Family's 10-Year Medical Mystery Comes to a Close

Steve and Hanna with their daughters Addison and Trinity (and pups). Photos courtesy of the Hanners family.

Hanna and Steven Hanners of Kansas spent a long and painful decade seeking answers. They were trying find out what was causing their daughters, ages 10 and 7, to have symptoms ranging from severe developmental delays to seizures and paralysis. Finally, in August, through the use of genomic testing as part of a breakthrough study at Children’s Mercy hospital in Kansas City, MO, they received a prognosis: Prader-Willi syndrome, a complex genetic disorder affecting only 1 in 10,000 to 30,000 people worldwide. But just learning its name lifted a heavy burden for the Hanners.

“The biggest relief of the diagnosis is having the peace of mind that we didn’t do anything wrong to cause this condition,” Hanna, 30, tells Yahoo Parenting.

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Hers was one of 100 families selected to be a part of the study, published December 3 in Science Translational Medicine, which validated the incredible impacts of genomic testing for children with hard-to-diagnose conditions. A vast majority of the families had spent more than six years looking for answers, spending an average of $19,000 on previous tests that discovered nothing. But after undergoing exome or whole genome sequencing — which identifies disease-causing DNA variants — 40 percent of the children had a definitive diagnosis, which oftentimes changed the course of their treatments.

“We’re really trying to open people’s eyes to the potential benefits of making this type of testing available early on,” researcher Dr. Sarah Soden, of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, tells Yahoo Parenting. These studies aim to make genomic testing more available and affordable to all on a national level.

For the Hanners, its effect has been priceless. In addition to their daughters’ diagnoses easing feelings of guilt, Hanna says, it’s felt good “to actually be able to give someone an answer when they ask, ‘what’s wrong with her?’” Because, she notes, “As rude as it sounds, it happens all the time. I actually once had someone ask me, point blank, ‘what kind of drugs did you do to cause THAT?’ while looking at my 5-month-old in disgust.”

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Hanna was just 19 years old at the time — a first-time mom with too much on her plate. She recalls the insult came during her first solo outing with baby Trinity, whose mysterious condition required her to lug around not only a diaper bag, but medical equipment including a feeding pump, a can of oxygen, and a pulse oximeter (for monitoring oxygen intake), not to mention the various cords that connected everything. “I was a proud mother — proud of my daughter for what she had to fight through to grace the earth, proud of myself for not letting it beat me, and proud that I could actually do this,” Hanna recalls. “Then there were those words, those nasty, hateful, disgusting words. They knocked me down, tore me apart, and broke my heart.”

Addison and Trinity.

The heartbreak had begun soon after Trinity’s premature birth, when she was placed in the neonatal intensive care unit. “Immediately, they started bringing in all kinds of specialists,” says Hanna, explaining that her less-than-five-pound baby had low muscle tone, no sucking instinct, low blood sugar, and an endocrine system that was “out of whack.” She also couldn’t breathe on her own. Her parents took her home after three months only to immediately return when Trinity stopped breathing, requiring Hanna to do CPR. The next time Trinity went home, she was sent with constant oxygen, oxygen monitors, and a suction machine to remove secretions from her tiny airway. She spent months and then years going on frequent visits to her primary care doctor, various specialty clinics, and Children’s Mercy Hospital — about two hours away from the Hanners’ small town of Burlington — and eventually required a feeding tube and pump, plus in-home nursing care to monitor her oxygen as her parents slept.

“A lot of the doctors told us, ‘She’s a medical mystery,’ or called her ‘an enigma,’” Hanna recalls, recalling that expert concocted a prognosis of “multiple congenital anomaly,” she says, “meaning there were a lot of genetic things wrong but that they didn’t know why.”

Eventually, Hanna says, she and Steve settled into what they realized was their “new normal,” and decided they wanted to try having a second child. A doctor assured them that they should go for it, as Trinity’s condition was surely “a fluke.” But after much of a pregnancy spent on bed rest, Hanna gave birth to a second daughter, Addison, who immediately showed the same symptoms. “My husband I were almost relieved,” she recalls, “because at least we knew what to expect. But Addison has had a rougher time.”

Much of her first year was spent being shuttled back and forth by Hanna to see doctors at Children’s Mercy, while Trinity stayed with her grandparents and Steve worked to make ends meet at his job in construction. “I’d be at the hospital scared out of my mind,” Hanna recalls. A cosmetologist and stylist unable to work at the time, she was also anxious about all the money each trip would eat up on gas, food, and a hotel room, though on each visit she would put their name on a waiting list for one of the donated Ronald McDonald rooms at the hospital. “We played it day by day, we lived out of a suitcase,” she says. There were also some medical bills, although both girls were deemed disabled at birth, affording them medical assistance cards.

Today, while Trinity, 10, can walk, she is nonverbal and severely autistic; Addison, 7, can speak, but is also autistic and must use a wheelchair to get around and a feeding tube for nourishment (Trinity is off of hers). She’s also had a terrifying brush with death when she was just a year old due to a perforated ulcer that caused massive internal bleeding.

“We feel very blessed,” says Hanna. When Addison was an infant, she adds, her husband’s sister had a baby with Down syndrome and a hole in her heart, and she died at just five months old. “It was very hard on my husband,” she recalls. “We went to the funeral. She and Addison were supposed to have grown up together.”

Then, this past summer, right after receiving the girls’ diagnosis, the family had another setback: Hanna was diagnosed with an autoimmune disorder called ITP (Idiopathic Thrombocytopenic Purpura), which can lead to excessive bleeding or bruising. She was hospitalized for two weeks — the longest either of the girls had been away from their mother, causing tough developmental backslides, and rough starts at their special-education schools. But her “amazing” parents, Hanna says, stepped up to help everyone.

Now, pondering the end of their diagnostic odyssey with the girls, Hanna admits she felt speechless and even a little lost when she and her husband received word of the Prader-Willi syndrome, a disorder of the 15th chromosome. But now they’re hoping to make contact with the parents of those with the few other documented cases as a way to learn more about what their daughters’ futures may look like. “It’s helped us see the big picture,” she says. “And it’s inspired us to want to pave the way for families looking for answers in the genetic community.”