Girl given hope after rare brain disorder

Even though Norton Children’s Hospital is more than 200 miles from the Cain and Fisher families in Western Kentucky, they are no strangers to the hospital. Jason Cain was flown there by emergency transport after being born prematurely. Thirty-one years later, his daughter, Jade, took the same flight after doctors in Paducah found blood on her brain.

That was in March 2012. Since then Jade has made nearly 30 trips to Louisville as doctors worked to eradicate an arteriovenous malformation (AVM) in her brain. An AVM is an abnormal cluster of veins and arteries. Brain AVMs are relatively rare and form before birth. AVMs are usually not diagnosed until they cause symptoms. Left untreated they can rupture and cause brain damage or death.

Jade began having symptoms when she was 11 years old, manifesting as severe headaches that caused her to vomit, be sensitive to light and have a stiff neck. Doctors at her local hospital did some testing and discovered blood around her brain. They quickly made a call to Norton Children’s Hospital, and Jade was picked up by the hospital’s “Just for Kids” Transport Team airplane.

She was admitted to the intensive care unit and underwent many more tests. Once the diagnosis was made, Jade was introduced to neurosurgeons Tom Yao, M.D., and Shervin R. Dashti, M.D., Ph.D., who became much more than doctors to the young patient. Jade’s mom, Desirée Fisher, said Dr. Yao made a special connection with Jade and became a friend to her.

“When he explained things to us, he wouldn’t just talk to Jade’s dad and me, he would talk to Jade,” Desirée said. “He would explain what was going on in terms she could understand, and he would build up her confidence and tell her she’d get through this. He was reassuring and wonderful.”

Because Jade had such a complex brain AVM, she required a complex treatment plan.

“Jade underwent an embolization procedure in which a liquid adhesive material was injected into the AVM via microcatheter. The bio-glue hardens and blocks blood flow into the AVM,” Dr. Yao said. “Unfortunately, the AVM had so many small vessels that it could not be completely obliterated by the gluing procedure.”

Dr. Yao consulted with colleagues and agreed the next step in definitively treating the AVM was stereotactic radiosurgery. Jade was referred to Aaron Spalding, M.D., Ph.D., radiation oncologist with Norton Cancer Institute. Stereotactic radiosurgery is a type of very exact radiation therapy that can be used to destroy an AVM. Jade initially did well, but her debilitating headaches returned and tests showed that while the radiation worked to destroy the AVM, it also caused swelling and fluid in her brain.

“Stereotactic radiosurgery changes the AVM so that it slowly scars up and shrinks over time,” Dr. Yao said. “Unfortunately, it can cause swelling and changes to the surrounding brain tissue.”

The standard treatment for this type of adverse effect is steroids and vitamins. Jade underwent three rounds of this treatment before suffering a severe reaction.

“While high doses of steroids seemed to control her headaches temporarily, her symptoms persisted every time we tried to taper it off,” Dr. Yao said. “In addition, she suffered from severe side effects, gaining over 45 pounds of weight, having mood swings and requiring hospitalization for fluid retention. She just couldn’t tolerate it. Imagine the psychological impact on a young teenager.”

That left her doctors with just one more option: A drug approved for use only in adults with cancer, not for AVMs or for children.

“While this drug, called Avastin, has been used for adverse radiation effects (swelling), it has not been tested in patients with AVMs and use in the pediatric population is very limited,” Dr. Yao said. “In addition, the method for getting Avastin to the AVM was a very new approach.”

After a lengthy conversation with the family, Jade was given Avastin via a catheter that delivered the drug directly to the affected part of the brain.

“We knew one thing: If Jade didn’t get this drug, her hope of getting well was pretty slim,” said Deborah Allen, Jade’s grandmother.

“Jade had a very dramatic positive result from this therapy,” Dr. Yao said. “We couldn’t have hoped for a better result. She is now playing volleyball again, lost a significant amount of weight and, more importantly, returned to her pre AVM treatment personality again.”

Jade is the second child Dr. Yao and Dr. Dashti have treated with Avastin, both with positive results. To their knowledge, to date, these two patients are the only children to ever receive this type of treatment. Using these results, the physicians hope to pursue a clinical trial in order to better study this drug and how it may be used to treat even more patients.

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