that I was beginning to think I was better off staying in the hospital, at least the nurse does it all there; all I had to do was comfort James so he would go back to sleep. We have tried to do his feeds faster, but this did not sit well and he vomitted. Once we know he's stable on this new formula we may try speed them up again. Speaking of feeds, it's almost 11pm and I have to go get his last feed for tonight going. Tomorrow, if all goes well and no reactions to his formula,we are finally allowed to start him back on solids. He shows much interest in this and if we're not fast enough he tries to swipe our food, so mostly we try not to eat in his sight.

But all in all ... James is James again, each day he got a little perkier, brighter and faster ... today he was really back to his old busy self ... so nice to see!!! We have been forwarned that we will likely see ourselves in the hospital more often in the future ... unfortunately we can't reserve a room!!! :) Suddenly I am thankful for living in the city (but yes, still a country-girl at heart)!!!
We continue to thank everyone for their support and prayers. We pray that we will not need to write again soon!!!

Wednesday, July 12, 2006 - Stable But Not

I see that Rob took the honours of writing a quick note. Sometimes I feel I'm always behind here and so I just didn't bother writing right away as I hoped it would all clear up quickly and easily. I suppose eventually we'll just have to stop writing every time James ends up in the hospital as this will likely be a familiar part of our lives for the next couple years. It certainly has been an up and down time the past couple months ... and here we were so excited last week when we finally got a diagnosis. How quickly things turned around again ... but regardless we're glad we have the diagnosis ...so that it can make things less complicated, altho in truth, it doesn't really seem like that's the case.

In doctors terms James is considered stable. To look at him you would not think so, even the nurses get quite concerned at times. James continues to struggle to breath, sometimes worse then others, sometimes by labourious breathing, other times by short quick breathing. Most would consider this respiratory distress, today we were told that they believe this is actually a good thing. The consensus now is that this is related to his LPI, this part anyways, but not necessarily everything that is going on. It seems that something ... here is the key questions .... what? ... but, something is ailing James. James is fighting it and this is difficult for people with metabolic disorders. You and I have enough fat, protein, nutrients, etc stored to fight such things, but James is living on the bare minimum and so it is difficult for him to fight. His breathing is believe to be because he is trying to hold his blood gas levels stable ... and he is doing a good job as they continue to be stable. I believe I'm going to have to take a biology course as I'm somewhat lost at times, indeed, how amazing our bodies are.

So this is where they say his is stable. His body is doing what it needs to carry him through. But the question remains what is he fighting?? This is more complicated. They put him on TPN (food by intervenous) on Monday night so that his gut could have a rest and he would get his nutrition again. He wasn't drinking anyways, but this meant he wasn't allowed even if he wanted. An ultrasound was done but nothing obvious came through, the only thing they seen is that there was some fluid in his abdomen which had likely leaked for his bladder b/c he hasn't been functioning properly. So, it could all be a virus that he just couldn't handle. We are also looking at the possibility it is the new formula we put him on as this all happened after we switched him.
Today they gave the go-ahead to start feeds again. We've mixed up his formula again and are trying to introduce this and this alone so we can gauge how his body tolerates it. Once we can get him to take this ...key word, ONCE .... then we monitor what his body does. This in itself is a several day process, but right now the bigger hurdle is to get him to actually drink some. Rob was there most of today so I don't know if they made any progress, but last he said was that he wouldn't take it. Even before he was on IV he refused to touch the bottle, this is why we became concerned as anyone who knows James knows how much he loves his bottle. Is he trying to tell us something?

Does it all add up?? If the formula was the issue wouldn't his system be better by now?? Would it cause such high fevers? Why is he not improving?? Should we be reintroducing it? So, if the formula is not the issue ... WHAT is?? It could be a virus, but no blood work has shown anything yet. Are we going to go through this every virus he picks up?? Lots of questions, we're all very perplexed ... doctors included!!!

The only good thing is that his fevers are no longer as high as at first (103-104.5), they come and go but usually stay below 101. Hopefully this is a sign that he is slowly winning the battle.

Several e-mails have come back asking about our holidays. What started as a 3 week holiday, was shortened to a 2 weeks holiday when we became uncertain of James' stability. Then after his investigation hospitalization the doctor questioned the wisdom of driving and so we again shortened our trip, this time to a 8 day holiday, flying both ways. Well West-Jet Fight #221 left without our family. Our dear girls were very disappointed, as were their parents, but they are doing their best to understand that their little brother is very sick and can't go anywhere for a while. They had so much been looking forward to going on a plane .. that's what comes of talking about something for months .... now I know why we usually keep our mouths shut and don't tell them until a few days beforehand. This one was a bit hard to keep quiet tho. It was even harder when we had to tell Marietta, who's birthday is on Friday, that we shipped all her presents off to BC when Grandpa and Grandma's trailer left. She's an understanding child tho and after her initial disappointment realized that she would still get them, she would just have to a wait a bit longer. We had hoped James would be home by her birthday, but today we had to diappoint her again and tell her that he would not, we gave her a few options and she decided she'll come for a visit on her birthday and then once James is home she'll pick a new day to have her birthday.

Our tired, pale little guy

Well, I am home tonight to get some sleep ... so that is where I'm heading now. Thank you all for your letters, calls and most of all your prayers, I hope my next e-mail will bring a truly stable message/answer!! :)


Whatever it takes to get him to sleep

Monday, July 10, 2006 - Deja Vu

It may seem like deja vu, but James is back in the hospital. Steph took him into emerge in the middle of Friday night because he had been quite feverish for 36 hours, and started having convulsions. He came home the next afternoon because he was somewhat stable, only to go late that night again because his breathing was very laborious. The key question is "is this related to LPI, or something altogether different?" There did not seem to be a consensus on which direction to go from here until his specialist came by late this afternoon, who was not afraid to stand at the helm. Tonight James is receiving a blood transfusion because his haemoglobin was down. This stands to reason since his blood was taken many times the last few days while his only source of nutrition has been sugar water through his I.V.

It is good that God's mercy is new every morning, because working with James is a day by day excursion

James' Symptoms

Before I carry on with my history of e-mails, I thought I'd write a little about James' first year and why I say that the description of LPI really suits him.

At four months of age James stopped sleeping though the night. I decided to try starting him on solids to see if this would help, but he absolutely refused to take them. Off and on the battle went. I would stop trying for a few weeks, try again, but we made no progress; if anything we were stepping backwards. As he got older he got smarter. Instead of spitting his food back out he would clench his jaw tight so hard that there was no way I could force a spoon into his mouth. At nine months of age we began to notice that he would eat things like ice cream, jello, pudding and all those type of yummy sweet things, so we spruced up his meals with lots of sugar and started force feeding him. This was not a nice task but I was at my wits end. I did this for a month thinking that eventually he would give up, but he didn't; his jaw remained firmly closed, and so I gave up again. Throughout these months of battles we would see short spurts where he would eat small amounts. We discovered his favourite solid food was Baby Mum-Mum's, and so they became a staple in our house. Unfortunately one day I decided to try a different variety (original instead of vegetable), he didn't like this and was completely turned off of the Mum-Mum's all together for some time. Eventually he did start to eat them again and this was always the most liked food for him; other foods he would enjoy in short spurts. We tried many different tricks and kept telling ourselves that evenutally he would eat, it was just the stubborn maternal Dutch blood in him.

The eating battle was the most obvious concern with James, one that we tried to ignore when we shouldn't have. Hindsight!! This battle is described as spontaneous protein aversion. How smart a child can be that at 4 months already he would reject pablum because it had too much protein in it. He was trying to tell us something all this time and we weren't listen to him ... altho he should have been more consistent in his message because ice cream and cream cheese cake are high in protein :)

The symptoms also mentions how children do well while they are breastfed. When looking at James' growth chart we can see how true this is. Shortly after he was weaned his weight dropped out of the 10th precentile to the 5th, and continued to go down from there until at 13 and 14 months he had fallen well below the 5th precentile. We can question if some of James irritability while nursing was due to this condition, but it is hard to say. I never described James as colicky (maybe because I was comparing him to Rebecca who as an all-time colic extreme). I usually would say he was a fussy baby or discontent. He was not always the happiest, he would nurse frequently (ever 1 1/2 to 2 hours - why did I put up with that??) and was often irritable, fussy and crying in the evenings (especially the first 4 months of his life) until 10-11pm. He kept me busy!!

I weaned James at seven months. It was a hard transition for him to go the the bottle and he did not like the formula, but eventually learned to drink it. Once formula fed, James had some vomitting episodes, as well as having bad gas and being discontent after a feed. At the time we thought this was due to the bottle nipples flowing too fast for him and so after trying several different kinds of nipples we found a good slow flow for him. Eventually the vomitting, gases and discontent settled down. Looking back we figure much of this was his body trying to adjust to the sudden increase in protein and it's surprising that he did so well and did settle down after a bit. Eventually formula became James' only staple.

Diarrhea is also a symptom that describes James well. James always had very loose infant-like stools. They were usually a yellowish colour and he would have 4-6 bowel movements a day. Even during the periods where he would eat some solids for 3-4 days in a row we still did not see any change in his stools. If he did eat solids we would sometimes see what he ate come back out a couple hours later, still whole. As well as having diarrhea he would also had a continous diaper rash. From one diaper to the next we would see a big difference. He could wake up with a relatively decent looking bum and after one dirty diaper he would have open, bleeding sores. It was a constant battle.

The symptoms also lists convulsions. This seems to explain what we thought were night terrors and recently more obvious seizures. These would happen when his body could not longer handle the levels of ammonia. It's scary to realize what these really were and how dangerous they could be.

As already mentioned, James has a large liver and spleen, which is also mentioned in the symptoms. We do not really know when exactly his belly began to extend. I do remember that when he was six months old we would have people comment that even though he wasn't eating solids he sure was a little porker...again, HINDSIGHT!
It is interesting to note that the doctors showed us what James lysine levels were. Please don't quote me on this as my memory is not that good, but regardless of how accurate my numbers are you will be able to see why they came to the conclusion this is what he has. A normal person's lysine count is between 89-400 (remember don't quote me). James' lysine count was 46,000. Wow!! How amazing our Creator is that he made our bodies in such a way that James could continue to function, grow, etc when something was so out of wack.

LPI Explained by Wikipedia

Who knows, maybe I'll be faithful enough to this blog for the next years that my link below will become outdated. By that time when you click on the below link 5-10 years from now I have a feeling they'll know a bit more about LPI and have a different description (or hey, the link might not even exist anymore). So I figured I'd post what is currently written about LPI on the online Wikipedia dictictionary as I found this website did the best job description the disorder in "plain-man's" terms.


Lysinuric protein intolerance (LPI), also named hyperdibasic aminoaciduria type 2 or familial protein intolerance, is an autosomal recessive disorder of diamino acid transport. About 100 patients have been reported, almost half of them of Finnish origin.

In LPI urinary excretion of cationic amino acids (ornithine, arginine and lysine is increased and these amino acids are poorly absorbed from the intestine. Therefore, their plasma concentrations are low and their body pools become depleted. Deficiency of arginine and ornithine restricts the function of the urea cycle and leads to hyperammonemia after protein-rich meals. Deficiency of lysine may play a major role in the sketal and immunological abnormalities observed in LPI patients

The diagnosis is based on the biochemical findings (increased concentrations of lysine, arginine and ornithine in urine and low concentrations of these amino acids in plasma, elevation of urinary orotic acid excretion after protein-rich meals, and inappropriately high concentrations of serum ferritin and lactate dehydrogenase isoenzymes and the screening of known mutation of the causative gene from a DNA sample.

Infants with LPI are usually syptom-free when breastfed because of the low protein concentration in human milk, but develop vomiting and diarrhea after weaning. The patients show failure to thrive, poor appetite, growth retardation, enlarged liver and spleen, prominent osteoporosis, delayed bone age and spontaneous protein aversion. Forced feeding of protein may lead to convulsions and coma. Mental development is normal if prolonged episode of hyperammonemia can be avoided. Some patients develop severe pulmonary and renal complications.

Treatment of LPI consists of protein-restricted diet and supplementationwith oral citrulline. Citrulline is a neutral amino acid that improves the function of the urea cycle and allows sufficient protein intake without hyperammonemia. Under proper dietary control and supplementation, the majority of the LPI patients are able to have a nearly normal life.

Lysinuric Protein Intolerance - Wed. July 5, 2006

I'm sure the above subject explains everything and I really do not need to say anymore!!! :)

Well, we are day one into a steep learning curve on how to live with a VERY rare genetic disorder. I know several people who have children with milk allergies and I always thought how I would never be able to handle such a restriction on my cooking skills - or lack thereof :). I love baking and cooking, trying new things and lots of variety!!! Today I'm thinking I would love to have a child with a simple milk allergy or even a egg or peanut allergy ... but not to worry ... eventually I'll get use to the changes in James diet ... it won't mean changes for the rest of the family, it will just mean extra baking and cooking.

So ... what is Lysinuric Protein Intolerance (LPI). I think the quickest and easiest way to explain this is to first send you to the following webpage: http://en.wikipedia.org/wiki/Lysinuric_protein_intolerance. I will expand from there.

For those who know James you will quickly see that the Symptoms describes James pretty much to a tee. At this point the doctors are 90% sure that this is the correct diagnosis. They have ordered DNA testing to be done on his skin biopsy in order to complete this confirmation. DNA testing can be done by blood, but since they did the skin biopsy they will be using that. It is interesting to point out how they came to this conclusion: ironically, the recent tests were somewhat useless. The answer came from a urine test that was done during his stay in the hospital. This urine test was ordered as an afterthought ... sort of a "just because". They had done urine tests before that, but you have to specifically request a special test in order to get the information they just got. The information the urine gave them, along with blood work, symptoms, etc, finally brought them to this answer.

As you can read, there are about 100 reported cases of this disease. This is indeed true, or close to true. It is also true that 50% of them are from Finland. There is another group in Japan as well as some in Italy. There is only 1 Dutch case reported. This is a genetic disorder. I'm sure there are others out there who are better at biology and can easier explain how this works. I'll try my best. In our gene pool some times we end up with defect genes. Often this is not a problem since it is recessive, and another dominant gene is able to compensate for it and do what the defect gene should do. So Rob and I have both the defect gene and also the compensating gene. Unfortunate for James, when he was conceived, he only got the recessive defective gene from both of us, and not the dominant compensating gene - this leaves him stuck with LPI. It is rare enough to have this gene as being defective ... and of course, even more rare to find a mate who has it too ... and then pass it on. The reason half the cases are Finnish is b/c Finalnd is a small area/population and it's sort of like intermarriage ... when people stick to their own country and there is such a condition it just gets spread more and more. The girls will also have to be tested to see if they have a mild form of LPI. It is possible to have it but not find out until later and then it can actually be worse as it has done more damage to your system without knowing it, especially your liver. It is not likely that the girls have anything of this sort as they have not shown even the remotest signs of it. We also have a 25% chance of passing this along to any future children. So ... I'm not good in biology ... I hope that sort of makes sense.

A few other factors of this disease that are not mentioned here. First off, let us remember this is information based on approximately 100 cases, so the knowledge here is limited. The following items they have not yet been able to determine the relationship to the protein issue. Common issues can be lung problems, osteoporosis, developmental delay, delayed growth, and liver damage. James will have his lungs monitored to make sure he is not developing any conditions. I'm not sure exactly what it is that he could develop, it was a big word, but it's different then asthma. He will also have his kidneys monitored to make sure they continue to function properly. Osteoporosis (weak bones) is common, they will continue to watch this as well as he may end up with fragile bones. This usually becomes more apparant after 5 years of age. There are cases of developmental delay, not so much retardation, just slowness. People with LPI also grow slower. So even after he is on proper treatment he will not keep up with his age level. Often those who have LPI do not grow as "completely", as I, they will be smaller.

And how do we treat this? A low-protein diet. What does this mean? James is on a caculation of 1.2 grams protein/per kg/per day. He is currently 9.6kgs, so this means he's allowed 11.5grams of protein a day. So I challenge all of you to take a look at your nutritional information for the next day or so and truly see what a challenge this would be. At this time he been getting about 25-30grams in his formula alone. He is actually able to tolerate this, altho it is not good on his system as this increases his amino acids (protein blocks) which his body does not know how to process. So we need to cut this back drastically. Thankfully there is help for this. We start by diluting his current formula with a protein free formula. We also have to add a powder to his bottles in order to help his body process the ammonia in his system. (That's the part in the description about using Citrulline to help the urea cycle). Our bodies process ammonia into urea and then process it out through our urine. His body is not doing this. Ammonia is toxic and can/will cause liver damage (this is why the girls could end up much worse off if they were to go undetected for a long period of time) with prolonged exposure.

Our first step is the transition of the formula. It is likely that he will start drinking even more formula ... altho they were pretty shocked that he drinks 40-50oz a day. Once this transition has gone through we need to work on the eating aspect. This may be challenging, it is hard to say. He has become dependent on drinking, now he has to learn that he can get what he needs out of food as well. It is possible that when he realizes that the food is not effecting him he may eat better, but it's also likely that his preference is going to be the bottle. So we'll have to decrease his bottles to make him hungry. What do we feed him?? Special low-protein foods that can be bought at a shop in Toronto, at SickKids, the same place that his formula comes from, we just have the pay the shipping. The majority of the foods are covered by the government, the most important ones anyways. And just for interest sake, you will not guess what a loaf of white bread costs ... so I'll just tell you ... $21.99 ... yes, that's one loaf!!! 500g of flour is $19.99, $19.99 for 375g of cheerio-like cereal. Oh and 199g pkg of Mac'n Cheese (KD box is 225g) is only a mere $15.99. I can get flours and baking mixes, imitation rice, pastas, even bread machine mix, egg replacer, and cheese - some of the basic essentials in order to cook/bake. It will be a big experiment cooking with this stuff, as I've been warned it's like starch, so it gets that lumpy, gooey texture ...as I already experienced when I made his formula tonight ... a blender will now be permanantly on our counter ... I think we'll have to invest in a seperate pantry just for James.

So ... I hope I've covered the most of it. There is lots of learning ahead, but we are thankful to come to a diagnosis. It all seems overwhelming right now, but eventually it will just become a way of life. Most of all we are thankful that there is treatment available. Although this is a rare disease it is treatable in the somewhat of the same manner as some other diseases that require low-protein (e.g. PKU). So this is new to us and our doctors as well, but it is something they can work with. Our doctor hopes to hook up with the Finnish at the upcoming International Conference he is attending to maybe get some further information. He also did tell me that this diagnosis is better then the storage diseases they originally thought he might have. Words of comfort I suppose.

Through all this, where would we be without God as our Anchor? We are indebted to you all for your prayers and words of encouragement. What a rich blessing to share in the many blessing Christ has bestowed upon his Church!

Wednesday, June 28, 2006 - Home Again

Well there's not much new to say at this point ... except that we're home. Now we must wait for some answers.

Yesterday James had his biopsy done. They decided on just the bone marrow. Our GI and Genetic doctors believe that James has a storage disease ... thinking along the lines of that his body is not processing the fat properly and possibly storing it in the wrong places, therefore causing swelling. There are many storage diseases and they hope to get the answer on what kind thru the bone marrow and the skin biopsy. It takes about a week for the results on the bone marrow, and 4 weeks on the skin ... altho this can be sped up somewhat. They will likely want to wait for all the results before making a final conclusion ... with this in mind the doctor said to go on our holidays, although he did question the driving aspect. I pray that they will have an answer, my biggest fear is that everything will come back okay and we have to start over. Our doctor is pretty confident this will give the answer, or at least the direction to the answer ... I wish I had as much confidence as he does. He did say that this will probably narrow down what we are looking at and then depending on the results there may be some further tests to get to the exact diagnosis.

James did well with the biopsy. He slept a good part of the day afterwards, but still went to bed at his usually (hospital) time of 10pm. When not sleeping he was up and at it as if nothing had happened. Thankfully they removed the IV pretty soon after so I didn't have to chase him with the pole for too long. Hopefully this past week pays off and we'll soon be able to move forward towards treatment. For the time being we were told to just continue to do what we can to maintain his weight. As long as he isn't going backwards we're doing okay, sometimes this is easier said then done, but right now he's holding pretty stable.

It will be 3-4 weeks before we have any further appointments so we'll try be patient and we'll let you know once we hear something. Thank you all for your continued support.

FoozeBall ... James way to pass the time

Saturday, June 24, 2006 - L.O.A.

For all of you who remember from my previous e-mail ... way back ... LOA means Leave of Absence (really ... does that make any sense?? but I didn't name it that). James is home for the weekend. Technically he has to return Sunday night, but we can call in and ask for it extended until Monday morning. You are only allowed to be gone 48 hours or you should be discharged. But there are ways around that ... so hopefully we get a few nights in our own bed ... well rested for next week.

I'll try not to get into great detail about all that is going on ... even I get confused and I'm right involved. Day 1 was spent doing pretty much doing nothing but running after James while he played, rode the cars, ran behind his walker ...taking him for wagon rides ... talk about a long day. On the doctors side, this day was spent admitting him and getting the ball rolling. The wanted all departments involved right away. The departments we are dealing with are GI (Gastrointestinal/Stomach), Hematology (Blood), and Metabolics (Genetics). Day 2 was slow also, but we did get a Hematology consultation in, which got the ball rolling for some further tests. After some discussion it was decided to go ahead with the bone marrow biopsy. At first they felt this was not necessary since it would not tell us anything more: it would rule out any cancers, and he is "too healthy" to have cancer. This got me a bit worked up since this past month we have been sitting at home waiting for this consultation which, we were told, would give us the answers. After consulting with the team the doctor came back to say she had changed her mind, due to a few factors they felt it would be best to go ahead and at least rule this out, as well there was one other non-cancerous disease that can be found thru this biopsy and he has the symptoms of this. So this biopsy is booked for Tuesday.

Today was a bit busier, which was a nice change ... at least the day went faster for me ... altho I'm not so sure James enjoyed this day as much. He was awakened by the Metabolics doctor to have a quick review before he was taken down for an ultrasound and x-rays. He did good through these, I'm so thankful for such an easy child in this respect. Metabolics is looking for genetic disases (not necessarily that Rob or I have it, but that our combined genes create it), or storage diseases - meaning his body is not processing his food properly one way or another. More blood work and as well as a skin biopsy. These are both very specific tests that take long to get results. He had the skin biopsy done this afternoon ... this was literally done by cutting a piece of skin out with a pair of scissors ... no freezing, just clean the spot, hold the arm down and snip. Poor guy ... but, put the bandage on, cuddle and a minute later all is forgotten ... such a little man. As well he visited the eye clinic today to confirm that his vision is fine. They had to put drops in to dilate his pupils and he did seem to be a bit bothered by this, but he still insisted on playing outside ... squinting and rubbing his eyes ... but outside none-the-less.

As for this coming week ... they are still getting together on this. Since Hematology does not feel that a bone marrow is going to give answers, I quickly pushed that I wanted all things done, now! and not to wait for those results in order to start all over again. Thankfully the doctors were in agreement with this and so we are still waiting to see what is decided. My GI doctor felt the bone marrow would be the answer and a liver biopsy was not necessary. But today I spoke with the doctor filling in and he felt that we should probably do a liver biopsy as well as possibily a muscle biopsy. This all needs to be figured out on Monday as all the biopsies are suppose to be done together on Tuesday. As much as it sounds awful to do all these, and I hate to put the poor guy through it all, I'd rather have it all done at once then to have to continously put him through this. We were told that the bone marrow can be painful ... they will be taking out of both hips ... but that children usually bounce back quickly and it's possible it may not even effect him. I have not discussed the other two biopsies and their effects yet as it has not yet been determined if they will be done ... altho it's sounding more and more likely.

We are thankful to see that things are finally moving forward. I don't even want to begin to imagine how long it would take as an outpatient when so many of these tests take so long to get results and each doctor keeps telling us what a puzzle he is. We have also been warned that we may not get an answer. This is not comforting. They try to tell us that at least each tests rules out things ... but I rather have a diagnosis then to be told that there just isn't an answer. We have struggled to just maintain his weight and he has shown in the past month that his body cannot keep going this way. We continue to pray the Lord will guide the minds and hands of the doctors and bless us with an answer. We also pray for patience and strength to accept all that comes before us. We know that our strength and comfort lies in Him, He will carry us through.

Here James is having his EEG done. They put the probes on his head and then wrapped it up so he wouldn't touch them. After that we gave him his bottle to try convince him to go to sleep as this is how they get the best reading. He did not sleep, although he did lay quiet for a while, eventually I ended up holding him while they finished up the test

Tuesday, June 20, 2006 - Readmitted for Investigation

This will be short and to the point. James has not been doing well the last couple days, we have been pushing to have him re-admitted to speed up the procedures. We received a call late today that a bed has opened for him. I must be there tonight or they will give it to the next person and put him back on the list.

Please pray that we may finally make progress and find an answer to what is ailing our little guy.

Thursday, June 1, 2006

The good news is ... things are finally going somewhere now. For all you who had this false impression that I'm such an organized person ... haha ... you should see what a mess I am now trying to keep up with everything ... I like my home ... I don't do well when I'm seldom to never home ... and that's what it's felt like lately.

I must say, most of the past month was mildly busy ... but not so much because of James, more because we finally felt he was ready to venture a little further out ... and this meant catching up on some missed things and getting back into the routine of other things. So I started visiting again, bi-weekly book club meetings, Early Years, the park ..etc. The girls were excited to be able to do some of these things again. James had his regular Dietician and OT appointments ... throw in a few ortho for me and Marietta, specialist for myself ... boy the calendar does fill up quickly.

So where to start ... the beginning is usually the best ... and for the most ... not much happened this month ... until the past week. We had been slowly ticking the time away, waiting for the next Pediatrician visit, which was scheduled for May 29. At this appointment we hoped to change James' formula again as well as push that he see a GI Specialist sooner.

Over the past month the Dietician and OT had been by almost weekly and I was charting most of James life to see what we could figure out. We played around with his formula. He took the transition to the new hypo-allergenic formula quite well and the diaper rash disappeared, but the stools did not thicken. So we tried adding rice pablum to his bottles to increase calories and maybe thicken the stools. We reached 2tbsp per bottle and that was fine ... once we went over that he became cranky and refused to take the bottle. We also considered that because this is not a high calorie formula he was drinking a more then before (usually 40-43 oz day), so it would be hard for the stools to thicken unless we changed formulas (again) to a powder form that we could concentrate to make it high calorie. The pediatrician has to change the formula, since it is a prescription, so we were waiting for the appt to do this.

We have not worked on getting him to eat solids. The Dietician and OT strongly felt their was something GI (Gastrointestinal) going on and until that was sort out they could not do anything in this area. Our main goal over the past month was to get him to gain weight. We did well for a period, but then he lost again and now he's holding around 20 1/2 lbs. As I mentioned before getting into GI would take 4-6 months. They felt that this should be sped up and hoped their report to the peditrician (which I take with when I go for the appt) would help to speed things up, their other option was to try hospitalize him, but at the time he was gaining weight and as long as he did that it would be hard to do.

With our upcoming holidays I was concerned about whether we should still be going. The dietician and OT assured me that it should be fine (and I have since got the same okay from the other doctors), we had a month yet to figure out what formula works for him and that's all we needed to do. Which brought me to the realization that he would be 19 months old and still only drinking and I became concerned that each month that ticked by would only make it harder to train him to eat. They did not feel this to be a problem. They have watched him attempt to eat and see that he has the skills to. He can feed himself, has the motor skills, knows what to do with the stuff, is able to chew and swallow. Once we can figure out what makes him refuse to eat he will probably go ahead just like that. They only want to see that he continues to use these skills or he could lose them. This means that we continue to go thru the routine of feeding him, this is not too hard in a family setting as ours as we all sit down together for meals anyways (guess that's not so coming in the "world"). He wants to join us at meal time anyways, and we've never excluded him. He has a short attention span though and cannot stay in his high chair long and he starts to fuss and annoy us all. He has to learn to stay in the chair for a reasonable amount of time (about 15 minute at his age) and then we let him out ... we have to be careful that he does not associate dislike with the feeding pattern/schedule. This is where it's handy to have the playpen in the dining room. He also knows that when he's done playing with his food he goes in the playpen while we finish, he hands me his bowl and points to the playpen. When I get up to clear off the table at supper time he knows dessert comes next, he stands in his playpen and begs to be put back in his high chair ... he continues to do this, even tho lately he won't even touch desserts/sweets. His tummy may not work, but there's nothing wrong with his little mind.
Last Thursday I got a call from the GI office ... the doctors schedule had changed and could I come in in an hour. The minds ticking .. 20 minute drive there ... find a sitter for Rebecca, drop her off ... oh, someone to pick Marietta up from school ... ah ... ya, if I had to I could. But they also had an opening the next morning ... phew ... I'll take that one ... at least I'll arrive with my head screwed on straight and be able to concentrate. Altho the pediatrician never said ... they must have put him on some sort of Emergency list to be able to get in already. The appointment itself did not determine anything but the most important outcome of this visit was that it was finally determined or agreed upon that he does not have a virus. We have always felt that this diagnosis was wrong and we are thankful that now others are in agreement and we can move forward.

Forward starts with blood work. They want to take a closer look at what his white cells are doing, which means he needs to go once a week for blood work, they will also monitor his liver a bit better this way. The other test we started with is a fecal fat collection test. We have to save all his poop for three days and bring it in for testing. So after his appointment on Friday I went right away to get his first blood work done. I received a call first thing Monday morning from the doctor. There are some subtle changes in his blood profile and he would like James to see a Hemotologist. They would like to look at his bone marrow in terms of whether he is producing enough white cells. This is not cancerous, with cancer one part of the blood takes over the other parts and doesn't allow them to produce, in this case they wonder if he simply is not producing enough. At this time they feel that he has some sort of rare disorder that effects his digestive system, it's a matter of determining what the disorder is. The GI hoped that I would be able to see Hemotology before my next appointment with him at the end of June.

Monday afternoon we seen the Pediatrician. We are so thankful for such a good thorough doctor, we really like her, she's really on the ball and she takes the time to listen!!! I think if we had had her our entire stay at the hospital things would have likely been done sooner. She seemed to really focus on James entire condition (eating, weight, inflammation, etc), whereas the 2nd doctor we got focused on the swelling and lymph nodes and didn't go further. The pediatrician told me that the GI doctor called her at home on Friday afternoon to discuss James. Although his condition is not life threatening (at this point) it is obvious that there is concern and good to see they are on the ball and not sitting around like before. Our pediatrician filled me in a bit more. The GI did not mentioned a biopsy, but she felt it was safe to warn me that there very likely would be one. The GI is sending us to Hemotology to determine exactly what they should do. They would like a biopsy of the bone marrow and are considering doing the liver at the same time since these two can be done during one procedure. She said it's possible this can be done yet before our holidays, but hard to say. I questioned whether they had a specific condition in mind at this point, but she said they were still in the process of narrowing it down. She did mention a few ... really long names ... but since they don't really know at this point ... I didn't really want to get into it too much. There is no point looking into and worrying about something until we know more, so I'll let them do their work and then I'll do my research.

The other thing accomplished from the appointment was to have his formula switched again. It hasn't actually been done yet, she wanted to look into it first and contact the GI dietician about what they would recommend. But once again, she's on the ball, she left a msg on my answering machine (but I wasn't home, b/c the van broke down and I was busy trying to figure out how to use the bus system ... much to the girls delight) an hour or so later about it and said she'd call me the next day to go over things. As well, she would like James to see a GI dietician. This would not be on as regular a basis as the current dietician, but it is in order to assist the current dietician. GI dieticians are a bit more specialized and once they have information on James my current dietician can contact the GI dietician for advise/help. And she said it would be fine to go on holidays, although there is some urgency to get things figured out, he has had this his entire life and three more weeks shouldn't matter ... so we pray.

I'm glad she had to call back the next day since we had a little episode that night and this way I could talk to her right away about it. When James was younger (not like he's old now) he would have it every now and then where he would wake up screaming. It's a specific cry which I dread hearing, more and more so now. When you get to him he's laying in bed but does not recognize you or acknowledge you. His eyes stare ahead and it's as if in another world. When you pick him up he's limp and just flops like a rag doll, then he may suddenly tense up and then flop again ... all-the-while screaming. We've had this happen several times, often it would happen a couple times in a couple weeks period and then not for several months, but each time it would last a little longer and each time I get a bit more scared. We always thought it was some sort of nightmare or night terror, altho it was scary he would always be fine afterwards and the next day it would be forgotten. This past month it's happen twice, but now we see that he's in pain afterwards. The first time after he came to again he would try sleep and would just be exhausted but suddenly would squirm and tense his legs and belly and cry, then ease and try sleep. This went on for an hour or so and then he finally slept. Monday night really scared me. Again he woke screaming, I got him out and was rather calm figuring I just had to wait it out and snuggle him and he'd be okay. But his eyes started to look like they were going to pop out of his head and then he started heaving and trying to vomit but wasn't able to actually spew it out so it just ran out the sides. All the while he's still screaming ... one minute/second limp, the next tense and hard to hold on to. It took a couple hours to get him back to a good sleep and then he woke the next day as if nothing happened.

I discussed this with the pediatrician. She mentioned also night terrors, but the last two episodes sounds more like seizures. There is not really anything we can do when they happen, but they will test and see if they can find anything. More blood work ... but at least it can be done with the other work he gets done. As well a urine test, which is easy enough. Once they get that they'll decide if he needs a EEG (stick the probes to the head to monitor abnormalities in the electrical activity of the brain). And of course, it's hard to say whether any of this is related to the rest of his issues.

So I think I sort of gave the run down of everything going on with our poor little guy. Oh, the milk and zinc tests that were done showed everyting to be normal. So, it would seem he doesn't have a full-fledge milk allergy, but since we've seen the difference in the diaper rash he probably has some sort of intolerance and it's best just to keep him off of milk formula (considering how much he drinks)... but he's allowed ice cream, pudding and all the yummy stuff again. If he reacts from having them we'll be able to tell how high that tolerance level is.