The Most Treasured Gift- Lorelai’s Diagnosis Story

I sat on the crinkly paper covering the exam table in the ultrasound room, my husband Jonathan
within arm’s reach in a chair next to me. I ran my hands over my belly, excited to soon see my baby
wiggling on screen, but nervous for what the doctors might find. We were in the perinatal unit of
the hospital to get a high-powered ultrasound that day. And unknown to us, we would also hear our
baby’s diagnosis for the first time.

Diagnosis Day was a completely foreign concept to me. I’d never even heard the term before
experiencing my own. Getting any diagnosis for your unborn child is a terrifying experience, full of
what-ifs and unknowns. A Down syndrome diagnosis is no different.
Diagnosis Day was one of the scariest and most painful days of my life.

At 12 weeks pregnant, I got the standard litany of blood tests. The fear started as a tickle when a
nurse called to go over the results. The chances for a genetic disorder had jumped into a range that
was mildly concerning. I still remember her saying, “It’s not great, but it’s not bad.” We only had to
wait a few days before the ultrasound, which they scheduled to get a better look at things. But the
nurse assured me that it was simply to rule out the worst possibilities.

Something was wrong at the ultrasound. The tech grew unusually quiet and serious. I’d had this
experience just a few months prior. I was pregnant for the first time and went in for a dating
ultrasound with Jonathan by my side. The silence in the room was deafening, and after long
minutes, the tech told us with sadness that our baby had no heartbeat. After experiencing that
devastation, it was hard to know at this appointment whether to delight in every image and
movement we saw on the screen or to wait in dread for what the doctor would tell us.

As soon as the doctor came in, my heart sank. He told us how sorry he was, but the ultrasound
showed a cystic hygroma and an absent nasal bone that raised the chances of Down syndrome to 1
in 4.

Our hearts shattered, and we cried, our world crumbling around us. Our baby had Down syndrome.
The doctor’s sorrow made the diagnosis feel so dire, like the worst possible news, and we believed
that it was. A few minutes later, we talked with a genetic counselor over the phone, and her tone
was as sorrowful as the doctor’s. This was bad.

The doctor presented us with two options to confirm the diagnosis. An amniocentesis is the only
sure prenatal diagnostic test for Trisomy 21, but for us the risks outweighed the benefit of knowing
with certainty. We opted for the Harmony blood screening, and the lab tech drew my blood while I
clung to the shred of hope I still had that the doctor was wrong. But in my heart, I knew that he
wasn’t. Our baby had Down syndrome.

We went home and wept. We wept for the loss of the baby we thought we would bear, for the loss of
the future we had planned, and in fear of the future we thought was certain. We were convinced our
future would be one of caring for a child whose disabilities would end our lives as we knew them
and make us slaves to the everyday tasks of living with disabilities. We wept for the things our child
wouldn’t get to do, the person she wouldn’t be, the dependent adult we imagined would be left all
alone with no one to care for her when we died. The grief washed over us in waves.

We spent the evening looking up stories of Diagnosis Days. Jonathan read aloud story after story. All
unique, but they had the same things in common. Everyone experienced grief at the news, but every
parent spoke of how wrong they were that day, that what life was really like with a child with Down
syndrome was so different from what they feared. To our surprise, we kept reading how normal
their lives were. Yes, there were more appointments and therapies and milestones that were slower
to reach. But there was joy. So much joy. Their children with this dire diagnosis were lovely and
delightful and important members of the family, just like any other child.

These stories buoyed our spirits, yet our hearts refused to be comforted. Yes, these families loved
their children and their lives were good, but that’s not the life we wanted. How selfish it feels to
write these words now, but they’re true. It’s the mantra that played in my head over and over. This
is not what I want.

Jonathan and I are surrounded by an amazing community of friends and family. Going through
something this painful and scary, it’s tempting to withdraw, to shut people out, to try and deal with
it on your own. But in my experience, life is better lived by facing the scary things with people who
love you by your side. Our pastor came over to sit with us and listen to us process. The ability to
speak the dark and scary things without judgement is incredibly freeing and healing. That was a
great gift.

The next day we had an in-person appointment with a genetic counselor named Mary, something
I’d recommend as a necessity for anyone who receives a prenatal diagnosis. Mary was kind and
calm and knowledgeable. She gave us the facts we needed, along with sympathy, and she listened to
us. She passed no judgement on where we were at in our process. In fact, Mary was a lot like a
pastor. We had no idea how much better we’d feel after talking with her, but it made a huge
difference in our spirits that day.

Over the next few days we alternated between spending time just the two of us and spending time
with close friends and family. We even paid a visit to our marriage counselor, Pat. Not one person
spoke anything negative to us. In fact, every person told us how loved our daughter would be and
what a gift she would be to us and our community. The overwhelming haze of grief and fear began
to clear, and we found our strength again. We could do this.

That’s not to say we didn’t still grieve. We had a specific picture of our lives and our baby, and Down
syndrome wasn’t part of that. When the Harmony test results came back positive, we could no
longer deny that Down syndrome would be part of our story. We had to grieve the loss of that life
and that “healthy” baby. We allowed ourselves to feel whatever we were feeling in each moment
and grieved our hearts out. I’m thankful we had a prenatal diagnosis for this reason. We had the
space to grieve so that by the time our daughter was born, we could simply delight in the joy of her
arrival. And it gave me time to research and plan, which helped me wrap my head around how our
lives might look, since I didn’t personally know anyone with Down syndrome.

Now let me take a moment to address an elephant in our story. The day we received the Down
syndrome diagnosis, we considered all of our options. In the midst of the fear and confusion, all we
could picture was a dire future. The positives we read in other stories didn’t seem possible. We
imagined the worst: a child with the most severe of disabilities, completely dependent on us
through adulthood and then left all alone when we died. We seriously wondered whether this was
something we could do.

As ashamed as I am to say it now, I didn’t think I could. I thought that
ending the pregnancy might be for the best. Imagining continuing the pregnancy wracked me with
grief, as did imagining terminating it. I felt like I was in an impossible situation with only two
terrible options. All I wanted was the third option of a healthy child.

I cry now thinking about how I could have missed out on life with my precious Lorelai. That I could
have let fear win and not experience the amazing joy our daughter brings to our lives. And it was
our community surrounding us with love and support that helped us see how our fear was lying to
us. It only took one day to realize that saying yes to our little girl was the right choice. She belonged
in our family, diagnosis or no diagnosis.

I am so thankful we didn’t give in to our fears. Lorelai is smart, brave, hilarious, determined,
spunky, opinionated, gorgeous, and the sweetest little girl with an incredibly loving heart. Imagine
if my fear of Down syndrome had caused me to miss all that?
I look back on Diagnosis Day and wonder how I could have ever been so sad. Lorelai couldn’t be
more perfect. In fact, I think her extra chromosome is what makes her so perfect. And to think I was
scared of that extra chromosome. I often wish I could go back and tell myself not to be scared or sad
or worry about Lorelai. But that was all part of my process, and I had to go through the grief to get
to the joy.

Lorelai just turned a year old. At five months old, she had open heart surgery to correct a complete
atrioventricular canal defect, and her heart is now strong and healthy. She’s a social butterfly, gives
the best hugs, makes friends with everyone, and loves to laugh. She goes to daycare during the week
and flourishes with her typical peers and teachers who love her. She has a wonderful occupational
therapist, Caity, who works with her an hour each week at daycare. So far Lorelai has met all of her
developmental milestones, but she’s still working toward crawling. Her slightly lower muscle tone
means she has to work harder on gross motor skills. But I’m not worried about her development.
She’s bright, clever, and a hard worker. She’ll get there in her own time. And I wouldn’t miss a
minute of it. Lorelai is our greatest gift, and I’ll forever be grateful that she chose us to be her family

Camille lives in Portland, Oregon, with her entrepreneur husband Jonathan, Jack Russell pup Penny, and their most treasured gift, Lorelai, who just happens to have an extra 21st chromosome. Camille works in the nonprofit sector, writes paranormal and urban fantasy for fun, volunteers with high schoolers, and loves Disneyland and Buffy the Vampire Slayer with a passion bordering on the obsessive. Down syndrome is a journey she never expected, but one that has opened her heart and mind to the beauty of diversity, the power of inclusion, and the value of all people, regardless of ability.  Follow the family on Instagram @disneyboundanddown