Westside girl born with rare genetic condition thrives with benefit of coordinated care services 

 

Twenty-month-old Journey James has more medical needs than most children her age. Born with a rare genetic condition that causes developmental delays and medical complications, she requires constant and palliative medical care. The coordination of this care by the Bower Lyman Center for Medically Complex Children has helped her parents navigate through the confusing and sometimes scary process of caring for a child with multiple health issues. 

This week, Journey and her family are in Washington D.C. as representatives from Wolfson Children’s Hospital to attend the 2015 Speak Now For Kids Family Advocacy Day, sponsored by the Children’s Hospital Association. Their hope is to talk to leaders on Capitol Hill about how important the care coordination, like that provided by the Bower Lyman Center, is for children and their families caring for a medically complex child.

“People who have not been in our situation have no idea of how lost families are and how confusing the process is, not only during recovery but also with coping, how to get places, where to go for help, and how to handle the financial aspects of long-term, complex care,” said mom December. “We really need more programs like the Medically Complex Center. It’s so important. They have to exist, and they must be supported.”

In addition to providing Journey a “medical home” where she goes for monthly check-ups with her primary care physician Kelly Komatz, MD, MPH, the medical director of the Bower Lyman Center for Medically Complex Children, the center coordinates all of the care Journey needs, including scheduling appointments with various specialists, and connecting the family with services like Community PedsCare, a Community Hospice outreach program that provides in-home palliative care and medical support to children with life-limiting conditions.

“As parents of a child with special needs, we couldn’t be without the coordinated care the Medically Complex Center provides,” said December. “They really guide and encourage you, and give parents like us peace of mind as we navigate through the unknown.”

Their journey into the unknown began with the moment she was born. Aside from the concerned atmosphere in the delivery room that October day in 2013, father Allen noticed that she had an unusually shaped jaw, and her feet and hands were malformed. She also was struggling to breathe, and taken promptly to the NICU for evaluation.

Two weeks later without a confirmed diagnosis, Journey was sent home on oxygen and a heart monitor, and less than a week later, mother December awoke at 3 am to find her blue and unresponsive in her bassinette.

“I believe in angels because I heard someone tell me to wake up and pay attention, and when I did, I heard her take her last breath.” said December. “I scooped her up, called 911, and started CPR. On the fifth round, I finally got her to take a big breath, right as the paramedics got there.”

At her request, Jacksonville Fire and Rescue transferred Journey to Wolfson Children’s Hospital’s ER where she stopped breathing again. When they finally were able to stabilize her, she began swelling up and convulsing; test showed she had bacterial meningitis. As the Wolfson Children’s PICU team began intravenous antibiotics to fight the infection, the results of the blood work taken when she was born came back confirming what the pediatric geneticist suspected; Journey had Trisomy 18.

Also known as Edwards syndrome, Trisomy 18 is an often-fatal, rare genetic condition caused by an error in cell division that triples the 18th chromosome. The extra chromosome causes disruption in the normal pattern of development that can lead to heart defects, kidney problems and other life-threatening issues. Half of babies with this condition actually are born alive, but only about 10 percent make it to their first birthday. Journey’s bout with meningitis was an unrelated complication, but her diagnosis made surviving it that much more challenging.

Dr. Komatz, who also is board certified in the subspecialty of pediatric Hospice and Palliative Medicine, was called in upon Journey’s diagnosis. She explained to December and Allen that the first order of business was to get her over the infection. If that resolved, they would then address the Trisomy 18 diagnosis, and its medical concerns. As the weeks went by and Journey began to improve, her parents began to feel hopeful.

“There are grown men who die from bacterial meningitis,” said December. “We said, ‘She is still alive, so she obviously is telling us she wants to be here.’”

Journey died twice in her first five months, once from the meningitis, and again when a feeding tube migrated into her lungs causing both lungs to collapse, and her heart to stop. Both times, she received CPR from December until the team at Wolfson Children’s Hospital could take over and save her. The most critical stage for children with Trisomy 18 is the first two years; after that, the odds of survival grow. Some live twenty or thirty years but will always require full time care.

Today, she is almost 19 months old but is about six months old developmentally, and only 15 pounds. Since December left her job as principal of The Broach School on the Westside to stay home with Journey several months ago, her daughter has gotten bigger and stronger. She receives occupational, speech and physical therapies at Wolfson Children’s Rehabilitation.

“They know that we are available for them on call 24/7, we know Journey, and her family’s wishes and goals for her,” said Dr. Komatz. “We have laughed and cried together, and we take one day at a time together. We have their back.” 

On Journey’s first birthday, the family celebrated by bringing cupcakes and doughnuts to the first responders at the area fire stations who came to their aid, and the caregivers at the hospitals where she received treatment. On her second birthday, the family will have an even bigger reason to celebrate. But until then, they will continue to cherish every day they have with their little girl.

“Journey is so adorable, such a little snuggle bug, and she has a beautiful smile,” said December. “We just love her so much.”

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