The questions started as soon as the tiny baby was born.
Emma Cochrane and her twin, Eli, were born slightly early at 38 weeks gestation. Eli weighed just over 7 pounds. Emma was much smaller, weighing in at 5 pounds, 10 ounces.
Their parents, Melissa and Andrew Cochrane, brought them both home from the hospital. But only a few days later, Melissa was tearfully rubbing Emma’s hands and feet, noticing slight abnormalities she could not quite define.
Emma had a larger soft spot than most newborn infants and her head was misshapen. She had feeding issues, struggling to master the mechanics of swallowing.
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"I remember sitting at home crying, saying, ‘Something is different,’" Melissa Cochrane said.
Those initial questions have turned into a nearly 17-year search for answers into Emma’s health issues. She and her family have seen dozens of doctors: geneticists, neurologists, psychologists and immunologists, all looking for answers about what afflicted Emma. They’ve been treated at Riley Hospital for Children at Indiana University Health, the Cincinnati Children’s Hospital and by pediatricians in Indiana.
Four months ago, they finally received a diagnosis. In December 2018, Emma was diagnosed with KBG syndrome, a rare genetic disorder that affects a few hundred people in the world. The Cochranes believe there is only one more diagnosed case in the state.
KBG is characterized by short statures, bone abnormalities, intellectual disabilities and behavioral anomalies, according to the National Organization of Rare Disorders. Emma’s experience of the disease has encompassed all of these, in addition to a condition that some doctors believe are seizures.
"Learning she had KBG syndrome made total sense," Melissa Cochrane said.
Melissa Cochrane brought up her initial concerns with pediatricians at regular checkups after Emma’s birth. The doctors chalked them up to her being small and a twin, she said.
But more warning signs emerged. As a toddler and young child, some of Emma’s melt downs and tantrums far eclipsed anything Melissa and Andrew Cochrane had dealt with in Eli, or their oldest daughter, Cami. The tantrums were epic and did not seem to have a trigger, Melissa Cochrane said.
The Cochranes were also starting to notice a possible intellectual disability, with Emma being crippling shy in classes and falling behind academically. The family sought out a psychologist for their daughter.
The situation grew worse. At one point, Emma went through a weeks-long period of lethargy and sleeping an abnormal amount of time each day. During school, a classmate had to take Emma to the nurse’s office when she seemingly stared ahead, zoning out in class. She was unresponsive in the nurse’s office. Doctors told the Cochranes that Emma was having seizures.
Her doctors prescribed a variety of medications in an attempt to control the symptoms of Emma’s condition, but many of the signs were so subtle that others didn’t notice. Emma zoned out or slept through most of her seizures, Melissa Cochraine said.
"She could be at school all day long and no one would know what was going on," she said.
Doctors diagnosed Emma with epilepsy. Melissa was confident they had finally found what may have been wrong, and they made a plan to treat her seizures.
"I thought, OK, this is it," she said.
But doctors were never able to get the seizures completely under control. One medicine would work for a few months and then would need to be switched. A nurse practitioner saw a seizing episode and did not think it looked like a seizure. Behavior issues and impulse control also became an issue, and Emma also seemed more prone to other illness, such as colds, flu and pneumonia.
Melissa Cochrane knew something else was going on. She researched and asked doctors to test for other ailments such as chronic Lyme disease.
The solution came after an immunologist suggested testing Emma’s genetics. Blood was drawn from Melissa and Andrew Cochrane, in addition to Emma. That was when doctors found the genetic mutation that causes KBG syndrome.
Neither Melissa or Andrew Cochrane carry the gene for the syndrome.
"It was just a random mutation for her," Melissa Cochrane said.
There is no treatment or cure for KBG syndrome, though doctors can help address some of the symptoms. The diagnosis was likely missed for so long because of it is such a rare condition, so much so that many doctors do not even knows it exists, Melissa Cochrane said.
For the past four months, the Cochrane family has immersed themselves in education about the syndrome. There is very little research about the disease because of its rarity, Melissa Cochrane said.
A foundation that studies the disease is less than five years old. A Facebook page was established to support families who are also grappling with the disease. That page was where Melissa Cochrane noticed that other children diagnosed with the condition had the same high cheek bones and triangular shaped faces as Emma.
"It is interesting how much they all look alike," she said.
Now they are trying to make a normal life for Emma. She will likely never drive and currently needs someone with her at all times. Still, she attends Franklin Community High School, where she participates in the Best Buddies program. She has already picked out a black and purple dress to attend the school’s prom in the spring.
She is enrolled in general population classes at school and completes her work with the help of a special education aide. Her favorite hobbies are puzzles, board games, swimming and playing the card game "Old Maid."
The experience the Cochranes have gone through has inspired Emma’s older sister, Cami, to explore a career in genetic counseling. Cami Cochrane saw what her parents went through for years with Emma. She was interested in genetics before Emma was diagnosed, but imagines it would have been easier for her parents if they were able to meet with a genetic counselor during their initial ordeal with Emma.
And Cami is hoping her post graduate research might help others with the disease, she said.
"I really have a passion for it now," she said. "There is so much more out there that we do not know about."
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KBG Syndrome
KBG Syndrome is a rare genetic disorder that can affect both males and females. About 150 cases have been documented in medical literature.
The disease is caused by a mutation in gene ANKRD11.
Symptoms include bone and dental abnormalities, abnormalities of the head, behavior abnormalities and intellectual disabilities.
No cure currently exists for the disease.
Source: National Organization for Rare Disorders.
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