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.
Alexa Sierra Morales (June 20 2008--7lbs 14oz)
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:
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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