Tony: An Internist with Epilepsy

 

In September 1984, Tony was a pre-medical student anxiously awaiting the day he would begin medical school at Georgetown University.  While driving along a congested I-95 along the East Coast, the car immediately ahead swerved and crashed into the median while four lanes of traffic eked onward.  Tony, already equipped with the “helper” mindset that he would hone in medical school, stopped his car and ran to help.  The woman in the driver’s seat of the damaged car was suffering from a generalized tonic-clonic, or grand mal, seizure.

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Tony did his best to ensure the driver’s safety while he waited for emergency personnel to arrive.  Although he didn’t know it at the time, Tony’s first patient was suffering from the same illness that would plague him many years later.

Tony’s life preceding and immediately after his first brush with epilepsy on Interstate 95 was relatively worry-free and picture-perfect.  He grew up in the suburbs of Washington D.C. and was an avid tennis player, skier, and straight-A student.  He attended an esteemed private high school and was quickly admitted to an Ivy League college to continue his education.  While in medical school at Georgetown, he met his wife. Together they moved to Michigan to complete their residency training.

Immediately after completing residency, Tony and his wife found jobs in their respective fields and settled into life in the upper Midwest.  Over the ensuing years, they welcomed three beautiful girls to their family.  Tony and his family remained active and carefree until early in the morning on a winter day in November 2006. Although he does not remember all of the details, Tony recalls waking in the middle of the night with his wife hovering over him and asking him repeatedly if he was OK.  There were also two policemen and paramedics in the room, along with a neighbor sitting next to his bed and watching with concern.

Although Tony’s confusion was profound after his first generalized seizure, by the time he was transferred into the ambulance he had reassumed the physician role and gave advice to the emergency personnel.  The ensuing hospitalization and diagnostic testing led to Tony’s diagnosis of “idiopathic epilepsy” and he began to take the antiepileptic drug Dilantin.

Tony dutifully took his medication for the following year and his seizures disappeared as quickly as they came.  When the medication was weaned one year later, Tony hoped that his experience with epilepsy was a thing of the past.  However, slowly but certainly, smaller, partial seizures marched back into Tony’s life.  He had one in front of a patient, another one month later, and soon he was waking monthly in the middle of the night in the midst of a seizure.

As epilepsy reestablished itself in Tony’s life, further testing revealed a small area of atrophy, or injury, to his left anterior temporal lobe.  Tony and his doctors estimated that the injury most likely occurred years previously when his brain bounced like a ping-pong ball inside his skull after a skiing accident or trauma playing soccer.  Once the atrophic area was identified as a source for Tony’s seizures, he began the arduous process of trying to find a way to stop them.

Tony is currently undergoing evaluation to see if he is a candidate for epilepsy surgery.  He is taking two antiepileptic medications but can list the series of medications that he has tried and failed as if he were reciting a grocery list.

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“Carbamazepine didn’t work and caused horrible constipation,” he said.  “I tried oxcarbamazepine for a few days, and felt like I was stoned without the fun.  Zonisamide didn’t work and caused numbness and tingling in my hands and my feet.”

Tony states that he is currently tolerating phenytoin and levetiracetam relatively well although is emotions are more raw than ever before.  “I don’t know if that’s a medication side effect or epilepsy itself,” he mused.  “Recently my daughters saw me cry for the first time in twenty years.” Tony notes that since his seizures have escalated, his grown daughters have visited more, been in contact more, and are acting increasingly protective of their father. Tony’s wife watches him diligently and protectively.  Moments of silence and contemplation or repetitive movements like scratching his nose now warrant questions from his loved ones about a possible seizure.

Through his experiences with seizures, hospitalizations, testing and medications, Tony finds what’s most frustrating about his epilepsy is how it has changed his perspective of himself.

“My disease conflicts with my inherent personality.  Epilepsy has an incredible ability to change how I feel about myself.”

Throughout his career, Tony has enjoyed tremendous success as a physician.  He has been promoted as a physician leader in his health care system.  He repeatedly achieves the highest quality metrics in the care of his patients.  Despite this, his epilepsy undermines his success and makes him fearful for the future.

“The pride in my profession is the brain and our mental ability. Epilepsy is all about how we can hurt our brains. Being a physician with seizures is kind of like telling a football player you can’t bench press anymore.  How do you teach that person who always been the caregiver and first in line to help suddenly say ‘I need help, I need a hug?’ It’s so hard to say that.”

Despite his setbacks and frustrations, Tony has learned to ask for help and accept his limitations.  He’s recently made the decision to decrease his clinic hours in order to reduce his stress levels.  A former marathoner and triathlete, Tony has also backed off on his training and endurance exercise in the past year.  While he’s made these changes reluctantly, Tony is willing to do whatever it takes.  Like so many of us living with epilepsy, he hopes to once again live without the constant worry of when the next seizure will occur.

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Raising Awareness However I Can

Yesterday I was honored to be a guest on the Joy Cardin Show (listen to the broadcast here) on Wisconsin Public Radio to discuss living with epilepsy and my memoir, The Sacred Disease.  I was surprised by how many people called in to share their experiences with seizures, their hopes for the future, and the subtle ways that epilepsy changed their lives.  I walked away from the broadcast both excited to have participated in another forum to raise awareness and saddened that there are so many people who are touched by seizures in many different ways.

The following is a poem I wrote in effort to describe what it’s like for me to live with epilepsy.  I’m sure those of you who are touched by seizures can relate.  I cope with my uncertainty by writing and speaking out as much as I can.  What helps you?  Please share in the comments below.

Living with epilepsy means that I know the distinctive scent of EEG glue as well as I know the scent of my children.

Living with epilepsy means that I’ve learned how to fall asleep in MRI machines, wait patiently in doctors’ offices, and perform neurological tests without prompting.

Living with epilepsy means that I must not be the “Epileptic Patient” but rather “the patient with epilepsy.” I cannot let the seizures own me.

Living with epilepsy means that even some of my most significant days have been accompanied by seizures: the day I delivered my son, my tenth anniversary, Christmas Day, Thanksgiving.

Living with epilepsy means that when the familiar sensations of a partial seizure appear, I find myself searching for a place to sit away from view in case the simple seizure leads to something more.

Living with epilepsy means hiding my illness under a well-designed shroud, afraid that if others know that I have seizures they will lose their faith and trust in me.

Living with epilepsy means I examine my tongue each morning in the mirror to look for the characteristic bite that’s my sign of a nocturnal seizure.

Living with epilepsy means learning to ignore the staggering fatigue that comes with each new medication trial and medication adjustment.

Living with epilepsy means that I can list almost every anti-seizure medication and its associated side effect profile. I have tried them all.

Living with epilepsy means that I treasure the mundane and hold these things as close as possible, for fear of losing them: driver’s license, health insurance, life insurance.

Living with epilepsy means that I will consent to tests that turn off part of my brain, remain tethered to a wall with an extension cord for up to a week, and consent for removal of my entire temporal lobe in hopes for a cure that still eludes me.

Living with epilepsy means that I have created a handful of euphemisms to describe a seizure: head problem, not right, episode, incident.

Living with epilepsy means I feel compelled to join others like me and look down the long, dark road that I pray may ultimately lead to a cure.

A Mother Turns Her Experience with Epilepsy Into a Learning Opportunity For All

Over the years, I’ve discovered that that the more I write about epilepsy, the more I have the chance to meet patients and families who are working to change many of the common misconceptions about seizures.  From a group in China that is working to raise awareness about epilepsy in Hong Kong, to the father of a young girl with a rare epilepsy syndrome, the collective work that we are doing to de-stigmatize epilepsy seems to be slowly making its mark.  

A few weeks ago, I received an email from Laura Gray, a mother whose oldest son was recently diagnosed with epilepsy.  Instead of giving in to fear and frustration, Laura took the opportunity to write a feature article for a medical journal to educate others about epilepsy.  Laura was excited to share both her article and personal story here as well.  Read on as Laura shares her family’s story in her own words.

My Son: The Epileptic

Being a single parent of a 12 year old boy is never easy but when that boy has a lifelong condition like epilepsy things can be really tough. I am that mother and my son John was diagnosed with the condition when he was 8. This is our journey.

As a child

From the age of about 4 or 5 I used to notice that John would occasionally ‘space out’ for a couple of minutes. It was as though he couldn’t hear me and wasn’t aware of his surroundings. He’d stare into space and smack his lips. At the time I put it down to his age. He was a young boy with a vivid imagination and I thought he was just lost in his own little world. The rest of the time he was perfectly healthy and because I associated epilepsy with the tonic clonic seizures we see on TV, the thought that his space outs could be linked to that never crossed my mind. It wasn’t until he had his first seizure at the age of 8 that I made the link.

The first fit

The first time John had what many would describe as a ‘traditional’ epileptic fit we were at a local park. It was a hot day and John had been running around for a long time. As I sat on a bench chatting with another mother I saw him fall to the ground and as I rushed over I saw that he was jerking and convulsing on the ground. I was utterly terrified and had no idea what to do. My initial thought was that he was having some kind of heart attack but the other mother, who coincidently had a sister with epilepsy, immediately asked me if he suffered from the condition. Thankfully he came round after a few agonizing minutes and he seemed OK but we still rushed to the hospital to get him checked out.

The diagnosis

At the hospital neurological doctors asked me if all kinds of questions. Had he suffered a recent head injury? Was he on any kind of medication? Had anything like this happened before? It was only when I mentioned his occasional space outs that they seemed confident that John had epilepsy. Still, they ran blood tests and an EEG before finally confirming the diagnosis. At the time I wasn’t sure how I felt. After the shock of seeing him collapse I was overwhelmed with relief that he wasn’t dying but the prospect of having to manage a condition and those fits terrified me. When we got home I did some research and tried to explain the condition to John but at 8 years old I’m not sure how much he took in. He knew something had happened in the park and that he’d had to have tests. He seemed to understand that he’d need to take medicine daily now. But all he was interested in was getting home to play on his computer game.

Life goes on

Since the initial fit 4 years ago John has suffered 6 more tonic clonic seizures. Each time I feel the familiar rise of panic in my chest but with each fit comes a greater acceptance of the condition and more experience in handling them. I put John in a position where he can’t hurt himself, remove any dangerous objects from around him and wait for it to pass. We work together to try and identify what triggered the seizure – usually it seems to be when he becomes overtired so ensuring he gets enough rest is important. John copes admirably with his condition. He is extremely organised and responsible when it comes to taking his medication doesn’t dwell too much. Recently he asked if he could go scuba diving with a group of friends when they visited the beach. Immediately I had to remind him of the dangers of his condition. If a diver were to have an epileptic fit underwater it would almost certainly be fatal. At times when he is unable to do something I can see the gravity of his condition overwhelm him and that’s hard. But he tries to stay positive and I am extremely proud of him.

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Amparo: A Physician in Mexico with Epilepsy

Although she lives hundreds of miles away, listening to Amparo’s story was like looking in a mirror.   As a 29 year-old physician in Mexico City, Mexico, Amparo is also learning how to live with her epilepsy while balancing a family and a career.  Amparo was diagnosed with left temporal lobe epilepsy at age 19 but began having seizures years earlier, before she understood what a seizure was.

At the age of 14, shortly after Amparo started secundaria school (similar to American high school), she began having bizzare events where she suddenly lost consciousness for short periods of time.

“I would be in class and suddenly fall asleep or black out,” she remembers.  “When it was time to go to another class, my friend would wake me up and I would begin again.”  Although she had persistent and recurrent episodes throughout secundaria school, Amparo avoided giving too much thought to her sudden and repeated lapses in awareness.

After Amparo completed high school, she chose her career path and began medical school, as is standard practice for those who study medicine in Mexico.  As a 19 year-old medical student, she was required to attend classes that began at 7 each morning and continued until 3 PM each afternoon.  After a short break, classes would begin again at 4 PM and continue until 8 at night.  Amparo found the rigorous class schedule taxing on both her mind and her health.  During the second semester of medical school, Amparo’s professor asked her a question and she was unable to speak or respond.  The professor encouraged her to schedule an appointment with a neurologist for evaluation of possible seizures.

The neurologist who met with Amparo “asked a lot of questions” and helped identify an event where she sustained significant head trauma as a young child which may have been the inciting incident for her seizures.  An EEG confirmed complex partial epilepsy with secondary generalization.  Amparo was started on the anti epileptic medication levetiracetam but she did not experience any improvement in her symptoms.  In the months that followed, she tried primidone, which made her feel persistently drunk, carbamazepine, topiramate, and valproic acid.

Despite her recent diagnosis of epilepsy and frustrations with medication trials and failures, Amparo did her best to continue in medical school and perform at the level of her classmates.  She excused herself from class when she experienced a seizure but then returned to her work promptly.  She became discouraged, however, when one of her professors quietly urged Amparo to reconsider her decision to be in medical school.  “Because of your illness, you won’t be able to finish medical school and become a doctor,” her teacher warned.

Amparo confided in her perpetually supportive mother.  “Mom, they tell me I’m not able,” she complained, considering what her other career options may be.

Amparo’s mother provided the strong and unweilding voice that she needed.  “Amparo, you’re here.  You’ve already made it to medical school.  You must stay and get your degree.” Amparo also was reassured by the strong support of her younger sister, who assumed the role of eldest child when Amparo had a seizure, and her father, who worked many hours to pay for treatment of Amparo’s epilepsy.

A short time later, Amparo informed her doubting professor and other medical school faculty members that she wouldn’t leave school before her graduation.  They would learn never to question her abilities again.

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Despite her commitment to continuing her studies, Amparo still suffered from persistent seizures.  Eventually, she had to drop some classes in the academically rigorous fourth year.  During her 5th year of medical school (which is similar to Internship in the U.S.), Amparo was expected to work in the hospital for long hours every day.  Her teachers and mentors and spoke with her and elected to take a year off to focus on achieving seizure control.  During this time, she took the classes that she had to discontinue the previous year and tried her hardest to rest and recover.

Although Amparo fared relatively well during her year away from medical training, her seizures returned almost immediately when she returned to school.  Early in the academic year, she suffered a prolonged seizure, or status epilepticus.  In the weeks that followed, Amparo visited her neurologist and was told that epilepsy surgery her best option.  A MRI confirmed a seizure focus deep in her left temporal lobe.   During the pre-surgical testing, Amparo was warned that she may have difficulty remembering names or words to describe objects after her epilepsy surgery.

Amparo had a left temporal lobectomy in March 2009.  Even though she felt great pain as she woke up from anesthesia, she also was enormously relieved to immediately recognize her physician.  As she recovered, she worked with a neuropsychologist to help regain her speech and language capabilities.   Amparo enjoyed two years free from seizures after her surgery.  She completed medical school and began to consider what type of medicine she wished to practice.

Lobectomy

Scar over left temporal lobe after surgery

My sis and me after my surgery

Amparo and her sister after surgery




After two years of seizure-freedom, Amparo talked to her neurologist about discontinuing her anti-epileptic medications.  With his approval, she began a slow wean off her medications with excitement.  But as she weaned to half of her previous dose of medications, Amparo’s epilepsy returned.  She sustained another prolonged episode of status epilepticus and was admitted to the Intensive Care Unit in a medically-induced coma.  Amparo had another prolonged seizure in the days that followed and remained in the hospital for one month.  She reports that she walked the brink between life and death during that hospitalization.  “It was awful.”

Amparo was started back on anti epileptic medications and now suffers approximately one complex partial seizure every two or three months despite her three daily medications.  Because her partial seizures sometimes lead to generalized tonic-clonic seizures, she has sustained a variety of injuries over the years.  She has broken her finger, lacerated her eyebrow, cut her lip, and injured her elbow.  The visible and invisible scars left from injuries related to seizures have affected Amparo deeply.

“Sometimes when I look in the mirror, my reflection causes pain in my heart.  It just doesn’t seem fair.”

However, despite her trials, Amparo continues to maintain a healthy sense of perspective.  “There are always people who have it worse than I do,” she said.  “Others with epilepsy don’t have the opportunity to have the career that I have, or even the family that I enjoy.  I have a problem but I also have lots of opportunity.”

Still, Amparo states that fear of when the “next seizure” constantly haunts her.  “I count each day from a seizure.  My family watches me closely the day of a seizure but as time progresses they back off.  But I am always wondering when the next one will come.”

Amparo also acknowledges that the public perception of epilepsy in Mexico and worldwide is still significantly different than the truth.

“People with epilepsy in Mexico talk less about their disease because it’s better if others don’t know if they have it.  They think that if they don’t talk about it, they will be less affected.

“People in Mexico think that seizures occur because epileptics have some kind of venom. Patients are tied to their desks because they have epilepsy. We have to make a change here. It’s difficult, but we have to do it.

“I feel like I have the responsibility to help make epilepsy acceptable,” she said with determination. In effort to educate others about epilepsy and its associated stigma, Amparo is currently completing her Masters Degree in Bioethics. The title of her thesis is “Discrimination that Suffer Mexican Persons Who Have Epilepsy in the Field of Work.” She chose this theme because she knows what it’s like to feel discrimination, but she also wants to teach others to rise above their seizures and work toward their academic and professional goals.

“I still have problem remembering names of people I have just met and sometime of people I have known for years,” she said. “But even though I have epilepsy, I had had surgery, I have won a wonderful life full of important friends and family that help me, and I have learned that we are always capable of new things.”

Please pass it on.

Art

Artwork that Amparo created after epilepsy surgery

 

 

Family

Amparo, her sister, and parents

 

 

 

Charlie Claire

After struggling to get pregnant, Kristin and Jason were delighted to learn that they were expecting twins. Even though she was carrying a double burden of babies, Kristin sailed through her pregnancy and delivered a healthy boy, Jackson, and a healthy girl, Charlie Claire, just two weeks prior to their due date. The North family rejoiced at the addition of their two blond, cherubic babies.

The first two days of the twins’ lives went exactly as planned. Both Jackson and Charlie fed well and seemed to be adjusting to newborn life. But on the evening of her second day of life, when Charlie Claire’s father was feeding her a bottle, he wondered if her color appeared a little “off.” It was hard to tell in the dimly lit hospital room, but Jason wondered if his new daughter was the color of ominous thunder clouds instead of the expected baby pink. Before Jason and Kristin could think more, the episode was over.

The following morning, however, Charlie had another brief spell where her appearance altered. This time, Charlie was taken quickly to the nursery and was found to have low oxygen levels. Even though Jason had already left the hospital to get things ready for the twins’ expected discharge, a nurse quickly informed Kristin that her new baby had “bought herself a 48-hour stay” in the Neonatal Intensive Care Unit (NICU).

Throughout the day, Charlie Claire had many similar dusky spells. The NICU provider on duty noted that Charlie’s eyes repeatedly drifted toward the right with each spell. Eventually, Charlie’s parents heard a diagnosis that they never expected but that would become alarmingly familiar as time progressed. After monitoring Charlie for the entire day, the NICU provider ventured, “I think she’s having seizures.”

Shortly after this revelation, an EEG confirmed the presence of seizures. A subsequent MRI revealed a malformed region of Charlie’s brain. Charlie was started on the anti-epileptic medication phenobarbital and the spells stopped almost immediately. After over a week in the hospital and careful adjustment of phenobarbital to acceptable levels, Charlie Claire was sent home to join her healthy twin brother.

Things went smoothly initially after Charlie’s hospital stay and seizures began to feel like a distant memory. But when she was two months old, Charlie’s parents noted that she had brief episodes of unusual movements that seemed like muscle spasms. Charlie’s mother recorded the events and showed the video to her neurologist at a routine visit. Unconvinced the episodes were seizures, he arranged for another EEG.

Kristin vividly remembers the day that she took Charlie for her first outpatient EEG. As she sat quietly in the waiting room, she tried not to worry when the EEG technician rushed out of the room and explained that she was going to get the neurologist. Within moments of the doctor’s arrival, the EEG technician again poked her head out of the room and spoke with urgency to Kristin, “The doctor wants to talk to you.”

Charlie’s EEG revealed that she was having almost continuous seizures. She was admitted to the intensive care unit immediately and was started on a series of different antiepileptic medications. Charlie was treated with Keppra, Dilantin, Tegretol, and her phenobarbital levels were increased. Still, she continued to have seizures. Finally, one of her neurologists conceded, “we’ve done everything that we can do. Charlie will need to have brain surgery for treatment of her seizures.”

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One month later, Charlie’s seizures were characterized as infantile spasms (IS). Her diagnosis of the developmentally detrimental IS placed increased urgency on the proposed brain surgery. Still, her doctors warned that surgery was too high-risk until Charlie was six months old. Holding their struggling two-month-old in their steady arms, Kristin and Jason prepared for a long wait.

Months later, Kristin and Jason remember the staff at Virginia Commonwealth University hospital (VCU) as being welcoming, gracious in their explanations, and hopeful while speaking about Charlie’s future instead of focusing on the challenges of today. Charlie had surgery to resect the malformed area of her brain in her right temporal-parietal-occipital lobe in March 2011. Immediately after her surgery, Charlie’s infantile spasms disappeared.

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 But on Mother’s Day 2011, Charlie’s parents noted that she started having another type of event where she would briefly look to the right, flutter her eyelids, giggle, and then return to her normal demeanor 30 – 45 seconds later. This time, Charlie was diagnosed with the more benign simple partial seizures and started treatment with Lamictal. A repeat MRI and EEG confirmed the remaining presence of a malformed portion of her occipital lobe. Charlie had a second resective surgery in the fall of 2011 to remove the remnant of irregular brain tissue. Unfortunately, her second surgery did little to change the nature of her partial seizures.

     

Charlie will be 4 years old in October. Her parents report that by all accounts, she is a normal, active, and happy little girl. Like most young girls, she has memorized all the words and characters in the movie Frozen. She also fosters a fierce bossy streak that lends a charming “sassiness” to her demeanor. Her parents were filled with pride when they took their twins to a birthday party and another parent expressed disbelief upon hearing Charlie’s history of two brain surgeries and epilepsy. “I would never know!” the other parent effused. “She doesn’t look any different than any of the other children!”

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But despite outward appearances, Charlie still has her share of challenges to face as she grows. She works with a physical therapist, occupational therapist, and speech therapist five days a week to help her maintain and acquire new skills. Her depth perception and vision is affected by the visual field defect acquired through epilepsy surgery.

Charlie’s parents report that her positive outcome has been directly affected by her twin brother, who has been Charlie’s greatest teacher. “All along the way, Jackson has been present to challenge Charlie,” Kristin reports. “Anything that he is doing, she wants to be doing.” Jackson doesn’t remember the periods of time when Charlie was critically ill in the intensive care units, but he was fascinated by the hat of wires she wore during her recent inpatient stay for a continuous EEG.

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While raising twins always has it’s challenges, Kristin states that her experiences with Charlie Claire have taught her a lot of things about parenting.  “I’ve learned to always trust your instincts about your own child,” she said. “When Charlie started having her seizures, I thought that something was wrong and there was.

“I have also learned how to consistently go to bat for our daughter. I’m determined that Charlie will never fail due to lack of effort on our part.

“Charlie has also taught me not to get ahead of myself. Often I have worried about things such as what if she doesn’t pass the next test, what if she doesn’t do well in kindergarten. . . I have been forced to learn to enjoy Charlie today and every day.”

Kristin’s voice is hopeful as she summarizes her family’s journey with Charlie Claire so far. “We didn’t know what to expect. Everyone said, ‘we don’t have a crystal ball,’ now people at birthday party have no idea what she’s been through. We could have only dreamed that we’d make it this far.”

You can learn more about Charlie Claire’s journey on Kristin’s blog: http://www.charlieclaire.com

Please pass it on.

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Merrily: An attorney with epilepsy

The year was 1973 in a small, rural town in northern Texas. Merrily, at the tender age of fourteen, was mourning the recent loss of her mother only months before. One summer night she joined her friends and neighbors at a local party and reveled until the early morning hours. Shortly after she returned home and tucked herself into bed before dawn, her brother found her seizing. Merrily only remembers waking up in the small community hospital.

News of Merrily’s mother’s recent death had travelled quickly through her small hometown. Merrily remembers that the hospital staff questioned her about drug and alcohol use, suspicious that such behavior had brought on the seizure. At least partly because of this, Merrily was not offered a period of observation, evaluation, or any diagnostic tests after her first generalized seizure. Instead, it was assumed that the seizure occurred secondary to a chaotic lifestyle.

Despite her community’s ill-informed fears, Merrily succeeded through high school and went on to college. Six years later, a sophomore in college, she was sitting alone at her kitchen table after work. Abruptly, Merrily found herself on the floor. She was sore with full-bodied muscle aches and confused. Later she would learn to recognize the identical sensations as those she felt as she was recovering from a grand mal seizure. Since she didn’t know how to interpret the event at the time, she moved on with her studies.

Merrily moved from college to law school, where the course work and competition required long hours of studying. While she was studying late one evening with her husband, she succumbed to another seizure and woke with emergency medical personnel standing over her. After this event, Merrily was referred to a neurologist who finally diagnosed her with epilepsy. Merrily was given a prescription for Dilantin but the side effects of Dilantin affected her ability to think clearly and caused significant fatigue. As a second year law student, she couldn’t afford to feel anything less than her best. Later, she was switched to phenobarbital, which she tolerated well but interfered with her future plans to have children.

After Merrily graduated from law school, and thought seriously about having children, she went back to her neurologist and asked to wean off her anti epileptic medications. She hadn’t had a seizure in two years, and she was feeling well. Both seizure and medication free, over the ensuing six years, Merrily delivered three perfect daughters. Fully immersed in her life as a mother and her practice as a lawyer, Merrily was sure that epilepsy was a thing of the past.

But as time passed and her daughters grew, Merrily developed episodes that she thought were panic attacks. The brief episodes were characterized by severe anxiety and foreboding that would appear for ten to fifteen seconds and then pass. Eventually, in 2012, almost thirty years after she stopped taking anti epileptic medication, Merrily had an event that changed her life yet again. She was sitting in her office over lunch, listening to a webinar and watching the slides flip on the screen. Suddenly, Merrily started to feel “funny” with abdominal discomfort and a rising heat that ascended to a tightness and pressure in her head. She struggled to read the words in front of her. She knew the clustered letters were language but she couldn’t make sense of the words. The next moment that Merrily remembers is when she woke on her office floor with trembling muscles and full body pain.

“After thirty years, epilepsy wasn’t even on my radar. Still, I knew what happened immediately.”

After her seizure in 2012, Merrily again established care with a neurologist and learned about how treatment and evaluation of epilepsy had changed in the interval thirty years. She realized that her self-diagnosed “panic attacks” were actually simple partial seizures.   Through diagnostic testing and further evaluation, Merrily was found to have a developmental venous anomaly (DVM) on the left side of her brain near the junction between the frontal and parietal lobes. Although some experts believe that Merrily’s DVM is unrelated to her seizures, others wonder if previous small areas of bleeding from her venous anomaly could have created a seizure focus.

Since Merrily’s epilepsy resurfaced in 2012, she has tried a variety of medications with various degrees of success. In many cases, the side effects of the medications were intolerable. “Zonisamide made me depressed and stupid,” she said. “Trileptal made me want to eat everything in sight, gave me daily headaches, and made me slow. Lamotrigine worked for a while but not as well as I had hoped.”  Despite multiple medication trials, Merrily continues to persevere and work successfully as a lawyer at a financial firm in Texas.

Merrily reports that one of the most bothersome symptoms that has appeared with her most recent experiences with epilepsy are her struggles with speech and language. “When my seizures started happening again, I was having speech and language issues. I didn’t know if this was occurring as an aftermath from a big seizure or secondary to a smaller seizure. I would be sitting in a meeting, trying to describe something, and then wouldn’t be able to find the right words. I could not get across complex idea and would have to use simple, inadequate language that was uncharacteristic of me. I also started to do weird things and reverse sounds of two words together. When I tried to say hot dog, it would come out as ‘dot hog.'”

She started working with a speech therapist and has gradually seen her speech improve. Despite her day-to-day reality of medications and side-effects, she has not told many people other than friends and family about her epilepsy. She found that the stigma surrounding epilepsy remains shortly after her seizure in 2012.

“After my grand mal seizure in 2012,, I wasn’t able to drive for several months. At lunch with colleagues, I shared my recent diagnosis of epilepsy and looked around the table when I was done talking. No one said a word. They didn’t know how to react.”

Eventually, someone spoke up and said, “the only thing I ever heard was to keep a seizing patient from swallowing their tongue!”

Through her journey, however, Merrily has learned many things.

“I have learned not to doubt myself,” she said. “All those years I was having small seizures, I thought I was overreacting to my symptoms when actually there was a neurologic reason for my sensory events.

“I have also learned to seek help from professionals when I need it. There are many things that go along with a diagnosis of epilepsy — trouble with memory, cognition, emotional and social issues, and considerations for the workplace that I didn’t originally understand.

“I have learned to seek information when my questions were left unanswered. I want to know if there is anything else that can be done about this other than these horrible medications. I don’t hesitate to email doctors who have done studies that I have been interested in.”

And finally, and perhaps most importantly, “I have learned to be patient with myself. This is something that I’m not always that good at, but I try.”

Merrily has also realized that the more she talks about her epilepsy to others, the more she is able to correct lingering misunderstandings amongst friends, colleagues, and family members. She, too, has come to the conclusion that the more we talk, the more we understand.

Please pass it on.

Merrily with her 90 year-old father, Thanksgiving 2012.

Merrily with her 90 year-old father, Thanksgiving 2012.

 

 

Alex and George: Living a Full Life Despite Seizures

Twin brothers Alex and George share many things.  They share their love for the martial arts.  They both have achieved the level of black belt in tae kwon do.  They also love to ski, both near their home in Wisconsin and on the significantly more challenging slopes of Colorado.

Alex and George also share their diagnoses of epilepsy.

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Alex and George snowshoeing in Colorado

 

 

 

The tale of Alex and George was told to me by their mother, Maureen, who talked with a combination of emotion and pride over the bluetooth phone in her car while she drove her slumbering teenage sons back from vacation in Michigan.  Every so often, a mumbled “hhhmph” of assent or “harrumph” of question emanated from the teenagers in the back of the car.

Maureen started our conversation by making sure that I knew how far her boys had come despite the challenges that they had faced with epilepsy.  “My mother socializes with a large group of women in the Michigan area and she is holding a fundraiser to raise awareness about epilepsy next week,” she said.  “One of the goals of the fundraiser is to show the important and relevant realities of the disease and how it affects the whole family.

“On the invitation to the fundraiser, my mother and I wrote:  Since their diagnoses 10 years ago, George and Alex have taken about as many medications that are available, have had a myriad of tests,  George had intracranial EEG monitoring, and George had brain surgery.

 Despite all that, they are active, funny, engaging teenagers.”

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Alex, Maureen, and George at Pope Farm Park in Madison, WI

Maureen’s journey with epilepsy began on a Christmas ski trip in 2003 when 5 year old twins Alex and George were sitting outside having a snack in between runs down the hill.  While sitting quietly in the afternoon sun, George started acting differently and stopped responding to external stimuli.  By the time his parents realized something was wrong, he succumbed to a generalized seizure.  The ski patrol office was right next to where George collapsed, so he was promptly put in an ambulance an taken to the local hospital, where a CT scan and all diagnostic studies were normal.  George was discharged from the hospital the next day and he returned home with his family seemingly unscathed.

But George continued to have seizures.  He established care with the Children’s Epilepsy program at Children’s Hospital of Phillidephia and was started on tegretol.   When George’s family moved to the Milwaukee area, his care was transferred to the Children’s Hospital of Wisconsin, where his neurologist recommended an evaluation for possible resection of the focus of his seizures.  George had surgery for placement of intracranial electrodes and then was monitored in the epilepsy monitoring unit at Children’s Hospital of Wisconsin.  His seizures were found to originate from the left temporoparietal region of his brain, the same portion of the brain that houses, among many other things, the circuitry needed for speech and language.

“I’m a speech pathologist,” Maureen stated.  “When Dr. Zupanc  told me where George’s seizures were coming from, it was a low point in this journey.  I knew that if they resected that region, he would never fully regain his language again.”

Instead of having a resection of a seizure focus, George had a vagus nerve stimulator (VNS) placed, which has been helpful to reduce the number of seizures.  He still has approximately one to two seizures a week, despite taking three anti-epileptic drugs.  George continues to ski in Snowmass with his family with the help of a program called Challenge Snowmass that pairs a skier with disabilities with a ski buddy.  George clips into the chair lift and uses a climbing harness while skiing to keep him safe in case he would have a seizure while skiing.  George has also achieved a black belt in tae kwon do and enjoys swimming with his family at the beach — though never without a life jacket.

When George and Alex were 7, in the midst of George’s evaluation for possible surgical treatment for his epilepsy, Alex began to complain of intermittent periods where he “couldn’t see.”   The visual complaints were determined to be focal seizures and before long, Alex had his first generalized seizure.  With both children undergoing treatment and evaluation for epilepsy, Maureen felt like she was being pushed to her limits.

Alex’s focal seizures didn’t always generalize, but they often did.  He began having about one to two seizures a week, but his seizures didn’t seem to be progressing as quickly as George’s had.  Because she was now struggling with recurrent seizures in two boys, Maureen decided to put both boys on the ketogenic diet when they were eight years old.  “I was bound not to fail for lack of compliance,” she said, “so I measured every morsel of food for one year.  The worst part of it was the daily grind and the limited repertoire of what we could eat.”

Maureen remembers Alex’s last seizure like it was yesterday.  “I took Alex to Michigan in December for a holiday music performance and he had last seizure in the lobby of the Interlochen Music School Auditorium.  After that, we were able to sit down and enjoy the performance.”  Not long after that, Alex stopped the ketogenic diet and was switched to Depakote.  Alex has been on the same dose of Depakote for the past seven years and has not had a seizure since.  His EEG his still active, but his clinical seizures have stopped.

Maureen has realized that raising two boys with epilepsy has not only changed her perspective about seizures, but molded her view of life in general.  For better or for worse, she’s gotten used to watching her sons’ seizures and supporting them through them.  “I’ve seen George have 95% of his seizures.  After the initial panic is over, I’m the one consoling everyone else.  I’ve seen it before and I’m used to it.  George had a seizure on the first day of middle school and the case manager was a wreck.  I was the one that had to calm her down.”

And having Epilepsy as an additional family member has also given Maureen and her family a chance to appreciate the simple things and celebrate the small successes.  She reflected, “It’s pretty easy to get bogged down in the worry about the future.  Every parent gets worried about their kids.  It’s 1000 times worse when you have a child with a medical problem or some sort of special needs.  But, you need to look at every day and the success of each day and see that they accumulate and trust they’ll find their way in the world.”

When I asked Maureen how she’s managed with a life of uncertainty, she replied, “You have to take every day and prepare for the worst, and hope for the best.  It’s a balance between worrying about what’s going to happen and being thankful for every good day that we have.”

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Alex at Cascade Mountain, Wisconsin

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George at the UW arboretum

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!)

Guest Post: Savanna’s Story

 

The following post was written by Ken Lininger, father of Savanna and author of Savanna Lininger’s Journey with Epilepsy blog.

 

Wonderment and Joy!

Twins, Savanna on the left.  So precious.

I knew big news was forthcoming when Rebecca visited my office unannounced.  Yes, we both wanted to have more children.  But with Tristan a month away from turning 3 and Brandon 6 months old, we were just starting to find our way again.  There before me was my beautiful wife not speaking and showing me an ultrasound picture clearly indicating 2 embryo sacs!

The pregnancy went great, well, aside from the morning sickness that was more like all day and all night sickness throughout the pregnancy.  Yuck.  The delivery went well.  The babies were healthy, Apgar scores 9/9 for both.  Everything seemed perfect.

I Think Something is Wrong?

After about 6 weeks, Rebecca said Savanna was having these “episodes”.  One night, Savanna experienced one of those episodes in my arms.  I didn’t panic, but I remember not sleeping well that night as something was clearly very wrong with her and I had no idea what.  A couple of days later, another episode in the pediatrician’s office initiated an ER visit.  That night in the ER was terrifying.  We did not know anything about what they were talking about, and the activity seemed like a frenzy.

Something Is Definitely Wrong.

After passing through the ER to inpatient care at CHOC with Savanna having seizures, we were blessed to fall under the care of Dr. Mary Zupanc – a leading expert in childhood epilepsy.  Epilepsy in general is defined as the occurrence of 2 or more unprovoked seizures.  Unlike adult onset epilepsy, childhood epilepsy in infants is devastating to the developing brain.  Growing evidence indicates early and aggressive diagnosis and treatment yields the best developmental outcomes.  The first step was to rule out all possibilities for Savanna’s seizures being provoked.  This included: a comprehensive history of our entire family, examination of the pregnancy and birth, description of the first months of her life, a physical examination, imaging, and investigation for infection, injury, abuse, etc.  She was connected to video electroencephalography (VEEG) apparatus which measured activity in her brain.  What began as a about an hour test evolved into a 30 hour long-term monitor.

First EEG, Dec 18

The second day in the hospital would see the policeman hovering around our room disappear as injury from abuse was ruled out.  Next steps were a chromosomal micro array test to check for abnormalities, targeted genetic testing for variants in genes known to cause epilepsy, a comprehensive panel of metabolic testing.  This included more urine, more blood, and a lumbar puncture to harvest cerebrospinal fluid (CSF) in a very controlled manner to explore possibilities for metabolic disorders, rare infections, etc.   Finally, a MRI of her brain using advanced protocols.

Sunday afternoon, the Dr. Zupanc visited our room with her team and confirmed a diagnosis of Infantile Spasms (IS).  The news was crushing.  We had researched IS a little and the statistical outcomes were scary.

Savanna had hypsarrhythmia (a very chaotic brain wave pattern), discontinuity (flat brainwaves with no activity at all globally at times), and no normal sleep patterns in her EEG.  IS occurs at a rate of only 1 in 4000-6000 live births.  It scrambles the developing brain, arresting psychomotor function, thereby potentially reversing milestone achievement and/or moderately to severely slowing development – permanently.  Our doctor’s words specifically, ”You need to mourn the loss of your normal child, she is gone.” Harsh words, but a true statement that took many months to process.

A piece of information I initially could not process was the recording of 18 complex partial seizures during the 30 hour VEEG.  All 18 originated from the left temporal and occipital region of her brain.  Acquiring the medical records was very instructive in understanding the real situation after the clinic visits – which can overwhelm you.

My mind raced forward wondering about the future and my thoughts swung from as simple as wondering how she would do in school to wondering if she could die from one of these seizures.  Study data readily available indicated a grim outlook for patients like Savanna.  The epileptologist told us “You cannot trust most information on the internet, as most of it just isn’t accurate…”   She went further to say, and I paraphrase, “we are learning that very aggressive treatment early in the process allows a better outlook…”  Looking back, honestly I didn’t know what to think.

Why Did This Happen?

A question pondered even by the most faithful in God.  Most likely, she experienced a spontaneous genetic mutation at conception that manifested while the brain was forming in the womb.  This is a complicated process where cell proliferation, neuron development, and cortex organization occurs.  It is a fragile process, despite the robust outcome experienced by the majority.

So, What Does She Have Exactly?

Infantile Spasms (West Syndrome), is still considered a primary diagnosis, with three variations: idiopathic (no known cause), symptomatic (a secondary condition where cause is known such as a brain malformation, tumor, injury, etc.), and cryptogenic (where the cause will be known eventually).  Growing evidence shows a trend towards the symptomatic diagnosis and its association with brain malformation is significant.

Untreated or even not fully controlled, the IS would likely wreak havoc on her brain.  She would have very slow development.  The IS would evolve into Lennox-Gastaut Syndrome (LGS) where she would have perhaps multiple seizure types, and low chance of seizure control.  She would most likely be affected globally, but would probably have some major systems affected more than others and this might lead to other diagnoses such as Cerebral Palsy.  She might walk, she might not.  She would not be able to live on her own.  She may or may not experience love and happiness.  Most likely, her lifespan would be very short.  It was clear, we needed to act aggressively with a sense of urgency.

So What Now?

She started ACTH monotherapy on December 19th, the day after her diagnosis.  This is one of two FDA approved frontline treatments for IS.  It is hormone therapy that stimulates the adrenal gland to produce a hormone that affects the brain.  She experienced significant hypertension right away, which kept her in the hospital while gaining control.  Christmas Day, Savanna was discharged.  I walked out of CHOC, 8 days after our ordeal had begun.  There was a feeling of closure to this horrible chapter of her life.  But it was just a preface.

Savanna had been on the ACTH monotherapy for about 8 days when she experienced her last Infantile Spasm cluster.  When she did not have a cluster on December 28th, we were beside ourselves and honestly didn’t know what to think.  She was cured, right?  Wrong.  I believe while God was allowing this, He was also leading us wisely to the right choices.  It was difficult to process, but He was with us.

A routine EEG December 30th, would confirm lack of hypsarrhythmia, lack of discontinuity, presence of normal sleep patterns,  – all good attributes of an EEG – but Savanna was still experiencing some complex partial seizures.  She started Sabril (Vigabatrin) January 1, 2012.  That was the second front-line medication intended to treat the Infantile Spasms as well as the complex partials.  (Sidebar: the Ketogenic Diet (KD) was also presented as an option but most people felt she was so small in age and size, that she may not tolerate it very well and monitoring and maintenance may be difficult.  As a result, we did not try it at this time or as the first treatment option.)

Profound Insight.

We later obtained the records, and with a greater understanding of the situation read the minutes of the discussion in a clinic visit on December 30, 2011.  Dr. Zupanc wrote that she told us that Savanna probably had Cortical Dysplasia and would benefit from a surgical treatment.  She went further to annotate that she told us that Savanna would probably need a TPO (Temporal Parietal Occipital resection)  and would have about a 40% chance at seizure freedom.  About 9 months later, that is exactly what transpired.  She also said a hemispherectomy may be considered to control the seizures.  Amazing insight so early in Savanna’s Journey.

Suddenly Having a Special Needs Child – A New Normal

Within a couple of weeks of the start of ACTH therapy, milestones melted away, muscle tone liquefied, and nearly lifeless was our Savanna.  She stopped smiling and laughing and started crying and fussing.  God’s plan for Savanna was still unclear to us.  He did not cause Savanna’s situation, but He has allowed it.  I prayed, we prayed, others prayed from far away places for a cure and a stop to the suffering, for a miracle through divine intervention we call modern medicine.

2012 February

After a few days in the hospital with double pneumonia

The side effects from ACTH therapy (Cushing’s Syndrome) overcame Savanna’s ability to thrive.  She was silently aspirating having lost full command of the breath/swallow muscle control and we didn’t realize it until it was too late.  The chronic aspiration of feeds had finally manifest into pneumonia and she was in respiratory distress.  To the hospital.

Once there, I walked into what seemed like chaos.  More or less dismissed as an important person in her care, I finally met the doctor orchestrating this effort and could see the genuine concern for her well-being in his eyes.

What became the next 21 days, was a very difficult experience as a parent.  In and out of the PICU, the feeling of helplessness filled the air.  The doctors seemed to have few options left after about 10 days and the treatment eventually became a wait and see event (with lots of drugs too).  We were asked if we wanted a DNR implemented.  It was a really tough time to get through.

Rebecca and I were trying to keep Savanna’s situation separate from our professional lives for fear of discrimination.  An extended hospital stay removes the boundaries of separation.  It opens the curtain to the audience despite all efforts to keep it closed.  The veil of secrecy cannot be maintained while being honest with your friends and co-workers.  While I was working significant hours overnight remotely from the hospital, it went mostly unseen at that time.  And, it did not replace my presence in the facility.  It eventually catalyzed major change in our family as our paradigm shifted.

Moving Forward

Savanna was discharged needing supplemental oxygen, feeding through a NG-tube, and monitoring of vitals.  A few weeks after the last dose of ACTH, she eventually shed the need for the oxygen, the very close monitoring of vitals, and many of the medications related to treating the ACTH therapy side effects.  All of this made life easier.

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Another long-term VEEG would show she was not having complex partials, but still had abnormal activity and some electrographic or sub-clinical (simple partial) events.  This good response to medication in the world of epilepsy, is commonly called “A Honeymoon Period”, as it refers a time period with good seizure control or perhaps seizure freedom.  You live life unlike what you could have done before.

Still struggling with feeding and failing another swallow function study lead us to place a permanent G-Tube.  A Monday morning clinic visit transformed into a 3 day hospital stay.  Looking back, it was the single most helpful prophylactic measure we took for Savanna’s health.  It was great advice from honest doctors, and we were really fortunate to have listened to their council.

Continuing in this honeymoon period, she responded well to the medications and began to thrive.  There still were difficult times, but we needed to take full advantage of these ‘good times’.  We started occupational and physical therapy.

Big Changes Coming.

It was during this time we decided to move closer to our family in the midwest.  The criteria matrix guiding our move lead us to Houston, Texas. We decided I would stay home to raise kids and manage Savanna’s care as it was clear she needed full-time help.  Six weeks from the time we decided to move, we were unpacking our things into a new house in Houston in June, 2012.

Laguna Beach August 2012

With the future unknown, we scheduled a 36 VEEG coincident with a planned trip back to CA for a wedding.  We arrive in CA, and on the second day witness Savanna have a seizure.  It was a breakthrough seizure, or so we thought.  It escalated rapidly, and she began to have cluster episodes.

Once again, I felt the need to hide the problem that week.  We were there in support of family for their wedding day.  We did not want to become a distraction.  Fortunately, we had the 36-hour VEEG test scheduled, and everybody around us knew it.  So were able to keep the emotions and situation under the radar at the time.  How small were those thoughts?

The brain is a unique organ, the only organ that can regulate its supply of blood.  It goes through dramatic change in the first 3 years as cortex organizes, neurons migrate, and pathways form.  The infant brain is very different from the adult brain even in the same person.  It is so easy to blame a change in medication (or even a lack of change) for new seizure patterns in young children that could be initiated by growth and change.  Savanna’s brain was changing, and so were her seizures.

Not knowing when her situation was going to change, keeps you in a constant state of heightened awareness, and let me say that it is an exhausting way to live.  It drags you down.  It demands your attention.  It absorbs all your patience, leaving little for others in your life.  For parents, Epilepsy in small children can represent a security stolen from you that can never be regained no matter how effective a control measure.  You always wonder about the random abnormal looking movement or facial expression.

Complex Partial Seizures, Without IS

VEEG captured a significant cluster and consultation with our epileptologist later that day confirmed our fears.  She had a breakthrough complex partial seizure cluster that originated from the left posterior temporal lobe, which is where she has always had abnormal activity.  This was a new seizure type, as it was not accompanied with IS.

The first step was an attempt at medical control.  Savanna was loaded with Phenobarbital to control the seizures.  She slept almost immediately with initial load via IV.  She awoke completely altered.  Her hysteria and rage was something I had never seen before from her, or any other child.  I used to question the need for the metal cribs that convert into a ‘cage’ in the EMU.  No longer after this day.

A final discussion with Dr. Zupanc about her disposition was troubling.  She felt her behavior may not be related to the drugs.  This could be the natural progression of her disorder in her brain.  Discharged and concerned, we took her to attend the wedding reception.

It was refreshing being around family, but 50 hours straight in the epilepsy unit requires some decompression before re-entering society.  I watched my daughter go from person to person, and I could see how far away she was her in disposition.  All I wanted do was hold her.

Seizures and Traveling.

One day later in Phoenix during the journey home, the seizures returned.  Still inexperienced at dealing with this, a sense of urgency overcame me.  I didn’t know what to do.  I admittedly had a few minutes of panic.  I called Rebecca (who took a flight home to cut the time away from work), and I could hear the panic in her voice as well.  We were both calling the on-call neurologists in California and Texas trying to get someone to help us.  We only had one clinic visit with the neurologist, Dr. Gretchen Von Allmen, in TX and they were not fully up to speed with Savanna’s situation at that time given the new developments.  Finally, I worked through my options with the on-call Fellow neurologist with the new team in Texas.  We decided to increase the Phenobarbital, then watch the situation.

We got on the road the next morning to El Paso and the seizures started again.  In the end, we maximized the Phenobarbital, but it did not control the situation.  I rushed to get home and to the hospital.  Looking back, it was not necessary to rush.  Straight downtown to TMC after driving nearly 750 miles, did not help the situation although it felt like it was the correct course of action.  I felt better, but the stress probably contributed to Savanna’s seizures.  After some time in the ER, Savanna was transferred to the EMU (Epilepsy Monitoring Unit) at Memorial Hermann Hospital.

What, Seizures Coming From the Right Side Now?

A 23 hour VEEG indicated she was having seizures originating from the right and left side of her brain.  Devastating news, again.  But this time it was different.  We had this hope that the right side of her brain was more healthy, and maybe she could still thrive if a hemispherectomy or smaller resection was undertaken.  Released from the EMU, off the Phenobarbital, and on Keppra, the seizures were still happening.

A Perfect Storm

We were given a script for the diazepam rescue medication and instructions on when to administer.  This in and of itself was a bit scary.  Dr. Von Allmen was boarding a plane to France where she would stay for about 2 weeks.  It was a trip that is a once in ten-year event – what are the odds?  Her availability was limited to overnight email while her Fellows would make primary decisions.  We had no idea how difficult this resulting situation would become over the next 2 weeks.  It was a perfect storm.

What would ensue was nothing short of a nightmare for any parent.  Savanna went from a few seizures per day to around 100 seizures per day, coming in clusters of 2-15 seizures.  I think any parent’s first thought is to take her to the emergency room.

It took a number of ER visits, but we finally learned a difficult lesson during those two weeks.  Even as advanced as we are here in the USA, not only are emergency rooms not designed to deal with infants like Savanna, but that there really does not exist a better vehicle to access care in crisis.  Growing evidence supports the assertion that all means possible be taken to control the seizures.  This theory doesn’t flow into Emergency Room care protocol for this scenario.

During these two weeks, we had days that seemed manageable, and days that seemed completely out of control.  We didn’t have access to needed medications, experience with their administration, access to diagnostic services, or a plan.  We were genuinely frightened for our daughter’s life, and contemplated taking her back to her first doctor in California.

A Significant Learning Period

The next couple of months much changed to gain control of the seizures.  Watching the seizures increase in frequency and severity despite many changes in medications was scary.  The following is a short list of what we changed in an aggressive attempt to control her seizures:

  • optimized her Sabril dose to the maximum 200mg/kg/day
  • optimized the Keppra to the maximum 60mg/kg/day
  • added on Ativan at .1mg/kg TID
  • increased the Ativan to .2mg/kg Q2
  • administering Diastat almost daily
  • implemented the Ketogenic diet at 3:1, 3.5:1, and 4:1 ratios
  • discontinued Ativan
  • Added on Onfi targeting 10mg TID

We saw a great reduction in seizures with the Onfi initially, but in the end it failed.

The momentum toward epilepsy surgery was building quickly as her seizure pattern on VEEG scans became very repetitive and all activity was focal in onset.  Another MRI revealed nothing supportive of surgery in the official report.

Savanna’s first MEG study captured a textbook 60 second seizure and was very telling about what was happening and where in her brain.  It was very compelling evidence for surgical intervention.

The surgical path still being defined, her seizures worsened.  30 second single seizures turned into 4 minute seizures, clustering for up to 30 minutes, despite rescue medication administration.  It took over our lives.  She was non-mobile and non-participatory in life at this point.  There was little measurable development.  We considered a medically induced coma until the surgery date.

Next Step: Surgical Treatment.

We meet the neurosurgeon and after an hour or so with him, we more or less understood the major components of the procedure.  The plan was to first perform electrocorticography (ECOG) in the OR.  If the data strongly correlated with diagnostic data to date, perform a resection the same day.  If there was an uncertainty, close, and monitor grid data in the EMU for a few days.  Back to the OR for resection based on ECOG data.  While our surgeon was fine with either direction, we felt comfortable with our team that they would make the best decision for Savanna when necessary.

Savanna’s surgery was delayed to October 24th from a yeast infection on her rear.  We could not have been more anxious about this day.  We made plans for family to be here to not only help with the other kids, but also to experience some of the hospital time with their granddaughter.  The delay in her surgery allowed the grandparents to witness Savanna seizing and the resulting complications with breathing, eating, pooping, etc.  They witnessed administration of rescue medication.  Emotions ran high.  I don’t think they were ready to see what they saw during that time.  Regardless, we really felt fortunate to have family that could walk beside us with Savanna during this part of her journey.

As a side note, many children with seizures have other major systems of the body affected.  For Savanna, her GI tract was difficult to maintain regular movements.  Her situation swung like the pendulum on a grandfather clock once we introduced miralax.  What a joy.  Constipation would lead to pain during urination and frequent bladder infections.  There is no parenting handbook  that can prepare you for what happens after 5 days without a bowel movement coupled with doubling the miralax dose each day until the movement (starting from and adult dose).

Savanna did not handle the surgery well at all.  Because of her sedentary lifestyle on so much medication, she was not healthy going into surgery.  She repeatedly desaturated as her breathing tube became clogged with mucus.  This result was an incomplete resection after grid data was clear on what to resect in the OR.  A lesion was partially resected that included portions of the temporal and occipital lobes, neither lobes being completely removed.  Pathology would show Focal Cortical Dysplasia (FCD) Type 1 widespread, and Type 2a in a local area.  The type 2 is consistent with the lesion they resected and the probable focus for the seizure activity.

Though we took a new child home 2 days after surgery, it wasn’t until about a month post-op, we realized what God had allowed to happen.  We did see some abnormal activity now and then, but that was not unexpected while her brain ‘reorganizes’.  Savanna had a new outlook on life.  She needed exposure to as much as possible to accelerate her development.

The Storm Has Passed, and It Is Like a New Beginningoctober_2012-13-scaled1000

We could travel now.   We could live life in a more normal way. She was calm.  Yes, finally, she was calm.  She was smiling, laughing, and rolling around.  She was pushing up on her hands and made lots of new noises.  You could hold her, and she liked it.  This was not how she acted before surgery.

Savanna’s progress became simply amazing.  Each day was better than the one before.  Days were accented by someone saying “Hey come look at what Savanna is doing…”  The tone was one of elation, relief, and happiness not the somber, ‘here-we-go-again’, tone of the past when a seizure cluster would strike.

Most importantly, she was not having clinical seizures.  It was nothing short of a miracle.

We began the slow, step-by-step process of weaning her off the AED’s and Keto diet.  A trip to visit the family over the Christmas holiday would see the contraction of a nasty gastroenteritis bug that just had its way with our family.  Austin and Savanna were hit especially hard, and in the end, it was the straw the broke the camel’s back with the Keto diet.  We had to stop the diet to get her healthy again, as she could not keep down feeds, even when I reduced the ratio.  Not the end of the world, and now she could eat anything.  We learned she really likes Cheetos!

Return of Seizures

At three months post-op, Savanna had a 23 hour VEEG which unfortunately revealed Savanna was still having seizures.  They were partial in nature, and subclinical.  Subtle signs were there, we just weren’t astute enough to notice.  She was still having 2 and 3 minute seizures.  This was very troubling as we had seen her pace of development take off in every way.

We added on Trileptal while we weaned her off the Onfi.  We began the wean off Sabril and it seemed like her development pace increased dramatically.  The daily PT really advanced her abilities.  She went from barely being able to roll over to sitting up on her own, immobile to a child that was bunny-hop crawling around the play area, and just starting to pull to standing position on furniture.  The complex partial seizures would return with teething pain.  Onfi was added back on, and the Sabril was held at a really low dose.  Another MRI would reveal nothing new (but needed to generate the 3d model for another MEG study).   The second MEG study was not as dramatic in success, but did offer data that was useful.

How Bad Is It?

Sitting in the exam room, we waited for the neurosurgeon who finally burst in dramatic fashion.  He greeted us, then just sat down and said “How bad is it?”  Rebecca and I didn’t know how to answer at that second.  Our feelings were implicit in our presence, but not from his perspective.  The visit ending with him asking us to think about the proposed procedure, and let him know if we wanted to proceed. After a lot of thought, I put the pen to paper (or fingers to the keys rather) and this is what came out:

 How bad is it?  The first question you asked was the one we least expected, thus the fumbling responses.  Yes, she was crying and fussy for the 15 minutes you saw her and we agree, that in itself is not epilepsy.  Until you have lived with a child like Savanna, explanations to your answer are difficult.  Many of us chosen parents attempt to portray this fact/emotion blend through blogs and so forth.  But, until you have lived it as a parent, you cannot understand.   Separating the facts from the emotions is the key to your answer.  You are in a unique position as a highly trained professional dealing with kids like this often, and a parent yourself of I presume typical children (my apologies if I am mistaken).  I have given up my career for the time being to take care of Savanna.  Rebecca has assumed a role out of necessity that supports our basic requirements financially and from an insurance standpoint.  This role is slowly corroding our life as the job sucks – simply put.  Yes, we can and will change that, but when you are in the middle of a battle, sometimes strategic decisions are made to win the war and that was one of them.  We moved our family closer to your place of business and our family for her sake.  It has nearly broken us financially, and for sure wrecked our future financial planning.  She is developing, but at a snail’s pace.  And, now complex partial seizures are back and clustering.  Do we have diagnostic proof of the complex partial seizures, no.  We are willing to run more tests if you need to see more data.  I am using ativan to intervene occasionally and now onfi is scheduled again, TID.  It was just a personal choice to use ativan versus rectal valium.  You are not hearing about idiotic ER visits now, for several reasons.  Dr V is not in France and unreachable.  Now, we are armed with experience, knowledge and access to medications to help her quickly.  It is not because she is not seizing.  Yes, I agree and admit the seizure frequency is lower than before the first resection.  But, how bad is it you ask, it is bad.

Yes…we can probably optimize medications to help her with the complex seizure control, but it will be at the expense of becoming non-participatory in life.  We already see that happening now.  We also feel confident this will over time degrade her state of health and make the procedure more difficult for all parties.  And, she is still having lots of electrographic events.  This is documented.  We are ready to act now.  We say that without the benefit of years of experience you have seeing patients like Savanna and knowing that we are making a dramatic decision that cannot be undone later.  We are making the most informed decision we can based on the collected data, opinions expressed by you and Dr. V, the stories of other children in similar situations, and our faith in your God-given understanding of the science. 

Savanna needs your help sooner than later if you feel she can safely withstand the procedure.  You can help her.  We trust you, Dr. V,, and your team members, to the extent that we are prepared to hand her life over to you for a short while why you all do what you do best knowing the outcome has lifelong effects, some good, some bad, and some risk of unintended permanent effects.  We trust your judgment on the intended procedure plan.  

The Second Resection

We are living now for this opportunity that has given many other parents hope for seizure freedom, and hope for a near-normal life for our daughter.  If successful, Savanna has a 40% chance of becoming seizure free after surgery without medication.  Seizure freedom is required to give her the best chance to develop to her fullest potential.  The odds may not sound good, but when Savanna started her journey her odds of averting severe mental, physical, and emotional handicaps were in the 5 to 10% range.  So to us, 40% sounds very good.  It is “cause for celebration” as our first epileptologist described surgical treatment.

In general, the risks involved in a second surgery are higher than with the first.  And this time, the plan puts the resection close the coveted motor cortex, that when negatively affected can lead to moderate to severe paralysis on the opposite side of the body.  Savanna still is barely above the minimum 10 kilograms at which our surgeon will agree to operate.  Weight requirement you ask?  It has to do with blood volume.  Not enough is not good.  Navigating the previously resected tissue in her brain presents its own set of challenges versus virgin tissue.  She could have a stroke during the operation.  The surgical team could have to abandon the surgery prematurely, requiring a third attempt.  We could lose her.  Most of these risks are very, very small according to the neurosurgeon.  It is beyond terrifying to agree to these risks for your child, when they have little say in the matter.  We stay focused on the 40%.

We have to give her this chance.  We pray that we are not selfishly doing it for ourselves, for a chance to have our healthy baby girl back, a child without lifelong harsh sentence of unknown special needs.  Is it really possible?  How terribly arrogant that sounds as I put my thoughts on paper.  We will love her no matter what, fiercely, and always, but we will do anything and everything within our power to take this burden away from her…away from us…to give her a chance…even a glorious 40% chance…  We pray it is the right decision.

I know that while she’s under, God is holding her. I told her to tell Him, thank you for the time He’s given us with her.  Thank Him for choosing us as her mommy and daddy.  As hard as this has been, we are so lucky and happy to be her parents.  It’s not just the fear of losing her that scares us today.  We have such hope and such fear of the outcome.  It’s possible that the road that lies ahead is harder than the one we have traveled thus far.  We will travel it together, regardless.

The Second Surgery.
Savanna Hospital Second Resection

She struggled to breath, she struggle to swallow, she just struggled.  We were a little taken aback at first, given our first experience with recovery went so smoothly.  That night in the PICU was excruciating.  To see her seeming to struggle just to breathe was painful.  More steroids, more racemic epinephrine, more high flow oxygen, more pain medications, just more of everything.  A few days later, the situation was better but still really difficult.

The right-sided gross motor weakness subsided within a week.  Still today, she has a lack of concern for her right side and will always stand up using her left leg.  We continue to work on forcing her to use her right side to overcome the deficit.

She was very agitated and little could be done to help her.  The grandparents became overwhelmed managing her.  We became overwhelmed managing her.  She was just so unhappy, and this became very demoralizing for us as parents.  And, the complete refusal to swallow liquids or suck was not expected and disappointing.

Admittedly, I used ativan occasionally when the situation was really out of control.  All her doctors but one said this was a bad idea, and implied we didn’t know how to take care of her.

She finally reached a bend in the road with the crying and fussiness about 30 days post-op.  And, it probably had much to do with two of four incisor teeth finally breaking through the gum line.  One thing I have learned is that life’s normal challenges for young children are just that much harder for Savanna.

I realize now these periods were core training for parenting a special needs child.  Necessary to experience to progress as an effective parent.  With faith in God’s word, living through these periods and not losing your sanity is possible.  And, it helps me see the happy times more clearly.

Play time after a bath with twin brother.  Austin and Savanna.

During all the discomfort, Savanna made strides in development.  This was a calming for me, as I knew this would not happen if seizure activity was occurring in the way it was before surgery.  We are using a compression vest and AFO’s to help her with balance, standing and moving about.

At this time, it could not feel better to see her respond when you walk into the room and call her name.  And, then proceed to crawl toward you and transition to tall kneeling with her arms out and up to hold her.  Then comes the inconsolable crying and fussing.  Her movements and behavior when you hold her sometimes is like trying to hold a 25 lb mealworm.  She is just everywhere, every which way, and really low tone at times.

Recovery In The Shadows, About 60 Days Post-Op

In the shadows, we see great things from Savanna.  She responds to her environment like never before.  Strength, she gains every day.  Finding the blessings in each day are easier.  Still refusing to eat or drink, we are blessed to have installed the G-Tube which has allowed us to keep her healthy in spite of her behavior.

She now surprises me with what she can do.

Look at me Dad!

I see a toddler in the shadows exploring furniture and a house she has never seen on her own.  I see things that scare me when she climbs something on her own the first time.  Through teary eyes, I see the innocent love from her brothers who don’t really know what is going on yet.  I see a toddler nearly 21 months old, functioning emotionally at a typical 6-9 month level.  I see a child we are just getting to know.  From what I have read, she is just getting to know us as well.  I see all of this in the shadows of very quick moments throughout the day.  Most of the time though, she is really unhappy and quite a handful to manage.

I have learned a great deal about the sensory input that Savanna needs to regulate herself.  She needed a entirely new sensory diet.  One that included compression, heavy, and vestibular input.  I used the Wilbarger brushing protocol on her.  I built a large sensory swing which has been a savior some days.  She likes music, so we danced a lot.  I learned a lot about patience.

Sunshine After The Rain, About 90 days Post-op

There is nothing like a 3400 mile road trip to bring out the best behavior in everyone – all stuck in the van for what amounted to north of 64 hours.  My apprehension taking Savanna on such a long road trip was high.  Her demeanor the past three months tempered my expectations.

The results from the Bronchoscopy and EGD scope of her esophagus showed nothing was wrong.  Rebecca took her that day, and I remember getting the call feeling depressed.  I desperately wanted something found affecting her that could explain her lack of eating and near constant agitation.  Despite the fact she is not having seizures, we cannot live like this.  For the first time, I actually thought maybe we made a mistake with the surgery.  It was like a dark cloud was following her (and me) and the rain just wouldn’t let up.  I said a prayer that day for God to give me strength to carry on.

So off we went.  Once at the Grandparent’s house, a miracle happened on the third day.  After a typical difficult morning, she awoke from her nap and didn’t cry!  Like the sunshine after the rain, Savanna was suddenly happy!  It was like a new beginning that day.  I didn’t know what to think or even how to appreciate it?  She wasn’t screaming and crying constantly, but I assumed that she would start crying again soon.  Thank you Lord!

She became a Mommy’s girl instantly.  She wanted little to do with me, especially when Rebecca was within sight or earshot.  How selfish was I being a little depressed by this particular behavior, being the only one who could seem to regulate her for any length of time in the past few months.

She could not have been happier once at Rebecca’s parents’ house a few days later.  I tried to explain to those came to visit us the first night in Louisville that this had just happened.  My words fell on uninterested ears, and none of them have really seen her in the last 3 months.  I should have just kept quiet. She smiled.  She laughed.  She was very deliberate with her actions and movements.

The joy of peace and happiness filled the air.  I learned on this trip not to disturb such joy with unnecessary conversation.  I am still learning how to respond appropriately to questions from many different types of people.  The tasks that go into her daily routine make it easy not to see the little victories as clearly as others.  For some, it makes it easier, but not for me.  I am still learning how to exude happiness, elation, and even satisfaction about how great she is doing compared to where she was less than 1 year ago.

I have immersed myself in her every detail of her condition and care, delving deep into how persons like Savanna ‘recover’ or even just cope.  I have results from Early Intervention testing, advanced genetic testing, detailed clinic notes from many types of doctors, and feedback from therapists who spend most of their time with kids like Savanna – all weighing on my mind.  To cope, I spend time helping others work through similar situations, providing support, being a good listener.  All of this activity brings gravity to Savanna’s situation.  Yes, she looks great.  Yes, only Savanna knows what she is going to do in this world.  Yes to all the anecdotal advice we are given.  But my perspective is different. and often I feel judged for not just being so serious about the situation.

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4 months today post-op TPO resection. 4 months today seizure free.

I think once hit on your blind side a couple of times, you naturally tend to pay more attention to that blind side.  In this case, the blind side is her predisposition to seizures for an unknown reason.  Pathology revealed FCD in every specimen.  The margins contained only FCD Type 1, which is ominous in terms of her long-term outlook.  And, maybe it is not seizures that becomes the biggest challenge.  Maybe it is the level of development she is able to reach in one area or another that presents the most challenge to her and us as parents and leaders.

There are still many unknowns.  Today she is isn’t having seizures that we know about, 5 months post-op.  If you would like to follow Savanna’s Journey we invite you to visit the blog.  You can find it at http://www.savannalininger.wordpress.com  Once there, in the right column at the top, there is an email subscription widget that you can enter your email address to receive updates.

Thanks for reading, God Bless,

Ken and Rebecca Lininger

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.

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