Never Too Far Away

It’s been a long time since I’ve had a chance to write a blog post. Between work, family, and finding time for adequate sleep, blogging has (temporarily) gone to the wayside.  However, it’s never too long before I’m reminded of the omnipotence of epilepsy both in my life and the world around us.

Last week I accepted two new patients into my general pediatrics practice with intractable epilepsy.  The mother of one young girl with Lennox Gastaut Syndrome brought pictures taken of her daughter during infancy.  The bright-eyed toddler with an open mouthed grin in the picture acutely defied the image of the now 8-year-old non-verbal and minimally interactive young lady reclined in a wheelchair.  The same day, I met a three-year-old boy with a genetic syndrome and subsequent seizures.  I smiled as he toddled around the exam room and touched everything within reach to explore his environment.  Still, as I typed in his medication list and reviewed his history of past hospitalizations, I worried about how his recurrent prolonged seizures would affect his development.  Time can only tell how each child will endure their significant challenges.

Earlier this month, I had an article published in Epilepsia, the journal of the International League Against Epilepsy, discussing what it’s like to navigate life as both a professional and patient with epilepsy.  You can see that article here:

http://onlinelibrary.wiley.com/doi/10.1111/epi.12501/full

And later this month, I am looking forward to participating in an event sponsored by Madison Friends of CURE and Joey’s Song (see the past post about Joey here)  If you’re in the Madison area and would like to participate in a great event to raise awareness about epilepsy, please click on the link below:

http://www.joeyssong.org/madisoncure/

In the meantime, to those of you who don’t live with epilepsy or have a loved one with seizures, thank you for opening your heart and mind to understanding this incredibly common but still stigmatized disease.  And to those who intimately understand what it means to live with seizures, God bless and let’s continue to raise awareness and find a cure.

DSC_0576(This is my daughter’s way to learn about the human body!)

Joey’s Song

In October 2005, Mike and Nory Gomoll celebrated with joy when they adopted a beautiful baby boy named Joey from Guatemala.  Joey had large, chocolate eyes, a thick mat of dark hair piled high on his head, and an infectious smile.  Joey arrived to join his family when he was six months old, about the same age that his older brother and sister were when they were adopted from Guatemala as well.

Joey quickly adapted to life in the U.S. and loved playing with his older siblings.  He loved music, Elmo, and had an early appreciation for songs and  rhythm.  Things changed, however, when Joey was ten months old.

Joey was visiting his grandparents when he had his first seizure.  At first, his grandfather didn’t recognize the unusual, rhythmic movements of his arm and upper body when Joey sat on his lap. When his Aunt walked by and observed the scene, however, she knew that something was amiss.  Since Joey’s grandfather lived across the street from Illinois Masonic Hospital, his family members ran the short distance to the hospital for an evaluation.  Because of the unusual nature of his first seizure, Joey was admitted to the hospital and he received an extensive evaluation.  All of his initial testing was negative and Joey eventually discharged with the diagnosis of a simple febrile seizure.

But it wasn’t so simple.  Several weeks later, Joey had another seizure.  Because he had a fever at the time of the next seizure, Joe’s again was diagnosed with a febrile seizure.  With increasing frequency and unrelenting insidiousness, the seizures continued.  Sometimes Joey would just stare into space and have involuntary movements of his wrist, sometimes the seizures were much more ominous.  Early on, the seizures were almost always associated with fever.  Joey was started on phenobarbital for treatment of recurrent febrile seizures but his parents were told that he would eventually “grow out of it.”

Soon enough, Joey was having seizures with increasing frequency.  The recurrent attacks on his growing brain began to show adverse effects on his development.   Joey never learned to speak more than a few words, although he loved to interact with others.  He learned to communicate with loved ones and family members  in other ways.

As Joey continued to have seizures, he tried multiple different medications with little or no improvement.  His parents noticed that excitement  triggered seizures so they tried to keep Joey as calm with as little stimulation as possible.  The Gomoll family fell into a natural rhythm.  Mike watched after older and more active Sam and Julia and Nory stayed with Joey to protect him as much as she could from the constant threat of seizures.

Desperate for answers, Mike and Nory took Joey to see a pediatric neurologist at the Pediatric Epilepsy Center at the Children’s Hospital of Wisconsin in Milwaukee.  Joey and his family met with the physician there who, after hearing his story, diagnosed Joey with “classic Dravet syndrome.”  This was the first time that Joey and his family had heard of the severe form of intractable epilepsy associated with recurrent febrile seizures, developmental regression, behavioral changes, and prolonged seizures.

Mike states that once Joey received the diagnosis of Dravet syndrome, they “finally understood what was going on.”  While the Gomoll family continued to fight Joey’s seizures, they also found ways to revel in the small things.

“When you have a child with Dravet syndrome, life is pretty simple,” Mike remembers. ” Joey knew how to take out DVDs and put in DVDs.   He would do that over and over again as he watched Elmo movies.  The stuff that other parents would take for granted, you don’t.  You revel in every bit of connectedness that exists.  You celebrate every moment of joy, every moment that you’re not in the back of the ambulance.”

“A lot of my memories of Joey are of laying with him for hours after his seizures.  He would lay on my chest with his hand behind his head and lay quietly.  I knew he didn’t feel well, but we were there together, and that meant a lot to me.”

In March 2010, Joey died from complications from epilepsy.

Joey didn’t speak much, but he had several words for dance.  He understood rhythm since early childhood and music always seemed to calm him.  In Joey’s memory, Mike and the Gomoll family have started Joey’s Song , a nonprofit foundation supporting special needs children and all those suffering from seizures.  Joey’s Song has produced four CDs with contributions from famous artists such as Roseanne Cash, the Cowboy Junkies and the Crash Test Dummies.  Joey’s Song has an upcoming benefit concert in Madison, Wisconsin on September 19, 2013.  Please visit http://www.joeyssong.org to learn more about Joey and Mike Gomoll and the work Mike is doing to fight epilepsy.

And, to continue to raise awareness for all of us, please pass it on.

Joey gomoll 7