Conshohocken Infant Diagnosed with Rare Genetic Disorder
Friends, family, and strangers from across globe show support on Facebook page.
When Julianna Armstrong was born last May, a loving family awaited. Parents Chris and Holly, and big brothers Chris, Jr. and Tyler, welcomed the 6-pound, 15-ounce newborn into the world.
For the first three months, things went as well as expected. The family brought Julianna back to their Conshohocken home, and anxiously waited to start checking off the list of "firsts" that comes with any newborn.
But by the time Julianna was three months old, it was apparent something was wrong.
"She would cry for several hours at a time," says Holly McArdle, Julianna's mother and a lifetime Conshohocken resident. "We knew something was wrong, but had no idea what."
Julianna was taken to the emergency room at Montgomery Hospital, where she was diagnosed with acid reflux and prescribed Zantac. When there was no change, the family followed up with their regular pediatrician, who disagreed with the acid reflux diagnosis and recommended stopping the Zantac medication.
Looking for answers, the family went to Bryn Mawr hospital for a second opinion, where doctors ordered an ultrasound and X-rays of Julianna's stomach. The results came back similar to the first diagnosis: acid reflux, bad gas, an allergy to cow's milk, and a recommended prescription for Zantac.
Again, no improvement. This time, the family was able to videotape Julianna having what appeared to be a seizure, and returned to Bryn Mawr hospital.
"At this point she was having more frequent seizures and the ER staff had seen them firsthand," says McArdle. "The ER doctor contacted CHOP and they advised on how to stabilize her with a seizure medicine."
That same day, Julianna was transported and admitted to CHOP for a litany of brain and genetic testing, and a diagnosis of infantile spasms followed. Treatment with a neurologist began, until the results of the genetic testing came back on November 13; Julianna was suffering from an extremely rare genetic disorder called "Aicardi Syndrome."
Only a few thousand known cases of Aicardi Syndrome exist worldwide, with about 900 in the United States. Although there is still much to be learned about the disorder, researchers believe it is caused by a defect in the X chromosome, as it only affects girls in all but a few cases. The disorder causes the complete or partial absence of something called the corpus callosum, a structure that connects the two sides of the brain.
The disorder causes seizures, impaired physical or mental development, and gastrointestinal issues. Studies into life expectancy show varied results, finding an average age of survival at about eight years, but a median age of 18 years and cases of individuals living into their 30s or 40s. Dependency on others, such as the ability to speak or walk, also varies depending on the severity of the disorder.
But for their part, all that Holly and Chris, Sr. can do is get Julianna the best possible treatment.
"She is currently receiving occupational therapy through PA Early Intervention," says McArdle. "They show us different techniques to help strengthen her head control, and how to assist in helping her to roll over and grab toys."
Julianna is also on anti-seizure medication and is scheduled to start something called the "Ketogenic Diet," a high-fat, low-carbohydrate diet that helps prevent seizures. But times are tough for the family. Constant doctor visits, lost paperwork, and busy lifestyles add to the stress.
"It has been a challenge to balance a full-time job, doctor visits, and hospital stays," says McArdle. "I feel like I want to be at every single appointment, but I know I can't because I will run out of vacation time quickly. I can't afford to take days off unpaid."
But the family has a new support system. Last month, McArdle launched "Julianna's Journey," a Facebook page dedicated to documenting Julianna’s treatment.
"I have a big family so it was an easy way to post and let everyone know together," says McArdle. "I also created the page to bring awareness for this rare genetic disorder. If her story can help another family going through the same thing we have, it would make me happy to know we helped in some way."
It appears to be working. The page has grown quickly, with over 1,300 followers by mid-December, some as far away as Oregon, the United Kingdom, and even Australia.
"Never forget you are never alone," wrote a woman from Minnesota. "Relearning to live with Aicardi is not always easy, but it is the most rewarding thing life has given us… just know you now have a very large extended family who walk this crazy life with you."
"I am crying as I read this," wrote one family member. "I know you are doing all that you can do for Jules. We both love all of you, are here for you, and always will be."
McArdle invites anyone who wants to show their support for Julianna to join the page and share it with others to help raise awareness of the disorder. Anyone wishing to directly help Julianna or her family can e-mail Holly McArdle at Holly_McArdle@yahoo.com.
"I feel so overwhelmed with all the love and support my family, friends, and the community has given us," says McArdle. "I cry when I read some of the posts people have left, because they send messages of hope, faith, and prayer. It's just beautiful."
- Click here to visit and join the "Julianna's Journey" Facebook page.
- Click here to visit the Aicardi Syndrome Foundation website, which accepts donations.