Since today is 'Rare Disease Day', I thought I'd explain Evan's metabolic condition in case there were people who didn't fully get it. Evan has MSUD.
MSUD is Maple Syrup Urine Disease. It's a biochemical disease and it means that Evan is missing a family of enzymes in his liver that break down 3 specific amino acids.
When you eat protein it breaks down into 20 amino acids and your body uses them to grow, build muscle/tissue etc. Each day your body only needs a certain amount of each amino acid and the rest is overage and this overage is very toxic to you so enzymes blast the overage into smaller safe bits. For Evan, 3 of the 20 amino acids cannot be blasted so they collect in his body very quickly and 1 of the 3 is highly toxic to the brain and will cause brain damage, coma or worse. So Grayson cannot eat meat, fish, eggs, diary, soy, tofu, grains, nuts or anything normally thought of as rich in protein.
So what does he eat? Well he has a formula, just like all kids, but his has quite different in composition. This medical formula gives him all the fats, vitamins, minerals etc but instead of also having protein, it has the 17 amino acids in powder form that he can process and is without the 3 he can't break down. He still needs to get those missing three aminos, as the body needs them every day, but we do math and use a scale to determine how much real food to give him so that just enough leucine is in his body, with no overage and no underage (if that's a word?). He mainly eats fruits and vegetables. He does also eat some pastas, rice cereal, and risotto. Gerber baby food company is wonderful and has been able to share with us the amount of leucine found in most of their foods so we are able to give Evan more than we otherwise would. It's a very delicate balance as we must expose Evan just an exact amount of protein each day...to the decimal. Right now he gets 63mg of leucine (leucine is the problem amino acid) per kilo of his body weight. This week he is 9.45kg so that means he gets 63 x 9.45 = 595.35mg of leucine per 24 hours. On average a gram of protein has 68mg of leucine so that means he can have 418.4/68=8.755 grams of protein per 24 hours. To give context, a measuring cup of skim milk has 9g of protein and Evan can only have 8.755g/24 hours. (I learned through my friends that this is more than some children. Grayson, the original poster's son, only gets 40 g/kilo. which is less than 7 grams of protein per day for him) Evan gets his blood checked weekly at a local lab and his blood is sent out of state because to be analyzed. There is no machine here in NM that can analyze his blood, so we often wait almost an entire week to get the results. (Many of the other families we talk with get their results same day or within 48 hours). He has a dedicated dietician at UNM who reviews he protein intake every week and makes adjustments and he has a dedicated geneticist. He cannot eat a gram more of less of his required intake or he can go toxic.
Food isn't only one way the body gets protein. The other way protein is introduced into the body is if the body metabolizes its own resources (which is how you lose weight). This is called çatabolism. Your body goes catabolic when you don't have enough of a specific resource it needs (fat/sugar/protein etc) and it eats its own reserves. Since muscle is protein (just like a chicken breast is a great protein source or a steak), if Evan goes catabolic it can release uncontrolled amounts of protein in to his body and therefore increase his leucine levels. The body also goes catabolic when there is a stressor like a cold, or teething or an injury etc. Also, blood contains whole proteins in it. Two nights ago my friend's little boy, Grayson, was standing and then fell and hit his lip on the drawer and cut his gums. Since he would be swallowing his own blood and that whole protein would break down into amino acids in the stomach, the Dr's had them decrease his protein intake by 40% for 12 hours just to be safe. That was something I had never considered in regards to Evan.
So it's the tightest of tightropes. He can't have anymore protein in his diet that what his body needs for that day, but if he eats any less, the body will simply go catabolic to get at it. This means that each day we measure and calculate and hope that we got it right.
This is a little bit of insight into the inner workings of our day to day with Evan. In addition to his MSUD, he also suffers severe reflux issues and will vomit sometimes once a day. It's a struggle, but we have been lucky so far that his levels have stayed normal for most of his 11 months of life. We are also lucky that liver transplant is an option for us. We have learned that many of our friends both in the US and outside the US have difficulties in either getting their doctors on board, getting insurance approval, or even in their country's belief in using liver transplant for MSUD treatment. At this point we are still waiting for Evan's liver transplant so that we can begin our "new normal". We are hopeful that we will get the call soon.
Today is Rare Disease Day~ The disease may be rare, but hope should not be! Hope, it's in our genes!
