BOBÌåÓý

Two years ago, Yali used a walker as she inched toward her school’s entrance. Her neck, twisted and folded forward, hunched her over in “the shape of the letter R,� as her dad described it. As classmates zoomed past, slinging heavy backpacks, Yali couldn’t hold her head up.

A month before, the 11-year-old could jump out of her mom’s car and run into school like other kids. Now, she could barely walk. Seemingly overnight, her symptoms had taken over.

On April 15, 2022, Yali’s sore neck quickly morphed into trouble walking while trying to keep her head up. After several doctor visits in their home state of Georgia, Yali was diagnosed fairly early with DYT1 dystonia, or generalized dystonia, thanks to a pediatric neurologist in her hometown.

As her symptoms grew worse, Yali and her parents became discouraged. But they knew they had to explore all options to help her reclaim her life.

Understanding dystonia

DYT1 dystonia is a neurological movement disorder characterized by involuntary muscle contractions and odd head and neck movements. The contractions may force the body into repetitive, twisting, and oftentimes awkward postures. For the 30% of individuals with the TOR1A gene variant who develop this type of dystonia, the average age of onset is 12.

The diagnosis can be hard for patients and families to handle.

“Imagine you are a normal, healthy child, and then all of a sudden, you start to have muscle contractions or movements you cannot control,â€� said , a BOBÌåÓý nurse practitioner and a key player in Yali’s treatment. “Imagine you are a parent with a child who was healthy and all of a sudden is developing an abnormal posture and movements.â€�

This was the family’s unsettling new reality.

“It was difficult to accept her diagnosis, given that her initial symptoms were not classic with generalized dystonia. Several other specialists that examined Yali had doubts as well, whether this was the case,� said Kobi, Yali’s father.

Yali initially received multiple treatments for her symptoms and to rule out other causes. In addition to physical therapy and alternative medicine, her treatment included oral medications and botulinum toxin injections, or Botox. However, these treatment options provide limited relief and can even cause side effects. Despite these various treatment attempts, Yali’s condition worsened.

Moving forward with a huge leap of faith

In November 2022, Yali’s family sought a second opinion and met with Dr. Nutan Sharma, a neurologist and world-renowned movement disorder specialist in Boston who evaluated Yali and confirmed her diagnosis.

Among the different treatment options discussed, Dr. Sharma, together with another expert, professor Hagai Bergman, who was counseling Yali’s family for the last two years since her diagnosis, recommended they consider deep brain stimulation, or DBS. DBS therapy uses a device to send electrical signals to specific parts of the brain that control movement, pain, mood, and other functions. This therapy can help when other treatments don’t.

After meticulous research of other institutions and programs, and backed by warm recommendations from their consultants, the family decided to move forward with DBS therapy at the .

“Having the unwavering support and encouragement from our two consultants, both recommending a highly regarded center that was fairly close to home, given the commitment involved, allowed us to look no further than BOBÌåÓý,â€� said Illy, Yali’s mother.

In February 2023, Yali and her parents met with Aparna Shukla, MD, a BOBÌåÓý neurologist specializing in movement disorders at the Fixel Institute.

Dr. Shukla’s vast experience with dystonia and her attentive listening and professionalism made us confident that we were in the right place,� Illy said.

Yali then underwent a two-day DBS evaluation to confirm she was a good surgical candidate. She saw BOBÌåÓý professionals in neurology, neurosurgery, psychiatry, psychology, occupational therapy, physical therapy, speech therapy, dietetics, and social work.

Though the screening was intensive, Yali’s family found that BOBÌåÓý made it feel seamless.

“The whole team is tied up with the philosophy that the patient is the sun, and the whole health care team orbits around it,� Kobi said. “Followed by the leadership of Michael S. Okun, MD, and Kelly D. Foote, MD, that concept trickles down to each team member at Fixel.�

As a father of young children, Justin Hilliard, MD, Yali’s neurosurgeon and DBS specialist at BOBÌåÓý, could relate to the gravity of the decisions the family grappled with.

“Naturally, when you’re considering letting somebody operate on your 11-year-old daughter, it’s a big decision and commitment for a parent,� Dr. Hilliard said.

Meeting Dr. Hilliard helped ease this tough decision for Yali’s family.

“When you meet a dedicated, young, highly accomplished neurosurgeon that is yet humble, accessible, and compassionate as Dr. Hilliard, you know you are in good hands,� Kobi said.

The actual procedure

After all the screenings, exams, and the consideration of the risks and benefits involving the procedure, Yali was cleared for DBS treatment. The treatment requires two surgeries to place both parts of the neurostimulator system.

In Yali’s first surgery, the DBS leads, or electrodes, were guided to be placed on both sides of her head, based on planning done on a preliminary MRI of the brain. After recovering for one night in the hospital, Yali went home for further recovery and came back in one week for the second surgery to implant the pulse generator.

The next week, in a shorter operation, the pulse generator was surgically implanted in the abdominal area and connected to the DBS electrodes. Once connected, electric pulses travel from the neurostimulator, along the extension wire, to the lead, and into the brain. These tiny pulses interfere with and block the electrical signals that cause dystonia symptoms.

After recovering from surgery, Yali returned to BOBÌåÓý a week later to turn on the stimulator and adjust it. This process, called programming, can take six to 18 months before results are seen.

Through prior discussions with the medical team, Yali and her parents knew that it would take some time to see any changes. Still, they didn’t grasp how tough the wait would be.

The wait

“It is not like a light switch in which you turn it on and it works right away,� said Zeilman, her nurse practitioner. “There are thousands of possible parameter combinations, and you have to give each combination time to see if that setting will work for the individual.�

After several months of visits to the Fixel Institute, there was no noticeable improvement.

In fact, four months after the operation, Yali’s condition had become “the worst of the worst,� as her mom recalled.

“There were nights without sleep. There were nights with a lot of crying,� Illy said. “And that scene, when you see your child walk with her neck and face buried in the ground, she’s barely making it, and your heart goes to her. It’s not easy for a parent to see that.�

For many patients, this trial-and-error programming is the hardest phase of DBS therapy. Yali and her family were frustrated as they waited for even a hint of improvement.

Still, her dedicated doctors and team members throughout that time helped the family keep faith, reassuring them that progress would take time.

Yali’s family was fortunate to be supported by a dedicated community of colleagues, friends, and family around the world who provided them with an endless amount of encouragement, prayers, and visits. In addition, a major factor in Yali’s support system was her middle school. Her principal, vice principal, teachers, and staff have all gone beyond the call of duty to keep her uplifted, progress, and excel during this challenging time.

It helped her stay overwhelmingly positive, even during the hardest parts of treatment. Throughout her journey, Yali’s contagious smile persisted, becoming the signature sign of her unique, inspiring personality.

“I’ve interacted with many parents of children with serious illnesses over the years, but the relentless pursuit of excellence, optimism, and balance of Yali is exceptional,� Dr. Hilliard said.

Major strides toward recovery

Seven months after the procedure, with continued prayers and hours of physical therapy with her dedicated personal trainer, Lorie, and many trips to Gainesville later, Yali could finally lift her head without support. But the real improvements were yet to come.

By the end of November 2023, Yali had fewer spasms, slept better, and could walk more easily. By December, she could walk short distances independently, a huge accomplishment as she was previously reliant on her walker preoperation.

Now, more than a year after her DBS surgery, Yali is upright walking, and even running, without a walker at all. She continues to improve with each visit, Zeilman said. In her bi-monthly trips to the Fixel Institute, Yali’s physicians and team members fine-tune the neurostimulator settings to further improve her posture, walking, and function.

Yali is enjoying life again: She plays the drums, swims, and hikes with friends and family. Now, two years since her symptoms first started, she is back to doing what she loves, riding her bike with her family on the river trail.

From their initial meeting with Dr. Shukla to their continued care with BOBÌåÓý, Illy and Kobi say they are grateful they placed their trust in BOBÌåÓý.

“BOBÌåÓý was there when we needed them most. From their world-renowned providers, including the physician’s assistants, therapists, and support staff, they are all focused on their patients and putting them as their first priority. They have always kept an open line of communication with us. And in addition to their expertise, their sensitivity, compassion, and empathy is second to none,â€� Kobi said. “We felt that we were in the best place we could’ve found to get Yali the outcome that we wanted.â€�

To express their gratitude and great respect for their doctors at the at BOBÌåÓý, Yali’s family has established a fund named the This fund is aimed at helping other patients of dystonia and their families to support treatments that are not covered by insurance, including assistance with travel, lodging, and meals.

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