Wednesday, December 15, 2010

Second MCAD appointment

Today we had Cupcake's second appointment with the Genetic and Metabolic Center.  It's an ordeal to get there.  Mt Sinai is on the Upper East Side, and we are in Brooklyn, so it's quite a cab ride to get there.  We probably could take the subway, but with the cold front we are having, a two month old baby, and the stress that it gives me to go to a geneticist, it's better to just pay up.  That way we are all happy.

The appointment was the nicest one yet.  No one was worried, everything is fine, yet it was important to go.  The doctor wants Cupcake to go for a check-up every 2 -3 months during her first year.  They want to observe her and take blood samples to make sure things are going okay at a metabolic level.  It feels a bit frustrating to have to do this whole trek again, have more blood samples, and pay all this money, but in the grand scheme of how much babies cost, its fine.  At least we are on top of the situation.  And every time I begin to feel like this is a made-up disorder designed to make people pay lots for health treatment, I remind myself that babies and children have actually died from this.  It's a sobering thought.  And if maybe my headache of giving lots of blood samples means that they can study the disorder better, then good.  Hopefully, by the time she is in her 20's and thinking of having kids of her own, this "disorder" will be a thing of the past, like one of those allergies that feel so commonplace now.

So, some conclusion from the appointment:

- Cupcake is an adorably chubby baby, weighing an awesome 13 lbs.  But she's also really tall, so she's very proportional

- She's a champion eater, and gaining just right, so we shouldn't change a thing.  What we are doing regarding her feedings is working great.

- We still need to keep her on the 3 -4 hour feeding schedule, even though she's gaining weight so well.  Adding more time will have to do with her organs maturing, not with how heavy she is.  I was really hoping for a different answer.

- There is a possibility that Nate might actually have this too, considering that he was diagnosed as hypoglycemic when he was younger.  In fact, there are adults with MCAD who don't find out until their child gets diagnosed.  This doesn't mean that MCAD isn't serious, just that these adults were lucky and never had a major illness interfere with their feedings.  In fact, the doctor said that it would probably give us peace of mind if Nate tested positive, since it would show that one can lead a perfectly healthy life while being MCAD positive

- Her blood counts were all over the place last appointment because newborns fluctuate a lot.  It doesn't have to mean anything dramatic.  But yes, she definitely has MCAD.

- She's very healthy, and is hitting all her milestones with no problems.  Yay!!


Thursday, December 9, 2010

Overnight feeds

Last night I overslept and ended up feeding Cupcake at 3:15 am instead of 2:30.  Her previous meal was at 10:30 pm, so at that point it had been closer to 5 hours between meals.  The doctors told us to not wait any more than 4 hours.  This is not the first time this happens.

I have an alarm, but in all honesty, its easy to snooze while still in deep slumber.  I've tried putting it in different places, but somehow, my arm manages to move on its own and turn it off.  Or maybe I set the alarm wrong.  Who knows, at 3:15 in the morning its hard to think about things rationally.  I do know that as soon as I saw the time I woke up fast in a fright.  I definitely don't want Cupcake to go into metabolic shock, and even though we have a 6 hour window, this was too close for comfort.  I put her to my boob and she ate, calm, as if nothing was happening.

I hate the middle of the night feeds.  Hate them with a passion.  Hate them because Cupcake seems perfectly happy to sleep through them.  Hate them because she probably would be sleeping 6 hours straight if it wasn't for me trying to dream feed her.  Hate them because its been about 9 weeks since I get more than 3.5 hours of sleep straight.  Hate them because Cupcake has been spitting up a lot, so I need to keep her head elevated for about 10 minutes after feeding, which means that for ten minutes, Nate is asleep, Cupcake is asleep, and I'm the only fool needing to keep some semblance of wakefulness.  Hate them because of what they represent with her MCAD.  Hate that I can't aspire to a full night sleep for a long time, even if my baby was more willing to.

Next week we have another appointment with her Metabolic doctor.  This is her first follow-up since she was diagnosed with MCAD some 6-7 weeks ago.  Hopefully they will see that she is gaining lots of weight and is in the high percentile for her age, and adjust her feedings accordingly, or give us some reassuring new regarding her dietary needs.

Meanwhile, I feel extreme guilt for hating her 2 am feed.  What kind of mother am I?  I have been given the means to keep her healthy and free of MCAD symptoms, and the only drawback is that I have to suffer in my sleep for a few months.  Shouldn't I be doing it more willingly?

Wednesday, December 8, 2010

Vaccines - 2 months

We went yesterday for her 2 month check up, where Cupcake also got her two month shots.   I am a big vaccine supporter, and fully believe that everyone should be vaccinated (its herd immunity, after all), but it broke my heart to have her hurt with the needle.  She was so happy in the doctor's office, smiling at the nurses, and then *prick*, it all went down the drain.

She was fussy all afternoon, crying uncontrollably as though something was really hurting.  It probably was, I can't imagine taking so many vaccines, have you body reacting to it, and not feel under the weather.  I gave her a dose of infant acetaminophen and it seemed to make her feel better.  Still, for the rest of the day she needed to be held in order to sleep.  So I had her in my arms for 5 straight hours.  Exhausting, sure, but she was feeling achy and I just wanted to make her feel better.  By the time Nate got home from work, I was exhausted, but Cupcake seemed to be over the fussiness.  She was even smiling and being chill again in the evening.

I was really nervous about the vaccine, because a common side effect is a low fever.   This would be harmless by all accounts (though very unpleasant for Cupcake), but it triggers my MCAD buzzer.  They told us at the Metabolic Clinic that we need to be extra vigilant if she has a fever, as this burns more calories and would affect her caloric intake.  So I just wanted to avoid any type of fever, whether caused by a vaccine or due to a genuine bacterial infection.  It bothers me greatly that the MCAD issue is always somewhere in the back of my mind.  It's exhausting to worry about it, specially since Cupcake has so far been completely asymptomatic.  Luckily, the vaccine only made her extra fussy and we didn't have to deal with the issue.

Still... my poor baby.

Sunday, December 5, 2010

Breastfeeding in the Subway

Today I breastfed Cupcake on a bench on the subway platform.  As we were halfway through the subway came, so I took her off the boob, and burped her as we got inside.  Then, once I found a seat, she kept eating.  It was a unique experience, to say the least.

If I'd had a choice, I wouldn't have done it there.  Too many people, too much movement, too much craziness.  However, we were with friends, and the way the schedule ended up working out, we walked around up to her feeding time.  I was concerned about it, but didn't know how to state that we needed to stop to feed her without feeling that I sounded like a lunatic.  Nate and I decided that the most reasonable thing would be to feed her in the subway, since we knew that we'd be in there for at least 1/2 hour.  It worked out.

Its one of the things that annoys me about MCAD and her feeding schedule.  I want to write an entire post on how her feedings work, actually.  But its weird to tell my friends that my adorable sleeping baby needs to be woken up to feed in the next 2o minute window or it could be bad for her health.  It sounds crazy even to me.

I struggle with how much to advocate for being inside somewhere to feed her, and how much to go with the flow and figuring that we'll get the feeding figured out.  I want to be flexible.  I don't want the MCAD schedule dictate how we live our lives, but at the same time, how can it not?

Thursday, December 2, 2010


About three days after our little cupcake came home from the Hospital, we got a phone call from Mt Sinai Medical Center (this, btw, was not our hospital).  My mother was staying with us to help with all the newborn stuff for a couple of weeks, and since I was taking a nap (finally), she let my cellphone ring for me to check the voicemail later.  This was fine, since most phone calls that I get are from  my husband anyway, who's only in his office 3o minutes away.

However, when I woke up, we realized that the phone call were from an unknown NY number.  It was the Metabolic and Genetic Center from Mt Sinai Hospital, and they had left 4 urgent messages to call them back.  They even left a text (clever people, really) to make sure I'd get in touch with them.   Well, this scared the bejeezus from me, because it's never a good thing to get urgent messages from doctors saying to call them back about your newborn screening.

When I finally got ahold of them (and at this point I was pretty frantic), a nice doctor told me that my little 8 day old cupcake had tested positive for MCAD.  His instructions were that the disorder could be deadly, and I needed to come see them straight away, and that I needed to feed her every three hours, even waking her up overnight.  He also told me to not google MCAD because it would only scare me more, as there are many tragic stories on the internet.  This last piece of advice was probably a bad one for me, as it only freaked me out more. I tend to not assume the worst on the internet, and would have probably looked for medical information rather than venture the forums of god-knew-where.

When Nate called later they told him the same thing. We were trying to avoid going, since I was still recovering from the c-section and had been told to avoid too much physical activity.

Nevertheless, there we were, the next day at the Metabolic and Genetic office.  My mom waited in the car for what we thought would be a 30 minute appointment.  It ended up taking 3 hours.  Most of the time was spent because they needed a pee sample from Cupcake, but its hard to get a newborn to pee on the actual bag as needed.  There were many foiled attempts of her peeing on the ground, outside the bag, pooping into it, etc.  In the meantime, they got a blood sample from her, and we met with doctors that explained the situation.

Basically, Medium chain acyl CoA dehydrogenase deficiency is a rare genetic disorder.  Rare as in not being common, genetic in that it's based on genes, and a disorder in that there's something wrong with her enzymes.  But seriously, I was furious with the doctors for freaking us out so much over something that is so treatable.   They really made us feel that there was something incredibly wrong with our baby, and I cried for days after the diagnosis.

Now, after the dust has settled, and after talking to my aunt who is also a doctor, I realize that this is just an annoying setback in her feeding style, but nothing to freak out over.

Basically, people with MCAD can't process fats into energy, which means that they cannot go into fasting mode, or their bodies will go into metabolic shock due to lack of energy.  If this happens, it can be tragic, there are risks of coma, brain damage, and even death.  However, should said person go into shock, they need to be taken to the ER immediately and given glucose via IV, no big deal.  And the way to avoid going into shock is refrain from fasting.  Plain and simple.

So for as long as Cupcake is a little baby, we need to feed her every 3 - 4 hours.  Technically, she'd be fine up to 6 hours without eating, but that would be riskier because it would depend on how much she ate, so we are doing a max of 4 hours to be on the safe side.  This means having to wake her up at night to feed, which is frustrating, but not tragic.  As she gets older, the time she can go between meals will be longer, and the only major dietary restriction is that she should have a low-fat diet.  Something that we all should be doing anyway, so hopefully this will inspire our family to eat more balanced.

Still, the prospect of MCAD scares me.  A lot.  We need to be extra vigilant if she has a fever or is throwing up, because that burns extra calories and will cause her to go into fasting quicker.  We need to be extra observant of her feeding schedule.  We can't trust her appetite to tell us if she really needs to eat or not.  I fear being one of those families that goes to the ER three times a year.  I fear for my little baby having to have IVs into her system to save her life.  I fear what this will mean as she gets older: will it affect her weight gain?  Her athletic ability?  Will she be irritable because she gets hungry?  What about her appetite?  Her ability to go camping?  Stay over at friends houses?  You name it, I've thought of it.

Still, based on everything I've read, it is a blessing that she was born in a state that tests for MCADD.  It is an incredibly treatable condition that can be deadly if mismanaged or not diagnosed.  Countless babies and children have died because they were not previously diagnosed.  My heart goes out to those parents, who had to endure such tragedies.  And I am eternally grateful that their efforts to expand newborn screenings meant that my Cupcake could be tested and receive adequate treatment.  I feel lucky, in many ways.

Bottle Feeding

Yesterday was the first day Cupcake drank from bottles all day long.  Before this we had given her the bottle a couple of time to get her used to it.  Actually, if we are to be completely honest, it was to get us used to the idea and figure out how she would take it.

I've been pumping in the mornings for a rainy day.  The time I had an ARE to take, or needed to recuperate at night.  Yesterday we finally needed them.

I started to get a really bad headache Tuesday afternoon.  I took some ibuprofen and kept at it, because I get headaches all the time, and this is just par with the course.  However, by the evening it still hadn't gone away.  Nate encouraged me to take something stronger, and I took my prescription of Acetaminophen with codeine, which my OB had given me for my migraines when pregnant, and is still safe when breastfeeding.

All night long I waited for it to work its magic, while continuing to feed Cupcake on her night nursing sessions.  Not pleasant when you have a bad headache.  Finally, during her 6 am feed, I was overcome with nausea and it was all I can do to not throw up on the baby.  I didn't even make it to the bathroom and ended up relieving myself in the kitchen sink.  ewwwww.  At that point it was official, I had a full-blown migraine and for all of our sanity I should take my strong prescription, Sumatriptan.

Sumatriptan, which usually goes by the name of Imitrex, is a super strong migraine pill that is most definitely not safe to take while breastfeeding.  The official recommendation by the APA is to take it only if absolutely necessary, and my doctor told me to wait 12 hours before breastfeeding again.  I know my OB was very hesitant to write me a prescription, but last time I saw him I'd just had another terrible migraine and I knew I needed full on medication or I wouldn't be able to take care of my baby.  When push comes to shove, I'd rather give Cupcake formula for a day and be able to be there for her.  In the end we didn't need formula because I had pumped enough milk over the previous weeks to feed her all day, and even had an extra one left.

Nate stayed home from work so he could take care of the baby while I slept and recuperated.  She did pretty good with the bottle.  No issues from her.  Though it broke my heart a little to have her sucking form a rubber nipple, it wasn't so bad. After all, she was with her daddy, and he was delighted to be able to feed her all day.

Pumping and Dumping all day was one of the most demoralizing things I've had to do.  I don't like pumping, specially in lieu of a feeding.  I have a very cheap and simple pump because I am planning on feeding her in person, and I have no scheduling conflicts to interfere with that.  So the pumping would be for a once in a blue moon need, like yesterday.  So I have a cheap pump that gets about 1.5 oz a day and I just accumulate them.  Yesterday though, I had to pump to relieve the engorgement, and that was a much more painful process.  I was never sure if I was getting all the milk out, and my boobs still felt full at the end of the day...  agh, here hoping to not have to do this again any time soon.