Monday, May 4, 2015

1 in 50,000

When Olivia was diagnosed with 5p- syndrome, the doctor who diagnosed her told us that only one in fifty thousand babies are born with this syndrome.

She asked us to consider how many people fifty thousand people were. Do we even know fifty thousand people?

This week is 5p- Syndrome Awareness week. The 5p- Society is trying to raise awareness for this rare syndrome.

Babies born with 5p- typically have a cat-like cry, which is where the name Cri du Chat comes from, which is another name for 5p- syndrome.

Olivia had that cat-like cry as a newborn. Her cry was so distinct that other parents with babies in the NICU would see me at another part of the hospital and tell me that while they’d been in the NICU with their own babies they’d heard my baby crying.

We were at Walmart one afternoon after Olivia had been released from the NICU and were in the baby department. Olivia was crying (she was pretty much always crying in those early months) and as we turned a corner, we saw another mom from the support group we attended on Tuesday mornings. She was with her own mother and she looked at her mom and smiled, “I told you I knew the baby that was making that sound.”

Yeah, she was very well known for her cry.

Olivia also had the reflux that is often found in babies with 5p- syndrome. It wasn’t until she was four months old that her doctors finally believed that she was crying more than the average baby. By then she’d started coughing a dry cough. We were given a prescription for Zantac and it changed our lives. Within two weeks of being on the medication, Olivia gained some weight and stopped crying. She would let us put her down, she didn’t spit up after every feeding, she slept better and she finally started growing.

But while the Zantac soothed her reflux, it didn’t help her reach other milestones, like holding up her head or sitting up unassisted.

Olivia was globally delayed. But still, even at nine months old, her doctor refused to even consider the possibility of 5p- syndrome. She was ‘too pretty’ he said. Which is insulting to all the beautiful children with 5p- out there.

I confess to a sense of relief when her doctor at Riley Hospital for Children finally gave us the diagnosis of 5p- syndrome. Olivia was two years and three months old. She started walking two months later. She started talking six months after that.

Her doctor gave us amazing advice. She said to take our baby home and love her. To let her show us what she could do. She said that Olivia was capable of so much more than most researchers would ever believe because all the research was based on children who’d been institutionalized since birth. Olivia had the benefit of a loving home, an older, typical sister who would show her amazing things and make her want to do them too.

To be honest, 5p- syndrome doesn’t really enter our minds all that much these days. Olivia is eight years old, in first grade, she runs, she reads, she talked in paragraphs. She’s got an amazing sense of humor and an imagination that doesn’t quit. She is not on any medications at all. She’s being watched for scoliosis but so far shows no signs of that.

The only time I really think about 5p- syndrome is when she’s chasing her sister, or helping her dad in the garden and I realize how much she amazed me, how far she’s come, how lucky we are that she’s here, with us, every single day.

Picture evidence of how far she's come:

Olivia modeling matching outfits with her favorite doll, Meredith and handwarmers I made because she found some in the American Girl catalog and HAD to have some.


Julie said...

She is such an amazing girl and doesn't let that pesky 5th chromosome define her!

Belle said...

I needed to read this today as we await genetic testing into our sweet Sabine. It makes me so happy to know that your daughter does not just survive, she thrives, and that she continues to amaze doctors. Thank you for sharing your story. I am sure it has helped many other moms in the throws of Google searching. xoxo