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!