Kinda Crunchy Mom

April 18, 2008

MCAD? MCAT? Medium chain ac…huh?

Filed under: MCAD — by mcadmom @ 10:44 pm
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My daughter Olivia has Medium-chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCAD is much easier to remember and how we say it.  Olivia says MCAT, but she is partial to the felines).  Imagine getting that tounge twister of a diagnosis in the post-natal fog.  All I really remember from the first phone call is learning that our baby girl could die in her sleep if she didn’t eat enough.  Not exactly one for the baby book…

MCAD is a genetic disorder in which the affected person cannot metabolize fats effectively.  In simple terms, Olivia can’t convert fat into energy and instead needs enough glucose in her bloodstream to keep her body functioning.  Practically speaking, that means that she has to eat frequently (even waking at night to eat), stick to low fat foods, and when she is sick she needs even more food and/or medical intervention.  Answers to the two big questions:

1. No, she won’t grow out of it

2. Yes, she will lead a normal life (minus marathons and Happy Meals)

Now for the scary part…

Before newborn screening, MCAD was most commonly diagnosed post-mortem.

Otherwise healthy kids died in their sleep after a bout with stomach flu or after not eating well the night before.  The kids were either found unconscious or worse, in bed.   If they were brought to the hospital in time, the rarity of the disorder meant that doctors did not recgonize the symptoms or treat them.  Usually, all that is needed when MCAD folks have a “metabolic crisis” is a dextrose I.V. and strict monitoring.  Sugar–that’s it.

Scary.  And sad.

Day to day, Olivia eats a heart-healthy diet, avoids fasting and replenishes sugars as she plays.  When she’s sick, we try to feed her more frequently (like every 3-4 hours) and watch her like a hawk.  If she’s throwing up, she goes to the ER and then to the PICU for a couple of days.  Not a huge deal in theory, but it’s the fear that gets me.  I always wonder when i go to wake her if I let her sleep too long, if she needed to get up sooner.  I try to balance the realistic part of me that knows we follow the doc’s advice and that knows that she (and we) need sleep at night with the part that knows that the moms who’ve lost a child to MCAD would give up sleep forever just to have their child back.  I try to balance the gratitude for knowing her diagnosis with the anger at the lack of information.

I try to balance Olivia’s life between the 3 year old who is like every tot and the 3 year old who has a potentially fatal disorder.

That’s why I am blogging–because I need the catharsis. 

I spoke to another mom last week whose three week old baby was just diagnosed and I realized how much I understood her confusion, anger and fear.  After I hung up, I felt this sense of relief because I was able to share with her things that even my husband doesn’t understand.  I am open about Olivia’s disorder, and most everyone who knows us knows about MCAD, but I don’t tell people how scared I am, or how hard it can be at times.  Hopefully this will be a place where I can share what it is like–if only to myself.

 

 

A quick word about newborn screening–I am usually against the over-testing done pre-natally.  But here’s the thing–the newborn screen costs $25, uses a couple drops of blood, and tests for rare disorders that are highly manageable but fatal if unknown.  Not every state tests for every disorder, but you can pay for it yourself.  It is crazy to think that Olivia was diagnosed because we live in Michigan, but if we lived in Pennsylvania she could have died the first time she had the pukeys.

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3 Comments »

  1. Hello. It’s weird, but I felt a since of relief reading your post. I saw your comment, and had to read your blog. Ovlia is a beautiful girl, and I’m so sorry that you have to also deal with M.C.A.D. Maybe we can share information as it crops up? I don’t know any other mom with a child who has M.C.A.D. My Sunshine is only 3, and it’s been interesting. Some of her episodes mimic Olivia’s as well. One way we’ve lessened ER visits is by being prescribed Zophran (I think that’s the spelling) It immediately stops the vomitting when she’s ill.
    God bless and keep Oliva safe and well. And btw, that’s why I started the blog too, just needed a place to explain it to myself again. 🙂

    Comment by songwriterparents — April 29, 2008 @ 3:18 pm |Reply

  2. Hello. It’s weird, but I felt a since of relief reading your post. I saw your comment, and had to read your blog. Ovlia is a beautiful girl, and I’m so sorry that you have to also deal with M.C.A.D. Maybe we can share information as it crops up? I don’t know any other mom with a child who has M.C.A.D. My Sunshine is only 3, and it’s been interesting. Some of her episodes mimic Olivia’s as well. One way we’ve lessened ER visits is by being prescribed Zophran (I think that’s the spelling) It immediately stops the vomitting when she’s ill.
    God bless and keep Oliva safe and well. And btw, that’s why I started the blog too, just needed a place to explain it to myself again. 🙂

    Comment by songwriterparents — April 29, 2008 @ 3:18 pm |Reply

  3. So glad to connect with another MCAD family! I am going to email you ASAP!

    Comment by mcadmom — April 29, 2008 @ 10:07 pm |Reply


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