Child Maintains Spirit While Fighting Rare Disease
FAYETTEVILLE, PA – From a distance, Juliana Shubert looks like a typical child. She loves a good game of “go fish” and she can’t get enough candy. Julie often breaks into song, belting out an 80’s classic or any number of selections by Imagine Dragons, her favorite group.
But there’s much more to Juliana than meets the eye.
“People would ask, ‘What’s wrong with her?’ Well, there’s nothing ‘wrong’ with her. I mean, what’s ‘wrong’ with you?” said Karen Shubert, Julie’s Mother.
When Juliana was born, she seemed like a healthy baby girl, but in less than a month her parents sensed something was wrong. Julie was crying more often than a healthy newborn.
“She would have episodes where she would scream and scream, and her body would contort,” said Mrs. Shubert.
A search for answers found more problems.
“We were actually in-patient at Hershey [Medical Center] and she was getting a brain MRI and a colonoscopy and endoscopy and all this stuff to try to figure out what was wrong,” said Mrs. Shubert. “We took her for a walk and she had a seizure in the hallway.”
After dozens of consultations with medical professionals, Julie was diagnosed with Alternating Hemiplegia of Childhood, a disease affecting one child in a million. This disease is characterized by painful episodes of paralysis affecting one or both sides of the body for an unpredictable amount of time.
“Sometimes Julie will say, ‘My arm is asleep,'” said Mrs. Shubert. “But her arm can stay asleep for five days.”
Doctors have difficulty diagnosing children with AHC. In-between episodes, AHC children look normal. Each AHC patient comes with a different set of symptoms
AHC is often associated with Dystonia, the straightening or contortion of limbs. Julie has bouts of Dystonia almost daily. Many AHC patients are also Epileptic, Juliana’s is severe.
“Juliana has what are called status grandma seizures,” said Mrs. Shubert. “They don’t stop, and they don’t stop with drugs often.”
Julie takes roughly 28 medications regimented throughout each day. AHC patients often take seizure medications to combat the symptoms, but they’re not suffering from seizure episodes, it’s something different.
In 2012, researchers discovered the gene causing AHC. The mutation of this gene causes a protein in the body to malfunction, thus creating the violent attacks AHC kids endure.
“Sometimes Julie will say, ‘My arm is asleep,’ but her arm can stay asleep for five days.” – Karen Shubert, Julie’s Mother
Large pharmaceutical companies are unwilling to fund extensive research about AHC because it’s so rare. Most research is funded by parents of AHC kids.
Doctors believe discovering the cure for the protein that malfunctions in the body of AHC patients could help those with Epilepsy and other disorders that do not encompass all the symptoms AHC patients face.
Juliana just wants to be a normal kid. Shannon Shields, Julie’s former kindergarten teacher saw it first hand.
“She went through her day as though nothing was wrong,” said Shields. “Nothing was different, she was doing what kindergarteners do.”
“She’ll verbalize, ‘I want to go swimming like the other kids do,’ or, ‘I don’t want to have your help all the time,” said Mrs. Shubert.
But until better treatments come along, Juliana will live at risk. Julie is often in the hospital because of the frequency and unpredictability of her attacks. She must avoid conditions known to make her vulnerable to episodes.
“Heat is a huge trigger for her, and not getting enough sleep,” said Mrs. Shubert. “It’s a vicious cycle.”
“She inspires me a lot, even two years after she’s left my classroom.” – Shannon Shields, Julie’s kindergarten teacher
Mrs. Shubert is optimistic about Julie’s future, yet she understands the fragility accompanying those with AHC.
“We still see her grow, so we try to hold onto those things, but the reality is that in an hour things could change,” said Mrs. Shubert.
Julie’s parents and teachers are inspired by her will.
“I think of little Julie, she doesn’t complain about it, she just goes and keeps trucking,” said Sheilds. “She inspires me a lot, even two years after she’s left my classroom.”
“You could be bitter all the time, but then you look at her,” said Mrs. Shubert. “She’s in pain every day, she can’t do things we want to do and things we take for granted, yet she had fun and she likes to sing and she likes to play and she likes Santa Claus and Mickey Mouse and she’s happy. So if she can get through that and do all of that, who am I to get frustrated over something so trivial?
Life with AHC: Juliana’s Story
Hear the full interview with Karen Shubert as she talks about her daughter’s journey.
Life with AHC: Raising Awareness
Find out how Julie has adjusted to life at School and hear her Mom’s hope for the future.
Life with AHC: An Inside Look
Catch a glimpse of Julie’s infectious spirit