Tuesday, January 31, 2012

Ellie | A Prenatal Diagnosis: 1 year later

In August 2010, we received the prenatal diagnosis of Down syndrome for Ellie. This is our story, with the perspective a year brings, as well as a few pictures of the little girl who caused us to worry, to cry, and to celebrate.  I've written previously about the weeks and months following the diagnosis, but this is our first post about how we got the news.

We'd been married for about seven months when we learned we were pregnant.  Morning sickness and exhaustion ensued.  Shortly before that magic twelve week mark when morning sickness supposedly goes away, we were at the doctor for a routine checkup, including a sonogram. 

The nuchal fold measured just above the normal range, and my world came crashing down.

Words like, "heart defect," "Trisomy 13," "Trisomy 18," "Down syndrome" were spoken by our  doctor.  "You can get CVS in order to find out for sure.  We've told you as much as we can here."  She was calm and compassionate, but she couldn't change the situation.

I'm healthy.  At the time, I was thirty years old.  I'd run eleven marathons, and had quit training for number twelve because I was pregnant.  Unfair.

We hadn't been married that long.  We have big dreams to travel and have adventures.  Unfair.

I teach Special Education.  I knew the moment "chromosomal" came up what we were talking about.  I couldn't be blissfully ignorant.  Unfair.

My doctor got the genetic testing center on the phone to set up the appointment with the genetic counselor.  I'd have to miss my first day back at work.  I called work.  I spent a week in tears.  Unfair.

Matt and I went on a mini-vacation.  We tried to relax.

The Monday of testing loomed.  I told the genetic counselor I would not terminate, and she dropped the issue.  I saw "Special Ed Teacher" written on my chart.  The genetic counselor was also calm and compassionate.  She couldn't fix the situation, either.

I opted to have the CVS procedure.  I hate needles.  I cried, and Matt held my hand.  Matt brought me home and got me settled.  I spent the rest of that day and the next in bed.  The following day, I went to work.  The genetic counselor had stated that she'd call around four.  I was getting off the freeway when she called, and she waited until I was home to deliver the results.

"Your baby does have Down syndrome."

One sentence.  Confirmation of what I think I already knew in my heart.  Through tears, I asked the gender.  We'd already picked names.  "Cling to each other," the counselor said.

I texted the friends coming to dinner to cancel plans, and called Matt at work.  "Come home."

I went to bed and cried until he got home, and then said the hardest words I've ever said.  I told him that we're having a girl, and that she has Down syndrome.

"Ellie has Down syndrome."

We called parents, and eventually the few friends who knew that we were undergoing testing.  Very few people knew we were pregnant at 11.5 weeks.

And the world kept turning.  We kept going to work.  We cried, we couldn't feel anything, we cried more.  We learned a lot about Down syndrome, and heard encouraging stories.  We were still scared.

megan3

The views on prenatal testing vary widely.  In my mind, the prenatal testing ruined our pregnancy but saved the first few months of Ellie's life for us emotionally.  We had to grow up fast.  We had to talk about things like open heart surgery and lengthy NICU stays.  I worried endlessly about miscarriage.

But when Ellie arrived, we had some brief celebration.  Nothing prepares you for your child being transferred to another hospital, for surgery, for the NICU, but at least we knew.  And the day she came home, the celebration began.  From mid-August of 2010 to late March of 2011, we knew stress and tears.  Her homecoming gave us some peace.

megan2

And now, our angel is settled at home.  We seem a decade older, and Ellie is doing well.  We don't parent any differently than our friends with typical kids, but our decisions about our lives seem to carry more weight.  "Will it be okay for Ellie?  Will we be hurting her development?"  We know that right now, she's on track for her age-appropriate milestones, but her upcoming surgery will set her back.  Life is better now than I could have imagined the day we got that phone call.

megan1

We still dream big, but instead of one big dream, our big dreams are a lot of little things that we never truly appreciated before.

Contributed by Megan at My Stubborn Little Miss

Friday, January 27, 2012

Lucy | A Postnatal Diagnosis

It really all started with a phone call in February 2008, though I wouldn’t know that for another five months. The day after my 20 week ultrasound, the obstetrician’s office called to tell me that they thought they saw an echogenic foci on the baby’s heart. They told me this was a “soft sign” for Down syndrome. They asked me to come back in for a Level II ultrasound.

I remember being so scared. I couldn’t get an appointment for five days for the follow-up ultrasound. They were the longest days I had known to that point. I didn’t want to tell many people about this “complication”, but I was really struggling with pretending nothing was wrong.  We were in the process of buying a house at that time, and had just put a bid in on a house I loved. Mark came into the room and I was crying. He thought it was because they had accepted someone else’s bid. I had never cared less about a house in my life.

My mom went with me to the ultrasound. “Everything looks perfect.” Sigh of tremendous relief. A few more months of blissful ignorance.

I felt my first contractions on Saturday, June 30 … literally just moments after taking care of the final preparations for Lucy’s arrival. We had been in the car after having the car seat inspected. I patted my tummy and had said, “Ok, Peanut, we’re ready for you now.” She listened.

The labor itself was horrendous. I didn’t know it at the time, but I was having back labor. This fooled me into believing that I was farther along than I really was. Sunday night I made Mark take me to the hospital, convinced this baby was coming any second. They sent me home at 1 cm. I felt foolish and vowed not to go back until I was sure she was on her way. The end result was that in a stubborn snit, I waited far too long and my precious daughter was dangerously close to being born on my living room floor.

Mark was at work, so my sister took me to the hospital and stayed in the delivery room for the whole ordeal. I progressed from 5 cm to 9 cm in less than 25 minutes. No epidural. I was sure I was going to die. The consolation was that she came fast. I barely pushed. Mark barely made it in time. From the moment of checking into the hospital until the moment she was born … 56 minutes.

lucy2

They took her to the nursery immediately for observation. I was so disoriented that this did not alarm me. They said it was nothing to worry about, but they wanted to monitor her breathing. They came back quickly and said she was breathing fine, but her temperature was low so they were going to put her in the warmer for a bit. They took me to my room, but we stopped by the nursery so I could hold her for a few minutes. She was gorgeous. She looked like Mark’s Mom, brother and aunt. I was smitten.

It wasn’t terribly long until they brought her in to the room. Maybe an hour? I was eating and don’t really remember. Life was still too surreal to be keeping track of time. We held her. We took pictures. Sometimes when looking back I feel like something was off, something that I couldn’t put my finger on. But sometimes I also think it’s just hindsight.

A few hours after Lucy was born, maybe about four or so, I was in my room with Mark and his parents. The pediatrician came in to examine her. She was listening to her heart. For a long time. A really long time. My father-in-law, not one to beat around the bush, questioned the doctor on the intensity of her exam. This pediatrician, whom I had never met before, looked at him and said, “Well you know the baby has Down syndrome, right?”

I remember it slightly different. I thought she said, “We think the baby has Down syndrome”, but Mark and his parents agree on the original version so that’s what we’ll go with.

Mark responded with “Excuse me?”, to which Dr. Bedside Manner replied with, “Are you the baby’s father?”.

I am sure there is a lawsuit in there somewhere, but when it was relevant, I didn’t have any fight left in me. Needless to say, this woman is NOT my pediatrician.

“Well, you know the baby has Down syndrome, right?”

No. I didn’t.

I had always heard the expression “all the air left the room”. I had never felt it until that moment. It left the room. It left my lungs. It was as if someone had physically punched me in the gut. I was shocked. But given our scare way back in February, I wasn’t necessarily surprised. I wonder sometimes if that made it easier. That little non-warning.

The doctor then preceded to show us all the physical characteristics that led them to the conclusion that Lucy had Down syndrome. After she left, we preceded to explain them all away. Her almond shaped eyes, well, Mark’s family has almond shaped eyes. The small, low set ears, well, I have really tiny ears and I have always felt they were a little low. The slight curvature of her pinky, well, I have a good friend whose pinkies are slightly curved and she most certainly doesn’t have Down syndrome. We’ll wait for the karyotype to come in, but we’re pretty sure they’re mistaken.

But, later that night, when everyone else was gone and it was just me and Lucy, I unswaddled her. I looked at her feet. I could not explain away that gap between her toes. And in my heart I knew, though I wouldn’t admit that I knew until the next day when her new cardiologist told me that she had a heart defect and would require open heart surgery within the first year of life. When he walked out, Mark and I both admitted we didn’t need to wait for the karyotype any longer.

When she was two days old, we took her home. Knowing what I know now, about how many babies with Down syndrome spend time in the NICU, I feel tremendously blessed. We took her home, relatively healthy, and began the long process of rebuilding our reality.

Contributed by Courtney at Mutterings and Musings