The First Arrival
Camille’s arrival was as routine and easy as one would expect for her
ever-efficient Mom. With Camille appearing ready for the world four
and a half weeks ahead of schedule – and with her husband away on
business – Julie leisurely prepared for and then drove herself to the
hospital ready to become a parent. To the extent Camille had not been
ready for delivery, her Mom had conveniently dressed for the office so
she could attend her numerous previously scheduled meetings. Camille’s
Dad had just landed in NYC for what he figured would be one of his last
trips before her birth. Fortunately, he was able to catch a flight from JFK
back to LA in plenty of time – Camille arrived at 4:15 PM on Tuesday
October 7, 2003, weighing in at 5 lbs, 7 oz and 17 inches.
The first two weeks were filled with the normal commotion surrounding a newborn’s arrival. Welcoming visits from friends and family, getting acquainted with the basics of parenthood, and realizing our pre-arrival preparation wasn’t as complete as we thought. After a while, things began to settle down. Steve was back to work (ok, he was spotted on TV by friends at Yankee Stadium on October 16 attending Game 7 of the AL pennant series, but it really was work-related). Julie was becoming comfortable with her new sleep-deprived routine. And Camille was acquainting herself with her new world.
The Second Arrival
The arrival of Camille’s seizures came in her third week of life. We didn’t recognize what she was experiencing, at first. They looked odd, but initially not too alarming. At first, she just demonstrated a repetitive jerking motion of her right arm. Over the next few weeks, this evolved into a routine where her eyes rolled back into her head and her tongue protruded, followed by a sudden cry. This was alarming, and by this time, Camille had been seen by a Pediatric Neurologist. Eventually, her jerking evolved into motions similar to abdominal crunches. She would experience these crunches in clusters of 10-40 at a time, 20-30 times per day. At 1,000 crunches per day, we jokingly (gallows humor) discussed how she was developing perfect abs.
Our doctors first thought Camille’s condition could be the result of an immature nervous system - Camille was not yet “technically due” when the seizures started. The initial suspicions of her condition were formed by our pediatrician. After seeing video we had taken of Camille’s ‘jerks’, she scheduled Camille to be seen by a Pediatric Neurologist at Cedars-Sinai for testing.
This initial testing – an EEG (electroencephalogram) – was performed in late November 2003 and was read as being normal. Camille’s condition was attributed to a gastrointestinal disorder - reflux - a not uncommon misdiagnosis of her ultimate condition. Though our pediatrician was skeptical of this diagnosis, we were simply relieved that reflux was the issue (our first experience with the relative nature of conditions, as reflux is in fact a serious malady). A foreshadowing of her challenges to come was, however, signaled by the neurologist prior to our departure. He asked us if anyone had mentioned the possibility that Camille may suffer from Infantile Spasms. When we said no, but asked that he explain, he replied -- “You don’t want to know”.
Pursuing the Diagnosis
After our pediatrician witnessed an episode of ‘crunches’ during an exam in mid-December, she immediately scheduled another round of tests with the Pediatric Neurologist. Camille’s second EEG revealed a brain wave pattern described as mild ‘hypsarrythmia’ – our first indication that Camille had infantile spasms (“IS”). Such a reading is typical of this most serious form of childhood epilepsy (see Medical Conditions for more information), though the subtlety of the EEG did not yet provide a diagnosis of IS. We immediately began Camille on her first anti-epileptic drug - Topamax. As side effects can be expected to accompany all medications, this drug was no different. She became extremely lethargic, practically sedated out of her seizures...Or so we thought.
It would be a month and a half before we would receive a second, confirmatory EEG reading indicating a clear diagnosis of Infantile Spasms. By this time, Camille was having about a dozen seizures a day. In an odd way, knowing what we were dealing with was a relief – though we knew the outlook was daunting. Infantile Spasms is characterized as ‘catastrophic childhood epilepsy’ due to the poor prognosis – intractable seizures and dim cognitive outlook. Only 6-20% will have normal mental functioning and 10% do not survive the first few years after diagnosis. Many children with IS have structural brain abnormalities or other underlying conditions that cause neurological damage.
Now that we had a definitive diagnosis, more targeted treatment was possible. With many drugs available, her condition seemed manageable. A typical first line of defense against IS – and our first choice - was a treatment with a steroid known as ACTH (Adrenocorticotropic Hormone). Though warned ahead of time that this aggressive treatment could have devastating side effects including death in rare cases – we knew that the risks of dangerous side effects were outweighed by the certainty of brain damage from the ongoing seizures. In spite of all our research, we did not expect what was to follow next.
By March 17, 2003 – one month into our ACTH treatment – Camille’s seizures had largely disappeared, though not without expected physical side-effects. Camille developed some cushingoid features (abnormal weight gain) and acne – a small price to pay for near seizure control. At this time, she had not developed any of the more severe side effects of which we were warned. March 17th was also Julie’s birthday, and a relaxing evening was planned. But that night Camille appeared to be in respiratory distress leading us to take her to the emergency room. In retrospect we packed a bit lightly - we did not leave the hospital for a month and only after our little girl had successfully battled aspiration pneumonia, a blood infection (Sepsis), a heart infection (Endocarditis), a urinary tract infection, a tongue lesion and surgery for severe Gastroesophageal Reflux (GERD). Ironically, Camille developed reflux while on ACTH. This led to aspiration pneumonia, which spiraled into the serious medical issues – all of which were triggered by her lowered immune system from the ACTH. The price paid for seizure control.
Camille ultimately stabilized after this four week hospitalization, a surgery, six weeks of in-home nursing care and the involvement of over 15 specialists. Fortunately, their success enabled us to defer our view - as requested - on the topic of DNR..."Do Not Resuscitate". All this from that simple condition, epilepsy, which we thought would be easy to solve.
During this time, we learned about Camille's strength and fighting spirit. These qualities will certainly aid her in the ongoing bout with epilepsy.
The Hardest Worker
Camille continues to battle her epilepsy and the quest for seizure control as well as her other conditions which were diagnosed in the subsequent months (Cerebral Palsy, Dystonia, Cortical Visual Impairment, Feeding Impairment, Immune System deficiency, Reactive Airways, Gastroesophageal Reflux Disease, Apnea) - each of which is serious is in its own right - though at some level overshadowed by the degenerative nature of her epilepsy condition.
To combat her situation, we continue to work closely with Camille’s doctors to find an appropriate treatment. We are fortunate to have outstanding care. In addition to our pediatrician, Camille is being seen by one of the leading pediatric neurologists in the country (at UCLA) and has a team of other doctors monitoring her status. She has undergone dozens of tests, including EEGs, MRIs, PET Scans, spinal taps, metabolic testing, genetic testing and countless blood tests. She currently takes a daily cocktail of many medicines to address her immune system impairment and to control her seizures. To augment her medical treatment, Camille has a rigorous weekly regimen of therapies designed to minimize the impacts of her developmental delays including physical therapy, speech therapy, yoga, occupational therapy, feeding therapy, and vision therapy. Though tracking at the level of a toddler, Camille has made substantial relative strides of late as the impact of her physical, occupational, vision, feeding and other therapies advance her development. Her therapists call her "the hardest worker." We're all so proud of her.
As Camille grows older, the developmental gap becomes more evident vs. typically developing children. This only heightens our urgency to find a solution by redoubling our treatment and therapy efforts and focusing our resources towards finding a cure.