I have been struggling with this (and future) post because I would like to try my best to summarize our last four years concisely enough to keep in all the important points in and at the same time keep it short enough not to bore everyone.
I shall start by talking a bit about Alexa's medications, formulas and diet.
Alexa currently takes medicated formula to give her the appropriate amount of calories and amino acids that she requires daily. It is a combination of 3 different formulas(Cyclinex-2, DuoCal and Essential Amino Acid mix) plus water and a tiny bit of homogenized milk. To say that it may not be the greatest tasting drink is an understatement; but our girl takes all 4oz, 4 times per day and usually without fight! She has actually gotten very good at taking it. This I attribute to our doctors pushing us to try with her from the beginning, from about 11 days old...
In addition to this formula, Alexa is currently allowed 8g of protein daily. If anyone has read nutritional labels, you know that 8g is very little--approx.1 large egg or 1 hotdog (no bun) or 1 glass of milk. And this is what she gets to eat in a whole day, so most dairy and all meats, poultry and fish are excluded from her diet.
One would think that considering Alexa is only allowed 8g of protein, it would be easily attainable. If anyone knows Alexa, you know that was certainly not the case. Until recently (thanks to a new medication I will shortly discuss), as is the case with many UCD patients, attaining her intake was a STRUGGLE. Alexa had a very little appetite, in fact ALMOST no appetite at all.
But now, she is doing so well; REALLY well. She now ASKS for food regularly....
So what does Alexa eat? Well she loves pancakes, waffles, french fries, hashbrowns (most forms of potatoe are a huge hit with UCDers), rice, cereal(with chocolate almond milk), anything with ranch dressing, a limited amount of yogurt, limited amount of egg yolks, LOTS of fruits, some veggies, low protein pasta and some additional low protein items (mushroom patties and nuggets). Oh right, can't forget the Butter! Butter with everything and lots of it. Which is ok for us, cause she needs those extra calories.
It may not seem like a big variety, but to us, this is AMAZING. A year ago her diet consisted of hashbrowns ONLY, so this is HUGE IMPROVEMENT! I love hearing Alexa ask to try something...music to my ears after 2 years of fighting at every meal!--LITERALLY!!!
From the day Alexa was diagnosed, she took two medications 4 times per day until she was 4 months old, and then 3 times per day from then on.
Sodium Phenylbutrate (Buphenyl) is a medication designed to remove excess ammonia from the blood. We had it in powder form and mixed it with fruit puree. Alexa took this orally always. It is not an easy medication to take. It has an extremely bitter and pungent taste...Basically it tastes AWFUL! I also have come to learn that it also has many negative side effects--nausea being the one that affected us the most. There were many times when Alexa would throw up all her meds, formula and food after taking the buphenyl. And then have to be forced to take them AGAIN!
L-Argenine is an essential amino acid which helps the urea cycle function more efficiently. We get it as a liquid oral form. I think it has a bitter taste but Alexa takes it without an fuss at all!
In February 2012, Alexa was blessed enough to be enrolled in a trial for a medication that is currently seeking FDA approval in the USA. We travel to Cleveland to be able to partake in the study. From what I understand, Alexa is the only Canadian under 6 years old taking it. It essentially replaced the buphenyl. This medication, known right now as HPN-100, was our life saver. It is a tasteless, odourless medication whose base is glycerol as opposed to sodium. From the day she was on it, our lives changed. In fact, we did not realize how bad things were until we switched to HPN. Alexa still takes it 3 times per day but the dose is so small in comparison to HPN. To put it into perspective, an adult on buphenyl might take on average 15 tablets PER dose! An average dose of HPN is about 5 or 6mls...
From the very day that she started this medication, her appetite improved. GREATLY....she actually HAD an appetite. The daily nausea and stomach aches disappeared; she started eating (and by herself!), She jumped from 10 percentile of height to 32 percentile in about 3 months time. Oh and to boot....ammonias have never been better. Prior to this medication, Alexa's ammonia averaged anywhere from 50 to 80, now she is constantly in between 20 and 40! Almost half what it was!
I wish the FDA would hear me speak about this medication; if there was any doubt at all as to its worth, 10 minutes with me and I am sure they would be convinced!
In future posts, I will talk about some of the other improvements Alexa has had since being on this medication, but I thought I would leave this post to her diet! It's alot in itself!
I failed at my attempt to keep it short...I will try again next time!