MCADD

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.