Thursday, February 12, 2009


The story of Hannah

I started out mommying with Claire, born at 35 weeks but only 3 pounds 2 ounces in size, and diagnosed as having Intrauterine Growth Restriction. A strong little girl, no wilting lily she, but still small and worrying with her diminutive stature. She grew steadily but stayed wee, was brilliant but dainty, and strong willed enough I let down my guard and stopped the panic that comes with suspected incompetence in parenting. After I gave birth to baby numero uno, Claire the Magnificent, I wanted baby number 2. Wanted so badly I moved forward without fear. Hannah was, to my mind, to be my big strong healthy baby, who I would fight to ensure would be born a full term baby, capable of great feats of breastfeeding and eating prowess, who would grow like a weed and wear clothes sized to her actual age. I spent much mental energy telling myself that even though no evidence existed that anything I did carrying Claire might have caused IUGR, I would carefully shepherd this baby out and at least she could be full sized. I fought those high risk OBs, fought them day after day to be allowed to go to term and maybe into labor. Due date came, and a scheduled C-section, and a healthy baby 6 pounds, 1 ounce, with the face of an angel, born on the lucky date of 08/08/08. I was quite ill with complications and maybe not as attentive as I would have liked to have been but Hannah seemed to be an adept feeder, and if not gifted she was at least adequate. A little more than 48 hours after her birth, the nurses who stop by to stick her on the food source and check vitals thought she had a low temp and took her to warm her up in nursery, since I was so busy vomiting they thought it would be better for baby. When she didn't warm as expected they checked blood sugar, and found she had none, so a glucose IV went in and the baby went limp. As in floppy like a rag doll. Glucose gave her a normal blood sugar reading but but other weird signs said keep her in the nursery and watch her. The docs started antibiotics in case there was an infection, and I started pumping milk. Moo. The floppiness remained and my panic started rising over the next two and a half days as the medical team discussed various things that might cause low temp, low blood sugar and lethargy and I consented to any kind of test they might want to do. A young resident would frequently come to my hospital room to tell me I had a Mystery Baby, a safe baby, but a Mystery Baby. Finally the newborn screen results came back and the doc came to tell me Hannah had MCAD - Medium Chain Acyl Co-A Dehodrogenase Deficiency. Kindly, they explained to me that this was considered to be an "inborn error of metabolism" rather than a genetic mutation, but Jason and I must each have a defect on the MCAD gene, making us carriers, and when two carriers reproduce they can produce a child with this disorder. Hello guilt and worry! Howdy, panic! Nice to meet you overwhelming sense of personal inadequacy. Goodbye sleep. Who needs you anyway, you unreliable shit. Sleep is for the sleepy.

MCAD is perhaps a more benign metabolic disorder than some, in that avoidance of crisis has a simple plan of attack - feed the affected person regularly, never allow blood sugar to plummet, and hang on for the ride. Failure to keep blood sugar up means a fast trip to organ damage, coma and death, which is why undiagnosed MCAD kids can represent some of the unexplained SIDS deaths. The disorder was only identified about 30 years ago, testing to confirm it came much later than that, and currently not all states include this disorder on the panel of tests for newborn screening, for example, our state added the test only in January of 2006. If you google MCAD you will find that all the sad stories are those where the diagnosis came after a crisis or at death. Having all infants screened at birth will ensure that parents and care providers can take the steps necessary to avoid a metabolic crisis. Hannah's long term plan, as for all MCAD kids, will be to eat at regular intervals, and guided by her approximate weight we can assess her tolerance for a period of fasting. If at any time it appears she can't or won't take in adequate carbs for quick energy, we rush to the children's hospital, emergency letter in hand, and get sugar pumping in by IV. As long as she never burns all her glycogen, she will be fine, but if she burns all available quick energy, she can quickly produce toxins that affect her major organs, because she lacks the enzyme to burn the medium chain fats. Long term prognosis should be good with adequate nutrition, carnitine supplementation, and good medical care support.

Hannah, with her penchant for making her mark on the world, did experience a full metabolic crisis, but because she was still in hospital, due to our c-section delivery, she wasn't down for long. This should be the basis for us to feel plenty of warm fuzzy feelings and no fear for the future, because we got a diagnosis that was not made at an autopsy. But, fuck, fear is now my middle name! Never, never, never will I get over seeing my normal beautiful daughter go from classic infant appearance to floppy rag doll. Never. And never will I recover from taking her home after a few weeks, certain that we were only ever three hours away from a hospital admission. Now at the ripe old age of six months, based on her current weight, we are six hours away from a hospital admission, because if more than that time might pass without taking in carbs, she might again be in a state of metabolic crisis. Whatever number of hours we have for the longest allowable fast, I will never be totally comfortable. And I know my job is to not raise this child to feel broken, disabled or inadequate, but to accept this is just one thing about who she is but not every thing about who she is.

I want to walk some fine line between taking every necessary precaution, providing all available care, and helping her live the most joyful and interesting life she can without focusing on the hard bad stuff of having health concerns. I struggle enormously with watching every little bit of her development to see signs of lasting effects of the hypotonia she developed in the midst of her metabolic crisis. I see that she doesn't roll over according to developmental milestones, and one hand makes a fist and doesn't grab for toys and I worry about CP or continuing hypotonia or whatever other manifestation of hell might be visited upon us. And then I see that high wattage Hannah smile and take a big deep breath and sing the Hannah Rose song in her ear until she laughs until she snorts. Sometimes when I am driving I gasp and clap my hand over my mouth so I don't scream with worry, then I play a sad song really loud and sing until I get my equilibrium. We are six months into this without any other hospitalizations. Her day care providers are attentive and concerned, and notify me whenever her intake seems off, and so far if I take her home and snuggle her when they can't feed her, the milk goes in, however slowly, and maybe in fits and starts. As she starts to eat food we will learn all over again what her average is, what her minimum intake is, and what she is willing to eat. Don't ask me anything about teenage dramas and eating behavior, two year old tantrums, or where she'll be allowed to go on vacation, because I haven't worked out answers yet.

If you got here by searching for moms of MCAD kids, please feel free to email me directly for any more info or assurances I can give. Imagine this is me holding your hand and hugging you so you feel better. Then hug me back because this scares the crap right out of me. Newborn screening can detect MCAD and a host of other metabolic disorders. In the United States, most states have a panel of metabolic disorders that may now inlude MCAD, but this testing may only have been in effect in any given state for a short period of time.

And now you know why I am nuts.


  1. Hello lovely Ginger, and how beautiful Hannah the also Magnificent is. And how crazy must you be feeling. Now. I do know a girl with MCAD here in la Belgique and she is THREE. And still very much alive and non floppy and also beautiful and funny. And whilst her parents do absolutely still have the fear, I think it is less acute as she gets bigger and more robust (though, I must warn you, also more manipulative since she KNOWS her parents are desperate for her to keep eating). So, you know, hang on in there. Lost mind is entirely normal.

  2. Lost mind is normal?? Oh bugger. I am surely terrified that the girls might try to manipulate me . . . what do I do when they find out I am more squishy than putty in their wee hands - maybe even gelatinous!! I am so in over my head.

  3. Hello Ginger,
    I hope that a year after your post finds you in a much better frame of mind. I cried as I read your six month old beautiful baby boy also has MCAD and I have felt and still feel every emotion you stated.

    On the off chance you are still attempting to cope and haven't found a group to belong to, I wanted to let you know about

    This is a world wide support group of families affect by fatty oxidation disorders. It is founded by a family who's child was diagnosed upon autopsy. It is a wonderful group filled with loving families who help you, talk to you and cry with you whenever you need them.