Archive | August, 2013

Galactosemia, now

26 Aug

Isaac is now 14 months, and he really is a wonderfully healthy, normal baby.  He hasn’t suffered from cataracts, and although his blood work hasn’t always made me happy, his galactose level has continually gone down.  I had envisioned him getting below 4 so much more quickly than he actually did.  But, regardless, he is there… a 3.2 Gal-1-P as of the end of July.  His doctors and I are over the moon for that.

Isaac has always tended more towards the small side, but last week confirmed it again as he registered in only the 9th percentile on weight.  I was disappointed because he dropped off the chart in height.  I was told that we are doing everything right and advised to make sure that his calorie count stays up.  He will be on infant formula at least until the first of the year at which point we may be able to transition to toddler formula.  Hopefully with the addition of more teeth, he will also be able to eat more and more.

Isaac’s fine motor skills have been just as they should be, but I feel like his gross motor skills are a little behind.  He is such a content baby that he has never been in a hurry to master anything.  Even now, he refuses to roll from his back to his stomach.  The child can crawl and pull himself up, but when he is on his back, he will stay there until someone puts him elsewhere, the little turkey.  This week though, he has moved a little more towards independence as he will now walk along behind a push toy.

Thankfully, the boy is a great sleeper.  Maybe it is because as the 3rd child, he was forced to sleep without being held.  Or it could be that since his room is the farthest from mine in the house, we don’t ever hear him in the night.  Either way, he sleeps around 12 hours each night and 2 hours in the day.  At some point, he and Aaron will be sharing a bedroom, but I want to try to keep them separate for as long as I can so that Aaron’s middle of the night wake ups will not affect him.

I hardly remember our life without Isaac now… or our life without Galactosemia.  I really do believe that God is using this disease and will use it in our family and in Isaac’s personal testimony for many years.  And as much as I really do hate Galactosemia, I am believe that God has a redemptive purpose for it.  So far, it has already helped me form friendships with some amazing people across the United States, and it will be the catalyst for our family’s first trip to Disney World next summer when we attend our first Galactosemia Foundation conference.

I am just forever grateful that God blessed me with this boy, my Isaac, my laughter… I do love him so.
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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.)

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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.

The Smiths Take Dallas (and sorry–this be long!)

16 Aug

It is hard to believe that we are already almost a week past our family trip to Dallas.  Really and truly, it was a pretty good trip.  As I sit and reflect, it is amazing that in less than 60 hours we flew to Dallas and back and participated in a wedding with 3 children ages 5 and under… and we all survived!  The trip was ripe with funny moments as well as some sweet and special ones, and I am so grateful that we were able to go celebrate the marriage of my baby brother and my new sister-in-law.  If nothing else was gained, I came away loving and respecting the two of them even more.

Ok, so last Friday morning we left our house around 6:45 am.  On the way to the airport, we prepped the kids on what to expect with the security checkpoints and the plane.  We got to the airport an hour before our flight, but it took 30 minutes to just get our boarding passes printed.  Because Isaac was a lap baby and didn’t have a ticket, we had to jump through hoops.  So, between 7:30 and 8 o’clock in the morning, McGee Tyson Airport patrons were treated to Cheerio juggling (which was successful only in Cheerios hitting the floor and rolling every which way), a dance party to whatever music was being piped through the overhead speakers, and a toddler tantrum halfway between the bench where Daddy sat and the counter where Mommy played 100 questions with the American Airlines employee.  We finally headed to security where I found the sign that children under 12 didn’t have to remove their shoes.  News to me.  What a waste of 10 minutes in the car discussing quick removal and retrieval of shoes.  (They ended up taking them off anyway, much to the chagrin of the agent who was trying to keep the line moving faster than small children will allow.)  Also, another time consumer was having to declare Isaac’s formula, and the fact that the stroller had to be fold and x-rayed, Matt’s laptop had to be removed from his bag, and I had to frantically find the hand sanitizer that the kids had moments before proudly told me they had stashed in my bag.  We had to basically force everyone to use the bathroom one last time before boarding because they kept insisting that they could use the one on the plane if they had to.  Matt and I both emphatically said no to that one and put a pull-up on Aaron as a back up.

Best I can remember, the plane ride was uneventful.  The kids started asking when we would be to Dallas about 15 minutes after we took off which reaffirmed our decision to fly for 2 hours instead of drive for 15.  More costly?  Yes.  But probably worth every penny for sanity reasons.  Isaac’s diaper did start leaking before we even reached cruising altitude so that was less than awesome.  The pull-up for Aaron ended up being a wise move though.  Thankfully the loudness of the plane was able to drown out his play-by-play of how badly he needed to go and couldn’t hold it much longer.  We were hungry, thirsty, and quite glad to finally get off the plane and head to find my waiting parents.

I must take this moment to point out that the Dallas-Fort Worth airport is like a gated city that was designed by a drunk man.  You can’t get in or out without going through gates, and there are signs and roads going every direction which is only made more confusing by the fact that there is ongoing construction with detours.  So, in just trying to find our pickup location, my parents got lost.  And then, of course, after loading up and trying to get out of DFW, we got lost.  As every adult strained to read the signs and try to determine how to exit onto the road that we actually wanted to be on, the children sat taking it all in.  And then out of the mouth of our 2 year old babe came a phrase that our family will probably quote for years to come.  Aaron very matter of factly said, “Dis doesn’t make any sense!”  Smart kid.

Norah, Mother, and I were going to meet my brother’s fiance and the women of her family at a nail salon for mani-pedis.  My dad, who was driving, was smart enough to make a stop at a Sonic on the way though.  (He is a very wise man because even though to get there he U-turned where there was a sign saying not to, he recognized that the potential wrath of a cop was far easier than the certain wrath of Ann and Beth Ann without Sonic.)  Us girls enjoyed spending time with Christel and her family, and it really was wonderfully relaxing.  The only time when I was on edge was when Matt would send me text messages.  See, being huge fans of The Big Bang Theory television show, my text alert from Matt on my phone is a clip from the show.  It is when an impaired Sheldon is singing the chemical elements during an award acceptance speech.  At one point, he encourages audience participation by shouting, “Everyone!” before a few minutes later shouting, “Just the Asians!”  As are the majority of the nail salons I have ever been in, this one was staffed entirely by Vietnamese people.  Um, awkward.

jay sees kids
The big kids seeing Uncle Jay for the first time!

Friday afternoon brought the rehearsal which went great.  Isaac clearly loved being pulled down the aisle in a darling wooden wagon and thankfully, neither of the big kids had to pull him!  I had been envisioning quite the disaster there.  During that night’s rehearsal dinner Matt’s sister Grace and her husband Bill had driven up to help by keeping the big kids.  They got to swim in the pool and have much more fun than they would have at the dinner.  Grace and Bill stayed that night in our room with us which was a tad comical.  They had Aaron in the bed with them, and Matt and I had Norah with us.  I think the children slept fine, but the adults all agreed that the arrangement left much to be desired.  At some point in the middle of the night, Bill was asleep on the floor next to Isaac’s play pen.

Saturday morning and early afternoon brought some great time with my almost sister-in-law and her other bridesmaids.  She has really precious friends, and I enjoyed getting to know them.  And like I said earlier, I think everything that day went as well as it could considering the kids were tired and thrown off schedule.  I think we managed to get some great photos of them in their wedding duds, or at least I hope we did.  I resigned myself to the fact that whatever the photographers took would be Norah’s 5 year picture and Isaac’s 1 year picture, so here’s hoping for some winners!  In the time leading up to the wedding, I was too distracted because I ended up with some small greasy fingerprints on my dress which were thankfully easily hidden by my bouquet.  I really stressed using the restroom to the big kids so as to avoid that problem mid-ceremony.  Isaac was in his wagon with a bag of Cheerios to keep him happy.  I had my brother’s ring on my hand to hand over at the appropriate time.  Everything was good to go.

smith 5
The Smith 5  (Aaron is clearly McGraw because he wouldn’t stop talking.)

isaac steps
If a more precious 1 year old exists, I sure have never seen him!

We lined up in the hall and I watched my brother trying not to cry as we waited.  It was so surreal… this kid who had annoyed the fire out of me growing up is now a man with real emotions.  As the best man and I were preparing to be some of the final ones to go down the aisle, I was trying to encourage my children to be on their best behavior.  I’m not really sure why, but Aaron decided that he didn’t want to walk next to the wagon like he was supposed to and he ended up following me down the aisle.  From what I hear he looked cute doing it, though.  The junior bridesmaids, Norah, and Isaac made it beautifully, but very quickly after the wagon made it to Matt, I realized something super important I had forgotten to do.  From my spot up on the stage, I watch Matt put Isaac on his knee, shoot me an evil eye, and mouth the words “Isaac has wet through.”  Oooooh, yeah.  I forgot to change his diaper.  There wasn’t much any of us could do at that point, but I would have felt worse had I not spent time the day before on an airplane with a wet spot on my leg.

jay kids
I am so proud of this man!

The ceremony was really great.  My dad officiated, and it was beautiful.  My brother cried which was so endearing to me.  From my spot as the matron of honor, I got to see his face for every minute of it, and I think my love for him grew 100 fold.  And except for Norah turning around to tell me she saw an airplane out the window and give me a thumbs up, my kids were angels.  There were a few photos left to be taken after the ceremony and my children may or may not have been bribed with money, candy, and cake in an attempt to get them to cooperate.  You do what you’ve gotta do, right?

The reception was a Galactosemic parent’s worst nightmare just because we had no idea what was in anything.  I fed Isaac some baby food and then gave him crackers to eat when he turned his nose up at fresh fruit.  Several crackers into it, Matt jerked them away and said he thought they tasted butter.  Fantastic.  I had never even thought of that.  Mothering fail.  Thankfully, Matt took the kids back to the hotel to go to bed once it started getting late.  I was grateful for the chance to visit some more and see my brother and his wife off on their honeymoon.  It did confirm to me my status as a true geriatric though because I thought I would fall asleep standing up towards the end.

Aaron’s reception funnies…
My brother came to find me and said, “The toasts are going to be in about 10 minutes,” to which Aaron excitedly replied, “Oh, I want toast!”
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During the toasts, Aaron ran to me up at the front and said loudly, “Mom, do you amember when we wode on da pwane?”
“Yes, I do remember when we rode on the plane,”
“Dat was awesome!”  And then he ran to sit back down.  Two year olds are the Earth’s most random creatures.
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During the Cha-Cha Slide, when the music said, “Everybody clap your hands!” he began crying and said, “Mama, I don’t want to clap my hands!”  He also spent part of that song with his shoes over his ears saying, “Dis is too wow-ed, Mom!”

Sunday morning came far to early, but I was so ready to be back home.  My cousin Sherrie took us to the airport.  She lives in Atlanta so she knows traffic, but in our efforts to get into the airport and to the correct terminal, even she exclaimed, “This is ridiculous!”  Aaron, of course, had to give his two cents and said, “Dis is da-ric-a-less!”  Another Aaron-ism that I am sure my family will quote forever!  Thankfully getting our boarding passes was much easier, and with plenty of time before our flight left, the big kids and I went to get Subway while Matt was at the gate with Isaac.  Aaron caused quite the scene over the chips to get with our combo before we finally walked down a few gates to Starbucks to grab a coffee for Matt.  They apparently had to grow the beans while we stood there, and at one point during the wait, I glanced down to see Aaron’s pants and underwear around his knees.  I have no earthy idea what he was doing, but thankfully, there was no peeing involved.  Isaac slept the first half of the flight home, and Aaron slept the last half.  When we had to wake him up to get off the plane, he went into full melt down mode and cried for 20 minutes asking for a banana.  Not sure what that was about, but he settled for a Sonic cheeseburger once we finally got in our car and headed home.

Our children are already asking when we can go back, and Matt and I are avoiding that question like the plague because we are fearing our family trip to Orlando next July to the Galactosemia Conference.  Disney World in July with a 5, 3, and 2 year old.  Yes, we apparently have a death wish, but you may all begin praying for that now.  Please.  Or you could choose to come and watch our circus go on the road.  🙂

Next stop crazy, indeed

7 Aug

I haven’t written in a while because frankly, other than a few one liners that I put up on Facebook on any given day, my life has been terribly unentertaining.  I just feel so crazy most days.  In fact, earlier today the thought occurred to me that I could put out an ad that reads: “Students, need community service for your resume?  Opportunity available to help a mentally unstable woman with everyday tasks.”

Part of my stress could be that I am in what may prove to be the most hectic/stressful week I will have for years.  I worked today; tomorrow is Norah’s birthday, and we take her to meet her Kindergarten teacher; Thursday is Norah’s first day of school and I have my own teacher inservice day plus I have to pack; Friday morning we are flying to Dallas; Saturday is my brother’s wedding in which I am the matron of honor, Norah is the flower girl, and both boys are ring bearers.  (Aaron is pulling Isaac down the aisle in a wagon.  The pessimist in me (or maybe just the realist) keeps envisioning an old western movie with a run away horse dragging a stage coach behind it.)  So, yeah, not much happening this week at all.  And, just for fun, Norah had a stomach virus yesterday, and Matt has been feeling pretty iffy today.  I can just see us loading the plane on Friday morning and one of the boys barfing on the gangway.  I feel like it is quite possible that we may be banned from air travel by the time this is all over.