I’m beginning to share Savannah Hope’s Journey through our recent in utero diagnosis. It all begins when a routine ultrasound takes a dramatic turn.

March 15, 2014

I will never forget that phone call on January 14, 2014 from our genetics counselor.  We were scheduled for our routine 19 week ultrasound to measure baby’s organs and find out the sex.  For any mother, it’s a momentous time full of joy and happiness. All your countless worries and fears about growth and development are generally put to ease. The day before our scheduled ultrasound, the phone rings.  That call changed our lives forever.

‘ According to state tests, baby has a 2% chance of having down syndrome.  You have been red flagged.’

Red flagged? Immediately my heart sunk inside my chest.  After speaking to my sister, I was partly at ease. 2%? That means I have a 98% chance of baby not having down syndrome.  I figured my age played a role in that 2%.

Our scheduled ultrasound immediately went from level 1 to a level 2 ultrasound. The following day we held our breath and waited while the technician scanned, and scanned, and scanned.

Savannah Hope, 19 Weeks

It was a bit alarming to us that she was focusing so much on the heart.  After 2 hours with no diagnosis, countless tears and examining, I finally asked for some answers. The technician couldn’t tell us anything, but she did say that she saw ‘something.’ The perinatologist came into the room, consulted with the radiology technician, then delivered the diagnosis.

‘According to the ultrasound, there are no visible signs of down syndrome based on measurements and other factors.’

Great news! But, it wasn’t over. She looked at us with such sadness in her eyes. I knew something wasn’t right.  My heart clinched and my tummy quivered as she delivered a shocking new diagnosis.

‘Your baby has a life-threatening birth defect of the diaphragm called CDH, congenital diaphragmatic hernia.  She has a 50/50 chance of survival.’

We were in complete shock.  Instantly I thought … what is CDH? Will she survive? Did I do something wrong? Is it genetic?

She immediately recommended an amniocentesis, which I was so against because of the slight risk of miscarriage.  We lost our previous child, Talan Cole at 16 weeks, so I didn’t want to take any chances. But, there was no other option.

I’ll never forget the moment that cold needle pierced my soft skin – tears rolled down my cheek. I squeezed Nick’s hand so tight and cried.

Savannah Hope, 19 Weeks – Stomach Inside Chest

Severe CHD is determined when the contents of the abdomen are in the chest or ‘liver-up.’ It affects about one in every 2,500 live births per year.  The black mass in her chest is her stomach pressing against her heart.  Oh, our sweet a baby girl!? Our routine ultrasound went from a moment of joyous celebration to the scariest moment of our lives.

After waiting 10 days, our amniocentesis came back with no chromosomal anomalies or down syndrome.  We immediately felt joy again. If she had down syndrome, survivability would almost be 0%.  So, we were over one hurdle and onto the next, the heart.  They needed to rule out any heart anomalies with an echocardiogram.  Babies with CDH typically have other chromosomal anomalies, especially with the heart.

The perinatologist mentioned an research-based surgery at UCSF Fetal Center called tracheal occlusion. UCSF has received approval ‘an investigational device exemption to use a new medical device for tracheal occlusion in severe CDH patients.’

Later I learned they’re the pioneers of CDH research and according to many, the best in the country, some say the world.  It just so happens that we’re fortunate enough to live here, so Nick and I were at least interested in hearing what they had to say.  If anything, it was a second opinion from top specialists.

In order to determine eligibility, UCSF needed to conduct all their own tests: level 2 ultrasound, echocardiogram, blood work, and counseling.  After 7 hours of testing at the fetal treatment center, we were astonished at their findings. ♥

Next Entry

UCSF Fetal Treatment Diagnosis: Are We A Candidate for Tracheal Occlusion? (March 17)

Thank you for reading and being a part our journey.  We are grateful for your support. To share inspiring photos and positive thoughts and prayers, please visit Savannah Hope’s Facebook Page.