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Dystonic Cerebral Palsy: Sarah's Story

Partnership Opens the Door to More Independence

Sarah smiles for the cameraSarah Handy, who refused to let dystonic cerebral palsy keep her from realizing her potential.

Sarah Handy is like a lot of 10-year-old girls — already a little boy-crazy and always on the lookout for fun, especially if it means being in on a good prank. Her mom, Dena, says the spunky preteen is also a sports fan who loves watching hockey and football games on television with her dad, Patrick.

Sarah was born with a rare genetic disorder that affects her metabolism. It caused her to have a stroke at five months old and also dystonic cerebral palsy — a type of cerebral palsy that causes Sarah’s muscles to involuntarily contract and move or get stuck in abnormal and painful positions.

For Sarah, that meant from age five months she lived with her back and arms often uncomfortably and painfully arched and extended. Simple tasks like changing her diaper and lifting her were difficult for her parents. 

Growing Up with a Health Care Team

When Sarah was only a week old, Dena and Patrick began what's become a lifelong relationship with The Johns Hopkins Hospital. Sarah began seeing Johns Hopkins pediatric genetic specialist Ada Hamosh, M.D., for the genetic disorder. After Sarah suffered a stroke and developed cerebral palsy, Johns Hopkins physical medicine and rehabilitation specialist Stacy Suskauer, M.D., joined the team. Sarah needed a feeding tube and also had occupational, physical and speech therapy at home each week.

When she turned 3, Sarah started preschool in Anne Arundel County, where she also continued therapies. By second grade, the county realized Sarah had unique needs and decided that the Kennedy Kreiger Institute School was a better fit. The institute, which is across the street from Johns Hopkins, is dedicated to improving the lives of children and young adults with pediatric developmental disabilities and disorders of the brain, spinal cord and musculoskeletal system.

It didn't take long to see that Sarah's limitations were purely physical.

"Sarah's locked in a body that can't do what she wants it to do," says Dena. "She's intelligent. She can't talk, but she laughs and cries and uses her face and eyes to express herself. She has a smile that will melt your heart." 

As Sarah grew bigger and stronger, the dystonia worsened, and the uncontrollable muscle spasms caused new problems. The contractions that caused Sarah's back to arch and limbs to extend were painful and difficult to release.

"It's like getting a severe charley horse that you can’t relax," explains Dena.

Sarah was also in an uncomfortable positon all the time. "Imagine arching your back as far as you can — that's how she slept," says Dena.

The force of the muscle contractions also left a trail of broken wheelchair seats, headrests and footplates. "She's broken every wheelchair she's had," says Dena. 

Looking for Relief

Sarah's parents and health care team knew the dystonia limited Sarah's independence and potential. Muscle-relaxing medications didn’t help. In the summer of 2016, they began talking about deep brain stimulation as a possible treatment.

Last September, the Handys saw Shenandoah “Dody” Robinson, M.D., a Johns Hopkins pediatric neurosurgeon with expertise in cerebral palsy. She suggested a different treatment option: a surgically implanted intrathecal baclofen pump. Sarah had tried an oral version of the medicine (baclofen) previously, with no success.

"The pump is implanted in the abdomen and a tiny catheter enters the spinal canal and sits in the cerebrospinal fluid that bathes the spinal cord," explains Robinson. "It delivers a steady dose of the medication directly to the nervous system, rather than the bloodstream when it’s taken by mouth. Sarah would have needed such a high oral dose it would have either put her to sleep or given her intolerable side effects." 

The hockey puck-sized pump has a computer chip that regulates the dose; it sounds an alarm when the pump needs to be refilled or if the battery is low. The pump needs to be refilled about every three months and replaced every seven years.   

Dena and Patrick talked to Sarah about the surgery. With the help of eye-gaze technology and a voiced output device she uses to communicate, she said, "Absolutely!" to having the surgery. She wanted relief.

In September 2016, Sarah had her surgery. The first thing Dena noticed when she saw Sarah after surgery was that she was lying flat.

"She was relaxed — I hadn't seen that since she was 5 months old."

Johns Hopkins has coordinated Sarah's care since she was 7 days old. They've always wanted what's best for Sarah and our family.

-- Dena Handy, Sarah's mother

Sarah, wearing a lei

 

Special Partnership Makes the Difference

After surgery, Sarah stayed at the Kennedy Krieger Institutute for inpatient rehabilitation.

"Sarah had used the muscle stiffness of dystonia to help her roll over and hold up her head," says Dena. "She needed intensive therapy to learn how to do those things on her own."

Inpatient rehabilitation also allowed Robinson to monitor Sarah closely and adjust the medication more quickly to reach the ideal dose. Typically, that process takes two to three months as an outpatient. Robinson says they got close to reaching Sarah’s dosage in the two weeks she was at the Kennedy Krieger Institute.

Although the pump hasn't eliminated the dystonia, it’s lessened the hold the muscle contractions had on Sarah’s body — and on her potential.

"For the first time, she can fold her arms within her wheelchair,” says Dena. “Her muscles still tighten, but now she has more control. When she tried to relax her muscles before, involuntary muscle contractions worked against her. Now we can help her release extensions by reminding her to take a deep breath and take a minute to relax," says Dena.

Robinson adds, “Sarah will be more able to live and care for herself to her full potential. I’m hopeful that she’ll be able to go to college.”

Robinson and the Handys are grateful for Johns Hopkins and the Kennedy Krieger Institute.

"It’s great to work so easily with Kennedy Krieger’s inpatient rehabilitation program as it allows us to make the rapid medication adjustment while providing all the rehabilitation services," says Robinson. "This helped Sarah function better and be more comfortable much faster."

Dena says the experience is what they've come to expect for Sarah's care.

"Johns Hopkins has coordinated Sarah's care since she was 7 days old. They've always wanted what's best for Sarah and our family. They’ve become family. Their willingness to work together has made it a great experience for everyone.” 

Sarah's Treatment Team

Learn more about Sarah’s doctors:

Photo of Dr. Shenandoah Robinson, M.D.

Robinson, Shenandoah, M.D.

Professor of Neurosurgery
Professor of Neurology
Professor of Pediatrics
 
Photo of Dr. Ada Hamosh, M.D., M.P.H.

Hamosh, Ada, M.D., M.P.H.

Professor of Pediatrics
Dr. Frank V. Sutland Professor of Pediatric Genetics
 
Photo of Dr. Stacy Jennifer Suskauer, M.D.

Suskauer, Stacy Jennifer, M.D.

Associate Professor of Physical Medicine and Rehabilitation
Associate Professor of Pediatrics
 

Learn More About Dystonia

Moyamoya as seen on an angiogramShenandoah "Dody" Robinson, M.D., Sarah's neurosurgeon.

Dystonia is a movement disorder that causes muscles to contract uncontrollably. The contraction causes the body part to move involuntarily and twist abnormally.

 

Read more about dystonia.

Caregiver assisting patient post-surgeryCompassionate care, before, during and after surgery is part of every patient's treatment plan.

Cerebral Palsy Treatment Services
 

The experts at The Johns Hopkins Children’s Center Division of Neurosurgery specialize in advanced treatments for a wide range of movement disorders, such as cerebral palsy and dystonia.

Read more about pediatric neurosurgery at the Johns Hopkins Children’s Center.

 

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