A Personal Story of a Child's Life with Epilepsy
There's Something Wrong
Fri., Jan. 6, 2006
I have always wanted to be the mother of a large family. My husband and I were looking forward to having a house filled with the laughter of many children.
When our second child was diagnosed with a serious, debilitating illness called infantile spasms, it seemed that our dream would be dashed.
Eliana was born in 1992 and a sibling for her big sister, Tovah, who was 2. Eliana was a gorgeous, happy baby, and my husband, Frank, and I were over the moon enjoying her. She smiled early and gazed at us with her big, blue eyes. Her smile and her eye contact were two things we would lose in the coming months.
When Eliana was 4 months old, she started to cry a lot. We should have known better than to write the crying off as colic. Colic normally ends at 4 months old, not starts. There is a strange phenomenon called denial. It could not be possible that something was wrong with our beautiful baby.
Those strange little movements she was doing were surely due to a baby's immature neurological system. All babies made odd little movements, didn't they?
We had no idea we were looking at something extremely serious.
At six months Eliana had still not rolled over or used her hands. She continued to cry and scream and make the odd movements. Denial was over. Something was wrong. We could no longer say "She'll roll over tomorrow. Give her time."
The morning of her appointment with her pediatrician Eliana was sitting in her baby seat and she had a series of the movements in a row. Her eyes rolled back in her head and she let out a shriek. This was the worst I had ever seen and I was terrified. My husband and I both went to the pediatrician. The doctor put Eliana on the examining table and lifted her up by her arms. Eliana's head flopped backward and the pediatrician said, "Her head control is terrible."
I heard nothing after that. I left the room and went into the hallway where I leaned against a wall and cried hard.
After a while I was able to re-enter the room and listen to more of what the doctor had to say. "I suspect cerebral palsy, but I am not sure. We need to admit Eliana to the hospital so we can do extensive testing. We need to get to the bottom of this."
One of the tests recommended was an EEG. The doctor said the strange movements could be seizures. Seizures? I thought seizures were all-out convulsions. I never knew they could be as subtle as a head bob.
A flurry of activity ensued. Making sure our older child, Tovah was taken care of, packing a case for a long stay in the hospital. One thing I did was to call my parents who then lived in France. They have always been my rock in difficult times. "Eliana is very sick. It's serious. We do not know what it is."
That's all they had to hear. They drove through the night from Lyon to Paris and boarded the next plane for the U.S.
Getting a squirmy baby to sit still while a technician attaches a myriad of electrodes to her head is not easy. I nursed Eliana while the EEG was being performed. It was to be the first of many EEGs. I became an expert at removing glue from fine baby hair.
The EEG results helped the diagnosis to cement. An awful diagnosis. Eliana had a characteristic EEG pattern called hypsarythmia. The hypsarythmia, seizures, and developmental delay lead to the diagnosis of infantile spasms -- an innocuous name for a devastating disorder.
Bad as this news was, there was worse to come. Infantile spasms can either be a disorder in itself or a symptom of a larger disorder. It can be cryptogenic or symptomatic. We didn't know yet if she had the cryptogenic kind or the symptomatic kind due to possibly a brain malformation, tuberous sclerosis, Down syndrome or Aicardi syndrome.
Eliana turned out to have cryptogenic infantile spasms. The cause will probably never be known. Was it the high fever I had in my first trimester? Something I was inadvertently exposed to? I cannot even begin to speculate.
Ironically, the diagnosis of 'not knowing why' meant a small glimmer of hope. Babies with cryptogenic infantile spasms tend to have a better outcome. Still, the prognosis was incredibly grim: severe developmental delay, difficult to control seizures, physical problems. "We do not know if she will ever walk or talk," the doctors told us.
Eliana was admitted to the hospital during the Hannukah season. According to our tradition, this is a time of miracles. We were going to need a huge miracle.
A Child Suffering, A Family in Pain
Sat., Jan. 14, 2006
Infantile spasms is sometimes called West syndrome, especially in Europe. What is tragic about that name is that Dr. William James West was describing the progression of the illness in his own child.
The drug of choice to treat infantile spasms is a corticosteroid called ACTH. It's very expensive and hard to find. I would find myself going to 10 different pharmacies -- one vial here, one vial there.
The drug is a thick gel that has to be administered by injection. In the hospital, I had to learn how to give the injections by practicing on an orange.
The needles were very thick and difficult to insert, and a baby wiggles and cries much more than an orange. Sometimes the needle would be blunt and I would end up jabbing Eliana's poor leg.
ACTH has some pretty awful side effects. It lowers immunity. Any normal childhood illness thus became potentially life-threatening. While Eliana was on ACTH, chickenpox went around my older daughter's school. Neither child caught it. We were lucky. The lowered immunity did make her a target for thrush so bad that it completely covered the inside of her mouth and most of her face.
Along with the lowered immunity came an extremely Cushingoid appearance. The face swells. Eliana's eyes were barely visible. Along with the thrush this altered my beautiful baby's appearance quite drastically. People felt compelled to tell me that she was ugly and too fat and that I was a bad mother. Incredible -- they knew nothing.
I have heard that parents of children with autism deflect cruel remarks by refusing to engage ignorant people in conversation. Instead, they have pre-printed cards that they hand out that say My child has autism. If you would like to know more call the Autism Society of America.
I wish I had thought to do something similar; it would have spared a lot of heartache. I would break down in tears when the person was out of sight.
ACTH causes babies to feel miserable. Eliana had steroid rages where she would scream as if in extreme pain. This was always completely unpredictable. Once I was accused of abusing my child while I was shopping for diapers and baby food for her. Eliana was in the midst of a rage and there was nothing I could do to help her.
Eliana stopped sleeping on ACTH, she wanted to nurse constantly and cried nonstop. Once she cried so hard that she lost her voice. She refused to make eye contact, she never smiled, and her developmental skills dropped to zero. We were all under a huge amount of strain. One night my husband came home from work and I just handed the baby to him and left the house. I had to go somewhere quiet.
The worst thing about ACTH was that it didn't really help the seizures much. They never stopped. The EEG was modified only slightly and her development seemed to be going backward. We were all miserable and there seemed to be very little hope.
Things were really bleak. Frank and I had been married for five years at the time and together for seven. In those seven years, I had never seen him cry. He sobbed in my arms about Eliana. I didn't stop crying.
ACTH was supposed to work. Now what?
I had seen a story right when we were about to leave the hospital about brain surgery for babies with seizures. I had been frustrated that check-out was taking so long and had merely turned on the TV to pass the time. It seems I was meant to have heard the story.
It seems that babies' brains are resilient and if a radical hemispherectomy is performed, in which the half of the brain which causes the seizures is removed, then the other half can do a fairly good job of compensating. The younger this is done, the better.
So there we were seriously considering removing half of our daughter's brain, thinking that it was a better solution than the constant onslaught of seizures.
Desperate for Answers
Fri., Jan. 20, 2006
About the time that Eliana was 8 months old, I heard of a doctor in Los Angeles who specialized in infantile spasms. I was desperate to see him, but I was looking at spending a lot of time in L.A. and we were not exactly rich.
How on earth were we going to pay for airfare, medical bills, and living arrangements? Our older daughter was still very small. What was I going to do with her? The odds seemed stacked against us.
But things worked out. Grandma from Florida came to take care of Tovah. Our Rabbi raised money for our airfare and the Los Angeles Jewish community opened their homes for Eliana and me. We were on our way. I encountered much kindness, including the flight attendant on the flight over who offered us her house when she heard why I was going out there.
We ended up staying with a lovely family. There were four kids in the family (which seemed like a huge number to me at this point) and the youngest had both Down syndrome and infantile spasms. Marcia R. was an inspiration to me. She was a wonderful mother and her son was thriving. She was an extremely upbeat person and she refused to let me give in to my sorrow.
In Los Angeles, I went to see the doc. He was a little hard to deal with -- abrasive and cold -- but he was an excellent doctor. The first course of treatment he used was to our Eliana on a DOUBLE dose of ACTH.
TWO painful injections every day. Twice the screaming, twice the symptoms. More trips to the ER for even the most minor cold. It was horrible.
I almost gave up hope completely because it didn't even work. She continued to seize, she was miserable, she was still not developing skills. I was in a strange place away from my family.
Our doc decided that Eliana could benefit from a PET scan. Since one side of her body was weaker, it could indicate a focal point from which the seizures were originating, making surgery a possibility.
The PET scan involves injecting a radioactive dye into the body. The machine detects radiation from the emission of positrons and a diagnostic image can be acquired. It sounded all very high-tech and futuristic.
The morning of the PET scan, we arrived at the hospital and Eliana was prepped. All was going well until we heard sirens and saw helicopters circling overhead. Down in the ER, a crazed gunman had taken some doctors hostage and was demanding drugs. We were locked down in the hospital. The test was disrupted and we had to have it rescheduled.
After all that, the PET scan was inconclusive. Another hope dashed -- surgery did not look like an option.
The doctor decided to try a slightly unusual drug to treat the infantile spasms. Even though Tegretol is a common anti-epileptic, it is not often used for this particular type of epilepsy. We were going to slowly wean her off ACTH and add Tegretol at the same time. I remember the sticky, orange liquid that Eliana gladly opened her mouth for. Such a pleasure after blunt needles and her poor pincushion legs.
Tegretol began to work really quickly. Within two weeks of admission, Eliana stopped having seizures. The doc said he had never seen it work so fast. Then the abrasive, somewhat cold doctor made a joke: "I believe the medical term is 'weird'!"
Marcia and I laughed later at the neurological joke. Another thing makes me chuckle all these years later. Ellie had at least 15 EEGs during her treatment. Once I was in the hospital cafeteria getting a salad. There was a bowl marked 'EGG' on the salad bar. I stared it for ages trying to figure out why they had named a salad ingredient after a medical test -- one-track mind, I guess.
After 13 weeks in Los Angeles, Tegretol was working so well that we were able to go home.
Tovah, grandma from England, and Daddy had been able to spend a few days with us in Los Angeles right before we came home. We spent a wonderful day at Universal Studios. Wonderful except that one man decided that it was worth his time to get out of his entrance line to come over to ours and comment on Eliana's appearance.
Still, that barely marred the day. Tegretol was working, Eliana was happier, the sun was shining, and my family was with me. There was hope. I remember that day as extremely happy.
We had four blessed months of seizure-free days. The EEG still wasn't normal, but things were better. Then on the morning of my older daughter's third birthday, Eliana had a breakthrough seizure.
Mon., Feb. 27, 2006
It was back to our local neurologist to try and get some answers.
She told us about a new drug called Felbatol. She was a little reluctant to try it, as it had not been tested well in children, especially children as young as Eliana, who was 18 months old. It also can cause aplastic anemia, which is fatal. Felbatol, even today, is severely limited in its use.
There was also no way to know if it would treat infantile spasms. There was no way to know what the side effects would be for Eliana.
I had a wonderful book in my arsenal of epilepsy books, Seizures and Epilepsy in Childhood by Dr. John Freeman. He's a doctor at Johns Hopkins hospital and they had a program that used a diet called the ketogenic diet. The book contains one chapter on the diet and it sounded really intriguing.
I went to the medical library at our local hospital and read all I could get my hands on about the ketogenic diet. The diet was a very old treatment and had fallen into disuse somewhat. The books I was looking at were from the 1920s. It definitely didn't seem mainstream treatment any more.
But the more I read, the more I wanted to at least give it a go. Did we have anything to lose?
Armed with information, I returned to our neurologist. "I want to know if we could consider a rather unorthodox treatment?" The doctor was willing. That was a blessing. I found out later many doctors were very reluctant to try this diet at the time.
We arranged a date for Eliana to be admitted to the hospital. We were getting good at this hospitalization routine. Eliana was eighteen months old and had seen more doctors than I had seen in my entire life.
The ketogenic diet mimics a state of fasting in the body. Eliana would basically be starved for a period of time until her body began to produce ketones which could be measured in the urine and blood.
After the initial true fast, the effects would be maintained by carefully limiting her carbohydrates and protein and feeding her large amounts of fat. Her body would treat the fat as if it was burning its own fat, a metabolic state known as ketosis.
Most of her calories would come from fat, in fact. Everything would have to be carefully weighed and measured. Even her water intake was to be limited. Any deviations could throw her out of ketosis.
I had to buy a special scale that measured to the nearest gram -- a difficult piece of equipment to find. At one point Tovah said "Right... Eliana cannot have food anymore, she can only have grams."
Everything had to be fine-tuned to find the perfect balance. It took us approximately a month of working with the doctor, nutritionist and Eliana's food preferences until we got it right.
We had to wean her off Tegretol because it contained sugar. Even toothpaste could be a problem. And we had to learn which high-fat foods she would actually eat.
For babies on the ketogenic diet, heavy cream makes up a large part of the fat intake. Eliana was weaned from the breast and started taking cream in a bottle. We learned not to leave a cream-filled bottle in the car unless we wanted butter. One time I was buying her cream supply for the week and the cashier at the supermarket said to me, "You sure like dessert!"
Weighing and measuring became a daily fact of existence. Eliana was on a 4:1 ratio. She ate four times and much fat as protein and carbohydrate combined. This was long before low carb became a national trend. How much easier the diet must be to administer nowadays. We had to become experts at reading food labels.
My parents were visiting from Europe after Eliana had been on the diet for over a month. We were all sitting in the living room when suddenly my father said, "I haven't seen Eliana have a seizure today."
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We looked at each other, startled.
"Jan, have you seen her have one?" "No," I said. "Frank, how about you?" He had not. Mom had not either.
We barely dared to breathe. Could this be the miracle we had been hoping for? Was Eliana really seizure-free?
To be continued...