Alexa has regularly scheduled appointments with her metabolic team every 4 months. We are usually at the hospital laboratory at 8am for a slew of blood work. We then meet with her wonderful dietitian her nurse, resident doctor and staff doctor( in addition to any students that might be there on that particular day). She is weighed, measured and all the milestone questions are asked and they do a quick assessment of her. They are always full and busy mornings. Her ammonia results are given right away, and based on her amino acids results(which take a day or two) and her height or weight gain, her medication and diet may be adjusted.
At our last appointment on December 13, her height and weight gain was minimal, almost nothing at all. There is a daily average that each child should be growing and based on when she was seen prior to that(August) her growth did not even come close. In addition she fell off her growth curve for both.
Now she was sick for most of October and November with some kind of illness or another, so the minimal growth, although concerning might have been very well explained by that. We were to keep close contact with our dietitian and have another height/weight done in about 2 months time. If something needs to be adjusted we wanted to make sure we caught it before our next appt which just got postponed from April to May. Her amino acids came back slightly low even though her prescribed protein per kilo should be enough, so the dietitian suggested more calories added to a few of her daytime feeds.
That brings me to the title of this post. MOMMY! I am soooooo hungry!
Words that I have not heard very often in the 4 1/2 years of Alexa's life....until these last 2 weeks. I am not sure what happened to my picky eater, but this girl is HUNGRY! Her appetite has increased A LOT...so much so, that even her teachers have noticed...
Yesterday and today, she ate BOTH morning and afternoon snack in the morning, and then ate all her lunch and ate a muffin for afternoon snack! Plus all her formula! Noting that she ate both snacks in the morning yesterday, this morning I gave her extra food with her breakfast hoping that would keep her until snack...well she still ate both snacks at morning break and at lunch was starving again! She gobbled up a sandwich in less than 5 minutes.
This would be wonderful and it is, except that we may be getting to a point where I am going to have to start restricting her food intake(or type of food offered) for fear of going over her 8g protein daily protein allowance. Something I have never had to do. EVER!
Her dietitian and I spoke yesterday and we suspect that she may be going through a growth spurt! Which is wonderful considering her lack of growth from August to December, but in UCD patients growth spurts need to be monitored very carefully. She was already low on her amino acids and if she is needing more calories to support the growth spurt and we don't give her enough, her body can start to decompensate and fast!. This of course can result in elevation of her ammonia....So as much as I LOVE to see my girl eat and ask for food(we have worked soooo long to get to this point); it scares me and makes me anxious. I have to watch her carefully! And we will have to get lab work done in 2 weeks time, if not sooner. We were supposed to go to our last HPN study visit in Cleveland on Friday(and we would have had all the weight/lab answers) but Alexa was a little under the weather, so we had to cancel and are hoping to reschedule for next Friday. If this is not possible, we are going to have to make an additional trip down to Sick Kids for labs, height and weight follow-up. We are going to have to keep on top of this. Until then I will be giving extra fruits and low protein items and hoping that I do not have to say "No" to too many food requests.
That's all for now...looks like it is snack time as my girl is hungry! Seriously!
Thursday, January 24, 2013
Sunday, January 20, 2013
Meds, Formula and Food!
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.
FORMULA:
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...
FOOD;
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!!!
MEDICATIONS:
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!
I shall start by talking a bit about Alexa's medications, formulas and diet.
FORMULA:
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...
FOOD;
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!!!
MEDICATIONS:
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!
Saturday, January 19, 2013
How It All Began...
On June 20 2008, after 9 months of a seemingly uncomplicated pregnancy we welcomed into our family, the most beautiful baby girl I had ever laid my eyes on-Alexa Sierra Morales.
We stayed the normal 2 days in hospital in which everything seemed to be going smoothly. Apart from some hiccups with breastfeeding, everything was perfect. The day we were discharged, the nurses performed the heel poke test, also known as newborn screening test (NBS). It was so routine, that the nurses didn't even really explain what they were doing since we were all napping.
(More information on NBS here: http://www.newbornscreening.on.ca/bins/index.asp)
We were discharged and again all appeared great, with the exception of my lack of confidence in whether I was breastfeeding right and whether she was gaining weight. The two day follow up with our family doctor did not raise any alarms. I saw a lactation consultant--everything was great; I called tele-health after 1 episode of vomitting--was told everything was fine and normal for a newborn.
June 28 2008--The day before my world came crashing down around us! From here on I remember such tiny minute, maybe even irrelevant details; and others are a complete blur.
This day was my sister-in-law's birthday party. We were so excited to take out our bundle of joy and show her off to the world. We dressed her up in a beautiful pink and white summer dress and got on our way.
Alexa had slept a good 5 hours straight the night before, but I had to wake her up to eat that morning. At the party she slept, and slept, and was passed around from one family member to another and she still slept. Again, I had to wake her up to eat. She fell asleep a little bit after that. I was getting concerned--Was it normal for newborns to sleep that much? Shouldn't she wake up to eat? The answer I kept hearing was that she was fine; she is growing; she is getting her rest; I was just too nervous and needed to calm down; maybe I was going through the baby blues, etc, etc.... I still had something nagging at me telling me that something wasn't right...We went home and she slept all through the night; about 7 hours. Again, I woke my darling girl up to eat and as we were finishing up, at about 9am on June 29 2008, I received a call from a doctor, with the Ontario Newborn Screening Department in Ottawa, Ontario. One of Alexa's screening's came back positive and they were concerned and asked me to bring Alexa to the Hospital for Sick Children in Toronto, Ontario.
I knew it was bad--anyone knows that you do not get a call from a doctor on a Sunday morning unless it is bad! That was it--all my suspicions, all my fears, in one phone call--Confirmed--Something was wrong with my baby! But what! Never would I have been prepared for what came next.
We rushed our baby girl to the hospital, where the ER staff had been waiting for us. They whisked her away and started to try to get an IV into her while the on-call doctor tried to explain to an incoherent mother and father what they suspected.
They suspected that my daughter, had citrullinemia, one of the Urea Cycle Disorders. Come again?!? What the hell is that? I had never heard of that. The doctor was not surprised as it only affects 1 in 40, 000 we were told. They needed to run a blood test and see if her ammonia was elevated (a word that I have come to detest in my life...if only back then I knew what we were in for--it was probably better that I had no clue). That test would confirm whether it was just a false positive or not.
After 2 hours of poking and poking my baby to try to find an IV, they finally got one and got the blood sample sent to the lab.
I will never forget the room that I was in, the look in my husbands face, the despair we felt, when the doctor walked back into our room. The look in her eyes gave it all away; She apologized and I couldn't hear the rest....I knew then that my 9 day old baby girl had this UCD they spoke of. Her ammonia came back at 180. (Normal ammonia is up to 50)
Alexa was taken to the Neonatal Intensive Care Unit, where they worked fast and feverishly to bring down her ammonia. My feisty baby girl gave those nurses a battle when her IV came out. They put in a PICC line and things started to improve quickly from there. After 2 days we were transferred to the ward on floor 7(a ward that we have gotten to know all too well). We were in the hospital for about a week in which Alexa did wonderfully; started to eat her medicated formula, breastfeed and take her medicine orally.(more on that to come later)
That week Chris and I learned what life was going to be like living with a child with citrullinemia. It has been quite a journey filled with ups and downs. I am summarizing what feels like a lifetime into a couple words; I have definitely left some things out. The important stuff is here.
What those first days of my baby's life taught me:
1) There is not a doubt in my mind that NBS saved my baby girls life!!! NO QUESTION AT ALL! If your province or state does not perform it, please do whatever you can to do it on your own. If there is an option to opt out of it, please reconsider!
2) If you are pregnant, have a child, and have a suspicion that something is wrong--TRUST YOUR GUT! Don't let anyone tell you otherwise...Seek another opinion, seek a third, get an answer that makes sense! TRUST YOUR GUT!
 |
| Alexa Sierra Morales (June 20 2008--7lbs 14oz) |
(More information on NBS here: http://www.newbornscreening.on.ca/bins/index.asp)
We were discharged and again all appeared great, with the exception of my lack of confidence in whether I was breastfeeding right and whether she was gaining weight. The two day follow up with our family doctor did not raise any alarms. I saw a lactation consultant--everything was great; I called tele-health after 1 episode of vomitting--was told everything was fine and normal for a newborn.
June 28 2008--The day before my world came crashing down around us! From here on I remember such tiny minute, maybe even irrelevant details; and others are a complete blur.
This day was my sister-in-law's birthday party. We were so excited to take out our bundle of joy and show her off to the world. We dressed her up in a beautiful pink and white summer dress and got on our way.
Alexa had slept a good 5 hours straight the night before, but I had to wake her up to eat that morning. At the party she slept, and slept, and was passed around from one family member to another and she still slept. Again, I had to wake her up to eat. She fell asleep a little bit after that. I was getting concerned--Was it normal for newborns to sleep that much? Shouldn't she wake up to eat? The answer I kept hearing was that she was fine; she is growing; she is getting her rest; I was just too nervous and needed to calm down; maybe I was going through the baby blues, etc, etc.... I still had something nagging at me telling me that something wasn't right...We went home and she slept all through the night; about 7 hours. Again, I woke my darling girl up to eat and as we were finishing up, at about 9am on June 29 2008, I received a call from a doctor, with the Ontario Newborn Screening Department in Ottawa, Ontario. One of Alexa's screening's came back positive and they were concerned and asked me to bring Alexa to the Hospital for Sick Children in Toronto, Ontario.
I knew it was bad--anyone knows that you do not get a call from a doctor on a Sunday morning unless it is bad! That was it--all my suspicions, all my fears, in one phone call--Confirmed--Something was wrong with my baby! But what! Never would I have been prepared for what came next.
We rushed our baby girl to the hospital, where the ER staff had been waiting for us. They whisked her away and started to try to get an IV into her while the on-call doctor tried to explain to an incoherent mother and father what they suspected.
They suspected that my daughter, had citrullinemia, one of the Urea Cycle Disorders. Come again?!? What the hell is that? I had never heard of that. The doctor was not surprised as it only affects 1 in 40, 000 we were told. They needed to run a blood test and see if her ammonia was elevated (a word that I have come to detest in my life...if only back then I knew what we were in for--it was probably better that I had no clue). That test would confirm whether it was just a false positive or not.
After 2 hours of poking and poking my baby to try to find an IV, they finally got one and got the blood sample sent to the lab.
I will never forget the room that I was in, the look in my husbands face, the despair we felt, when the doctor walked back into our room. The look in her eyes gave it all away; She apologized and I couldn't hear the rest....I knew then that my 9 day old baby girl had this UCD they spoke of. Her ammonia came back at 180. (Normal ammonia is up to 50)
Alexa was taken to the Neonatal Intensive Care Unit, where they worked fast and feverishly to bring down her ammonia. My feisty baby girl gave those nurses a battle when her IV came out. They put in a PICC line and things started to improve quickly from there. After 2 days we were transferred to the ward on floor 7(a ward that we have gotten to know all too well). We were in the hospital for about a week in which Alexa did wonderfully; started to eat her medicated formula, breastfeed and take her medicine orally.(more on that to come later)
That week Chris and I learned what life was going to be like living with a child with citrullinemia. It has been quite a journey filled with ups and downs. I am summarizing what feels like a lifetime into a couple words; I have definitely left some things out. The important stuff is here.
What those first days of my baby's life taught me:
1) There is not a doubt in my mind that NBS saved my baby girls life!!! NO QUESTION AT ALL! If your province or state does not perform it, please do whatever you can to do it on your own. If there is an option to opt out of it, please reconsider!
2) If you are pregnant, have a child, and have a suspicion that something is wrong--TRUST YOUR GUT! Don't let anyone tell you otherwise...Seek another opinion, seek a third, get an answer that makes sense! TRUST YOUR GUT!
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