Chris's story

Christopher was a normal infant -- except for the giggle.

"It was a strange giggle, like a laugh that comes from the depths of his bowels," says his mother, Dawn. "We just thought it was great formula." Christopher grew and the odd giggle came more frequently, but he seemed well enough, walking and talking on time. But then when Christopher turned two, the giggling spells took a more ominous turn. The toddler would suddenly freeze and stare, glassy eyed, into space. His parents would try desperately to rouse him, and minutes later, he would return to normal, seemingly no worse for the wear. Dawn mentioned her son's strange behavior to his pediatrician.

"They told us there's no such thing as a laughing seizure. They looked at us straight in the face and said, 'Maybe it's because you have a lot of stress in your family. Your husband is a policeman and you're a drug counselor.' " It was just after Christopher's fourth birthday that the child experienced his first grand mal seizure. The family had returned home to New York City after a week in Bermuda. The seizure lasted for more than an hour, and when it finally stopped, one side of Christopher's body was paralyzed for more than eight hours. Doctors theorized the seizure was caused by the vacation in Bermuda, a virus, a trip they'd made to a cave. One doctor, though, had heard of gelastic (laughing) seizures and ordered an MRI. The MRI revealed a benign tumor buried at the bottom of Christopher's brain: a hypothalamic hamartoma.

A hypothalamic hamartoma (HH) is a rare brain tumor of the hypothalamus, the area of the brain that maintains the body's status quo. Beginning in infancy, children with HH have frequent laughing or gelastic seizures so similar to natural laughter that parents and physicians often do not recognize them as seizures. Later, between four and 10 years of age, the seizures become longer and more severe, and the child may begin showing signs of aggression, early puberty, progressive cognitive impairment, autism, weight change and poor social adjustment. Unfortunately, treatments for HH have been largely ineffective. Anti-seizure medications do not control the frequency or duration of the seizures for most children, and the hard-to-reach location of the tumors makes it difficult to remove the tumors surgically. As a result, most children with HH suffer multiple seizures every day, which can lead to mental deterioration. The family tried their best to fight the tumor. Medication after medication, doctor after doctor, nothing worked for long.

"We went to the top of the top (hospitals) in New York City," says Dawn. "They all said they'd seen maybe one or two. 'We don't know how to treat it.'" Then they heard about Jeffrey Rosenfeld, MD, an Australian neurosurgeon that developed an effective approach to removing hypothalamic hamartomas. Dr. Rosenfeld's technique, however, was not yet available in the United States. They contacted Dr. Rosenfeld about Christopher, but the surgeon said the boy's condition was not bad enough to risk the surgery. That would soon change. In the next year, Christopher's condition grew much worse. Dawn and Jim watched helplessly as the tumor caused horrible rages, frightening seizures and the steady deterioration of their son's memory and thinking ability. "He'd wake up and see the whole place battered and torn apart and find us holding him," says Dawn. "Once it was over, he'd tell me, 'Sorry, Mom. I gotta get rid of these monsters in my brain.'"

Then, in the summer of 2002, Dawn and Jim watched a Dateline story about C. J. Soeby, an Avondale, Arizona, boy whose parents took him to Australia for Dr. Rosenfeld's procedure. "We saw C. J. was doing great," says Dawn. "We went to our pediatrician and neurologist and said, 'That's it. There is nothing you can do for Christopher. You've got to help us get him to Australia.'" As they were preparing to take Christopher to Australia and pay for his surgery out-of-pocket, they heard Dr. Rosenfeld was coming to Barrow to train neurosurgeons in his technique. Five children would be chosen for surgery and seven for evaluation. They quickly put together information about Christopher and sent it to Dr. Rosenfeld. Soon they received word that Christopher had been chosen for an evaluation at Barrow.

Christopher and his parents arrived in Phoenix in February and met with Dr. Rosenfeld. Just two days later, Christopher suffered severe back-to-back seizures. Dr. Rosenfeld told Dawn and Jim that Christopher must undergo surgery right away. "I can help this child," he said. "I'm going to take this out."

The nine-year-old boy underwent a four-hour surgery. Using Dr. Rosenfeld's approach, surgeons entered the brain from the top of the skull, separating the brain's hemispheres for a clear approach to the tumor. Afterward, Dr. Rosenfeld told the anxious parents that the whole tumor had been removed. "He's not going to have another seizure," he said. "I'm grateful to Dr. Spetzler and Dr. Rekate for learning this procedure," says Dawn. "How many kids can you help now instead of leaving them to deteriorate and be institutionalized?"

Editor's note: In April, Dawn reported that Christopher is "a whole new kid." He's been seizure-free since the surgery in February, and he's calmer, more focused and clearer headed, she said.

UPDATE
YES!!!! It's been 1 year and oh my goodness, what a year. I've been asked to address Congress on March 22nd and 23rd about Public Health Policy and that has taken up the vacation for now. MUST KEEP THE FIGHT GOING! Well as for Chris??????? OH BOY!!!! NOW he really is a boy, filled with attitude and lots of defiance.

Update: Endocrine
Total weight gain 41 lbs - as of 1/28/04 (115 lbs)
Last lab work 1/28/04 - Normal

Seizures:
None that we can see. He has said a few times that "something is in my brain" but when asked if it felt like a seizure said "no". Teacher says he stares in class but, when I ask he says "I was thinking of a movie"---- I believe that he is daydreaming because he doesn't understand the work.

Had EEG on 2/20/04, no results yet, but was checking for spikes so that we can lower dosage of Depakote - 1am - 2pm(sprinkle)

Cognitive:
School continues to be a challenge, but more so with him refusing to do work. He now has to catch up and seems to feel overwhelmed. The teacher in Special Education has no skills in dealing with brain trauma. Chris had a neuropsychological exam in Jan 2004. The doctor states that he should be treated as if he is Dyslexic. This is a brain trauma that is irreversible and the children must be taught by using different methods. Example: using tape recorders. We are now trying to find a new school setting. Chris wants to learn but gives up easily even on things he knows (seems like he is use to giving up since he learned to do this over the years of seizing).

STM:
Not as bad but still an issue and must repeat things over and over at times. Long term memory seems intact.

Emotional:
Roller coaster ------frustrated easily, anger flares up at times (not as bad or as often), cries easily
I say Depakote has plays a part in this, it has always destabilized him.

Naps:
Daily for 2 to 3 hours especially after school. If not becomes angry and nasty. This doesn't leave a lot of time in the evening to do work. Has slept from 3:30 pm to 6:00 am once or twice as if brain need to rest.