The Carkhuffs’ journey to find answers for their son involved relocating their family 1,600 miles away from their home in Pennsylvania to Houston, Texas, where they found hope. Houston has been home to the family for the past 16 years, and it was in Houston where they found the doctors that would forever change Evan’s life and lead him on a positive trajectory.
Not only did Evan’s neurology team affiliated with Children’s Memorial Hermann Hospital and UTHealth Houston accurately diagnose the mysterious condition that caused his weak muscle tone, they also treated his seizures with a new innovative approach, enabling him to live a seizure-free life. Once his seizures were treated, everything else seemed to fall into place. At 14, Evan had scoliosis surgery to correct a 72-degree curvature in his spine. It was a procedure he needed, but one that had to be postponed for a while until his doctors could get his seizures under control.
Today, Evan is living without seizures and he can move around freely without a wheelchair. Evan’s incredible outcome is a culmination of the care, collaboration and dedication of his multidisciplinary team that went beyond just treating Evan, the patient. They ensured his other needs were met, too.
The beginning of the journey
When Evan was born on September 22, 2005, in their hometown of Northampton, Pennsylvania, Kyle and Tina knew instantly something was wrong, but they didn’t know what it was specifically.
“Evan had a hard time swallowing,” said Tina. “He had low muscle tone. When you held him, his body was unusually floppy and his facial features were different. Even when I was pregnant with Evan, he hardly moved like my older son who was consistently active. We kept asking the pediatrician what he thought, and he said that some babies take longer to reach their milestones. After four months, the pediatrician referred us to a pediatric neurologist.”
At 4 months old, Evan began seeing a pediatric neurologist in Philadelphia who recommended that he begin physical and occupational therapies to strengthen his muscles. Evan began therapy when he was 6 months old. At age 2, he began speech therapy due to his significant language delays.
“Also, our son went through a lot of genetic testing,” said Kyle. “They tested him for Fragile X and Marfan syndrome. They tested him for so many different things. The biggest challenge when you have a child who has a set of symptoms is that those symptoms could belong to any number of diseases or genetic conditions. After testing Evan for hundreds of diseases, every test came back negative.”
Then, when Evan was 16 months old, he had his first seizure.
His doctors in Philadelphia told them Evan’s seizures were probably due to a high fever. But the Carkhuffs weren’t convinced. Between 17 months and 3 years of age, Evan was seizure-free. But, once they started up again, the seizures got quickly and progressively worse.
Evan had grand mal seizures, a type of seizure that involves a loss of consciousness and violent muscle contractions, that seemed to only resolve with the help of rescue medication. There were several times he was hospitalized for seizures that lasted for hours without stopping, even after several doses of medication. Evan also had smaller seizures and he eventually needed additional medication to prevent them from turning into larger seizures.
At his worst, Evan was having over 200 seizures a month. His doctors in Philadelphia didn’t have answers but they knew his seizures could end up becoming problematic. And with Evan’s autism diagnosis and other symptoms — low muscle tone, strabismus, swallowing problems, vomiting and diarrhea — it was hard for the Carkhuffs to know which medical specialists to turn to. Evan’s pediatric neurologist in Philadelphia encouraged the Carkhuffs to move to Houston, which is home to the largest medical complex in the world. He recommended the Texas Medical Center because they treat children with highly complex medical conditions. The family moved to Texas in 2007.
Their first neurologist in Houston at another hospital wanted to repeat all of Evan’s testing. “But there comes a point where you can’t put a child through so much testing. It was very frustrating and tiring for all of us. We did not have a lot of success and could not get a diagnosis. Then, we heard from other special needs families about Children’s Memorial Hermann Hospital,” Tina said.
A game changer: A collaborative approach
After living in Houston for about three years, the Carkhuffs both continued their professional careers at Children’s Memorial Hermann Hospital. Tina was director of infrastructure in the IT Department and Kyle was a director in the Security Department. One day, Tina came across an employee newsletter featuring a story about a little boy who had similar distinct facial features to Evan. The child was diagnosed with autism and cerebral folate deficiency (CFD), a rare neurological syndrome caused by vitamin B9 deficiency. Many children with autism have low folate in their brains and folate is crucial in brain development. The symptoms of CFD include intellectual disability, speech difficulties and development of recurrent seizures – all symptoms that Evan had.
“We scheduled a visit with the same pediatric neurologist who had treated this child with the Children’s Neuroscience Center at Children’s Memorial Hermann Hospital,” said Tina. “The moment the neurologist saw our son, he was confident he knew what Evan had before he tested him. He ordered a blood test that was done by a research doctor at his academic lab at State University of New York (SUNY) in Brooklyn. Testing for CFD was a new at the time and this was the only lab in the country performing it. It took about four to six weeks before Evan’s pediatric neurologist got the results back. Once he confirmed Evan had CFD, he put him on a medicine called leucovorin calcium, which is also used to treat certain types of cancers. Evan started treatment with the new medicine, and within two weeks, we saw Evan improve. The hypotonia started getting better. His muscles were not as weak. When he was 3-and-a-half-years old, he started walking, which was a miracle. We had a new sense of hope for our son.”
Next, Evan’s pediatric neurologist, who primarily treated Evan for CFD and autism, referred the family to affiliated physician Gretchen Von Allmen, MD who began treating Evan for his intractable seizures, seizures not able to be significantly controlled with medication. Dr. Von Allmen is a professor and director of child and adolescent neurology at McGovern Medical School at UTHealth Houston and chief of pediatric epilepsy at Children’s Memorial Hermann Hospital.
Treating Evan’s epilepsy
By the time Evan saw Dr. Von Allmen, he had been on multiple anti-seizure medications. But they had serious side effects, and some caused very negative behaviors in Evan.
“Trying to get Evan’s seizures under control and his behaviors to be more acceptable for a child with autism was a challenge,” said Tina. “The combination of some of his medications lowered his heart rate to the point where he was dysfunctional. So, Evan needed someone who could focus specifically on his epilepsy. Dr. Von Allmen got him to a point where his behaviors improved with a combination of changes in his medications. He began taking a new medication which was effective in reducing his seizure episodes. Evan was not seizure-free, but he had significantly fewer seizures.”
“Since Evan had intractable epilepsy where his seizures could not be completely controlled by his medications, we couldn’t leave his side since his seizures could happen at any time,” said Kyle. “We worked with the school district to allow Evan to have his rescue medications with him at all times, and anybody who dealt with Evan had to understand how to administer it to him. We couldn’t go on vacation. We couldn’t fly. There were a lot of limitations for our family because of his condition.”
A new treatment approach
Evan’s epilepsy team looked at different approaches to treat his seizures in tandem with the medications he was currently prescribed. After presenting his case at an epilepsy surgery conference with neurosurgery, neurology and radiology affiliated providers involved, the group determined Evan would be an excellent candidate for vagus nerve stimulator (VNS) therapy. When used along with epilepsy medication, VNS therapy can prevent or shorten the length of seizures.
“VNS is a potentially beneficial treatment for epilepsy patients. A stimulator is implanted to deliver regular, mild pulses of electrical energy to the brain and reduce seizures,” said Dr. Von Allmen. “The device delivers electrical pulses to the vagus nerve in the neck, and the vagus nerve carries those pulses to the brain. The VNS is set to different levels and these pulses are delivered throughout the day to help prevent seizures. If a seizure is about to happen, the VNS will sense this and will send out extra electrical pulses to either prevent the seizure or make it less severe.”
Dr. Von Allmen referred Evan to Manish N. Shah, MD, associate professor at UTHealth Houston and pediatric neurosurgeon affiliated with Children’s Memorial Hermann Hospital, who performed the outpatient VNS implantation procedure on 14-year-old Evan in December 2019.
“We implanted the VNS device under the skin on Evan’s chest and threaded a wire to connect the device to the left vagus nerve,” said Dr. Shah. “Once we activated the VNS device, it sent electrical signals along the vagus nerve to certain parts of his brain. VNS can take a minimum of a few months to have an effect on a patient’s seizures, with better response over time. But eventually, VNS trains the brain not to have those seizures."
Evan’s quality of life improved tremendously after VNS surgery.
“After Evan’s surgery, we started seeing a decrease in the amount of grand mal seizures but we also saw the absence of all those smaller seizures,” said Tina. “While we did see some seizures after the VNS surgery, we are now at a point where he has not seized at all in over two and a half years. Dr. Von Allmen is now able to wean him off a few of his seizure medications.”
Overcoming one more hurdle
As Evan got older, Tina and Kyle noticed their son’s spine was crooked and that sometimes when he walked, he would fall over if he leaned to one side too much. In 2018, Dr. Von Allmen referred Evan to Shiraz Younas, MD, associate professor at UTHealth Houston and pediatric orthopedic surgeon affiliated with Children’s Memorial Hermann Hospital. After reviewing his X-rays, Dr. Younas diagnosed Evan with scoliosis. His case was very complex. Evan had a significant 72-degree curvature of his spine which would require surgery.
“Dr. Younas said there were no non-surgical treatments for Evan,” said Tina. “He said in less severe cases, they might try a brace or some other type of physical therapy but Evan’s autism and seizures made these a bit harder to do because of his lack of ability to understand and be compliant. He felt like surgery was the best option but he wanted to see how Evan grew before we actually did the surgery. He said it was possible the curve may stop progressing, but instead of staying stable, it got worse. In order to have the surgery, he had to wait until his seizures were under control.
Once his seizures were controlled, Evan had back surgery six months after the VNS to correct the curvature in his spine. “Evan spent a lot of time in a wheelchair because of his curvature,” said Kyle.
Prior to back surgery, a patient will undergo an MRI of the spine so the surgeons know exactly what area to target. The VNS device is not compatible with an MRI machine so Dr. Younas was unable to obtain advanced imaging prior to surgery. Also, due to the risk of seizures, Evan’s nerves had to be monitored directly without the typical neuromonitoring that can be used during surgery. The team’s collaboration and prior research made Evan’s back surgery feasible.
“Back surgery can be a long surgery and we wanted to make sure Evan’s seizures were controlled because you don’t want a child to seize during this surgery,” said Dr. Younas, “Evan’s scoliosis surgery was more complicated because we didn’t have the MRI data. Instead, we had to hook each nerve in his spine to a lead and view it on a computer screen to give us an idea of where to place the metal rods to straighten his spine. During the procedure, his VNS was turned off. The stimulator manufacturer was present and provided technical recommendations. It was a complicated surgery, but because of the team approach beforehand, Evan’s surgery went as well as it did.”
A magical journey
Without seizures and without having to rely on a wheelchair, Evan is such a happy kid.
He wakes up happy every day. He loves school, his dogs, and his family. He loves to be the center of attention and make people laugh. There is no end to Evan’s happiness.
The Carkhuffs attribute a lot of that to the specialized care he received. Evan’s care providers at Children’s Memorial Hermann Hospital were not only skilled; they treated him with dignity and respect throughout. Everyone was very caring and supportive.
“What is so special about Children’s Memorial Hermann Hospital is that they treat the entire patient. Every doctor we encountered – whether it was for epilepsy, scoliosis and autism –looked at Evan as a whole person. Dr. Von Allmen, Dr. Shah and Dr. Younas have been willing to consult and talk about their area of expertise with each other. Dr. Von Allmen talked to Dr. Younas about how epilepsy could be affected by anesthesia and Dr. Younas wanted to know about VNS so he could modify his surgical approach. They communicated exceptionally well and took every precaution to keep Evan safe. The entire care team’s collaboration, their skill and their interest in helping their patients is what made this such a magical journey. We are filled with hope and we know his care team is happy to see Evan’s accomplishments as much as we are.”
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