Jennie: Happily Ever Elizabeth... the Augusta toddler living with Caudal Regression Syndrome

Posted: Sep 4, 2018 / 04:55 PM EDT

Updated: Oct 1, 2018 / 03:20 PM EDT

We’re devoting this entire half hour to the story of a little miracle baby here in Augusta named Elizabeth. She was born with a rare condition called caudal regression. It occurs once in about 100,000 newborns. Elizabeth also has a heart disorder associated with caudal regression. Caudal regression syndrome is characterized by abnormal development of the lower spine of the developing fetus. It impairs the lower half of the body and can cause abnormal development in certain organs, the rectum and anus and leg joints and bones. This disorder commonly appears in infants who are born to mothers with diabetes, in which it affects approximately one in 350 newborns. There’s also a clear interrelation with insulin-dependent diabetes in mothers. It’s statistics like those that led little Elizabeth’s mom and grandmother to a national talk show last year.

Samantha Stamatakis joins me now, and Samantha, that was a really dark time for you and for your mom, and we are not going to revisit that. But I wonder if you can hear what Krystina is saying now, through a mother’s heart, now that you have a baby.

” I can. Back then, I wanted to be like everybody else. I wanted to be that normal teenager. I wanted to not have to worry about this disease that I was given. And when I found out I was pregnant, I do admit that I wasn’t taking care of myself like I should have and I wasn’t listening to doctors. I just didn’t want to listen to anybody. And it wasn’t ’til I was six months pregnant that I did find out that my daughter was going to be born with a rare disability.”

Doctor Rebecca Pierce specializes in pediatrics and adolescent medicine at AU Health and the Children’s Hospital of Georgia. She has watched Elizabeth’s physical and cognitive growth since the beginning. Dr. Pierce thank you for being here, and let’s point out that caudal regression syndrome occurs sporadically, meaning that people with no background of the condition in their family can have it.

“Correct, it can come on in any generation with no family history, but it is more common in mothers who have diabetes. So we know that Elizabeth has caudal regression or sacral agenesis, so her spinal cord and column did not form all the way. So she has the first part of the cervical spine and she has her thoracic spine, but starting at the lumbar spine, so kind of the lower back, she has the first L1 bone that’s kind of small and didn’t form correctly, and then the rest of the bones just didn’t form.”

Trendz Salon’s 10th annual cut-a-thon is set for Sunday, September 30th from 10am – 5pm.

“Happily Ever Elizabeth” will be a family fun day, with free haircuts, polish changes, and free lunch!

A bouncy house and face painting will be set up. Owner Robyn Kelley says while the services are free, the staff asks that you donate what you feel led to give.

ALL the money raised goes directly to the family of 15-month-old Elizabeth Stamatakis, who has caudal regression syndrome. It impairs the development of the lower part of the body, including leg joints and bones that may be misshapen or non-existent, certain organs, and rectum/anus.