The Start of a Complex Medical Journey
Weighing 5 pounds, 12 ounces, Natalie was born on December 26, 2012, while her father was deployed in Afghanistan, serving as a Master Sergeant in the U.S. Air Force. “Her pediatrician said she had a heart murmur, so, when she was 48 hours old, we met our first Connecticut Children’s doctor—Dr. [Harris] Leopold in Cardiology,” her mother, Julie, said. “She was diagnosed with two holes in her heart.”
Nine hours and 8,000 miles away, Bryan received a call from Dr. Leopold through the Red Cross to learn of his daughter’s diagnosis. After the call, Bryan said he felt his daughter was in good hands and was going to be OK. But she was never far from his mind. “At that point, I still had another three months to go,” he said.
While her heart defects did not require immediate attention (and, ultimately, she did not require open-heart surgery), other medical issues began to surface. One was “failure to thrive.” Failure to thrive is a term used to describe an infant who does not gain weight at the expected rate or meet other recognized standards of growth. “Natalie was sleeping 22 hours a day,” Julie said. “We had to wake her up to feed her.”
“Failure to thrive led to her to sleep on one side of her head,” Bryan added. This led to plagiocephaly—a condition in which an infant’s head develops an abnormally flattened shape and appearance. For Natalie, this required her to wear a helmet for nine months.
Meanwhile, Natalie was not gaining weight and did not walk until she was 2 years old. “She probably went through a year-and-a-half of physical therapy,” Julie said. “If you put it all together, it’s been years of physical therapy, speech therapy and occupational therapy.”
A Turning Point
The big turn of events was when the family met with Dr. Jill Bernstein, a pediatrician in the Division of Pediatric Urology, when Natalie was 3½ years old. “What was happening was that she had urinary retention, and it required catheterization,” Julie explained. Dr. Bernstein also recommended that Natalie have an MRI of her brain and spine and undergo genetics testing.
“The MRI uncovered that she had a tethered spinal cord and needed surgery,” Julie said.
When a spinal cord is tethered, it cannot move freely within the spinal canal and can trigger a host of problems. “It can cause bladder dysfunction and, if left untreated, it could have led to paralysis from the waist down,” Julie explained.
Although the spinal surgery was successful, Natalie still faced other challenges. Just three months shy of her 4th birthday, she weighed only 24 pounds. “She was a tiny little peanut,” Julie said.
“Dr. Bernstein was concerned that she still wasn’t growing,” Bryan said. “She wasn’t gaining weight. She would pick at her food, and she was not a picky eater. It’s like I could have handed her three M&Ms, and she would have handed two back and told me she was full after eating one. So, we started digging into that.”
That led Natalie’s family to the Division of Gastroenterology and then to General Surgery to have a feeding tube placed.
While the feeding tube provided Natalie with the nutrition she needed to grow and develop, other issues surfaced. Natalie was diagnosed with gastroparesis, cyclic vomiting syndrome and autonomic nervous syndrome dysfunction. Gastroparesis affects the stomach muscles and prevents the stomach from emptying properly, resulting in nausea and feelings of fullness after little food is eaten. Cyclic vomiting syndrome, meanwhile, is a disorder that causes recurrent episodes of nausea and vomiting, and autonomic nervous syndrome dysfunction results from disorders that damage autonomic nerves or parts of the brain that help control body processes.
The constant drip-drip-drip of symptoms affecting Natalie made her parents wonder, “Why?”
Genetics Testing Reveals Answers
When Natalie was 5 years old, Julie and Bryan finally got their answer. Genetics testing revealed that Natalie has a rare disorder known as KBG Syndrome, which affects several body systems and helped explain her range of symptoms. Caused by a mutation called “ANKRD11 gene,” the symptoms of KBG Syndrome vary from person to person.
Natalie does not have the classic symptoms, her mother said, but she has many of the less common medical conditions associated with it. In addition to heart defects, tethered spinal cord, gastroparesis, autonomic syndrome disorder and cyclic vomiting syndrome, she also has some hearing loss and issues associated with her eyes.
“At the time, there were 40 other ‘Natalies’ in the world,” Julie noted. “At that point, there were only 40 other confirmed cases.”
“When you have something that can affect your DNA, it doesn’t just affect one area.” Julie said. “It affects every system you can possibly find. Most notably, Natalie also has a rare blood clotting disorder called factor VII deficiency. The occurrence of that is only 1 in 300,000. As a result, she’s now seen in Hematology every three months.”
In addition to Hematology and Cardiology, Natalie continues to be seen in Urology every six months as well as in the Division of Otolaryngology (Ear, Nose and Throat) and in Audiology every four months.
Julie and Bryan also credit Natalie’s sisters, Michelle, 10, and Emily, 16, for looking out for their little sister, “They have been super-supportive,” Julie said. “They both know how to handle a feeding tube, nose bleeds, and anything else she throws at us.”
Taking It All in Stride
Despite all the twists and turns of her complex medical journey, Natalie takes everything in stride, her parents say.
“She goes to school every day and takes her little feeding-tube backpack and conquers the day with all of her friends, and that is the most important part about Natalie,” Julie said. “She is absolutely independent, which is great, because when we got her diagnosis and read about it, we wondered if she was going to be a functioning child in society. She has overcome so many could-have-been situations, it’s remarkable.”
“She doesn’t complain about it,” Bryan added. “She takes everything in stride.”
“She’s one in a million,” Julie said. “She really is.”