Ryan, 10 years old, wondered if he would ever get the chance to play the game he loves so much after a rare neurological movement disorder call dystonia changed his young life. He went from being a rough and tumble multi-sport athlete to using a wheelchair to get from class to class in his elementary school.

Ryan became the 100^th patient at Cook Children’s to receive deep brain stimulation(DBS) surgery on Monday, Nov. 30, 2015. The surgery was performed by John Honeycutt, M.D., Cook Children’s medical director of Neurosurgery.

Nearly two year later, it’s hard to imagine this little boy once struggled to walk or hold a pencil in his right hand. The successful DBS surgery has brought him back to the normal the Conder family knew before DBS robbed him of his childhood for more than a year.

“I’m the happiest mom in the whole wide world,” Kayla, Ryan’s mom, said. “When he first got diagnosed we were shocked and it was really hard because we had to have help with almost everything. But now he doesn’t need help or want help. I’m just so excited and really amazed. I’m very thankful because he’s like he was before.”

Last year as Ryan his family wait out in the lobby for their appointment, Dr. Honeycutt happens to walk by on his way into the Jane and John Justin Neurosciences Center. After a couple of steps, he realizes who he has passed and stops in his tracks. He comes back to say hello and marvels at the success of Ryan’s surgery.

“It’s a modern medical miracle,” he tells Kayla.

Then it’s time for a visit with Warren Marks, M.D., a neurologist and medical director of the Movement Disorders and Rehabilitations Programs at Cook Children’s. He sees Ryan every three months.

Ryan spent significant time with Dr. Marks before and after surgery at the Cook Children’s Motion Lab, which is equipped with technology that enables a specialized team the ability to analyze the unique movement of each individual patient and plan a treatment plan for them.

Ryan goes through a routine checkup with Dr. Marks. Then they go out to toss a rubber ball to each other. Dr. Marks leaves the game for a bit and gets a reflex hammer that he uses as a make-shift bat. They are having fun and both are in a great mood.

“This is so rewarding. This is why you have a DBS program because you get kids like this," Dr. Marks said. They come back to being completely normal kids. They come back to doing everything they were doing before the surgery. Everything they want to do. It’s perfect.”

Ryan has been cleared to play baseball, basketball and at recess. He’s not allowed to play contact sports like football or soccer. But he does take his football to school to play catch.

His friends call him the robot because of the surgery that includes two battery-operated pulse generators, much like pacemakers, implanted near the collarbone. Ryan doesn’t mind the nickname at all. He kind of enjoys it.

He shows his friends a video Cook Children’s made as it followed Ryan toward his surgery last year. And what do they say?

“They are like, ‘Wow. It’s amazing what modern technology can do these days,” Ryan said.

Did we mention he’s a really funny kid? Even during his worst days, he maintained his sharp sense of humor. But now the smiles come much easier to everyone in the household and even the tears aren’t so bad lately.

“When he was looking at the video the other day, every time I watch it I cry because I get to see where he was and where he is now,” Kayla said. “It’s not crying because I’m sad. It’s crying because I’m happy. I tell him, ‘Ryan I love watching it but it makes me cry.’

Kayla noticed something was wrong with her little boy around September, 2014. She noticed Ryan running differently than normal during one of his baseball games.

When asked what was going on, Ryan said he couldn’t help it. Then after noticing that his toes on his right foot were curling in, Kayla took her son to the family doctor.

Kayla remembered she had cousins who had dystonia and called her aunt to talk to her about it. After the conversation, Kayla arranged a referral to see Dr. Marks.

Dr. Marks commented that Kayla reminded him of someone and then as they talked, he found out that one of her cousins was not only a dystonia patient, but the first one that Dr. Marks treated at Cook Children’s who had deep brain stimulation surgery performed on her. The surgery was done 15 years ago before Cook Children’s began its own DBS program.

After an initial diagnosis, Dr. Marks verified that Ryan had a genetic version of dystonia.

Dystonia is a disabling disease and sometimes painful condition that limits children in many ways, impacting motor, cognitive and social development. Because medications have a limited effect on most forms of dystonia, Cook Children’s began a Deep Brain Stimulation Program of its own in 2007.

Kayla admits to being scared and nervous at the unknown of surgery. But after talking to Dr. Marks and his team, she hoped this would be a fresh chance for Ryan to return to the little boy he was before dystonia began to take over his body.

Ryan walked with his right foot on his toes and his right arm is now curled in, making it difficult to use. She hoped for Ryan to be able to walk and run like before, but also to use his right hand to write. He had to dictate his work at his elementary school.

Kayla said the hardest part was watching the things Ryan could do and how active he was, playing sports and being a typical little boy, to where he needed help walking, taking a shower or cutting up his food.

But that was then. Now Ryan is back to being the fun-loving, sports playing, ornery little boy he was before the surgery.

“The best part of all this … he’s right there,” Kayla said pointing to Ryan. “He’s walking, running and jumping. He’s able to take care of himself. No parent ever wants to see their child go through what Ryan went through. But hands down, we got more than we ever imagined.”

Learn more:

• What Is Deep Brain Stimulation?
• What Is Dystonia?
• The architect: Warren Marks, M.D.
• The surgeon: Helping kids like his own
• Cook Children's Motion Lab
• Cook Children's Movement Disorders Program

What are some of the presentations of SCN2A-related disorders? Children with SCN2A can often present with epilepsy which may manifest in several levels of severity. SCN2A was first discovered as a cause of benign familial neonatal infantile seizures (BFNIS), a syndrome presenting in multiple family members with seizure onset as neonates and infants with normal developmental outcome and good seizure control. Later, SCN2A was discovered as a cause of infantile spasms and other early onset severe epilepsies of childhood, the so-called early infantile epileptic encephalopathies. SCN2A has been implicated as one of the causes of Ohtahara Syndrome, Dravet Syndrome, Migrating Partial Epilepsy of Infancy and West Syndrome amongst others. Finally, SCN2A has been found to be a major cause of intellectual disability, schizophrenia, and autism which may occur in the absence of epilepsy.

What is the cause of SCN2A-related disorders? SCN2A is a gene which encodes a sodium channel found within the initial segments of neurons. This location is important to determining whether a neuron will generate a signal or not, thus a reason mutations can present with neurological symptoms. Most mutations in SCN2A are de novo, meaning they occur spontaneously and were not inherited from the parents. This is often the case in more severe disease presentations. SCN2A may be inherited in an autosomal dominant manner in more benign presentations such as BFNIS.

How are SCN2A mutations diagnosed? Diagnosis is made using genetic testing in patients with appropriate clinical features. MRI is often normal and EEG findings may vary.

Is there a treatment for SCN2A-related disorders? Unfortunately, there is not yet a cure for SCN2A-related disorders. Certain sodium channel drugs (for example, phenytoin, lamotrigine) have demonstrated more favorable responses for seizure control in some patients, while in others sodium channel drugs may aggravate seizures. This may be due to how the mutation impacts the function of the sodium channel (gain of function versus loss of function). Aggressive control of seizures with a clear rescue plan for prolonged seizures is important. Other manifestations such as movement disorders, dysautonomia, and neurobehavioral manifestations can be managed to some degree with medications and therapy.

What other problems might be found in patients with SCN2A disorders? In addition to epilepsy and developmental delays, other manifestations of SCN2A can include movement disorders such as dystonia, abnormal gait, ADHD, autism, dysautonomia (i.e. problems with heart rate, blood pressure, and temperature regulation), and GI problems such as feeding difficulties or reflux.

For more information about SCN2A and SCN2A Awareness Day, visit www.scn2a.org.

Today, Dr. Marks looks back at that time as “an interesting diversion,” but it really helps explain who the man really is. After all, he’s built one of the nation’s most highly successful comprehensive clinical centers for pediatric movement disorders.

Dr. Marks, who is one of the first two Endowed Chairs at Cook Children’s, has molded a program where Cook Children’s deep brain stimulation serves as the centerpiece.

Most recently, Dr. Marks has seen the end of years of work with the addition of Cook Children’s Motion Lab, which sees children, teens and young adults who have a variety of complex movement disorders, including cerebral palsy, dystonia and traumatic brain and spine injuries.

He just keeps on adding to a legacy where he has brought together the most advanced technology with a kid-friendly atmosphere.

When he was a kid, Dr. Marks loved science and became fascinated with the brain and how it works. When he entered Texas Christian University, Dr. Marks considered a career in chemistry, earning a Bachelor of Science degree from TCU, and then he took that year to pursue architecture.

But once he entered Texas Tech University School of Medicine, Dr. Marks’ life’s work began to take focus. During his training he returned to studying the brain and found he had no choice but to make his career helping children.

“I always liked it that if you are going to do pediatrics, you know it up front,” Dr. Marks said. “If you look at the personality inventory of pediatricians, they don’t look like the rest of the physicians, they look like social workers. I talk to medical students when I have them over at the office and the ones that are going to go into pediatrics have no doubt that’s what they are doing. The ones who have hesitation about it are usually not destined to go into pediatrics.”

Dr. Marks joined Cook Children’s in 1988 and today serves as the medical director for the Movement Disorder and Neurorehabilitation Program.

Dr. Marks said he loves the multidisciplinary approach he finds at Cook Children’s, often working directly with rehabilitation therapists, orthotists, neurosurgeons, orthopedists and others. He has developed several multidisciplinary rehabilitation teams, including the transitional care unit, and specialized multidisciplinary clinics that have been developed for children with spasticity, movement disorders, and neuromuscular disorders.

“You have different people coming from different backgrounds,” Dr. Marks said. “Everybody’s perspective is different and we are all bouncing ideas off one another. It’s one of the great things about Cook Children’s.”

Dr. Marks said that team approach creates better care for patients. He said the goal of the neurology team at Cook Children’s is not just to treat children or find a quick fix, but to make their overall quality of life better. He calls this an exciting time for the Neuroscience Program at Cook Children’s, exploring new and innovative approaches to complex patient issues such as movement disorders and epilepsy.

“We are doing as much as anybody and more than most in the country when it comes to improving children’s lives,” Dr. Marks said. “We continue to expand our offerings. We continue to push the limits of treatment. In the future we will have the ability to treat more children and more complex neurological diseases and make them even better. I’m really excited about our ability to bring these new and innovative approaches to solving some very complex issues.”

During his tenure, Dr. Marks remembers fondly certain patients and how to see their lives dramatically impacted. He recalls sisters he treated who went from being bed ridden to being in wheel chairs to dancing at their senior prom and eventually getting married, leading normal and productive lives.

“Those are the stories you look back and say, ‘Man was I lucky.’ You found the magic key for those kids.”

“People told me everybody wants to work in pediatrics until you have kids,” Dr. Honeycutt said. “They said, ‘Then you won’t want to work on kids any longer. It will be too much.’ But it was the exact opposite. When I had my own kids I realized even more this was what I wanted. I wanted to help kids like my own. It gave me much more empathy. It made it much easier to take care of them. In my line of work, I’m asking parents to hand their kids off to me and take care of them. They entrust their kids’ lives in my hands and I understand that.”

As a teenager, Dr. Honeycutt saw first-hand the role a surgeon can play in helping a family after a traumatic event.

One afternoon in his hometown of Paragould, Ark., while “horsing around” after football practice, the then 15 year old broke his neck.

A surgical scar remains on Dr. Honeycutt’s neck and so do the memories of his time in the hospital. He describes the scene at the time like what you would see in a bad TV movie as he was placed in traction.

As a patient, he saw physicians changing patient’s lives and making them better. The straight A student now knew what he wanted to be when he grew up.

Then during medical school, Dr. Honeycutt found his specialty.

“When I was doing my neurosurgery rotation, it all just clicked,” he said. “It clearly had all the parts I really enjoyed. I liked being a surgeon. I liked the neurosciences. I liked the workings of the brain. I just loved everything about it.”

While Dr. Honeycutt is now an experienced neurosurgeon, he still strives to be at the forefront of the latest technology and technique. Working on a child’s brain requires not only a steady hand, but the latest in state-of the-art technology.

Dr. Honeycutt and his fellow neurosurgeons use their expertise to perform the most intricate and delicate surgeries, such as deep brain stimulation, iMRI-guided surgery and laser ablation surgery.

“It’s an exciting time right now because we are learning so much about the brain and how it works and at the same time our technology continues to improve with micro instruments, with robotics and computers,” Dr. Honeycutt said. “If I don’t keep learning and keep up with what’s going on, I can get so far behind, rather quickly. One of the great things about Cook Children’s is we are always on the leading edge.”

Another aspect of Cook Children’s that Dr. Honeycutt said makes it unique is the relationship between the neurologists and the neurosciences. As surprising as it may be, Dr. Honeycutt says it’s rare for other hospitals to have the neurologists and neurosurgeons share a clinic together. He calls the working relationship between everyone involved in the Department of Neurosciences at Cook Children’s unbelievable. A lot of it has to do with that communication and the skill of the surgeons and physicians. They push each other constantly to do better.

At Cook Children’s, the neurologists and neurosurgeons can give each other immediate feedback on a patient. “You look at our situation and say, ‘Why doesn’t everyone do this?’ It’s so silly that people don’t do this everywhere,” Dr. Honeycutt said. “It’s one of the things that makes this place so special.”