The unspeakable heartbreak of losing a child to an insidious disease can leave parents grasping for answers, feeling hopeless and angry at a medical system they feel failed their child.
That was the case for C. Renzi and Lee Anne Stone who, on May 17, 2010, lost their infant son, Isaiah, to complications from pediatric epilepsy, a disease that is shrouded in mystery and misunderstanding. November is Epilepsy Awareness Month.
“If your child has a seizure today, and tomorrow you don't have a doctor's appointment, as a parent, you're upset,” Renzi Stone said. In the Stones' case, they couldn't get an appointment with a pediatric neurologist for six weeks after their son's first seizure.
That was because, then, there was only one pediatric neurologist at the The Children's Hospital at OU Medical Center. Now, there are six.
In Oklahoma, it's estimated 7,000 children have epilepsy, experts say. This statistic is arrived at by assuming Oklahoma has the same percentage of pediatric epilepsy patients as the national average. The Centers for Disease Control and Prevention website states that about 2.2 million Americans have one of the 40 forms of the disease.
State of Research in the Epilepsies Report 2013, released by CURE Epilepsy recently, states that one in 26 people will develop epilepsy in their lifetime.
Not all cases of epilepsy result in death, but doctors, families and other experts in the field want to bring epilepsy into focus by raising awareness that this disease is far too common to ignore and often brings devastating results including death, severe disability and developmental disabilities for those afflicted.
Crusading for children
During their son's treatment and after his death, the Stones have become crusaders for more specialists, more publicity and research funding for pediatric epilepsy. It's the squeaky-wheel approach they took that the Stones say helped initiate awareness that Oklahoma was woefully underequipped to treat children with epilepsy.
“OU has really stepped up,” Renzi Stone said. “They've become great partners.”
Now, the hospital has six pediatric neurologists on staff, two of which specialize in pediatric epilepsy. Integris has three pediatric neurologists, and there are three in Tulsa, said Dr. Yu-Tze Ng, the top child epilepsy neurologist at OU Children's Hospital.
As part of their quest for more understanding and funding for research, on Nov. 19 and 20, the Stones will hold the second annual Isaiah Stone Pediatric Epilepsy Lecture Series at The Children's Hospital. The lecture series is combined with a fundraiser. Last year's event raised $50,000, which helped hire and train dietitians at the hospital. This year's fundraising goal is $100,000.
The event includes guest lecturers, a luncheon with a question-and-answer panel discussion and an evening Wine and Palette Painting fundraiser. The lecture includes special guests Dr. James Wheless, medical director at the University of Tennessee Health Science Center's Neuroscience Institute and at LeBonheur Comprehensive Epilepsy Program in Memphis. Wheless will deliver a lecture titled “Non-(Antiepileptic) Drug Treatment Options.”
Susan Axelrod, founder of CURE Epilepsy (Citizens United for Research in Epilepsy, CureEpilepsy.org), will also be a featured speaker at the event. She, Ng, Wheless and Dr. Cherie Herren will sit on the panel discussion.
A lack of focus
“Epilepsy has been just woefully under-focused on and under-funded forever,” Axelrod said. Axelrod and her husband, David Axelrod, who is director of the Institute of Politics at the University of Chicago, campaign adviser to President Obama and NBC political analyst, became intimately familiar with the disease when their daughter, Lauren, now 32, began having severe seizures at 7 months.
Because of the thousands of seizures Lauren has endured, along with a barrage of drugs doctors have prescribed her, she has developmental and cognitive delays, and her parents still act as her legal guardians.
“When you're talking about a young brain that's trying to lay down new memories and new pathways and is getting bombarded with these electrical storms, sometimes dozens of times a day, it is understandable that it can have a lifelong and irreversible impact,” Susan Axelrod said.
Axelrod founded CURE in 1998 in honor of her daughter. She believes that more than the CDC's estimated 2.2 million Americans have epilepsy. She thinks the number is closer to 3 million because, she said, in many patients, epilepsy is not counted because it exists with another disease such as autism which may be considered the primary disease. She maintains a blog about her experiences working with patients, families, researchers and others who are joining the movement to cure epilepsy. Find the blog at presidentscorner.cureepilepsy.org.
Through CURE, Axelrod has begun a lecture series that will bring well-known experts in pediatric epilepsy to medical schools across the country to help encourage medical students to specialize in the field, which is in dire need of more physicians.
In terms of new and advanced treatment options and genetic discoveries, Axelrod is optimistic that it's a good time in epilepsy research and treatment. She's excited about President Obama's BRAIN Initiative unveiled in April, which has challenged the science community to fund $100 million in research on diseases of the brain, according to its website www.whitehouse.gov/share/brain-initiative.
And as cases of epilepsy become more understood in veterans with traumatic brain injuries, athletes with repeated concussions and advances in medical technology, doctors are better able to pinpoint the origin of the disease and fine-tune their treatments.
Ng said that in some patients, especially pediatric patients who recently have been diagnosed with epilepsy, brain surgery to remove the “focus” or specific spot in the brain from which seizures originate can be a cure of sorts.
A surgeon literally cuts out the affected portion of the brain, taking care not to impair important functions such as speech and movement.
“It's not for everyone, but for some people whose epilepsy starts from a focus, like one area of the brain, potentially, we can cut that out and cure all the epilepsy,” Ng said. “It's the best chance, or the only chance of curing epilepsy at this stage.”
Another proven treatment, Ng said, is the Ketogenic diet. The diet is similar to the Atkins diet, only about 10 times more restrictive.
“It seems to work for all patient types a lot of the time,” Ng said. “Nobody knows for sure how it works, whether it's the absence of carbs, or it's the (abundance of) ketone bodies — the breakdown products of fat.”
For some patients, a good treatment option is a nerve stimulator, similar to a pacemaker, which delivers an electric impulse to the brain via the vagus nerve in the neck.
This treatment has good results on seizures and also is approved for treating depression, which can be lifesaving for some patients who may be suicidal.
And pharmaceutical improvements are important, too, Ng said; however, most of the drugs available are aimed at controlling seizures but not the disease.
“There a lot of new medications. They tend to be better tolerated with a better side effect profile,” Ng said.
Additionally, The Children's Hospital has opened an epilepsy monitoring unit where patients are studied over the course of days to help localize the origin of their seizures.
Ng said yhr hospital is on target to offer any and all treatment options to children with epilepsy.
“Overall, we're trying to bring the optimal care in the world. We're close to, but not there, offering any treatment in the world for children with epilepsy,” he said.