Life Through Moyamoya Disease

The Peronas were understandably jubilant. They had added a bundle of joy to their Martinsville, New Jersey family when they adopted three-month-old Katherine from Korea. Initially, all went well. According to mother Heather, “She met all her milestones, and was a normal, happy child.”

When she started kindergarten, Katherine experienced small delays, but then seemed to catch up. However, when she got upset or frustrated, her mother noticed there was some dragging of her right leg. That turned out to be a warning sign.

Ultimately, in the first grade, Katherine had a stroke. Taken by ambulance to the hospital, she was subsequently diagnosed with moyamoya disease.

What Is Moyamoya Disease?

Moyamoya disease is a very rare, progressive disorder—more commonly seen in children than adults—that causes the arteries of the brain to become blocked.

The word “moyamoya” is Japanese for “puff of smoke.” This refers to the appearance of tiny vessels bunched up, which form to compensate for the blockage.

In a 2014 National Institutes of Health (NIH) published analysis, it was determined that a high incidence of moyamoya was shown in Asian countries, particularly Korea, Japan, Taiwan and China.

While in the intensive care unit at St. Peter’s Hospital, the Peronas met with Dr. Arno Fried and Dr. Mostafa El Khashab, both of Advanced Neurosurgery Associates (ANA). Dr. Fried explained that he wanted to monitor Katherine for further symptoms, seizures or strokes. “He wanted to be very cautious before doing brain surgery,” emphasizes Heather.

Over the next two months, Katherine had multiple hospitalizations for seizures and acute cerebral infarctions (a type of ischemic stroke). When an angiogram was done to check her arteries and blood vessels, the results showed they were significantly clogged, confirming the need for surgery.

Brain Surgery for Moyamoya Disease

Heather and her husband Michael were understandably terrified. Fortunately, the doctors and staff at ANA served as medical and emotional support.

Says Heather, “When we first met with Dr. Fried, he was so kind and supportive.” Dr. Fried, Dr. El Khashab and ANA Nurse Joan Rubin “kept us glued together,” she recalls. “We were beyond devastated. We were terrified Katherine was going to have more strokes, so we wanted the surgery. Being the strong girl she is, she had not displayed the symptoms that would match how badly her arteries were clogged.”

Like many of those faced with such serious surgery, the Peronas had explored the internet, finding another moyamoya specialist in Boston. Dr. Fried knew him, and together, they discussed the approach to Katherine’s care. That gave the Peronas even further confidence in Dr. Fried’s exemplary credentials and background.

Explains Heather: “He just has a very confident demeanor, and whenever we’d mention his name, we’d get such a positive response. He’s very well respected by his peers.”

“We trust him with our daughter. I have full confidence in him. When we were making the decision about surgery, we spoke with the surgical assistant, who worked with Dr. Fried every day. She said, ‘If I had children, I would trust Dr. Fried with them.’ That kind of sealed it for us.”

On September 8, 2010, Katherine underwent a cerebral revascularization (encephalodurosynangiosis) to the left hemisphere of her brain, performed by Dr. Fried. This is a surgery commonly indicated for moyamoya to bring blood to the constricted areas of the brain. It can be compared to a coronary bypass in heart surgery. Thus, a blood vessel from outside the brain is rerouted around the blocked brain artery to provide necessary blood flow.

Rebab and Recovery

During extensive rehab Heather lived in the hospital with Katherine for two months, during which time she was separated from her older son (also adopted from Korea). While there, she received calls from Dr. Fried, checking in on Katherine, which impressed Heather.

Ultimately, symptoms continued, and so a second cerebral revascularization (encephalodurosynangiosis) for the right brain hemisphere was required and performed on January 19, 2011.

The road to recovery has been a long one. Katherine did special education school for academics and has undergone OP, PT and speech therapy since her speech was affected the most.

Life With Moyamoya

Today, however, Katherine has emerged as a typical 7th grader, “very social, and socially right there with peers,” reports Heather. She has participated in school clubs, was part of the theater crew building a set for the school play, and also did intermural cheerleading. The year after, she was set to join 8th-grade chorus.

“We still keep an eye on Katherine and are very cautious,” says Heather, “You have the instinct to build a cocoon. But Dr. Fried told us, ‘Let her live life; let her be a typical 13-year-old.’ We have to let her do that for her own self-esteem.”

Katherine still returns to ANA every other year for a check-up MRI. At the beginning of the entire journey, Heather said it was “very surreal. We were in a fog. How is this happening to us?”

Yet, there was a highly-qualified surgeon and neurosurgery practice guiding her. Prior to the first surgery, Katherine’s father Michael asked Dr. Fried, “What’s your secret to staying so calm?”

Isn’t that the key, though – to find the steady presence that helps you get through such an ordeal?

That’s what Katherine Perona and her family had with Dr. Arno Fried and the other doctors and staff at Advanced Neurosurgery Associates.