Ordinary Parents Making Extraordinary Strides

By Dawn Cerven
Special to EpilepsyUSA
Update Posted: April 21, 2004

Ten-year-old Chris Cerven was diagnosed with hypothalamic hamartoma, a rare benign brain tumor, in 1997. His family's extensive Internet research brought them in contact with the HHUGS (Hypothalamic Hamartoma, Uncontrollable Gelastic Epilepsy) group. HHUGS was instrumental in bringing a pioneering surgery to the United States. Chris was one of the first patients.

Our son Christopher was diagnosed with gelastic seizures and a hypothalamic hamartoma in August, 1997. We were told this benign brain tumor was very rare and there was not a lot of research or documentation on it. Our family was devastated.

My pregnancy and delivery were normal. Christopher was the healthiest, happiest baby we had ever seen. Our oldest child, our daughter, Samara, was also a good baby, but she didn't smile as much as Chris.

As time went on we began to notice that his smiles were often accompanied by a giggle, then sudden sleepiness. He was in the 90 percent range for all growth charts, so when we mentioned his giggling to his pediatrician, it was seen as nothing more than an early development.

By age 3, it became more obvious that something was going on. He would suddenly giggle, stare off and remain frozen in his steps for what appeared like minutes but was only seconds - enough time for us to realize that he was not responding to our words and could not be moved.

We suspected Chris may be having some kind of seizure and began our quest for answers.

Getting the News

We began meeting various doctors, specialists and social workers who questioned our parenting abilities and family relationship. They had never heard of a child giggling while having a seizure.

After months of electroencephalograms and video monitoring, Chris, then 4 years old, had his first and only generalized tonic clonic (grand mal) seizure on the morning after we had returned from a family vacation in Bermuda. He was hospitalized and given several more tests, including an MRI. That was when we got his diagnosis.

Along with the diagnosis came the horrible news that children with hypothalamic hamartoma could suffer from early puberty, extreme rages and poor social adjustment. Chris was not showing signs of early puberty, however the other two were obvious.

He was able to start kindergarten on time, but over the next few years, his seizure types changed and increased in frequency. He seized day and night with only short honeymoon periods of calm. We tried several medications with disastrous results.

We eventually discovered that Chris was allergic to Tegretol, which may have contributed to the surge in his seizure activity. But until we made the connection, we increased his dosage as his seizures increased. As soon as we realized his allergy, his doctor took him off the Tegretol.

It was clear to us that gelastic seizures could not be controlled and that with each day Chris was developing more of a learning disability. Our bright little boy was now having trouble in all aspects of life.

Things Start to Change

Hypothalamic hamartoma causes cognitive deterioration at an unbelievable rate. When Chris was 3 years old, he used to watch “Thomas the Tank Engine” videos and an hour later could recite the lines verbatim. But, after that first tonic clonic seizure, it was all downhill.

By third grade, he was no longer given standardized tests in school because he wasn't able to do his work in class.

Even activities he enjoyed like playing ball, riding his bike and ice skating, became a challenge for Chris. Everything was a chore.

The seizures changed his personality. He was a different boy after a seizure. The seizures took him away, out of himself.

The medication had its own effects, none of them being seizure control. The drugs made him moody, and his memory was terrible. We tried adding to his medication, but his seizures just changed in type and increased.

The seizures took their toll on Chris' mind and body. He once broke his arm from taking a dive down the top of the stairs after a drop seizure.

My husband James and I always tried not to make a huge deal out of every seizure. Chris would get up, say he was okay and try to keep going with whatever he was doing. We couldn't linger on the event. When you're dealing with so many each day, up to 25 of varying types, you can't spend a lot of time dwelling on each one. You just can't.

The First Glimmer of Hope

In 2000, we came across an article about a doctor in Australia, Jeffrey Rosenfeld, who was researching and performing surgery on children with hypothalamic hamartoma. We emailed his office but were told then that Chris' seizures were not debilitating enough to warrant the risky surgery to remove his tumor.

Though disappointed, we continued in our daily struggles with limited answers. We joined our local epilepsy support group through the Epilepsy Foundation of Long Island, explored the Internet and found the strength to carry on in our search for ways to help Chris. The Internet soon became a tremendous resource for us.

In late 2002, we watched a segment on Dateline NBC about a family whose child had a hypothalamic hamartoma. The same Australian doctor I'd read about in the article had performed surgery on a little boy from the United States, removing his tumor using a technique that doctors in this country opposed and wouldn't perform. Seventy percent of the children Rosenfeld operated on were free of seizures after surgery, even though there weren't a lot of them undergoing the procedure. The boy on Dateline NBC was only number 26 in the world, and he had to go all the way to Melbourne.

At least we finally knew we weren't alone. For five years we had felt like outcasts because we had a child with a little-known illness. We made contact with the family that was featured on Dateline NBC and found that a whole new world had opened up.

Through the Dateline NBC story, we found ourselves involved with a wonderful group of parents worldwide whose children all have hypothalamic hamartoma. We found people whose lives mirrored our own. The HHUGS (Hypothalamic Hamartoma, Uncontrollable Gelastic Epilepsy) group consists of parents, grandparents, brothers, sisters and others who are desperate to learn more about the disorder.

Taking a Bold Step

The HHUGS group found out through Dateline NBC staff that Rosenfeld was interested in teaching his surgical technique to other medical teams around the world, the United States included. After working with the Dateline NBC team and striking out with other hospitals in the communities where many of us lived, Barrow Neurological Institute in Phoenix invited Rosenfeld to the United States to teach his technique for removing these tumors.

I still get goose bumps thinking about the magnitude of what we were doing. We were just ordinary families, not of any great means or fame, but we were committed to doing anything we could for the benefit of our children.

Barrow Institute assembled a team to evaluate surgical candidates. Applications came pouring in from families all over the country. Finally, the team chose six children to consider first and placed six on standby. All 12 families flew to Phoenix for consultations, and thankfully we were among them in the standby group.

When Rosenfeld evaluated Chris he spoke very chilling words, telling us that Chris would be institutionalized within a few years without this procedure to remove his tumor. He said he had to operate on Chris.

His selection was bittersweet. There was only a spot for him because one of the initial six chosen, a little girl, wasn't considered a good candidate after her consultation. So, Chris became number six on the list of those scheduled for surgery.

A Family's Life Changed

Chris, in addition to surgical dressings and monitoring equipment, sports a radiant smile.

During the third week of February, 2003, that group of six children became the first children with hypothalamic hamartoma to be operated on in the United States.

This amazing experience has changed our lives. Chris' life is turning around and he is now learning to live without the constant interference of seizures. A recent EEG did show some small spikes, but he hasn't had any seizures that we can see. None.

Our family is so excited to see Chris catching up on so many years lost to the disruption of seizures and medicine. Now he is a busy, rugged boy who has mastered skating and all the other things that used to be so hard for him. He is still on Depakote, but he can think so much more clearly now. He talks constantly, always makes us laugh and is more loving than ever.

Thanks to the perseverance of families, support groups, and the desire for the continuous education in the field of neurology, our son and so many other children now have a fighting chance.

New Program Established, More Research Critical

Hopefully, we've made it a little easier for kids with hypothalamic hamartoma who will come behind Christopher. Barrow Neurological Institute now has a Hypothalamic Hamartoma Program as a result of Rosenfeld's training there, and we are awed and humbled to have been a part of seeing this realized. To date, 14 children have undergone surgery at Barrow to remove their tumors.

Though tremendous strides have been made in the diagnosis and treatment of hypothalamic hamartomas, this is only the beginning. The families that traveled to Australia were the original pioneers. We are the second wave here in the United States, searching to save our children. We realize that had it not been for the research done in Australia, our son and the other children who share his condition might have had to suffer a bit longer.

Since the initial airing of the Dateline NBC story, the number of families that have joined the HHUGS group seeking help has increased significantly. Perhaps hypothalamic hamartomas are not that rare, but are frequently misdiagnosed.

Regardless of rarity or misdiagnosis, we know now that hypothalamic hamartoma is a horrible, debilitating illness that can destroy our children right before our eyes. The search for answers must continue and education is critical. As parents we will not stop fighting until hypothalamic hamartoma and all types of seizures are brought to the forefront. Our children's lives depend on increased research, and we cannot fight alone.

Editor's Note (April 21, 2004): After seeing the recent update to C.J.'s story on Dateline NBC, Christopher Cerven's mother, Dawn, reports that Christopher is continuing to do well following his surgery to remove a hypothalamic hamartoma. "He is doing beautifully and is into typical pre-teen things now," she said. "Through these Dateline stories, people are seeing how much children with this condition are suffering, and I'm so grateful that surgeons in a U.S. hospital were willing to learn the Australian technique so kids with HH can have treatment options."