Little-known syndrome nearly stole her 2-month-old daughter's life
Julie Jancius was startled when her sister-in-law woke her late one night. Something was wrong with Ellie. Julie and her husband Blake rushed downstairs and saw their 2-month-old daughter gasping for air.
Her tiny body was heaving, and a high-pitched sound came with each difficult breath. Julie and Blake thought it was another of Ellie's episodes where she turns blue. The Wheaton parents grabbed their iPod Touch and started filming; doctors had suggested that would help them figure out what was wrong with their daughter. Soon, they had to put the camera down. Ellie stopped breathing. As Blake rushed to call 911, Julie helplessly cradled Ellie's lifeless body.
“I had never been around anybody, let alone hold my own baby in my arms, that just had no life to her whatsoever,” Julie said. “And I shook her arms, and I shook her legs, and I can't even describe that feeling, but you just know she was gone. And I started praying and begging God, just in that moment to let me have another chance with her.”
A second chance
Julie's prayer was answered when the paramedics arrived and revived Ellie. She was transported to Children's Memorial Hospital, hooked up to a ventilator and stayed there for more than two weeks.
Doctors at Children's looked into not only Ellie's breathing episode, but also severe gastrointestinal issues and other major medical issues in Ellie's young body. The Janciuses learned their daughter stopped breathing because her vocal chords seized up in a spasm and blocked the flow of air into her lungs. And, they learned doctors suspected Ellie might have Noonan Syndrome.
Three months later, results from genetic testing confirmed the doctors' suspicions. Ellie has Noonan Syndrome.
Now 15 months old, Ellie spent most of her first year in and out of the pediatric intensive care unit. She has 14 secondary conditions from the syndrome, each treated by a separate doctor. People with NS are predisposed to cancer and may have heart abnormalities, feeding difficulties, neurological problems, short stature, require special education and more.
NS is common and reported to occur in between 1 in 1,000 and 1 in 2,500 persons. Noonan Syndrome is included in a larger grouping of genetically related syndromes called the RASopathies, which also includes Costello Syndrome, Neurofibromatosis Type 1 and more.
While her child was fighting to stay alive, Julie scoured the Internet for hundreds of hours looking for information regarding NS and Ellie's 14 secondary conditions.
It was then that Julie decided she needed to do everything possible to help those affected by NS and other RASopathies.
“There are children who pass away, multiple children every year, from RASopathies,” Julie said. “I'm just so grateful that I have my little girl. I'm so grateful that I have a second chance. I think having such a traumatic experience like that also made me realize I can't not do something.”
Julie recently launched the RASopathies Foundation to increase awareness about the RASopathies. The foundation is dedicated to finding cures, and treatments for RASopathy-related diseases and syndromes by raising money for research and by pairing researchers with parents to obtain samples for their studies. The foundation's website, teamrasopathies.org, helps parents understand what the RASopathies are, and has information about each syndrome, support groups and research.
Scared of the unknown
Besides running the foundation, Julie spends most of her days tending to Ellie, who has one appointment weekly with each of her physical, occupational and speech therapists, nutritionist and social worker.
Because Ellie has severe gastrointestinal issues, the only thing she can take by mouth is water. Julie and Blake give their daughter food through a bolus feed connected to Ellie's stomach. After each feeding, she usually retches. Julie and Blake vent the device about six times a day to stop Ellie's retching and to help her burp.
“A lot of doctors say she's got a very mild case,” Blake said. “If this is mild, I can't imagine if it was full blown. The families we ran into at the PICU, they would trade places with us in a second to have just her conditions. That's why Julie is starting this foundation. If this is mild, my goodness.”
Kelly Ottensmeier of Highland Park knows how hard it can be for parents and their children who have NS. Her son, Drew, 2, was diagnosed with NS when he was 6 months old. Since then, he's had six surgeries, including heart surgery to put a patch on his deformed pulmonary valve. Drew also has holes in his heart that are caused by a heart defect.
It was hard for Ottensmeier to see her son have so many surgeries, but she found solace in an NS Facebook support group, which is how she met Julie.
“I'll ask a question and there will be 30 moms that will respond in a matter of five minutes,” Ottensmeier said. “To have all these people that are supporting you is very helpful. There's knowledge, experience, and compassion. The most simple way to put it is you're talking to people who actually get it.”
Katie Thorstenson of Wauconda also met Julie through the Facebook group.
Thorstenson found out through genetic testing 19 weeks into her pregnancy that her now 2-month-old son, Drew, has NS. The doctors suggested the genetic testing because they found a cystic hygroma, which was a fluid-filled growth around Drew's brain and back.
“Initially I was completely scared of the unknown,” Thorstenson said. “I'd never heard of Noonan Syndrome and not one person I knew had ever heard of it, which made the diagnosis that much scarier. I did a lot of ‘Dr. Google' and honestly it was petrifying to see all the possibilities of what could happen to my child.”
Drew has a mild form of pulmonary valve stenosis, which is a congenital heart defect found in 20 to 50 percent of individuals with NS. Thorstenson said she is mainly concerned about the two holes in Drew's heart that haven't closed.
Besides worrying about their children's medical problems, parents of children with NS also have a looming possibility — cancer.
RASopathies are genetic syndromes that have mutations in genes of a pathway that is important in cancer. Thus, children with the RASopathies have an increased risk for developing cancer, according to Dr. Katherine Rauen, who coined the term RASopathies. She is the director of the NF/Ras Pathway Clinic at the University of California at San Francisco.
“It's kind of a wait-and-see thing with cancer,” Julie said. “When you have a syndrome, things can be really good for awhile and then they can take a turn. In the cases of a few friends that we know, their children got cancer around the age of 3 or 4, and with everything else going on with their bodies they couldn't beat it and they lost them. Which just breaks your heart.”
Autism, cancer research
Instead of dwelling on the what-ifs, Julie is focusing on the discoveries being made, which may help not only people with RASopathies, but the general population as well.
For example, Dr. Lauren Weiss, an autism researcher at UCSF, said studying the variation of people with RASopathies who have autism traits and those who do not could help scientists better understand the variation and develop treatments for autism.
Children with NS are at a higher risk for developing juvenile myelomonocytic leukemia, according to a Nature Genetics journal article. However, the survival rate for children diagnosed with both JMML and a RASopathy syndrome is significantly higher than children with JMML alone. If doctors can identify the reason, they might be able to create a treatment for the general population that would save lives.
‘She's the one for me'
Even though coping with their daughter's medical conditions has been difficult at times, Julie and Blake are thankful for insurance, doctors, family, friends and the community who helped them. The foundation Julie is starting, they say, is a way for them to give back.
“To see your child in the hospital and to go through so much ... I will do everything in my power for the rest of my life to make the quality of life better for all of these children,” Julie said.
Today, Ellie is no longer in and out of the hospital. Instead, she is walking along furniture, and crawling everywhere. Julie said she is flourishing.
“It's like she's a completely different kid,” Julie said. “It's amazing to watch her grow.”
Late one morning, Julie knelt beside an ottoman that Ellie was peeking behind in their living room. “I'm gonna get you,” Julie said. Ellie giggled and bonked her head on the ottoman while trying to hide her face.
“Don't hit your head you silly lady,” Julie said. She looked away for a moment.
“She's got the best personality. She's so playful and she's happy all the time unless she's in a doctor's office.”
As she watched Ellie laughing, Julie smiled.
“She's just the light of our lives. She means the world to us.” Julie crossed her arms on the ottoman and leaned close to Ellie's face. “I tell her every day, if I lined up all the babies in the whole world, I'd say, ‘Oh that Ellie, she's the one for me.'”
Julie looked over at Blake who was watching from a nearby chair, and then gazed back at Ellie.
“She's the one for me.”