Galactosemia, then

24 Aug

Months ago, I started writing down this story, the details of our lives last summer.  But, life being what it is, I am just now finishing.  So, here is Isaac’s story, or rather, the beginning of the story of how through Isaac’s life, God is blessing me.

fam of 5

I was foolish enough to think that with my 3rd child, I couldn’t possibly come across anything new.  Isaac’s delivery on Friday, June 22, 2012 was like clockwork, and those first days home were smooth and precious.  Unlike my other two children, Isaac nursed like a champ which thrilled me because I didn’t want to have to use formula.  At his first visit with the pediatrician on Wednesday, Isaac appeared jaundiced so we were sent to the lab have his bilirubin checked.

On Friday, June 29, 2012, I sent Matt, his family, and our older kids on a day trip into the mountains.  An hour or so after they left, my pediatrician called to let me know that Isaac’s lab work had been mishandled.  His bilirubin two days prior had been in the mid-twenties and a test for possible infection was still pending.  I was assured that I would hear back from him soon to formulate a plan of action.

Less than 20 minutes later, Dee White with the UT Genetics Center called me.  Isaac’s newborn screening had shown an abnormality, but she told me that there was a chance that it was in error.  The solution was to have him retested and watch him carefully.  She asked a battery of questions about him.  No, he wasn’t acting sick; yes, he was eating well; no, he wasn’t vomiting.  I shared what I had learned about the bilirubin which made Dee’s warning flags wave.  She asked me the questions over again.  The answers hadn’t changed in those moments.  He was still acting just like I remembered my other two children being at one week old.  In fact, nursing was going much better than it had with them, much to my excitement!  Against her normal course of action, she shared with me that Galactosemia was a possibility for Isaac and asked me not to Google it, for fear of getting myself too worked up.  The most important thing to know was that he needed to be switched to soy formula right away.  We also agreed that he should have his newborn screening repeated that day, and Dee and I vowed to keep in touch throughout the day.

After talking with Dee, I took a shower, and I remember crying.  I was tired and the thought of something being wrong with Isaac was terrifying.  My other two children didn’t have this genetic disease, so surely my third would not either.  My mother was busy that day taking my grandmother and uncle to doctors’ appointments so my dad agreed to drive Isaac and me into Knoxville at lunch time for a repeat newborn screening.  Our pediatrician gave us orders for a repeat bilirubin check as well.  Daddy brought me soy formula which I reluctantly fixed for Isaac, and we started the trek to East Tennessee Children’s Hospital.  Dee has suggested having the ER look at Isaac while we were there if I felt like he was getting worse.  But, he was so precious and normal.  We had his blood drawn and headed home.  There could be nothing wrong with my trooper.

We were barely on the interstate when Isaac’s bilirubin results made it to our doctor and to Dee.  He was in the high 20s.  It was during that trip home that Isaac projectile vomited, and still in denial, I wrote it off.  Once we got home, I gave him more soy formula and put him by the window for some natural phototherapy.  Matt arrived home around that time, and we talked over all of what had happened that day.  I kept reassuring him that Isaac had to be okay, he seemed so normal, he was fine.

I honestly don’t remember those next few hours but at just after 6 pm, Isaac’s doctor called in what still stands out as the most important phone call I will ever receive.  He had called Children’s Hospital, and they were expecting us.  Naively, I packed a bag just in case we needed to stay overnight, and we kissed the big kids good-bye and headed out.  Matt had to stop and put air in his tire on our way, and while he was doing that, I received a call from Children’s.  A man from the ER was asking where we were, and he told us that upon arrival, we were to go straight to the check-in desk and give them our names for Isaac to be seen immediately.  For the remainder of the drive, Matt and I discussed the gravity of our son’s health condition; if the ER was calling and looking for us, this had to be serious.  Looking back on it a year later, I want to shake myself for being so stupid.

As instructed, we walked to the ER check in desk, and before I was able to get our names said we were taken back into a room.  I did what the nurses asked and undressed our little boy.  He vomited formula onto the bed and was given Pedialyte which he vomited almost right away.  For the next 30 minutes, several nurses worked to start an IV and draw blood.  Hearing my son, only one week old, screaming for so long was torture in its highest form.  I sat in the corner and sobbed, helpless and tired.  I was so grateful once the needles were gone and Isaac was able to get under a bili-light.

Our first huge blow in the ER was from the doctor on call.  Isaac’s bilirubin was 36.  Matt asked her what kind of short or long term effects we could expect from that level.  This veteran doctor said, “I do not know.  I have personally never seen a child with a bilirubin this high.”  I barely had time to digest that before she told us that Isaac wasn’t maintaining his temperature.  At only 92 degrees, his body could have been fighting an infection.  Second bomb… “We are going to have to treat him with broad spectrum antibiotics because he is not stable enough to do a spinal tap.”  Not stable enough?  How was this happening?  We would find out days later that by that day his Gal-1-P (galactose level that should have been a single digit) was 112 .  Had we waited another day, our best case scenario would have been a child in a coma.

Isaac’s crib was wrapped in plastic wrap to insulate him as the bili-light worked to lower his bilirubin.  Matt, my parents, and I took turns sitting with him although there were times when I was so upset listening to him cry that I would have to leave the room.  A mother’s most basic of instincts is to protect her child, to comfort him, and I was failing at that.  We were told that we would be moving to the PICU, but it was well after midnight before we made the move.  If memory serves me right, at almost 2 in the morning, Matt and I walked beside our son through back hallways as we went to the PICU.  He experienced several bouts of apnea on that short trip, and our nurse would gently shake him to get his heart rate elevated.  That was another worry to heap on our tired minds.

I am not sure when my parents or Matt left that night (or technically, that morning) but I imagine it was around 3.  We were all so drained, and only one person was allowed to sleep in Isaac’s room.  Matt wanted to be home to see the big kids and let his family know what was going on.  I was resigned to sleeping in what reminded me of a dental chair, and surprisingly, I did sleep soundly.  The nurse came and tended to Isaac throughout the night, and I was oblivious.

Saturday was discouraging because Isaac refused to eat.  He had lost more than a pound and a half in a week, and he drank less than 2 ounces of formula that entire day.  It turned out, he just hated the formula we were giving him and after a switch, it made a huge difference.

june 30 matt feeding

I was so grateful for feeding times because they were only times when we were allowed to hold Isaac.  Otherwise, he was laying on a bili-blanket with two sets of bili-lights shining on him.  (In the picture below, you can see the large blue lights on the right, and you can see a spotlight on him.  The large tube in between his legs contained the cords for the bili-blanket underneath him.)

image

june 30

(Above, Isaac’s bruised hand from a failed IV attempt in the ER.  He was so dehydrated that they had trouble getting his IV in.  The nurses got finally got it in a final attempt before he would have had to get one in his head.)

Between being rehydrated, stopping breast milk, and the lights, Isaac’s bilirubin levels started dropping, slowly but surely.

Sunday was a hard day.  Matt’s mother had to go back home to Mississippi, and it broke my heart to be losing Nana who had been such a huge help with Norah and Aaron.  I imagine that she had a hard time leaving with Isaac so sick, but thankfully we had my parents and Matt’s sister living close by.  Matt and I were trying so hard to make life normal for the big kids and one of us was with them as much as possible.  Our hearts were in two different places though, and I honestly can never explain the ache I felt in being with either one child or the other two.

I wish I could remember more details of Sunday or Monday, but I don’t.  I spent so much time in the PICU, and since we were still hopeful that Isaac didn’t have Galactosemia, I was pumping multiple times a day so that he would have plenty of breast milk to drink once he was better.  The best event of Monday was the move to a regular room and good-bye to the lights!  (Below, Isaac napped while we were waiting on our escort out of the PICU.  Also, Norah and Aaron see their little brother for the first time in several days.)

july 2

july 2 norah july 2 aaron

On Tuesday, Isaac’s eyes were checked for cataracts which would have been a tell-tale sign of Galactosemia.  He had none, thankfully.  All of his numbers looked better, and his color had improved greatly.  We met that day for the first time with Dr. Anderson, the geneticist at UT Hospital.  We were still hopeful that we would never see her again assuming that we got back results that Isaac wasn’t Galactosemic.  (As an aside, that was a horrible morning for me personally though because I got a flat tire on an interstate ramp in Knoxville and my van ended up having to be towed.  Thank goodness for AAA and a dispatcher who was sympathetic to my situation and said I was obstructing traffic when she called for a tow truck so that they would come more quickly!)

We hit a big “stall” on Wednesday in that it was the 4th of July.  With it being a holiday, I had a harder time getting any answers as to how much longer we would be there or when we would have any firm answers about the Galactosemia.  My mother and her dear friend Pam sat with Isaac that day so that Matt and I could go out with the big kids and my dad.  We went to the lake and for a few hours, life seemed terribly normal.

On Thursday morning, July 5th, I called Dee to let her know that we were going to be headed home later that day.  She told me in that phone call that Isaac’s newborn screening results had come back late on Tuesday night.  It was official.  Our son had Galactosemia.  I made phone calls, sent texts, wrote emails.  A friend and former minister of ours came by not long after I found out, and I explained it all to him.  For the first time ever, I described Galactosemia, not as a potential problem for Isaac but as our new reality.

We went home later that day 7 days after we had arrived.  I left carrying grocery sacks full of frozen breast milk that I would never and absolutely could never give my son.  And honestly, as lame as it sounds, I mourned over that stupid milk more than I probably should have.  Even after getting home that day, a nurse called to tell me that I had left some milk there.  She was shocked when I told her to throw it away, and when I got off the phone with her, I was physically ill thinking about the hours I had wasted on that milk.  (Several people suggested I donate it, but because of a medication I was taking, it wouldn’t have been accepted.)

Really, I really shed very few tears in that week at Children’s Hospital.  Other than the first hard night, I was okay.  In the PICU, I listened to the radio often and heard a song that became my theme song.  Kari Jobe’s “Steady My Heart” was my anthem and my prayer.  The Lord heard that prayer and steadied me.  He reminded me that my worrying about the outcome of Isaac’s blood work was absolutely pointless.  God gave me a crazy amount of peace, and I know it was supernatural because I should have been a wreck.  Galactosemia is genetic; it is a part of the DNA.  But, I knew that God had decided Isaac’s metabolic fate long before then.

Now at over a year ago, in some ways that all seems like a dream.  I know that in those first days and weeks after the diagnosis, I would be moving along totally normally before remembering it all and having an elephant sitting on my chest.  Heavens, even typing this now I feel that weight on my sternum, a physical push that almost keeps me from breathing.  I’m not sure if that will ever totally go away, but when I think of how far we have come, I realize that it doesn’t matter.  He survived.  We survived.  We are all surviving.

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2 Responses to “Galactosemia, then”

  1. Robyn August 26, 2013 at 4:32 pm #

    I literally gasp for air and my chest is heavy, every time I recall our story, or read someone else’s. xoxo

    • bethannmsmith August 26, 2013 at 5:42 pm #

      That is why it took me months to write our story out. I could only think about it for so long before I would need to put it away for several days.

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