The Day the Earth Stood Still

This is the second installment of the story of our journey with Maura…

Maura at one year old
Maura at one year old

Maura’s first birthday came and went with cake, ice cream, and the discovery that she was terrified of lit candles (picture Maura, screaming in her high chair, tiny cake with candle flickering, me saying “Blow it out!” as the older three kids are all “But Mom, we haven’t finished the song!”  “Just blow it out!”  – Maura did love the cake though.  Proving cake makes everything better.)

At this point, Maura had outgrown her hatred of car seats.  We could now travel without fear of arriving with bleeding ears.  She also literally, in a minute, changed her views on bathing.  She went from screaming to me showing her how she could splash the water to laughing hysterically in the tub just like that.

Hindsight and a lot of time hanging around therapists has led me to figure out why she hated the car seat and the bath.  It was because she couldn’t control her body.  If she moved right, she kept going right.  She didn’t have the ability to correct herself for months.  Once she was able to do that, she was able to enjoy herself in the bath, and not be afraid of car rides.

When Maura was thirteen months I finally got her to her twelve month appointment.  We saw the nurse practitioner, who weighed and measured her, asked all the questions – including if she was walking yet.  I can still remember us sitting in chairs and Maura standing holding onto my leg, then holding onto the NP’s leg as this was asked.  I probably joked that she was a late bloomer compared to the others.  The NP didn’t seem concerned…except she did lay Maura back on the table and maneuvered her legs about.  She said “She does seem to have a little low muscle tone.”  then stated that if Maura wasn’t walking by fifteen months, to bring her back for another check up.

At that time, I belonged to one of those internet baby boards.  There was one mom there with a little girl Maura’s age, who ended up being diagnosed with Rett Syndrome.   I remembered her saying her daughter had low muscle tone and needed extra help.  That low muscle tone could be a sign for something else.

Alarm bells started going off.  I started paying more attention to what Maura could and could not do.  She still couldn’t sit well – I had a shopping cart insert for the cart seat so that when she flopped over, she’d land on something soft.  I’d prop her up in the seat with my purse and a jacket or a box of cereal or something.  I noticed that despite being a pro at self-feeding, she didn’t use a pincer grasp.  Sippy cups were a trial – I went through several brands before we found one that suited her.  She hated grass.

And so the summer passed.  Maura remained all things sunny and happy, but she didn’t walk.  So at fifteen months, we went to see our doctor. That visit is one of those things burned into my memory.  I can remember the older three milling about playing with toys.  I remember Maura standing on the table, holding onto the doctor’s hands, all smiles and dimples for him.  I remember how normal it all felt at that moment, not knowing how a few words would suddenly pull the rug out from under us.  It was the last moments I’d have a “normal” baby.

The doctor was hesitant.  Looked her over once, twice.  He paused, and in a way that made you know he didn’t want to say what he had to say, the words came out of his mouth…

“I hate to even bring this up, because I’m 99% certain she doesn’t have it…I just feel like we should rule it out…but I’d like to run a blood test for Down Syndrome…I’m sure she doesn’t have it, but she does have some delays and physical characteristics, it would be good to rule that out…”

And the world stopped for me.

There she was, my happy girl, still holding onto the doctor’s fingers, smiling.  The older three still buzzing about on the floor.  Josh asking the doctor questions.  I could feel it all around me, and yet my world had paused.  I remember clearly thinking “Wow.  You really do go numb when you get bad news from a doctor.”

Then I blinked and somehow, we were all checking hands for a simian crease (now usually called a palmar crease.)  A single long crease in the palm of your hand that stretches clear across the whole palm, without a break.  There we were, three adults, looking at our hands and then Maura’s hand (she has one on her right hand) and then at the hands of the other children (go figure, Miriam also has one.)  And then he explained how that, plus the epicanthal folds around her eyes, coupled with what he considered a more significant amount of low muscle tone than we’d first thought – those were all signs that we should run a karyotype.

I left the office carrying Maura, holding paperwork for a blood test.  We walked out into the bright sunny day, Josh and the older three kids ahead of us.  All I wanted to do was hold my baby and sob.  But that wasn’t a great idea in the middle of a parking lot in front of impressionable young children.  So I didn’t sob.  I got to the car, got home, then turned around and took Maura straight to the lab for blood work.

And then, I did what any normal mother would do – I took her straight to the toy store and urged her to pick out a toy.  We chose a baby doll  We still have that doll.

Then, we waited. I stewed and worried a bit.  I got annoyed with the doctor for pointing out the epicanthal folds, because where once, I looked at Maura’s face and saw big blue eyes, now I saw Signs that Something was Wrong.  Eventually, that feeling faded, but it was there for a bit.

I also got this incredible urge to get pregnant Right Away.  To prove I could have a “normal” child.  To hopefully give Miriam a “normal” sister.  Then I slapped myself.  Miriam loved Maura the way she was.  She still loves Maura as she is.  And my children have proven that they are nothing close to normal.  That would require normal parents, which we failed at already.

What I did find during those two weeks of waiting for lab results was a blog, written by a mother whose infant daughter had leukemia.  By the time I’d heard about it, things were not going well.  While I waited for Maura’s tests results, I read about this child, who was dying.  As awful as it sounds, it was the reality check I needed at the time.  I could mope and mourn for the child I still had, or I could be grateful for what I did have.  I still had a healthy beautiful happy girl.  She was still going to grow – maybe not in ways we’d originally hoped – but she would grow, and be with us. My child was alive.  Not everyone gets that chance.   There were worse things than whatever that karyotype would offer.

I got ready for what life would hand me.

Life handed me normal test results.

This would be a reoccurring theme, we just didn’t know it yet.  So after all that build up, all that waiting, a tense phone call of “Oh no, test results will be at least another week….oh, wait, our bad…here they are…” we were braced for bad news that didn’t quite come.

Because while the tests were normal, we realized that Maura…wasn’t quite…

The doctor gave us options – we could wait it out, see if she’d catch up, or contact Early Intervention and get assessments and hopefully therapies.

Denial time was over.  The earth started to spin again.  It was time to be proactive.