JOHNSON CITY, Tenn. (WJHL) — A trip to the local children’s hospital with a sick infant led to a much more complex diagnosis than her parents expected.
According to her father, Scott Shriner, Quinnlee Mae Shriner appeared sick in late September but tested negative several times for respiratory viruses. After several days of symptoms, she was admitted to Niswonger Children’s Hospital on Sept. 29 and was diagnosed with RSV, Rhinovirus, pneumonia and Bronchiolitis. Four days later, she stopped breathing and coded.
“She coded for 12 minutes, and I wasn’t there,” said Shriner. “As a father, or as a parent, you never want to get the phone call that your child is in that type of distress. And there is an image that I will never shake… showing up to the hospital leaving the car and not even having the time to turn it off and seeing a group of doctors and nurses and everybody in the care surrounding your daughter’s room. My heart dropped.”
On Oct. 3, doctors had to intubate Quinnlee Mae. Doctors attempted to remove intubation on Oct. 7, but within 24 hours they had to reintubate. The then 7-month-old was transferred to Vanderbilt Children’s Hospital on Oct. 13.
Medical professionals were able to get Quinnlee Mae to breathe, but she had to be intubated once again. After three failed attempts to remove the intubation, Quinnlee Mae’s doctors were able to extubate and place her in a non-invasive Cuirass ventilator to help her breathe on Oct. 25.
Still at Vanderbilt, Quinnlee Mae now only needs the Cuirass three times a day, along with a nebulizer to clear secretions that build up. She also requires a feeding tube and a BiPAP machine at night. She will eventually need braces for her feet and hand splints.
Quinnlee Mae was diagnosed with Spinal muscular atrophy with respiratory distress (SMARD). According to the National Organization for Rare Disorders, the condition typically presents as infants having trouble breathing between six weeks and six months of age. Unless treated with mechanical ventilation, most infants die before 13 months of age.
According to the organization smashSMARD, almost all patients who live past a year old require a tracheostomy and are ventilator and wheelchair-dependent. The organization also states the disease comes from a recessive gene, meaning it must be inherited from both parents and has been diagnosed in about 100 children worldwide.
Shriner said beginning when Quinnlee Mae was just 2 months old, they had been noticing symptoms and seeking diagnosis for those symptoms.
“We knew something was wrong,” said Shriner. “We just couldn’t figure out what. We would take her to a pediatrician every time we noticed that her toes stopped moving, her feet stopped moving, she wasn’t lifting her legs anymore. We took her to a pediatrician about everything that she has, and it was always ‘but let’s wait and see what happens.'”
Shriner and his fiance, Diamond Bowery, pushed for CTs, MRIs and other tests in hopes of finding answers. In late August, they sought genetic testing, but nothing appeared in the initial tests. They then sought more extensive genetic testing in September but were told they would not receive results for 2-3 months. Shriner said when they arrived at Vanderbilt, a rush was put on the tests.
“Whenever they did do her genetic testing, they actually found a mutation that’s never been recorded,” said Shriner. “So not only does she have the rare disease, she has an even rarer disease because her mutation or the mutation is different than anybody else has ever been done.”
Shriner said the team of medical professionals at Vanderbilt was unfamiliar with SMARD prior to the diagnosis.
Currently, Bowery is out of work to stay with Quinnlee Mae during her treatment. According to Shriner, Quinnlee Mae was cleared to leave the hospital two weeks ago, but they cannot secure a Cuirass ventilator to take home.
“We’ve reached out to the distribution center that makes it and everything. They’re on board, ready to go, ready to send it, but the State of Tennessee is not allowing them to sell it in Tennessee because they don’t have an office located here,” said Shriner.
At this time, there is no cure for SMARD, according to smashSMARD. The treatment is meant to manage symptoms through mechanical ventilation, keeping airways clear and physical therapy to retain muscle function. The organization recently announced gene therapy trials have been approved for the disease, but Shriner said the funding will limit the availability and extent of the trial.
Shriner and Bowery hope to have Quinnlee Mae home by Christmas, so they can all share the holiday together with their 6-year-old son.
Shriner said he’s thankful for the care they’ve received at both Niswonger Children’s Hospital and Vanderbilt Children’s Hospital.
The couple said while they’re not sure how long they have with their daughter, they hope spreading awareness can help other parents recognize the signs and symptoms of SMARD and increase funding for research. They also want to encourage other parents to advocate for their children when they feel something is wrong and to seek treatment and tests if possible.
After she is sent home, Quinnlee Mae will need physical therapy and occupational therapy in the coming months. A GoFundMe has been set up to help with treatment costs.