He was a healthy 14-year-old boy with a smile that stretched from ear to ear.
As an incoming freshman at Lemoore High School, Douglas Lucken, or DJ, was popular with the girls and had a knack for working on bikes.
He had an unreserved passion for school and anything that allowed him to learn — he also had dreams of becoming a pro BMXer (bicycle moto-cross).
In September 2006, DJ's dream ended when he had his first seizure while outside washing his mom's truck. He was rushed to the hospital and put on eight different medications — mostly all to help control seizures.
Three months later, DJ began having trouble walking, standing and doing everyday activities. He also was experiencing full-body spasms, twitching, jerking and even seemed disconnected and incoherent at times.
Stumped by the boy's symptoms, his doctor referred him to the neurology clinic at the University of California at San Francisco (UCSF).
When DJ arrived at UCSF he was admitted immediately and remained there for 15 days. Although doctors hooked him up to an EEG machine his entire stay, they still couldn't figure out why the young boy was experiencing seizures one after another.
At that point, the doctor caring for him advised that he undergo genetic testing for the extremely rare and "unlikely" disease Lafora — an inherited and progressive type of epilepsy caused by a mutated gene. The gene is created when two rare genes, one from each parent, are combined.
On Aug. 6, 2007, nearly six months after the tests, DJ and his family were devastated by the news that he did in fact have the Lafora-causing gene.
Reported in only 11 children in the U.S. and 200 worldwide, Lafora disease begins in late childhood or adolescence and becomes progressively worse over time, usually taking the life of the person in two to 10 years. The disease is named after the scientist who discovered it, Gonzallo Rodriguez Lafora.
Lafora symptoms include seizures, muscle spasms or jerks, difficulty walking and quickly developing severe dementia. There is no long-term treatment for Lafora, and symptoms such as the seizures can only be managed by medications.
Over time Lafora symptoms worsen, sometimes leaving its victims incontinent, unable to swallow and eventually unable to walk — most patients don't live past the age of 25.
Though life has changed dramatically for DJ and his family, his aunt, Shannon Holt, said the 17-year-old is still the same loving child he was three years ago before his symptoms began.
"He laughs at just about anything," she said. "And even though he's not aware of everything all the time, the things that DJ is aware of he just has a passion for — he's a pretty special kid."
When DJ was diagnosed, Holt said she put her life on hold and relocated to Lemoore from Southern California to be his caretaker — allowing his mom and stepfather to continue working.
"I took a year off of work," Holt said. "During that first year, my sister and brother-in-law continued working while I committed my life to taking care of him."
Holt said though the news of her nephew's illness and the changes in her life were difficult, she has learned many life lessons from the experience.
"DJ has taught all of us so much," she said. "He's taught us what life is all about and just how many things we take for granted each day. DJ has taught us patience and what it is to love someone unconditionally. It's no longer about what we want to do, it's about what we have to do — time together is what's most important now."
While laughter and quality time keep DJ and his family hopeful, his mother, Christina Zigler, said the family also clings to Chelsea's Hope, an organization founded to help Lafora patients.
"There are no words to describe what it's like to watch your child suffer and not be able to do anything about it," she said. "Chelsea's Hope has given us something to hold onto and is a way of communicating and sharing the burden of this disease with other families who are going through the same thing."
The nonprofit organization, formed in 2006, is aimed at raising awareness and funds to find a treatment for Lafora.
The organization was started by Linda Gerber, the mother of a 19-year-old girl suffering from the illness, in an effort to join the world's few "Lafora families" together, where love and support could be reached.
"When my daughter [Chelsea] was diagnosed there was hardly any information for parents, let alone any support groups," she said. "I started Chelsea's Hope because I didn't want to go through it alone — I wanted to find other families that had been affected and raise awareness and hope."
Gerber said she also was looking for a way to publicize the stories of children with the disease.
"These kids are the faces of Lafora — I started Chelsea's Hope so they won't be forgotten."
Chelsea's Hope, and what began as a simple endeavor to connect families dealing with Lafora, has since turned into one of the leading informational Web sites dedicated to this debilitating disease.
Donations from Chelsea's Hope are also the primary source of funding for Lafora research.
"To date we've raised about $200,000," Gerber said. "But we still have a long way to go."
Most recently, Chelsea's Hope has been focusing its attention on the developing research of Dr. Antonio V. Delgado-Escueta.
In a research update from December, Delgado-Escueta explained that with the recent purchase of an EEG machine, he and his team at the David Geffen School of Medicine at the University of California, Los Angeles have been able to study and examine the impact of gene therapy on mice infected with Lafora. He determined that injecting a particular antibiotic intravenously into patients "would not only save the lives of these patients, but also would help correct the altered brain structures," Delgado-Escueta wrote in a report on his research.
He wrote that as of this most recent development, a clinical research team is now in place and ready to help ensure the drug protocol is safe and complete.
As of December, seven children with Lafora were on the waiting list to start the treatment trials. However, because of the cost, patients' treatments must be fully funded before they can undergo the procedure — nearly $30,000 per patient. The trials would involve four treatments in one year.
"Our immediate goal is to raise as much money as we can for this treatment," Gerber said. "If we could get these kids in this brand new testing, it could help stop the progression of this disease."
Gerber said that though the foundation has applied for National Institute of Health funds, the process could take years — time Lafora patients don't have.
"Our children could die long before that money ever comes through," Gerber said. "We need to raise as much money and awareness as possible now."
DJ's mother said that until the day a treatment is found, they and the other sufferers of Lafora hold onto the one thing they have left: their fight.
"No matter what kind of day he [DJ], may have he's not willing to let his body give up — he's a fighter and that gives us strength — every day that he wakes up with a smile is a good day."
To learn more about Lafora or to donate to Chelsea’s Hope:
—Web Site: www.chelseashope.org
—Mailing address: Chelsea’s Hope, P.O. Box 1984, Danville, CA 94526
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(Jan. 16, 2010)