Kaleb, our second son, was born full-term in 2012 via a fast and natural delivery, with solid 8/9 APGAR scores and no complications. He weighed almost 8.5 lbs and was 21.5″ long.
He developed on track for the first 5 months of his life, nursed extremely well, and was very healthy (never even got sick). But he also was a colicky baby and often fussed in the evenings in the early months.
Around 5 months old, he stopped rolling over on his own. We thought maybe he was just tired of it. After all, we had seen him do it many times before. We also noticed that he sucked his right thumb more, but he still used his left hand freely and would still suck his left thumb at times.
During Labor Day weekend, one night at around 8pm, he dropped his head abruptly about 3 times in a row, crying in between each time. My husband wondered out loud, “Is that a seizure?” But Kaleb would just burp and stop. Whew, we were relieved as it seemed like he just had some painful gas (hence the burping). Nothing too concerning, right?
The next night, it happened again. And the next. Something didn’t feel right. I consulted Dr. Google. After some research, I found Infantile Spasms (IS)–catastrophic childhood epilepsy, 90% severe cognitive disability, 31% fatality in one study of 214 IS kids. But that’s a rare, worst-case scenario–it can’t happen to us, right?
We woke up early next morning, called a pediatric neurologist and surprisingly managed to get an appointment later that morning the same day (due to a cancellation) despite a 6-week standard backlog for seeing new patients. His checkup yielded little. The neurologist was just sending us on our way, telling us that Kaleb looked great and that he would arrange an EEG for Kaleb the following week as a precaution, when Kaleb went into his first ever full seizure. This was Kaleb’s way of getting the doctor’s full attention and a corresponding heightened sense of urgency.
We were hospitalized in 20 minutes. What started as a 30-minute neurologist appointment to relieve our worst fears turned into a week-long hospital stay. He had an EEG that afternoon. The results came back with modified hypsarrhythmia. Kaleb was diagnosed with Infantile Spasms and our world changed forever.
He was sedated for a brain MRI the next day. The results came back with PVL. Later, we found that he also has a thin corpus callosum and evidence of old bleeding, suggesting a possible hemorrhagic stroke in utero.
Within a few days, while in the hospital, we noticed his left arm starting to fist up, turning in, and clamping towards his body. Then we noticed his left toes curling too, his hamstrings stiff. Within a week, he was diagnosed with hemiplegic cerebral palsy. He holds his breath a lot, but not long enough to threaten his oxygen intake. He was later also diagnosed with pectus excavatum. He receives physical therapy, occupational therapy, and aquatic therapy weekly and attends Early Start (special education) school weekly. He also receives early intervention services every other week and speech therapy twice a month (soon to be weekly). His therapy devices include SMOs, abdominal binder, thumb brace, and TheraTogs.
After an initial round of high-dose ACTH (steroids) in September 2012 that stopped the spasms but didn’t eradicate the hypsarrhythmia, we weaned ACTH and switch to Sabril/Vigabatrin, which eventually stopped both the spasms and cleared up his EEG. In fact, it made his EEG completely normal since October 2012. He was seizure-free for 8 months until June 6, 2013 11pm, when he had a focal seizure for about a minute after a bout of Roseola, receiving a Hepatitis A vaccination, and napping only 20 minutes total that day. But since then, his 1-hr EEG has been normal and as of July 20, 2013, he was completely weaned from Sabril/Vigabatrin. He is currently medication-free and progressing beyond our wildest dreams.
And this is Kaleb’s Story, last updated September 2013.
(The Original Kaleb’s Story)
Our 5.5 month old, Kaleb, began having seizures at the end of Labor Day weekend. His diagnosis is Infantile Spasms. This is one of the worst forms of epilepsy possible for a child his age.
He showed no previous signs of developmental problems and was babbling at just a couple weeks old. He had also been rolling over, smiling, keeping good eye contact, and was developmentally on track.
We became suspicious of a cluster of sudden head drops that started on Sunday. On Wednesday, we managed to get a morning appointment with a neurologist who has a 6-week standard backlog for seeing new patients. His checkup yielded little. The neurologist was just sending us on our way, telling us that Kaleb appeared developmentally fine, and that he would arrange an EEG for Kaleb the following week as a precaution, when Kaleb went into his first ever full seizure. This was Kaleb’s way of getting the doctor’s full attention and a corresponding heightened sense of urgency.
Kaleb was admitted to the hospital twenty minutes later, he underwent an EEG that afternoon, and at 8AM the next morning, he was sedated for an MRI.
His prognosis from the EEG results was quite bad, being that Infantile Spasms statistically has generally very poor outcomes in terms of development, retardation and lifelong epilepsy. The MRI results identified latent brain damage (consistent with periventricular leukomalacia, probably from oxygen deprivation, or an infection, from when he was in utero). This changed the prognosis to basically an unknown.
We have confidence that Kaleb will pull through. He’s a tough little baby. His brain has obviously been adapting to these challenges very quickly in order to mask any symptoms that otherwise would have been noticed. We have spend pretty much every waking/available moment reading articles and researching studies on IS. We’ll be in the hospital over the weekend, possibly longer, moving on with next steps. Things would really be impossible right now without the support of our families.
Our neurologist has been quite good. He’s a pediatric neurology specialist and we’re certain that without his efforts, our diagnosis would’ve been delayed significantly. He made the EEG and MRI both top priority for the hospital.
We’ve taken the initiative on medication. We spent most of Friday shepherding paperwork to obtain ACTH (sold as H.P. Acthar Gel). It was a whole lot of work, but in the end, it looks like we’re getting it done much faster than going through the hospital or doctor’s office. Instead, we’re calling and visiting offices to make sure the doctor’s office, the pharmacy, the hospital, the health insurance company, and Questcor’s Acthar Support Group (from the manufacturer, which pretty much regulates its usage) are all communicating their various pieces. It kept us quite busy all day. This is all because the price of this medicine has gone from a couple thousand dollars for the full treatment, to $30,000 per 5ml vial over the last five years. Insurance covers a large portion of it. At the end of the day, with only five minutes to spare, it was shipping here overnight and should have been here yesterday (9/8). Usually the lag time is several days to a week through a doctors’ office for this extremely rare medication.
Kaleb would be on ACTH right now if it weren’t for a broken airplane.
We contacted Lucile Packard, UCSF, and Oakland Children’s, and nobody in the area keeps ACTH in stock.
Please keep us in your thoughts and/or prayers as we hope for the best possible outcome for Kaleb: high efficacy of the ACTH medication, least possible side effects, protection against infections, and complete or high reduction of seizures after he is finally weaned from the medication (as a strong steroid, he cannot stay on it for too long). We’re hoping that aggressive early treatment will give him the best possible prognosis for the future.
The Original Kaleb’s Story was initially sent as an email to our family and friends on September 9, 2012.