Strength for the Journey

Relying on God in our strange trip with Mitochondrial Disease

Our Tiny One

When Erin was born we couldn’t get over how tiny she was.  Our oldest, Tracey, had been 9 pounds 6 ounces.  Erin was only 5 pounds 9 ounces!  So tiny!  So precious!  She looked perfect.  Tiny, but perfect.  Ten fingers.  Ten toes.  Beautiful features.  Gorgeous curly hair.

It was only much later that I was able to see signs of her disorder for what they were.  In the hospital she had a hard time regulating her temperature.  They double wrapped her in blankets and told us that this was common in newborns; that her body would learn to regulate itself soon.  She fed very slowly and lost a lot from her mouth as she would suck.  Her hands and feet would turn purple at the slightest chill; I just dressed her extra warmly.  She was so constipated that she would scream and bleed when she had a bowel movement.   Our doctor gave her something for the constipation, but it didn’t help a lot.  At the time, these symptoms seemed so disconnected. Other red flags were appearing.  We really began to worry when by the age of four months we still had to work really hard to get her to look at us or smile.

This marks the beginning of a very trying time seeking a diagnosis.  At first, we wanted to ‘wait and see.’  After all, babies develop at different rates, right?  Well, after two months of no more developmental progress, we decided it was time to see what was going on.

The first thing our pediatrician focused on was her microcephaly (small head size).  At six months of age, Erin had a CAT scan done.  It showed a ‘normal’ brain.  Erin also had a chromosome panel run.  After two or three months of waiting, this too came back ‘normal’.  We were referred to a geneticist and a neurologist.   The neurologist noted that Erin rubbed her hands together a lot in what she described as ‘hand washing’ motions.  She suggested a possible diagnosis.   An EEG was run.  No seizures (thank you God).  An MRI was done of her head.  No major findings.  The geneticist suggested several possible diagnoses.  Again we tested.  Again we waited three months.  Again we got ‘normal’ results.  (As a side note, it always makes me laugh when I’m watching my favorite crime shows like CSI or NCIS.  I watch them come up with a DNA match in minutes, when my experience says it will take months of waiting.  But then, I guess that wouldn’t make for quite as exciting a show, huh?)

Yet clearly, Erin was not ‘normal.’  What was wrong with our daughter?  Why can’t anyone give us an answer?  I began to refer to her as our ‘mystery girl.’

Fortunately I’ve always loved a mystery 🙂

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