Sunday, December 23, 2012

Second Hospitalization - A little scary


LB caught another stomach bug.  He had a couple messy diapers for both us and the sitter on Tuesday, but he was happy and eating just fine (26 ounces of formula, plus three meals of solid food and a nice bedtime snack).  As I was rocking him back to sleep very early on Wednesday morning, he had a diaper blowout that required both of us to change our clothes, so we kept him home on Wednesday to keep an eye on him. Once again, he was his usual happy self and eating just fine (28.5 ounces of formula, plus three meals of solid food and a nice bedtime snack). 

Thursday morning, he had three messy diapers before breakfast so he once again stayed home with me.  Although he was still happy and eating just fine, he was getting a little bit upset about the nasty diaper rash he was developing. I was getting a bit concerned about the volume of diarrhea he was having because it was to the point that I could barely throw the diaper outside in the trash and get my hands washed before we were changing another one.  By the afternoon, I called his specialists at the metabolic clinic to see what we should do.  The last time this happened, he had messy diapers, but he was also not eating. He was eating just fine this time, so I wasn't quite sure what to do.

After hearing our saga, the doctor immediately said that LB was too young to be losing that much fluid.  She wanted him to have lab work done immediately to check his levels and the only place we could go at that time of day (5 p.m.) was to the emergency room.  She asked where we were going so she could call ahead and warn them that we were coming.  I packed the diaper bag with lots of formula, wipes, bottles and our special can of polycose (sugar solution) and our prescription of carnitine that has been waiting in our cupboard for use when little brother is sick and headed for the ER.

When we arrived, they were waiting for us and we were ushered back into a room quickly.  The pediatrician who saw us had already talked to the metabolic specialist and had ordered his needed labs and IV fluids.  She said she was surprised that LB looked so good.  She had expected him to be lethargic and dehydrated, but here he was laughing at her, drooling and trying his darndest to wiggle out of my arms so that he could explore our new surroundings.  Things seemed to be going well, although she warned us that we likely wouldn't be going home right away since the metabolic doctor had advised her that we should be admitted for observation and fluids.

Things started to get worse when they came to start his IV.  It was a team of two nurses.  One nurse tried the inside of his left elbow with no luck.  The other one tried the inside of the right elbow, again with no luck.  Then, the first nurse said she would go get another nurse.  The third nurse I recognized as the one who was able to get his IV in on the first try the last time we were in the ER, so I felt confident that this would be accomplished quickly.  I was wrong.  She tried his left elbow and his left hand with no luck either.  We were up to five pokes and there was a bag of IV fluid that he needed sitting right there on the counter.  I was beyond frustrated that they couldn't find a single vein.

A little time passed and Husband arrived to be my emotional support since our older son was now asleep with the neighbor watching him.  They called down two nurses from the floor, one from the PICU and one from the NICU.  They tried to get veins in his ankles on each foot without success either.  We were told that babies this age were hard in the first place because of the layer of baby fat they have.  LB was extra hard because he was dehydrated and that made it even more difficult to find a vein.  We were now at seven pokes.  Still no IV.

Fortunately, he was still drinking just fine, so the pediatrician in the ER called the metabolic physician and asked if we could attempt to have him maintain on his own orally.  She agreed and gave us instructions for mixing his polycose and carnitine with pedialyte.  He needed to drink a minimum of 2 ounces every hour and that he did.  Once the 8 tablespoons of polycose was added to four ounces of pedialyte, we had 5 ounces of liquid that he happily downed every time a bottle of it was presented to him.  I'm sure it was like drinking a pixie stick.  I was worried that he would never drink formula again by comparison.  We were admitted to the pediatric unit shortly after midnight and I spent the night sleeping on the hospital couch with LB and waking every 2 hours to feed him his sugar solution.

By the morning, his diarrhea still had not subsided and his labs looked bad.  Really bad.  The physician on the floor said that even if she didn't know he had MCADD, his labs indicated that he needed IV fluids.  He was losing more fluid than he was taking in and at the rate of loss (3 diaper explosions per hour at a minimum), there was no way he could make up that ground just by drinking.  Even an adult couldn't do it.  They needed to get an IV in.  So, they called in some more nurses from the PICU, each of whom poked him once and neither of them got the IV in either.  We were up to nine pokes now and I was practically hysterical.  I couldn't stand to see anyone else dig around under his skin for  vein while he wailed in pain.  I knew he needed the IV.  I knew they were just trying to help him, but it was still so hard to watch.  I hated seeing him hurting. 

The doctor said it was time to start thinking about plan b -- possibly a central line or possibly a pic line -- because he needed those fluids badly and the longer we waited, the worse it was going to get.  Now, I was really scared.  It was hard enough to watch the IV attempts.  Now, they were talking about sedating him and taking him to the OR?  And the scariest part was that no one was telling me reassuring things like "he'll be ok" or "he's still doing fine."  The conversations with the nurses and the doctors all said one thing -- "he needs IV fluids fast" -- yet no one seemed to be able to help him.

At this point, LB was exhausted and had fallen asleep in my arms.  The doctor said to let him rest for a bit.  They would try one more time for a peripheral vein with their very best person and that they would do everything they could to stack the deck in his favor (warming his hands and feet with warming pads, taking him to the procedure room on the floor where the light was best, looking at all the options for veins before taking the very best option).  If it didn't work this time, we were going to get serious and head to the OR.

The entire time LB was napping in my arms, I was praying.  I was sobbing and I was praying.  I called/texted/facebooked everyone could think of and asked them to pray for LB.  I needed some divine intervention in the form of someone who could get an IV in him.  I didn't want to see him go through a procedure like a central line.  I needed to see that bag of IV fluids that had traveled with us from the ER to the floor doing him some good.  I needed to know that he was going to be ok.

Shortly after noon, his nurse came in and said it was time.  I took a deep breath and carried him down the hall to the procedure room where we met Heidi, the nurse from the NICU who was our last hope.  She looked closely at all the options she had to place the IV before deciding on his left foot.  I laid him down on the table and held him securely while singing a song softly into his ear.  I couldn't watch again.  He cried and I sang to him.  After a while, I heard Heidi ask if she should draw the labs, too.  I looked up and asked if the IV was in.  Heidi smiled and said she had gotten it on the first try.  I was so happy that I started weeping.  He was finally going to be ok.  He was finally going to get the fluids that he needed.  Our prayers had been answered. 

We returned to our room and set about letting the IV fluids work their magic.  They wanted at least 12 hours of fluids, so we would need to spend another night in the hospital.  They also wanted to give his intestines a break, so they switched him to a special lactose-free formula.  They said I could feed him as often as he was hungry, but only 2 ounces at a time and to try and space the feedings at least 30 minutes apart so we weren't overwhelming his system with large quantities of liquid that would inevitably just go right through him. 

It was hard to keep him happy with only 2 ounces at a time, especially because I was also preventing him from practically all physical activity to protect that IV site from any damage.  I had a stir-crazy baby who hadn't been allowed to crawl, cruise or walk since Thursday afternoon or inspect the contraption wrapped around his left foot, despite the fact that he was being fed pure sugar for 24 hours before being switched to intravenous sugar that afternoon.  Let me just say, it was an interesting stretch of time.  Thankfully, Husband brought us a nice assortment of books and toys and the floor had a highchair that they had brought to our room.  It ended up being a rotation of me singing songs to him while holding/bouncing him around the room, followed by a stretch of sitting in my lap reading books, followed by sitting in the highchair playing with toys, followed by a bottle and sometimes a nap.  We did whatever kept him happy and prevented him from pulling at his IV and it worked.

By Saturday morning, his diarrhea had subsided and his labs were looking much better.  His sugar numbers were normal.  His acid numbers were normal.  His salt numbers were high though so they disconnected the IV since he was probably getting too much salt through the combination of IV and liquid intake by mouth.  We were told that they would repeat the labs that evening and probably send us home if he continued to feed well, continued to have normal stools and had good lab results at the end of the day.  We counted the minutes until the labs were drawn and were ecstatic when the results came back normal.  We were going home!  Three days before Christmas, we were headed home!

That night, as Husband and I tucked our boys, safe and warm, into their very own beds, under our roof, we were profoundly grateful.  While LB and I were in the hospital, our older son was home with Husband suffering from a similar stomach bug.  In all, the last few days in our lives were not pretty -- hospitals, a crying baby getting poked for IVs and blood work, dirty diapers, vomit, you name it -- but even if we only ate toast on Christmas and even if no one in the house felt well enough to change out of their pajamas, it was going to be just fine because we were going to all be home together.  I didn't need anything else for Christmas, just the ability to be home with my boys.  My Christmas wish had already come true.

Thursday, December 13, 2012

2013 Consumer Task Force on Newborn Screening

I am very excited to announce that I have been selected to serve on a national task force on newborn screening! I applied at the end of October and found out last week that I was picked. I get to spend the next year learning more about newborn screening and developing a project to expand information and awareness about the newborn screening system. Most importantly, I get to travel to Washington, DC in May to talk to the Secretary of Health and Human Services Advisory Panel on Heritable Disorders in Newborns and Children to advocate for the infant screening system. What an honor! I hope that my participation helps other families in our situation.

Friday, December 7, 2012

Nine Months


And, here we are!  Nine months later.  The fun is only just beginning! 

Climbing is his new favorite pasttime.  He climbs entire flights of stairs with ease.  He has moved on to improvising stairs out of common household objects.  For example, he used the toybox as a stepladder to get himself onto the coffee table.  He used the Christmas decoration boxes as a stepladder to get his hands up onto the kitchen counter.  If it even remotely resembles stairs, he will climb them.

He figured out how to clap on command. When you say "hooray!", he claps with gusto in response. He also sometimes claps for Daddy when he does football signals for him. Touchdown and illegal procedure are especially worthy of applause (and laughing).

He really enjoys chasing his big brother around, or if this brother isn't around, he also likes to torment the dog.  She continues to be a great sport as he sits and jingles the tags on her collar or uses her collar as a way to pull himself to standing.

He's still very much into things that roll -- balls, cars, etc.  We can spend quite a long time racing cars across the kitchen floor and rolling balls down the treadmill while LB laughs and laughs. 

We've moved onto eating a lot of finger foods.  He likes noodles and all types of canned fruits, plus steamed veggies, Saturday morning oatmeal pancakes and, of course, Cheerios and Puffs.  He gets three meals a day of solids now, plus a bedtime snack and around 24 ounces of formula.

Sleeping might be getting a little better.  We re-discovered that he has a white-noise toy and the sound of falling rain as we lay him down in his crib seems to help him settle into comfortable slumber.  He realizes that he's been tricked into sleeping in his own bed a few hours later, but at least I'm getting to lay down in my own bed for a few hours a night now (up from about 15 minutes per night, so that's definitely progress).

We saw the pediatrician today and here are his stats:
  • Height - 29 inches (75th percentile)
  • Weight - 18 lbs, 7 oz (30th percentile)
  • Head - 17.25 inches (17th percentile)
We opened up the 12 month clothing bin (his big brother's hand-me-downs) and it was all shorts and t-shirts, so it looks like he's going to luck out and get himself a new wardrobe again in this size.   One day, I'll open the hand-me-down bin and actually find things that are in season!!

Oh, and we went and got him his first pair of shoes.  Size 3.5 Wide.  Isn't he snazzy?



Saturday, November 10, 2012

Eight Months


Eight months is a very mischevious stage...
We like to take books and toys off the shelf (and toilet paper off the roll).
We do lots of exploring in the kitchen.  My tupperware drawer is strewn all over the floor in the background and he is sitting in the oven drawer.
He "helps" with all household chores.  His favorites include vacuuming, loading/unloading the dishwasher and being carried around in the laundry basket while I do the laundry.

He is a champion at pulling himself up to stand and cruising around the house holding onto the walls and furniture.

We've reached the stage in his development where we put him down and within 3 seconds, he is getting into something -- the dog food, the toilet paper roll, pulling things out of the drawers or the pantry, trying to "help" his big brother use the potty, etc.  He is a speedy little one, that's for sure!

He loves following his big brother around and the dog, too.  She is a great sport as he uses her collar to pull himself to standing.  We really couldn't ask for a better dog.

His favorite toys are anything that rolls.  We have some great pull-back racecars that he thinks are funny, and a cute dumptruck with three balls that rattle when you shake them.  He likes to roll the balls down the incline of our treadmill and he has no fear whatsoever as he crawls up and down the treadmill (while it's turned off, of course) chasing them.

He's still a great eater and is usually eating around 30 ounces a day, plus 3 meals of solid foods (baby food at lunch and dinner and cheerios at breakfast).  We are also doing a bedtime snack of Cheerios and it's working out nicely because we are using the Cheerios Fun Book as a bedtime story.  We read the story and he munches the cheerios that serve as wheels on the car, buttons on the pajamas, etc.

We still don't have any relief on the sleep front yet, but I'm hoping it is soon. Maybe we just need to give those antacids more time to work.

Thursday, November 8, 2012

Reflux

We are now giving LB baby antacids that are allowing him to eat and sleep more comfortably at night. He was having real trouble eating and sleeping after his hospitalization for the stomach bug. I was wondering if it was teething again or if it was becoming behavioral for him to want me to hold and rock him all night long, but when he started the ear-splitting shrieking everytime I tried to put a bottle in his mouth or attempted to lay him down, I got concerned.

A trip to the pediatrician revealed that he likely has a bit of acid reflux as a residual side-effect from the stomach bug. Basically, his pediatrician thinks his whole GI tract was inflamed by the virus and is still trying to recover. All babies have reflux to some extent, but our baby probably just needs a few weeks of antacid treatment to get his tummy back to normal. Day one of the antacids and he had the best night of sleep he's had in weeks! That was on Saturday and it's gotten slightly better each night. Let's hope it continues and we can get off the antacids next week (it is rather challenging to get him to swallow two different medications three times daily...he has already taken this opportunity to learn how to blow raspberries at me so I am usually covered in sticky beads of medicine).

Thursday, November 1, 2012

Metabolic Appointment

We had an appointment scheduled with LB's specialists at Children's Hospital for the last week of October. It had been on the calendar since August, but it just so happened that it ended up being the day after he was released from the hospital, so the timing was pretty good.

We talked to his doctors briefly about his recent illness and how things were going (very well, by the way). They assured us that whenever he isn't feeling well and not eating, the safest thing to do is to give him IV fluids. His weight was down a bit (16 lbs, 8 oz) from where it normally is in the 50th percentile, but they said it was likely due to the illness and that they would expect him to make up for lost ground rather quickly.

The real purpose of the appointment was to get our next set of feeding instructions for him. Up until this point, we had been feeding him every 3-4 hours throughout the day (sometimes forcing him to eat if we looked at the clock and felt it had been too long) and giving him one longer 6-hour stretch of sleep at night before setting the alarm to wake and feed him. Based on his weight of almost 8 kg, we could now let him sleep for 8 hours at night and they told us that we should start treating him more like a "normal" kid during the day (i.e. feed him when he's hungry, not based on the clock). The goal by the time he is a year old is for him to eat like any other kid during the day (breakfast, snack, lunch, snack and dinner) with the addition of a hearty bedtime snack and for him to be able to sleep for 12 hour stretches at night.

Although that sounds simple, it will definitely be a mindset shift for us. I feel like we'll always be looking at our watches and trying to keep track of when and how much he's eating just because we know that he needs to eat consistently in order to stay healthy.

The 8 hour stretch at night will also probably be tough at first. He hasn't been a great sleeper at all lately with the whole teething thing, then the illness, then the hospitalization. Add to that our forced middle of the night wakings that we've been doing his whole life and I'm starting to wonder if we're conditioning him to wake and eat throughout the night instead of conditioning him to sleep for progressively longer stetches on his own. I know that lately I spend more of my nights in the rocking chair in our nursery than in my own bed. I don't say that because I'm complaining. I just say it because it is fact. I don't mind it one bit. From the day that we found out about his MCADD, I feel like it is a privilege to wake him and hold him in the middle of the night as I feed him. We are so very lucky to have him and so very lucky that the hardest thing we have to do to keep him safe is set an alarm and feed him every few hours at night. There are plenty of kids who require far bigger health interventions than he does and I never lose sight of how fortunate we are that 1) we know he has MCADD, 2) we know how to keep him safe and 3) that we have him in our lives at all. Before newborn screening, kids with this deficiency were in grave danger because they were outwardly healthy and there was no way to know about this problem until it was too late. In any event, sleeping for 8 hours sounds great, it's just going to be a bit of training for ourselves and for him to get to that point.

So, the visit went well. The doctors are very pleased with how well he is doing and how well he is recovering from his illness. We go back to see them when he is a year old!

Saturday, October 20, 2012

Our First Hospitalization

We have had a bit of a rough week...

LB has been cutting his first teeth. This has made him fussy and cranky, especially at night. He has also had some seriously messy diapers (a teething side effect that I remember from our older son, too). It also started to affect his food intake, which with his MCADD is very bad. We were on the verge of calling his specialists at Children's Hospital on Friday night because his intake was down about a third from where it normally is, plus those awful messy diapers. Thankfully, at 2 a.m. when we were contemplating the call, he magically sucked down a full bottle and we thought things were getting better.

On Saturday, his second tooth appeared and he seemed happier. He was having hourly diaper blowouts, but was eating just fine (slightly less than normal, but nowhere near a third less than normal where we start getting concerned) and playing happily. Then, by the end of the day, he was very mad. The diaper issues had caused some pretty angry diaper rash and his tummy was very hard. I could tell he was uncomfortable, so we called the pediatrician who suggested we switch him to the "gentle" version of his formula to help with the gassiness and do some baking soda baths along with a seriously thick coating of diaper rash cream to make him more comfotrable. A quick run to the store before bedtime for the necessary supplies and we were on our way to feeling good again.

On Sunday, the rash was much improved, the diaper messiness had subsided considerably (2 blow outs for the entire day instead of 8!), and his food intake was up a couple ounces from the day before. We definitely thought we were out of the woods.

On Monday, we took the boys to the sitter, but picked them up an hour and a half early so we could take them to the flu shot clinic at the pediatrician's office. Usually when I pick up the boys, their sitter proudly tells me that LB ate 12 ounces and had a great day (she considers it her personal mission to feed the child at least 12 ounces regardless if he's hungry of not...did I mention she is a grandmother? =). Our regular sitter was actually out of town, so her friend was substituting for her for the day. When she came to the door, she looked worried and LB looked terrible -- he had red circles around his eyes and wasn't as happy and smiley as he normally is when I pick him up. She said he didn't have a great day, kept turning away from the bottle on her and had been having messy diapers again. She said he had only eaten 5.5 ounces while he was there.

It was as if someone sucked the air out of my lungs. I rationalized that it was probably just because she was an unfamiliar face and he didn't want to take the bottle from her (even though she is a Grandma of 15 and has plenty of experience with babies!). I made a bottle for him in the car and as soon as we got to the pediatrician, he ate all 4 ounces for me. Both boys got their flu vaccinations and as we were leaving, I asked if our pediatrician was in the office today. The receptionist said he wasn't so I just left it at that. He had eaten, so he was probably ok.

On the way home, I started adding up all the messy diapers, the decreased formula intake and the telling red circles around LB's eyes. My gut told me we needed to call his specialists, just to be sure he didn't need to start on his special sugar-solution formula for a little boost while he was getting over this teething thing (or was it a stomach bug now? how could you tell?).  Husband agreed with me, so we called them as soon as we got home.

We reached our genetic counselor first, told her what was happening and she said she would talk to the doctor and get right back to us with a plan for what we should do. The phone rang not five minutes later. She said the doctor was concerned and that we should go to the ER. LB was probably getting dehydrated from all the diarrhea and the decreased food intake wasn't helping. She said he would probably just need to be on some IV fluids for a few hours and they might be able to send us home again.

I gathered a supply of diapers and formula, called a friend to stay with the little man and headed for the ER. Our friend couldn't get to the house right away, so Husband could meet me at the ER after she arrived to play with our older son for the evening. The ER experience wasn't the best, but wasn't the worst either. Our emergency letter that was supposed to get us to the front of the line and into a room with an IV running as quickly as possible didn't quite work out as expected. The guy at the desk and the triage nurse both refused to look at it, instead telling me to show it to the doctor once we were in our room. We were sitting in a curtained room within about 20 minutes (which isn't too bad) and saw the doctor almost immediately thereafter. She looked at LB, read his letter and ordered his special dextrose IV fluid (liquid sugar) along with some lab work. The doctor told me he was slightly dehydrated and that after running fluid for a few hours, he'd probably be able to go home. The unfortunate thing was that the IV fluid didn't arrive until TWO HOURS after we had arrived at the ER. It was a good thing he was only slightly dehydrated. Things could have gotten really dangerous if he was really in metabolic crisis and his IV was slightly delayed by two hours!

LB was a real trooper in the ER. He snuggled with me and took a couple nice naps. He was slightly annoyed by the IV because they had to put it in the crook of his arm (the best vein they could find) and placing it there meant that they needed to strap his arm to a little board to keep it straight. His overwhelming desire to suck on that particular hand got the best of him from time to time and he would get mad, but I was usually able to quickly distract him with a toy or a lullaby. All of his labs came back within normal range, so the ER doc assured us that this treatment would really give him the boost he needed to get well.

Things were going fine and after a couple hours of IV fluids, he was already looking much more alert, with the circles around his eyes disappearing, BUT he still wasn't very interested in eating and then he had this wildly impressive diaper explosion (that we were happy to have happen in the ER instead of in our house where we would have had to clean it up). At that point, they said they were admitting us for the night.

We got to our room around 10:30 p.m. Most of the other kids on the floor must have already been sleeping for the night because the nurses were focused exclusively on us for the next couple hours. I filled out a bunch more paperwork, they set us up with a stockpile of diapers, wipes, blankets, formula and toys. They also asked me if I was hungry, which I was (I had the foresight to pack a PB&J, but had been at the hospital since 4:00 p.m. with only that sandwich to eat since lunchtime), so they brought me a deli sandwich, some fruit and a bag of potato chips which I happily gobbled up.

We slept curled up on the pullout couch since LB wasn't happy in the hospital crib and by sleeping on the couch with me, I could help keep his arm straight so that the IV could continue to flow unobstructed (he could bend his arm slightly even with the arm board, so everytime he did, his IV would stop flowing and start beeping). It was a restless night of sleep for me, but LB slept rather peacefully despite all the nursing checks every half hour or so. He woke up bright eyed and bushy tailed at around 5:30 a.m. and he was literally a brand new kid -- alert, happy, playing, drooling, flirting with the nurses. It was amazing to see the difference from the night before.

Once he was awake, the IV beeping became incessant as he kept trying to use his arm so the nurses made the executive decision to disconnect it. The doctor came in to see us and said that his morning labwork had shown improvements from the night before (he referred to his numbers as "stone cold normal" now) and as long as he ate well and didn't have any more diaper explosions, we could go home after lunch. We stuck to that plan, LB happily drank his bottles as well as munching some cheerios and applesauce (photo below) and sure enough, were headed home around 1 p.m. -- hooray!


I took a little nap that afternoon while Husband watched LB. By the time it was time to go pick up his big brother from the sitter, I felt like our life was pretty much back to normal.

LB was acting fine again on Wednesday, but I didn't want to send him back to the sitter quite yet -- I needed to keep him in my sight until I was absolutely sure he was ok. It was a good thing I did because the messy diapers returned after his morning nap, so we followed up with a visit to the pediatrician who told us that the stomach bug that is going around typically lasts for 10-14 days. The dirty diapers would last a little while longer, but as long as his food intake stayed up, his labs from the hospital indicated that he was getting enough nutrients from his formula (before it was violently expelled from the other end) that he would likely not have to go back to the hospital. His advice was good and the diapers gradually returned to normal over the next couple days. His food intake continued to gain ground until we were back to normal by the weekend. What a relief!

So, our first hospitalization turned out fine. I sure would rather have not had to take him there, but the blessing of his diagnosis is that we know that we have to catch things like this early and act aggressively to prevent him from getting sicker. That's exactly what we did and he bounced back extraordinarily quickly. Honestly, the whole experience was probably harder on his Mommy than it was on him! 

Saturday, October 6, 2012

Seven Months


Well, here we are again, another month later and a baby who just keeps growing and growing!  I swear that he is going through all these milestones WAY TOO FAST!  He has the incentive of wanting to keep up with his big brother, so he's hitting the milestones much earlier than the little man did -- sometimes a full 3 months before him!

He is a pro at crawling and can get wherever he wants to go very quickly.  I love how babies crawl toward things that they are excited about -- panting and giggling and slapping their hands on the floor as they go.  LB gets very excited about crawling toward the dog food dish and our master bedroom shower.  Whenever he is on the floor in the vicinity of those two locations, the giggling  sets in and he is soon plunging his little fists into kibble (we always catch him before he attempts to eat any) or squealing with delight in the shower as he listens to his echo.

In other movement-related milestones, he is also pulling up.  He pulls up on practically all pieces of furniture, his toys, his parents and even his bathtub.  Sometimes while he is standing next to something, he is also reaching for toys and he forgets to hang on.  He isn't exactly standing by himself yet, but he isn't exactly holding on for dear life either.


He has continued to be an excellent eater and has now taste-tested just about every flavor in the baby food aisle.  He is also starting to get the hang of some finger foods and he happily attacks puffs and cheerios with gusto whenever he is in his highchair.  He's even starting to get the hang of using his hair as a napkin (I wonder if his big brother taught him that?).

The only slight hiccup that we have run into is that his sleeping has suddenly become very poor.  He had a bit of a cold the last week of September, so the congestion was keeping him awake.  I spent many nights sitting up with him in the rocking chair so that the elevation of his head could keep the congestion at bay, but once the cold cleared up, he continued to want me to sit with him all night every night.  While I love nothing more than holding a sleeping baby and I still feel so thankful for LB that I hardly bat an eye at any of his nighttime needs (food or snuggling), I know that he needs to be able to sleep on his own, too.  I do not subscribe to the "cry it out" method, so there have been many nights with minimal sleep for me.  I was just starting to worry about his newfound night restlessness when I realized what was happening.  He was getting teeth.  I got a glimpse of his bottom gums and sure enough there is an outline of two tiny teeth on the bottom.  I expect they will pop through any day now.  In the meantime, Tylenol has been helping, as has the knowledge that this is likely only a small bump in his usually peaceful sleeping.

He has many vocalizations now, including something that sounds like DaDaDa and lots of consonant sounds.  He squeals with greater inflection than ever and enjoys babbling with me and with the dog believe it or not (she is a very patient audience because he is usually grabbing great handfuls of fur as he "talks" to her and she doesn't mind one bit -- she is SUCH a good and gentle dog).

Although that toothless smile will soon be a thing of the past, I am still madly in love with his baby grin.  What a fun and happy baby he is!



Saturday, September 15, 2012

Six Months



I can't believe it!  Our little boy is already half a year old! Where does the time go?

We went for his 6 month appointment yesterday and he is still doing great.  Developmentally, he's right where he should be, a little ahead, in fact.  For height and weight, he's still lingering in the middle of the pack.  He was 16 lbs, 10.5 oz (45th percentile), 26 3/4 inches tall (50th percentile) and his head circumference was 17 inches (50th percentile).  He jabbered away to the doctor all through the appointment along with trying to eat his stethoscope.  The only minor concern we had for the appointment was that he's had red eyes and a runny nose for a few days.  We were wondering if he had a cold, but the doc suspects it is seasonal allergies.  He told us we could give him 2 mL of Benadryl if the stuffiness is affecting his eating or sleeping.  Considering he has been waking every 40 minutes for the last week, we jumped on the opportunity to give him some Benadryl last night (everyone needed a more restful night of sleep) and he had his first full night of sleep since vacation, save for the 2 a.m. feeding we have to set the alarm clock for.

We were a little nervous about all the vaccinations (he was so mad after his 4 month appointment that he stopped eating to within an ounce of the point that we need to take him to the hospital), but he seems to have done fine this time around.  He even got a flu shot on top of all the other shots and he was still just fine.  Thank goodness!

He is officially crawling.  It started about 3 weeks ago with some partial army crawling, partial frog hopping, partial belly off the ground crawling.  It wasn't pretty, but it got him where he wanted to go with a great deal of effort.  As soon as we returned from vacation (4 days after he turned 6 months old), he had put things together into a respectable crawl -- look out world!

He can sit on his own for long stretches of time.  He's still trying to master getting from sitting to crawling, but he's getting better at it.  While we were on vacation, he tipped forward from sitting to reach for a toy and he forgot to catch himself.  His poor little face hit the hardwood floor and he cried and cried.  By the time he lifted his head from the safe comfort of my shoulder as I comforted him, there was a little trail of blood running from his nostril.  His first bloody nose.  =(  He went right back to playing after a little snuggling with Mommy, but he does seem to be being more careful when he tips forward -- thank goodness!

He's doing very well with eating.  He still takes about 32 ounces of formula per day, but it's starting to be in more 6 oz servings instead of all in 4 oz servings.  He always takes 6 ounces at bedtime, in the middle of the night and first thing in the morning.  He's taking in quite a bit of solid food at dinner, too.  He eats sweet potatoes, squash, apples, bananas and peas (he LOVES peas).  Sometimes, he'll finish an entire container in one meal, but most of the time, he only eats about half.  He also gets a few banana puffs at breakfast (mainly just to keep him busy while we eat), but although he can pick them up, he doesn't seem to want to put them in his mouth.  His older brother tried helping him the other day ("Open wide!"), but the puffs that made it into his mouth that night must not have made much of an impression on his palate because he's still not interested in putting them in his mouth.  He picks them up and throws them off his tray, much to the dog's delight.

He still loves watching his big brother and is fascinated by his red crocs shoes.  Whenever he sees them, he crawls with all his might to touch them.  He also likes his brother's trains and matchbox cars.  He also still spends a lot of time thoughtfully contemplating his opposable thumbs.  He can literally sit and stare at his fist opening and closing, and his thumb appearing and disappearing for 5 minutes at a stretch.

He's starting to be very roly poly on the changing table.  It's sometimes a miracle we can even get a diaper on him as he's tossing and turning and flipping.  He's just too busy sometimes to pause for diaper changes.

He's starting to add more vowel sounds to his babbling.  We get lots of "ahhs" and "eeeees" along with lots of happy squealing and belly laughs, but I'm also staring to hear some D sounds, which probably means this will be our second baby who says Daddy first =)

He still takes the title of the world's best baby.  He is a great sleeper, a great eater, he plays quietly and happily and he is the sweetest little snuggler.  We really are the luckiest parents to have such a good baby.  I love this little munchkin SO much!



Wednesday, August 15, 2012

Five Months

Taken a few days late this month, but here he is, our cute-as-a-button five month old boy!

He enjoys sucking on his toes, playing with his toys and watching everything his big brother does.  He is trying very hard to be mobile and has mastered the art of sequential rolling (he literally rolled from one side of the basement to the other, squealing the whole way the night we got home from our big road trip...I think he was happy to have some space to move around). 
He is starting to want to sleep on his side at night.  I'll put him in his jammies and his sleep sack, feed him his final bottle of the night and substitute a pacifier for his bottle once he takes the last drink.  As soon as I lay him in his crib, he spits out the pacifier, rolls onto his side, grabs a handful of sleepsack and stuffs it in his mouth.  He lulls himself to sleep by sucking on his sleep sack.  It is pretty cute.  Sometimes, he'll roll all the way over onto his belly and get upset, so I'll have to go flip him back over (he can do it himself, but I think he just gets so upset that he's no longer sucking on his jammies that he forgets to roll back over and just cries for me instead).  Once I return him to his back, he immediately rolls back onto his side and resumes sucking on his sleep sack.
He's pretty enthusiastic about his jumper lately, too.  He often jumps and squeals while I cook dinner or while I'm chasing after the little man.  Sometimes, he jumps as we're holding him.  It seems like his little legs and feet are constantly kicking and moving.  I also don't think it will be long before he starts crawling. He can push himself up on his forearms very well and has even started to get rugburn on his toes from kicking his legs so much into the carpet trying in vain to propel himself forward. He is so eager to keep up with the little man, you can just sense his determination.
He's starting to get some good torso strength and has been able to do some supported sitting. He tries to sit on his own, but he still has to use his arm to tripod himself upright and we need to stay close because he is quite tipsy.  It won't be long, though.
He has great facial expressions and he still gives us the pouty lip, Mr. Grumpy Face look from time to time, which is so so cute.  He also has an adorable sour face expression that he reserves for when i'm attempting to feed him rice cereal (he's NOT a fan).  Most of the time, we get smiles, though.  He still takes the prize as the world's best baby -- so happy, so agreeable, so snuggly.  He is a breeze to put to sleep and uber-cooperative as we wake him in the middle of the night to feed him.
He's wearing size 3 diapers now (we had several blowouts on our road trip and decided it was time to move up a size) and is still in the 3-6 month clothing, but is starting to reach the limits on some of the outfits. It won't be long before we're digging into the 6-9 month bin. 
His list of states visited has grown exponentially recently.  He now has Colorado, Michigan, Kansas, Missouri, Illinois, Ohio and Nebraska -- not bad for only being 5 months old!
It's hard to believe he has already grown and developed so much.  Time certainly does fly!

Monday, July 16, 2012

4 Month Immunizations & 1 Mad Baby

We had a bit of a scare with LB this weekend. He went for his 4 month check-up on Friday and all was well, but AFTER he came home from the doctor, he wasn't quite himself. He was mad and crying (he's usually super happy and he hardly ever cries unless he's hungry or needs a new diaper). We suspected he was a bit fussy from the shots, so we gave him some Tylenol, but that didn't help either. He also started coughing and his nose started running. He was so mad that he would barely eat anything.

We weren't sure if the coughing and stuffiness was from all the crying or if he might have picked up a virus while he was at the peditrician, but the fact that he was barely eating was really concerning. Our instructions from the metabolic clinic are that if he eats 1/3 less than he normally does (they call this "the rule of thirds"), it is cause for concern and we should give them a call. All weekend long, we were practically force feeding the poor kid and he was within an ounce or two of the rule of thirds. I got nervous and called the clinic on Saturday night. They reassured me that he would be ok as long as he didn't drop below 20 ounces for the day (he normally eats 30-32 ounces). They also suspected the shots combined with a possible cold were to blame. We kept him dosed with Tylenol and reverted to our routine of waking him every 3-4 hours during the night instead of every 6, just to make sure he had enough nutrition in his system.

We had a couple of tough nights, but by today, he was right back on schedule. It's amazing how quickly kids bounce back from illnesses.

Friday, July 13, 2012

Four Months


Here is our smiley, happy guy at four months old!  Already one third of a year, so hard to believe.

We went to his four month appointment today and he is still doing great.  Developmentally, he's a little ahead and size-wize, he's making great strides.  He was 14 lbs 15 oz (50th percentile) and 25 inches tall (also 50th percentile), so he is catching up from his days in the 10th percentile.  Unfortunately, he got 4 vaccinations today, three injections and a liquid that he didn't enjoy drinking, so he was a bit unhappy, but we're glad that he continues to be strong and healthy!

Saturday, June 23, 2012

Metabolic Appointment

We visited the metabolic clinic again this week.  This was LB's second appointment with them.  We did the usual things -- height and weight, a visit with the genetic counselor and a visit with the metabolic doctor, followed by a trip to the lab for some blood work.  In general, things are going really well.  He's growing and developing right on schedule and his weight of 6 kg means that we can let him sleep for 6 hours at night before waking him to feed him.  We'll have to keep to that schedule until our next appointment in October.

A couple new things that we learned at this appointment...
  • Sometimes, kids with MCADD need a supplement of levo-carnitine.  Carnitine is a substance that removes toxins from your body.  Since people with MCADD can't break down medium-chain fats, their body treats those fats like toxins and uses carnitine to get rid them.  The problem is that they also need enough carnitine to get rid of the other, normal toxins in their body (don't know exactly what those are since I'm not medically trained, but anything that a normal person's body would use carnitine to get rid of).  If a person with MCADD can't make enough carnitine to take care of the normal toxins, plus the added fat toxins, an oral supplement of levo-carnitine is prescribed.  The oral carnitine can also be used in conjunction with polycose when a person with MCADD is ill (presumably to take additional stress off their system).  We were sent home with a prescription for carnitine and he has bloodwork done at every appointment that monitors his carnitine levels.  They told us that it's unusual for a child as young as LB to need carnitine supplementation, but that testing him regularly helps them establish a baseline.  They don't expect that we'll need to give him a daily dose of carnitine, but they want us to have it in our cupboard in case he ever needs it when he's ill.  Here's what it looks like...
  • They can do DNA sequencing to determine which specific gene in LB's body mutated to cause his MCADD.  A portion of the test is covered by insurance, but there are some out-of-pocket costs associated with the sequencing.  It doesn't change his treatment, but it can give us a thorough picture of which gene is responsible.  Although not necessary, we opted to have the DNA sequencing done.  We figure it might add to the knowledge base about this disorder and that can't hurt.  Plus, they already took the blood sample when he was there for his first appointment, so it doesn't involve another poke.

Friday, June 22, 2012

Three Months


Where did LB's third month go? The days sure seem to fly around here. We’re already almost at 4 months and I still haven’t given his 3 month update! Because I am so tardy, I will include all of the things he did while he was enjoying his third month.

Month 3 was eventful…
  • He now smiles, a LOT, and very socially which is tons of fun for everyone.
  • He flew on an airplane for the first time, attended his first wedding, visited his first new state and his first foreign country (he has a leg-up on his big bro on this one since it was his big brother's first venture off US soil, too).
  • He was finally convinced that his bouncy chair is entertaining. He can now kick and bounce with fervor instead of just looking forlornly for someone to come rescue him from the ergonomic, vibrating comfort of his seat (I kept telling him that adults would LOVE to have a bouncy seat like his).
  • He experimented with new types of vocalization beyond simple cooing. He can now screech, squeal, giggle and seems to be performing some early babbling – I could have sworn he said “thank you” when I retrieved his lost pacifier a few days ago.
  • He figured out how to hold onto things, his favorite objects to hold include – burp cloths (by far his favorite, he stares at any burp cloth you are holding until you actually give it to him and then he squeals as he puts it into his mouth), his ring of baby keys (I tell him they are the keys to Mommy’s heart and he smiles), his telephone rattle and his toy ball. He also really likes the grasping rings on his toy zebra and toy firefly.
  • He loves to watch his big brother and he loves to fly with his Daddy. He always keeps an eye out for Mommy, though. I’m still his favorite person to snuggle with. I’m holding onto that one for as long as I can since I know how much more fun Daddies can be for little boys who like to rough-house.
  • He has gained a lot of torso and leg strength as he can now bear weight on his legs (while we support him, of course) for quite a while. He often prefers to stand instead of sitting or being held.
  • He became mobile. He can now roll from his back to his front…and he looks pretty darn proud of himself when he does it. The pride lasts for a few minutes before he realizes that he can’t roll back onto his back and he’s not very crazy about being on his tummy – MOMMY!! HELP ME!!
  • He successfully weathered his first illness (coxsackie virus that causes hand, foot and mouth disease) without missing a beat on his feeding schedule and without needing any medical interventions -- woo-hoo! It was a mild case with only blisters on his hands and feet. The mildness of the illness was especially nice since it materialized two days before we were supposed to fly to Detroit for my brother’s wedding and we were concerned about 1) taking a sick baby on such a big trip and 2) potentially having to deal with hospitalizations in a different state. He did just fine and I feel like this gives us a little more confidence that he IS going to be a relatively normal kid.
  • His food intake grew pretty steadily. He’s now up around 32 oz per day and some of those feedings are in 6 oz increments. We’ve switched to the larger bottles and to the higher flow rate nipples in response to his growing appetite.
  • He continues to be a great sleeper and can fall asleep in practically any situation – noisy birthday parties, while hanging out on the bathmat as his big bro gets ready for bed, in the middle of a blanket while Mommy makes dinner (or dashes to prepare a bottle) and his big brother crashes around him with toys and books and other toddler antics. He can sleep for about a 6 hour stretch at night before we have to wake him, and most nights only involve one middle-of-the-night feeding.
  • He continues to gain weight and is now sporting the 3-6 month wardrobe. The idea of hand-me-downs between the boys hasn’t been so successful thus far. Despite the fact that I packed away all of our older son's clothes as he outgrew them, the fact that he was so always so big for his age and LB is more on the small-to-average size for his age combined with the November and March birthday span has made us almost exactly one season off with clothing. I opened the 3-6 month clothing bin to find it is mostly long sleeves and cozy fleece sleepers when I really need shorts and rompers for summer. Oh well, at least he got to use the 0-3 month sizes for a while.  His brother only wore them for a few weeks before he busted into the 3-6 month sizes (as a 1 month old!).

Tuesday, May 8, 2012

Two Months

LB had a big day today. It was his two-month check-up! He was 11 lbs 11.5 oz (30th percentile) and 22 inches tall (10th percentile) with a 60th percentile head measurement. I was stunned. After the our older son (who was never less than 85th percentile on any measurement at any point in his life), I didn't think it was possible for us to have a 10th percentile kid. I know I shouldn't compare them because LB is completely entitled to do his own thing, but to put this in context, our older son was 21 1/4 inches tall WHEN HE WAS BORN, so this whole 10th percentile thing is a bit shocking for me. Oh well, at least he's getting use out of those 0-3 month sizes. He's also a healthy and happy little guy who is completely on track developmentally, so that's really all that we can ask for. Very thankful for that!

He is starting to do a lot more smiling and he almost has a laugh, but it's still not time for belly laughing yet (that's one of my favorite milestones). We can tell his cries apart and the cry for "feed me Mommy!" is the most emphatic, followed closely by the cry for "you have no idea how messy my diaper is right now Mommy!" He loves looking at the toys hanging from the shelf over his changing pad and the animal mobile hanging over his crib and he sometimes cries when you take him away from those spots when he isn't ready to leave. Sleeping is one of his favorite things to do, especially when he's in Mommy's arms for a nap. He's also a champion eater and usually packs away somewhere just shy of 30 oz of formula in a day (in 3-4 oz increments about every 2 hours during the day and about every 4 hours at night). We can now set the alarm for 4.5 hours at night based on his weight of a little over 5 kg (we could probably go for 5 hours, but we are trying to remain conservative just to be on the safe side).

Here are some pics of our big (in heart) little guy...



Wednesday, April 18, 2012

Failure and Acceptance

LB turned six weeks old yesterday. As I write this, I am thawing the final serving of breastmilk that he will receive. It has already been more than two weeks since he last nursed. Despite what I believe were my best efforts, breastfeeding lasted a mere four weeks and my freezer supply only another two. Writing these words pains me. I REALLY wanted breastfeeding to work. I tried VERY hard and I failed. I'm still working on being OK with it.

We seemed to do just fine in the first few days of LB's life, but things deterioriated very quickly. The MCADD diagnosis on Day 3 with instructions to feed, feed, feed him every 2-3 hours sent us into a panic. I erred on the side of caution and had the boy at my breast every 2 hours for the next 4 days not caring the slightest bit about the quality of his latch or the condition of my body so long as he was eating. That lasted until Day 7 when my nipples were so raw and painful that I could barely hold him close to me, let alone provide one more feeding. This is when the first case of mastitis set in, likely because of some combination of 1) the ugly condition of my nipples, 2) the stress of his diagnosis, 3) the sleep deprivation and/or 4) the stress of his delivery, in general.

We resorted to pumping and botttle feeding him with breastmilk exclusively until my nipples healed and that took about a week. At the point that I was gradually reintroducing him to the breast, I was still in quite a bit of pain as he nursed. It felt like I was dispensing shards of glass through my nipples instead of milk. After a consultation with a lactation specialist at the hospital, we discovered that I had a secondary yeast infection called thrush (likely caused by the antibiotics I was on for the mastitis). Subsequently, both LB and I went on medication to clear that up. It had only been two days since we finished the mastitis antibiotic and here we were -- already back at the pharmacy for more drugs...and yes, I was still doing a lot more feedings by pumping and bottling than I was by straight nursing which seemed such an institutional way to feed a newborn baby to someone who was used to nursing (I nursed my older son until he was 7 months old).

The first weekend of April was glorious. Not only did we have beautiful weather outside, I felt like the metaphorical clouds that were hanging over the nursing situation were also lifting.  LB and I were both a week into the thrush recovery and I was able to breastfeed him without biting my lip or curling my toes in pain. Finally! We achieved a healthy nursing relationship. Finally! I was able to conduct a night feeding in less than an hour and a half (how long it takes when you have to add the steps of pumping, sanitizing the pump stuff, bottling the milk, and sanitizing the finished bottle to the usual steps of changing a couple diapers, feeding, burping and rocking the baby back to sleep). I was SO happy. I thought we had made it out of the woods. After another week of finishing the thrush medication, we would be home free.

I was wrong. The mastitis came back the very next day.

As I was pacing through the house, holding LB akwardly away from me to prevent him from touching my very sore breasts, the reality of my situation hit me like a ton of bricks. I was spending so much effort trying to make breastfeeding work that I was missing everything else. My typical day consisted of pumping every 3 hours and feeding LB the pumped milk every 2-3 hours. This meant 20 minutes to prep, pump, store milk and clean my pump parts every three hours around the clock, followed by at least 20 minutes to prep a bottle, feed, burp and give LB his thrush medicine every two to three hours around the clock. In addition to that, there was a daily load of laundry to gather, wash, fold and put away and a twice daily regimen of sanitizing bottles -- both aimed at eliminating the yeast that was causing the thrush from our clothing and his eating vessels. In a single 24-hour period, I was devoting at least 8 hours just to trying (in vain, it seemed) to make this breastfeeding thing work.

The rest of my days were spent attempting to spend at least a little bit of time paying attention to my older son and my husband while also putting breakfast, lunch and dinner on the table for the family, keeping up with other necessary household chores (laundry, grocery shopping, dishes, etc) -- the other stuff like vacuuming and general tidying up were already out the window -- and getting a couple hours of sleep. In short, I was exhausted and that made me grumpy. That led to me feeling even more crummy and also quite guilty for not having the time or energy to spend any "quality" time with my boys or to really step back and enjoy the early days of LB's life. I was either missing it entirely or I was walking through the day as too much of a zombie to appreciate it.

I saw myslef holding LB at that moment (in my forearms, as far away from my breast as I could) and realized just how broken this situation was. The best part of breastfeeding for me last time (with my older son) was the physical closeness we had. We snuggled, we bonded and it was so rewarding. I knew that I wasn't establishing that same bond with LB because the breastfeeding itself was so physically painful that not only did I not want to nurse him, here I was holding him as far away from my chest and the beating heart that he undoubtedly found so comforting, as I could. The psychological guilt that I felt at that moment -- wanting to hold my beautiful, warm, snuggly baby and at the same time not wanting him or anyone else to touch me was THE WORST -- a dagger straight through my heart. I realized that I wasn't hugging my older son or husband tightly to me anymore either. This was all wrong!

Walking through the house that night, I was crying because I wanted breastfeeding to work so badly, but I was also crying because I knew that it wasn't working and that I needed to move on before it consumed me, threw me into depression and/or damaged the establishment/maintenance of a bond between me and my boys. In some respects, it was the hardest decision to make, but at the same time, I knew it was the only decision I could make. So much more was on the line here than just the uncomfortable stares I would start receiving from other moms as I mixed up a bottle of formula instead of donning a nursing wrap. This was my family and I needed to start feeling like a Mom again, not just like a walking advertisement for La Leche League. I needed to let go of breastfeeding and start hugging my kids and my husband again.

I visited the doctor the next morning for yet another course of antibiotics to clear up yet another bout of mastitis and I called the lactation nurses for instructions on how to taper off my milk supply. I was finished with breastfeeding.

It's still hard for me sometimes to admit that I failed at breastfeeding. It seems like such a natural thing, like something that automatically works unless you do something to break it and I must have somehow broken it for it to have been such an epic failure, but I know that I did everything I could. Every single doctor and nurse and lactation consultant that I worked with over the course of those 4 weeks told me that I was doing everything right and that they couldn't explain why I kept getting infections. They also all told me that no one would fault me for quitting if that's what I chose to do. They assured me that millions of babies eat formula and turn out just fine.

I wanted to believe them and I did believe them, but I also knew that I had to give myself permission to quit before I could move past the failure of it all and into acceptance. That's where I am now. I haven't pumped in nearly a week and my last trip to the grocery store included a sizable purchase of powdered infant formula. I have removed the nursing wrap from the diaper bag and packed away the breastpump.

LB takes the bottle happily and is thriving in every way. For the last two nights, he has woken up at around 4 a.m., not because he's hungry, just because he wants to be snuggled in my arms. I hold him close and he squeaks his little infant squeaks before closing his eyes and drifting off to dreamland snuggled against my chest and the comforting sounds of my heartbeat. We are bonding and I know that he loves me. I am happy.

My older son has returned to running headlong into me when I pick him up from the sitter and whenever the mood strikes him to come hug his Mommy. I can snuggle in bed next to him to read him his bedtime story without worrying about whether he is going to bump me in the wrong place during the unpredictable and exuberant wiggling as we get to his favorite parts of the book. We are back in a comfortable and affectionate place and I can return his love for me with great big hugs of my own. I am happy.

Of course, Husband has been uber-supportive of me on this from day one. He supported me in my efforts to make it work and he supported me in my decision to call it quits. He is getting his happy wife back because I am happy. Deep down I know that this is the right decision

Breastfeeding this time around may not have turned out the way I was expecting/anticipating, but it is what it is. As long as LB gets fed and snuggled, everything will be just fine.

Friday, April 6, 2012

One Month



It has been one month since LB joined our family...and what an eventful month it has been! We've had our share of hurdles -- both hurdles typical to those anyone would encounter as a newborn enters your life and a few unique ones on top of that because of his MCADD -- but, all in all, it has been a great first month.

We are so fortunate that LB is such a happy and cooperative baby. He likes to sleep, which is great. He must be doing lots of growing to always be so sleepy. He is starting to show some interest in toys and especially in the mobile over his crib. He gets very excited when the music plays and the animals dance around as he gazes up at them. He also likes to watch his big brother, which is fun for us to watch. He was laying on his quilt today and our older son was playing near him, sort of near his head.  LB practically rolled over since he was looking over the top of his head trying to keep an eye on his big brother.

LB has also been very tolerant of all of the affection bestowed upon him by his brother. He is the lucky recipient of many exuberant kisses and an endless supply of toys to play with. His big brother absolutely loves him and is the proudest big brother in town.






Husband and I are also adjusting pretty well to being the parents of two little boys. We go to bed tired at night, that's for sure, and we also go to bed feeling incredibly blessed. The fun is just beginning!

Sunday, March 25, 2012

MCADD - It's Genetic!

So I mentioned yesterday that LB has MCADD because his MCAD enzyme isn't working. What exactly causes that to happen? The answer is genetics. Your body has genes that tell it to make enzymes and his genes that make the MCAD enzyme are what isn't working.

Having errors in your genes isn't all that unusual. Our genetic counselor told us that everyone has errors in their genome, typically around 20. Genetic errors aren't usually problematic because you have two copies of each gene and most of the time, at least one of those copies is fine. The body uses the "good" copy to do what it needs to do. Unfortunately, BOTH of LB's genes that tell his body how to make MCAD either aren't there or are broken, so his body honestly doesn't know how to make the MCAD enzyme. It's kind of like his body's recipe book has that page ripped out or somebody spilled something all over it and it's illegible. As much as he may want to make that enzyme, he just doesn't know how.

How did he end up with two bad copies of the same gene? It's his parents' fault!!  Husband and I just happen to have the same errors in our genetic code and we both passed the "bad" copy of the MCAD gene onto LB. It's likely that Husband and I are both just carriers of the condition. We have one good copy of the MCAD gene and one bad copy, but our bodies can use the good copy to make the enzyme and we are fine. Unfortunately, between the two of us, we didn't give LB a single good copy to work with. With both of us being carriers, the chances of us having a baby with MCADD are 1 in 4. The process looks something like this...


We know through newborn screening that LB has MCADD. That is, he has two bad copies of the gene. We now know that both Husband and I are at least carriers of the condition (Rr) since we produced offspring with one bad copy from each of us (rr). If we are both carriers, then there is a chance that our older son, LM, may also have inherited a copy of our bad gene. He could also be a carrier (Rr) and there is a 50% chance of that. The best case scenario would be that he inherited only our good gene (RR) and there is a 25% chance of that. Since the state was screening for MCADD two years ago when he was born, it is unlikely that the LM has MCADD, but they suggested we re-test him just to be sure -- his sample card may have been mishandled or the wrong test done on the wrong blood spot. Again, it is unlikely that he has it, but we're going to go for "better safe than sorry."

Our genetic counselor told us that in some situations, infant screening has identified the condition in a parent (since testing for it has been only relatively recent). With MCADD, the parent happens to be lucky enough to not have ever been very ill to where their life was in danger due to fasting, but knowing they have the condition going forward can be very helpful for future illnesses, surgeries, etc. Knowing that there is also a possibility that one or both of us could have MCADD (although unlikely), we are both going to be tested to be sure. If one of us ends up testing positive for MCADD, our genetic situation changes slightly...


If one of us were affected with MCADD, that person could only pass a bad copy of the gene onto our child. The unaffected parent could pass on either a good copy or a bad copy. Thus, this would give us a 50-50 chance of having a child with MCADD and all of our children would at least be carriers of the condition.

I doubt either of us has MCADD, but it's also so statistically rare that two people with the same genetic errors have children together, so I guess anything is possible. I'm still really thankful for newborn screening, though. Without it, we would never have known LB had this condition and we certainly wouldn't have know that we were carriers of it either.

Saturday, March 24, 2012

MCADD Explained

As promised, here is a little more information about LB's medical condition, MCADD.

MCADD is a fatty acid oxidation disorder found in about 1 in 15,000 babies. Fatty acid oxidation is the process your body uses to turn fats into energy and fatty acid oxidation disorders occur when certain enzymes that break down these fats into energy are either missing or broken. In MCADD, the Medium Chain Acyl-CoA Dehydrogenase enzyme is affected and individuals with MCADD are unable to break down medium chain fats from foods they eat and are also unable to break down medium chain fats stored as body fat. The process looks something like this...


So, if the body can't use the fats, what does it do with them? Basically, it treats them as toxins. Our bodies have substances called carnitines that serve to get rid of waste products.  LB's body is going to end up making a lot of carnitines because not only will they have to get rid of all the "normal" toxins that our bodies need to get rid of, they also have to get rid of the fats that he can't metabolize into energy that his body "thinks" are toxins. The doctors will monitor his carnitine levels periodically and may need to supplement his carnitine levels if he's not making enough.

MCADD can cause bouts of illness called Metabolic Crisis which can include sleepiness, irritability and poor appetite. These can be followed by fever, diarrhea, vomiting and hypoglycemia. Anytime that he is losing nutrients and unable to replenish them, he is in trouble and needs to go to the hospital for a glucose IV, which is, in essence, readily accessible energy for his body to sustain metabolism. If he is not treated quickly for metabolic crisis, he can have breathing problems, seizures and possibly even slip into a coma or die (scary!). Thankfully, metabolic crisis can be avoided simply by not allowing him to fast OR if he is fasting (because he can't keep food down due to illness, etc), we have a can of special formula to feed him. It is called polycose and is basically just pedialyte with HUGE amounts of sugar that his body can immediately use for energy, thus maintaining his metabolism.

Tuesday, March 20, 2012

Polycose Potion


It was a little more difficult to fill out prescription for Polycose than we anticipated.  Our pharmacy called us and said that they couldn't even order it.  We called the metabolic clinic at Children's hosptial and asked them if they could help.  Sure enough, the pharmacy on site at the Children's Hospital is a Walgreen's and our local pharmacy is also a Walgreen's.  Their pharmacy had it in stock, so they put their pharmacy in touch with ours and voila!  This lovely can of powder is now hanging out in our pantry.

Funny.  The first time they said "Polycose," I kept thinking about Harry Potter and his Polyjuice Potion.  

Saturday, March 17, 2012

Metabolic Appointment

We met with the Metabolic Specialists at Children's Hospital this week. It was our first visit to a Children's Hospital and we were immediately in awe of how kid-focused everything was -- from the colorful waiting areas complete with toys to the little red wagons they use for transporting kids around.  We were anxious to hear more about the condition LB has and get complete information on how we would be able to keep him healthy.  I admit that I was a little bit scared of what we were going to hear.

The first thing they did was to weigh and measure LB and they were keen to note his weight in kilograms (for reasons I'll discuss later).  We then met with a genetic counselor who talked to us for more than an hour.  She took a complete genetic history of both my husband and me, in addition to educating us on how LB inherited MCADD and how the newborn screening system alerted them to contact us.  She then told us about MCADD and what we would need to be aware of to ensure that LB remains healthy.  More details on these in future posts...

Basically, we need to keep careful tabs on how much and how often he eats, especially during his first year.  His body cannot rely on stored fats for energy like that of a person with normal metabolism, so his body has to rely on glucose.  Right now, he is getting glucose from breast milk, but when he expends that energy, he has only a small store of glucose in his liver than he can rely on for back-up power.  As he grows, that store will grow larger and he will be able to go longer between feedings.  For now, the rule of thumb is that he can go one hour between feedings for every kilogram of body weight he has.  He is 3.375 kg now, so he can go about 3 hours between feedings. 

In times of illness, we need to be extra careful to monitor how much he is eating and how much he is keeping down.  If he vomits, for example, we would need to go back to his prior feeding and count the number of hours it has been since his last meal in order to accurately assess how often it has been since he last ate (and retained the food).  We were advised that they would likely have a very low threshold for simply admitting him to the hospital for IV fluids in times of illness so that they could be sure that he is getting the fluids that he needs to keep his body from going into metabolic crisis, the consequences of which can be devastating.  We were provided with an emergency letter to present to the Emergency Room staff which describes his condition and his need for immediate medical intervention to prevent life-threatening complications (it sounds very scary for a reason -- it's meant to scare the ER docs into treating him swiftly and aggressively, even if his illness seems minor on the surface because it's what's going on with his metabolism that is of concern and we can't observe that just by looking at him).

We were also given a prescription for Polycose, a glucose-rich powder that we will need to feed to him in times of illness to make sure that he's getting enough glucose to maintain his metabolism.  In a typical child, you would feed them pedialyte or gatorade to maintain their electrolyte balance in times of illness, but we were told never to feed LB straight pedialyte, only pedialyte that is doctored with his prescription polycose since pedialyte doesn't have any sugar, which he will desperately need when he is sick.

We asked if he would need a special diet and they told us he wouldn't.  He just needs to eat regularly and probably have a good, hearty bedtime snack once he's old enough to sleep through the night.  He doesn't have to avoid any foods or do anything special.

We asked if he would be able to do all the things that normal kids do -- play sports, etc. and they assured us that he would, as long as he eats well and avoids fasting.

We asked if the clinic treats a lot of kids with MCADD and they said that the state screening program has picked up approximately 20 kids since the screening program for MCADD began 6 years ago.  All of them are healthy and doing just fine, although they cautioned us that some parents of MCADD kids tend to over-feed their kids, which is unnecessary and can cause weight issues.

Unfortunately, they did relay a story to us that was quite sad.  Ironically, it was also one that I remember reading about while I was pregnant with LB.  A baby died when he was four-days-old and his newborn screening came back positive for MCADD the very next day.  The baby fell asleep in his mom's arms and never woke up.  His parents didn't know that he had MCADD and needed to eat frequently.  The hospital where he was born didn't courier their screening cards to the lab, there was a weekend involved and the end result was very tragic.  How very thankful we are that our newborn screening result came back so quickly.  I don't dare think about what would have happened to little LB if we hadn't gotten the call until Monday morning, instead of when we did -- late on a Friday night.

The clinic will see us every few months for his first year, since so much changes in kiddos during their first year.  After that, they will likely only see him about twice per year. 

Friday, March 16, 2012

By the Numbers

4 -- number of people in my family =)

10 -- number of days old LB is

8 -- number of doctor's appointments we've had in the last 7 days

24 -- number of pounds that I've lost since giving birth

16.5 -- LB's weight gain in ounces since leaving the hospital

12-14 -- average number of times per day that we feed LB

2.5 -- average amount of breastmilk per feeding