From Diagnosis to Recovery: Taylor’s Fight Against NF1 and Moyamoya

In his 15 years, Taylor Neugent and his mother, Randi, have been through more hard times than many people would in a lifetime. Born with a rare genetic disease, Neurofibromatosis type 1 (NF1), Taylor has endured numerous serious illnesses and surgeries. But when he developed new and worrying symptoms, Taylor faced yet another massive hurdle.

What is Neurofibromatosis type 1 (NF1)?

Neurofibromatosis type 1 (NF1) is a genetic disorder that leads to the growth of tumors along the nerves. These tumors are typically benign (non-cancerous) but can cause a variety of symptoms. NF1 is present from birth, though some symptoms may develop slowly over time. The condition’s severity can vary greatly among individuals.

Commonly, the skin is affected, leading to symptoms such as:

• Birthmarks called café au lait spots, which are light or dark brown patches that can appear anywhere on the body.
• Soft, benign tumors on or under the skin (neurofibromas).
• Clusters of freckles in unusual places, such as the armpits, groin, and under the breast.
• Issues with the bones, eyes, and nervous system.

NF1 is often linked with certain health problems, like learning difficulties. In rarer cases, it can be associated with a type of cancer known as malignant peripheral nerve sheath tumors.

Taylor was diagnosed with NF1 at six months old when he was taken to see an orthopedic doctor at Oklahoma Children’s Hospital, for an abnormality with his left leg. After treatment for Taylor’s leg abnormality failed, his foot was amputated when he was age five.

At 22 months old, Taylor was diagnosed with a malignant triton tumor in his abdomen. A malignant triton tumor is a rare, fast-growing cancer that forms in the protective covering around nerves outside the brain and spinal cord. It consists of Schwann cells (which support nerve cells) and rhabdomyoblasts (a type of muscle cell). This type of tumor is most common in people with NF1.

Currently, there is no cure for NF1 and management focuses on regular monitoring and addressing any issues as they arise.

An Emergency

When Randi Neugent and her fiancé went out for dinner on Friday night of the 2022 Memorial Day long weekend, Taylor was happy to stay home with his older brother to play video games. Upon arriving home later that evening, Taylor told his mother that he had a tingling sensation in his left arm. As he’d been playing video games for hours, Randi was confident the tingling was due to lack of movement.

Randi awoke the next morning and Taylor was already up, playing video games. She asked him if he would like a hot drink, and his response was unintelligible gibberish. Randi noticed that the left side of Taylor’s face was drooping, and she knew that whatever was going on with her son must be neurological. Brain tumors are reasonably common with NF1, so Randi drove Taylor straight to Oklahoma Children’s Hospital OU Health, dreading more bad news.

The Diagnosis

Taylor’s left side was weak, but he was able to walk into the emergency room. As he was being prepared for a CT scan Taylor started having severe seizures, and from that point, he was almost totally paralyzed on the left side of his body. Scans revealed that Taylor had a stroke, and he was sent to the intensive care unit. Further testing over the next few days revealed that the stroke was caused by a neurological condition called Moyamoya disease.

Moyamoya disease is a rare condition where the carotid artery inside the skull becomes narrowed or blocked. This artery is vital as it supplies blood to the brain. When it is obstructed, blood flow to the brain decreases, prompting the formation of tiny blood vessels at the brain’s base to compensate.
This disease can lead to transient ischemic attacks (TIA; ministrokes) or full strokes and may also cause brain hemorrhages. It can affect brain function which results in cognitive and developmental delays or disabilities.

Moyamoya disease can occur at any age, but symptoms are most seen in children ages 5 to 10 and adults ages 30 to 50. It is also more common in people with NF1. The condition occurs worldwide but is more common in Korea, Japan, and China, likely due to genetic factors in these populations.

Symptoms of Moyamoya Disease

The symptoms of Moyamoya disease vary between adults and children. In children, the first symptom is usually a stroke or TIA. Adults may also experience these symptoms, but they are more likely to suffer from brain hemorrhages, known as hemorrhagic strokes, due to the abnormalities in the formation of blood vessels in the brain.

Symptoms related to reduced blood flow to the brain include:

• Headaches
• Seizures
• Weakness, numbness, or paralysis in the face, arm, or leg, typically on one side of the body
• Vision problems
• Difficulty speaking or understanding speech (aphasia)
• Cognitive or developmental delays
• Involuntary movements

These symptoms can be triggered by activities such as exercise, crying, coughing, straining, or having a fever.

After seven days at Oklahoma Children’s Hospital Taylor was sent to Bethany Children's Health Center where he received a month of rehabilitation to help him regain the use of the left side of his body.

Surgical Intervention

Randi and Taylor were referred to OU Health pediatric neurosurgeon Dr. Andrew Jea, M.D., professor and Chair of the Department of Neurosurgery at the University of Oklahoma College of Medicine, for surgery to treat Moyamoya.

“When we first examined Taylor, it was clear that his blood vessels were significantly narrowing,” said Dr. Jea. “The body’s natural response to this condition is to seek alternative blood supplies. Given enough time, a patient with Moyamoya disease can develop new blood vessels from the surrounding areas, such as the brain’s covering, the bone, and even the muscle and skin outside the bone. These new vessels form channels through the bone to help supply the brain with blood. The problem is that while the new blood vessels are forming, the patient is at risk for developing repeated strokes.”

As Taylor had already had a stroke it was important that he had surgical intervention to reduce the risk of further stroke. In early 2023 Taylor was scheduled for surgery.

“When Dr. Jea came in to see us in the holding room, just prior to the first surgery, he asked me if he could pray with us,” said Randi. “As a woman of faith, there is nothing that gives me more confidence than that. For someone who is so skilled at his job, there is absolutely no ego — he is so humble and compassionate. He didn’t speak to me like I was stupid — he explained everything thoroughly and told me exactly what he would do in the surgery. I felt like I could trust him with my son.”

During the procedure surgeons preserve a blood vessel in the scalp, which is located just beneath the skin’s surface, along with the muscle in that area. An opening is created in the skull and the membrane covering the brain.

The outer part of this membrane is rich in blood vessels, while the inner surface facing the brain has fewer vessels. The preserved blood vessel from under the skin is placed on the brain and stitched in place. Next, the membrane is flipped so that its vascular surface contacts the brain, and another soft tissue layer called the paracrine gum is placed just beneath the scalp, onto the brain.

This approach brings an immediate blood supply to the brain and although it takes time for the brain to grow new blood vessels to nourish its deeper parts, this method accelerates the process by 5 to 10 years.

As Taylor also had Moyamoya on the left side of the brain he had the second successful surgery in June 2024.

Looking Forward

Taylor has recovered well from his surgery and is living life to the fullest.

“Taylor is so smart,” said Randi. “My hope for him is that he will experience as much independence as possible and that he will use the gifts God has given him to help others.”

Taylor visits the Neurofibromatosis clinic at Oklahoma Children’s Hospital which brings together all the specialists he needs to see, all in one place. Dr. Jea explained that with this condition, forming tumors around the spine or extremities is the most common problem, and the clinic has tumor doctors, neurosurgeons, and neurologists, who monitor kids with these complex conditions.

“At Oklahoma Children’s Hospital, we pride ourselves on our expertise in pediatric neurosurgery, with a combined experience of over 50 years,” said Dr. Jea. “While it may seem that there aren’t many complex cases like Taylor’s, especially those with Moyamoya disease, we know from statistics that these patients do exist in our state. Currently, many families are traveling long distances for treatment that they could receive right here at home.

We believe strongly in a team-based approach to treatment. Our clinics bring together various specialists to see patients together. We’ve established a neurovascular clinic attended by experts in neurology, neurosurgery, hematology, endovascular surgery, and ophthalmology. This comprehensive care, all in one visit, is something that even the biggest name children’s hospitals may not offer.”

Learn more about our pediatric neurology and neurosurgery services and treatment, request an appointment or get a second opinion, or find out more about the neurosurgical team at Oklahoma Children’s Hospital OU Health by calling (405) 271-2244.