Cerebrovascular Disease and Stroke
Patient Stories | Savannah and Moyamoya

Finding the Right Puzzle Pieces Key to Savannah’s Moyamoya Diagnosis

At 18, Savannah was diagnosed with a rare, progressive condition called moyamoya—a condition complicated two years later when she developed a brain aneurysm. Thanks to coordinated treatment and expert, specialized care at Cincinnati Children’s Cerebrovascular Disease and Stroke Center, Savannah is now working toward a graduate degree in health policy.

Like many young adults her age, Savannah Cawood is looking forward to starting the rest of her life. She’s going to college, participating in an internship this summer, and planning to pursue a graduate degree in health policy so she can research methods of care delivery and help create more effective and equitable laws around healthcare. 

Unlike most young adults her age, however, Savannah, 21, must navigate a rare, progressive disorder called moyamoya, which means “puff of smoke” in Japanese. 

In patients with moyamoya, the vessels that supply blood to the brain (called carotid arteries) narrow, limiting the flow of blood and increasing the risk for stroke. To compensate for this reduced blood flow, the brain grows new blood vessels, which can temporarily help increase blood supply but eventually stop working. The “puff of smoke” name comes from how these new blood vessels appear on imaging tests: as tangled and smoke-like. 

Symptoms That Didn’t Add Up

Savannah wasn’t diagnosed with moyamoya until she was 18 years old, but she received the first warning sign that something might be wrong at a young age.

Born in California, shortly after her family immigrated to the United States from South Africa, Savannah developed bacterial meningitis when she was only a few months old. She recovered from the infection and, when she was 2, Savannah and her family moved to Cincinnati.

During her freshman year of high school, Savannah began noticing what she called random symptoms. “I’d lose feeling in my hand,” she recalled, “or the side of my face would go numb so I couldn’t really talk.” Eventually, her pediatrician referred her to a rheumatologist at Cincinnati Children’s, who diagnosed Savannah with juvenile fibromyalgia—a chronic condition that causes pain in the muscles and soft tissues of the body—and enrolled her in a patient study.

Oddly, though, Savannah was also complaining of headaches, which wasn’t consistent with a fibromyalgia diagnosis. When her symptoms began interfering with her participation in the study, Savannah’s rheumatologist referred her to Cincinnati Children’s Cerebrovascular Disease and Stroke Center. 

Finally Putting the Pieces into Place

In 2020, Savannah began seeing J. Michael Taylor, MD, a pediatric stroke and neurocritical care specialist in our Division of Neurology. An MRI for evaluation of Savannah's headaches revealed a prior brain injury and an abnormality of a brain artery. Changes like this can be seen in patients with a history of bacterial meningitis, said Dr. Taylor. Savannah's symptoms over the years suggested that she was having periodic problems of inadequate blood flow to her brain, commonplace in patients with moyamoya. 

With moyamoya as the primary suspect, Dr. Taylor recommended that Savannah undergo further testing with a cerebral angiogram, which showed the appearance of moyamoya.  With the moyamoya diagnosis in hand and the evidence of a past stroke, Dr. Taylor was confident they’d finally uncovered the culprit of Savannah’s symptoms.

“We’re often able to pinpoint a suspicious time in a patient’s past that we can draw the line back to and say, ‘I bet that’s where this started,’” Dr. Taylor said. “For Savannah, all signs pointed to her having had a stroke when she was a baby with bacterial meningitis.”

Moyamoya can only be treated with surgery, which establishes a new way for blood to get to the brain. So in October 2020, Sudhakar Vadivelu, DO, director of the Cerebrovascular Disease and Stroke Center and neurosurgeon in our Division of Pediatric Neurosurgery, performed revascularization surgery. This treatment reduces the risk of stroke from approximately 80% to roughly 4%. 

Savannah’s surgery was successful. She’s never had another stroke, and her symptoms all but went away.

“After Savannah’s surgery made a significant difference in her symptoms, it makes you think that moyamoya was the explanation all along,” Dr. Taylor said.

The Quality of Life Benefit

Treating moyamoya doesn’t just dramatically reduce stroke risk and relieve symptoms, it also improves patients’ quality of life, Dr. Vadivelu said, noting that many patients report that they’re able to lead more active lives after surgery.

“It makes sense because their brains are now getting the amount of blood they need,” he said. “We’ve witnessed these kinds of outcomes subjectively—from the toddler who couldn’t speak before surgery to waking up from surgery able to speak in two-to-three-word sentences, to the high school baseball player who was suddenly able to focus and improve his grades after surgery—but now we’re trying to prove them objectively. We’re doing this by following our patients with neuropsychology assessments to measure the improvement in their neuropsychological outcomes.”

Why Follow-Up is Important

Savannah continued to have routine MRIs every six months to make sure her brain was still getting the blood flow it needed. But in May 2022, a migraine developed that sent her straight to the emergency room. 

Imaging tests showed Savannah had an aneurysm in her brain. A few months later—that September—an MRI showed the aneurysm had doubled in size, and Savannah needed emergency surgery. Dr. Vadivelu performed a craniotomy, a surgical opening of the skull, and clipped the aneurysm, which involved putting a staple around the bubble of the artery to prevent it from rupturing.

“With moyamoya, usually one surgery is all you need, but changes in blood vessels can occur over time,” Dr. Vadivelu said. “That’s why it’s important to know that even though you’re treated when you’re young and your risk of stroke is dramatically reduced, follow-up imaging is important because there can be vascular changes that develop.”

In the months following her surgery, Savannah’s life “really skyrocketed” for her, Dr. Taylor said. “Hopefully, we brought her some closure and a chance to move into a new phase.”

Casting a Wide Net in the Gene Pool

In addition to follow-up imaging and neuropsychological assessments, another way the Cerebrovascular Disease and Stroke Center team provides comprehensive care to its patients is through a new initiative they introduced in 2022 called the neurovascular gene panel.  

“There are undoubtedly more genetic factors that put people at a greater risk for having a stroke and vascular disease at a young age than we know yet,” Dr. Taylor said. “We worked with our genetics colleagues to put together this encompassing gene panel to try to target which genetic abnormalities could be causing brain vascular problems in young people.”

It’s a tool that’s increasingly becoming the standard of care for stroke and vascular patients at Cincinnati Children’s. “In Savannah’s case, what made her at greater risk to develop this?” Dr. Taylor asked. “If we connect it to the infection she had as a baby, it’s one that hundreds and hundreds of other kids have. Why was she the one to develop moyamoya? Is she uniquely susceptible because of a gene in her body?”

The panel is available to patients and providers at other institutions so they can benefit, too. “It’s one of the ways we’re contributing to the field of vascular and stroke medicine for kids,” Dr. Taylor said. “This is certainly the next frontier.”

Care for Adults and Children

Dr. Vadivelu and his team at the Cerebrovascular Disease and Stroke Center are also committed to making the transition from young adulthood into adulthood as seamless as possible for those with complex medical conditions. 

“For patients like Savannah whose childhood disease shows up right at that interval, we’re providing the appropriate level of neurologic and neurosurgical care to help them manage their symptoms and disease,” Dr. Taylor said.

Continuing to care for these patients into adulthood is just one component, however, Dr. Taylor explained. Empowering patients to understand their condition and make informed decisions about their care is also critical. 

“In some ways it’s kind of a leap of faith,” Savannah said. “I was 18. I was consenting to my own treatment. It wasn’t my parents telling me you need this. It was me sitting with my doctors and hearing them explain it. It was trusting that even if I didn’t understand what was happening, these were experts who knew what they were talking about and wanted me to be OK.”

(Published June 2023)