Severe Spasticity and Dystonia: Josie's Story

Meet Josie

Josie Chairez was a happy, healthy 3-year-old until June 22, 2017. That’s when she developed what seemed like a stomach virus.

“At first we thought Josie had a flu bug,” said Johnna Chairez, her mother. But after three days, the vomiting and diarrhea didn’t seem to be getting better.

The Chairez family lives in Lamar, Mo., so they took Josie to a local emergency room. Her condition continued to decline while there, but doctors told her parents they suspected Josie had contracted a rare strain of the bacteria Escherichia coli, or E. coli, and recommended the highly specialized pediatric care available at Children’s Mercy Kansas City.

Immediately, Josie was transferred by helicopter to the Children’s Mercy Adele Hall Campus. While on the way, her kidneys began to shut down, and she started having seizures. When she arrived, she was admitted to the hospital’s Pediatric Intensive Care Unit, or PICU.

“The last seizure Josie had lasted two hours,” Johnna said. “To reduce the risk of brain damage, doctors put her into a medically induced coma for the next two days.”

To prevent further injury to her kidneys, Darcy Weidemann, MD, a Children’s Mercy kidney specialist, prescribed continuous renal replacement therapy, or CRRT, for Josie. This is a form of dialysis performed in the PICU for patients with acute kidney injuries.

What is Hemolytic Uremic Syndrome (HUS)?

Children’s Mercy specialists confirmed that Josie had contracted a rare condition called hemolytic uremic syndrome, or HUS. Anyone can develop HUS, but it is most common in young children. In many cases, it is caused by infection with certain strains of the E. coli bacteria. The first symptom of this form of HUS is several days of diarrhea, which is often bloody.

HUS occurs when the E. coli damages and inflames the small blood vessels in the kidneys. This damage can cause clots to form in the vessels. The clots clog the filtering system in the kidneys and may lead to life-threatening kidney failure.

With immediate treatment, most children recover completely from HUS, but a small percentage do not. Unfortunately, Josie did not make a full recovery.

But Josie is a fighter. Her condition began to improve after her first week in the PICU, and she spent a month there in all. In addition to the kidney injury, she also has HUS encephalopathy, which damaged the portion of Josie’s brain that controls her movements. This left her with severe dystonia, a movement disorder that causes her muscles to contract uncontrollably.

“Josie can’t talk or walk, but the HUS didn’t impact her intelligence and she is completely aware of her surroundings,” Johnna said. “We spent three months doing therapy at Children’s Mercy. Their rehab team is awesome!”

On the road to recovery

Once back in Lamar, Josie continued therapy in nearby Carthage, Mo., and traveled to the Children’s Mercy Comprehensive Movement Disorders and Spasticity Clinic for follow-up care. The program is one of a handful in the nation, and the only program in the region, that takes a global approach to treating movement disorders.

This team’s strategy provides better outcomes, increases patient and family satisfaction, and reduces time at the hospital. These experts work together to provide the best treatment plan for patients with complex movement disorders and spasticity. Typically, they care for patients diagnosed with dystonia, as well as musculoskeletal deformities, chorea, cerebral palsy, myoclonus, kernicterus and ataxia.

Treatment options may include high muscle tone injections, oral medications, intrathecal baclofen pump, selective dorsal rhizotomy, motion gait lab analysis, deep brain stimulation and orthopedic surgery.

Initially, the team prescribed oral medications and botox injections for Josie, but neither provided much relief.

A new prescription

“Even after months of therapy, if you held Josie up, she couldn’t flatten her feet out. Her toes were pointed straight down,” Johnna said. “When the team recommended the baclofen pump to help reduce spasms and improve function, we decided to give it a try.”

An intrathecal baclofen pump is a battery-operated device that is surgically implanted to treat muscle spasticity and dystonia, helping muscles relax. With this device, the medication is delivered directly into the spinal fluid, which requires patients to have a much smaller dose than they would with oral baclofen or other oral medications.

In Josie’s case, Michael Partington, MD, Children’s Mercy neurosurgeon, surgically implanted the pump under the skin of her abdomen in December 2018.

Following a week-long hospitalization, Josie returned home, continuing physical therapy in Carthage.

Over the past few months, she’s taken part in an intense physical therapy program at Ability KC. She had rehab five days a week, eight hours a day. While there, she worked on crawling, sitting and communication.

“Josie is stubborn and a hard worker,” Johnna said. “She is making great progress since the pump was implanted, and the rehab has been helping her regain her muscle control. She’s back in school and has started to say some words, like hi, bye and I love you. I can’t believe how much she has improved!”

“The ITB pump has helped reduce Josie’s dystonia so that she is now expending less energy working on activities like sitting and reaching,” explained Sathya Vadivelu, DO, pediatric rehabilitation medicine physician. “This allows her to better interact with and access her environment, which helps with her to participate in school, and interact with her siblings and friends.”

Long term, Josie will see the Comprehensive Movement Disorders team at Children’s Mercy as needed, but will follow up with Rehabilitation Medicine for regular adjustment of her intrathecal baclofen pump to better manage her dystonia.

“Josie is a remarkable, spirited little girl, who has a lot to share, but has been limited by her movement disorder since this occurred,” Dr. Vadivelu said. “Her family has been wonderful in doing everything they can to help unlock Josie’s potential.”

Johnna credits Children’s Mercy with Josie’s progress.

“The team is so helpful,” Johnna said. “Dr. Partington did a wonderful job implanting the pump and explaining the process to us.

“The Complex Movement and Spasticity Disorders team members go out of their way to answer our questions and address our concerns. They have made this process much easier and have helped us stay positive and hopeful.

“It doesn’t matter how far we live from Children’s Mercy, we would drive farther,” Johnna said. “That’s how much we think of this team and this hospital.”