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I didn't want to be 'that mom'

Emma Sibit poses with her family. Emma suffers from a rare condition called pyridoxine dependent epilepsy. Her mother, Jennifer Sibit, is trying to add PDE to the National Newborn Screening Test. (Courtesy photo)

Emma Sibit (right) poses with her sister Reagan, father, Sean and mother, Jennifer. Emma suffers from a rare condition called pyridoxine dependent epilepsy. Her mother, Jennifer Sibit, is trying to add PDE to the National Newborn Screening Test. (Courtesy photo)

SCHRIEVER AIR FORCE BASE, Colo. -- "Something just wasn't right."

This was the thought that consumed Jennifer Sibit, 50th Space Communications Squadron deputy flight chief, nearly three years ago just days after giving birth.

As she recalled every minute detail of her daughter's story, tears began streaming down Sibit's face. She has probably told it more than a dozen times, and each one is just as impactful as the other. Emma is her 2-and-a-half year old "sweet and sassy" daughter whose journey has given her a new purpose in life.

"She was squeezing her fist and turning red," said Sibit. "She just wasn't acting herself, and in hindsight, she was probably having a seizure. But I wasn't trained to know what a newborn seizure looks like."

Sibit described Emma's behavior as if it was yesterday. She had noticed within the short amount of time she had spent with her that she wasn't crying, eating or sleeping as she should have been. She was afraid her new-parent stigma was the driving force of her concerns.

"I remember going to change her clothes, keeping in mind that newborns despise having their clothes changed, and she just laid there almost lifeless," she said. "That was the final straw. I knew I had to take her to the hospital immediately."

Upon admittance to the emergency room, Emma was immediately evaluated by what seemed to be the entire medical staff. They seemed bewildered by her symptoms.

"Her blood sugar levels were at a 16, which equated to a coma," said Sibit. "The doctors immediately took her away and I was terrified. Emma was no longer crying and I didn't realize how much I missed her cry until she was silent."

As she stood there alone in disbelief, Sibit called her husband and explained to him as best she could that he needed to come quickly. It was serious. The rest, she said, was a blur. They treated Emma with anticonvulsants for days while attempting to halt her seizures and properly diagnose her. But, the damage had already been done.

Ultimately, Emma, at only 12 days of life, was diagnosed with pyridoxine dependent epilepsy. PDE involves seizures beginning in infancy or in some cases before birth. The seizures involve muscle rigidity, convulsions, and loss of consciousness. Nearly 200 cases have been reported worldwide including Emma's. Her rare condition is currently not tested at birth. Sibit is determined to change that.

According to the Centers for Disease Control and Prevention, all babies are screened even if they appear to be healthy because some medical conditions cannot be seen by the naked eye. Each state runs its own newborn screening program, but these tests can prevent some serious problems, such as brain damage or even death.

"If this condition would've been tested for, we could've avoided all of it," she said. "She will never outgrow it, but it is easily treated."

A highly restrictive diet, medicated formula, prescriptions and supplements all comprise Emma's triple therapy approach. Since her diagnosis, Emma has undergone more than 44 blood draws, six spinal taps, eight electroencephalograms and multiple magnetic resonance imagings.

More than two years after the days that drastically changed the Sibit's lives forever, MRI's have indicated Emma suffered brain damage during those initial seizures.

"She has delayed gross motor skills," said Sibit. "Otherwise, she is a typical toddler. She is loving, energetic, caring and rambunctious."

Sibit said she appreciates things much differently since having Emma. Normal things other families take for granted like eating out, they will never be able to do.

"It seems silly but Emma will never be able to eat chicken nuggets or even a slice of pizza," she said. "I have to pack all of her meals for daycare, and when we leave the house, I always take a cooler with her supplies."

However, Emma's unique situation is paving the way for PDE research and treatment by participating in studies.

Meanwhile, Sibit has made it her goal to spread awareness about PDE. She works directly with the team that treats Emma at the University of Colorado by fundraising and determining funding allocations. They have recently developed a method for testing for PDE. Currently, they are in the process of testing the method to have it added to the Colorado Newborn Screening Test.

"Emma is the reason I am so adamant about this cause," said Sibit. "If I could prevent one family from going through this, then it will all be worth it."

It's important to trust our instincts as parents, reiterated Sibit.

She said, "You know your kid better than anyone else. It's OK to disagree with doctors even if it means you are that mom or parent."

A "Pounding the Pavement for Pyridoxine Dependant Epilepsy 5K" is scheduled 9 a.m. Sept. 21 at Cottonwood Creek Park. All money will be donated to the University of Colorado for PDE research. For more information please visit www.active.com/colorado-springs-co/running/distance-running-races/2nd-annual-pounding-the-pavement-for-pyridoxine-dependent-epilepsy-colorado-springs-2014 
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