Infantile spasms: What parents need to know

​"In some cases, silence is dangerous." - Saint Ambrose This well-known saying no doubt has a powerful meaning and in the case of our son, the most dangerous silence was in his suffering. Shortly after being diagnosed with Tuberous Sclerosis Complex (TSC), our 4-month-old son Aiden began to have infantile spasms, an epilepsy disorder often described as catastrophic. At first, I didn't understand why such a harsh descriptive word was used for something that looked so innocent. It made me doubt whether or not it was truly responsible for the issues research claimed, until I witnessed its destruction first hand. Like the approximately 40 percent of children diagnosed with TSC, our son developed infantile spasms a month after the onset of his first seizure. Infantile spasms differ from the seizures he had in that first month.

Instead of having one seizure, he now had several seizures (clusters) that occurred one after another. Classic to this seizure disorder, his clusters were identified by the repetitive body movements that occurred during each repetitive seizure. These movements can be subtle and very hard to detect. Because Aiden was diagnosed with TSC and epilepsy, we were promptly warned to look for these movements that could manifest as head bobbing or a jack-knifing motion of his body. These motions are often mistaken for the startle reflex common in infants, acid reflux or colic. We recognized Aiden’s clusters because his arms flexed out and his head pulled down in a rhythmic motion. His right eye would also water by the end of each cluster. Maybe it was all the research, or maybe just gut instinct, but when we first saw this we promptly made an appointment with his neurologist. We went to the neurologist's office armed with a video we used as evidence of what we believed to be spams. After seeing the video, an electroencephalogram (EEG) was immediately ordered to detect the abnormal patterns consistent with infantile spasms called hypsarrhythmia. He was diagnosed and promptly prescribed Sabril Vigabatrin and placed on a healthy dose of steroids until we received his medication.

This was a very scary time for us. We didn't understand this disorder and each piece of information about it spelled bad news. These silent and rhythmic movements were harmful to his development and it didn't take long for us to notice how the spams were beginning to effect Aiden. Aiden stopped meeting developmental milestones. He wouldn't engage in play, he was physically weak and his language skills were stagnant. We met with the county Head Start Program shortly after his initial diagnosis and got him enrolled at the early intervention program with the County Board of Developmental Disabilities. We planned ahead and were prepared to take on the challenges brought on by this difficult new type of seizure disorder. Aiden was only a few months old, but he was starting his lifelong fight with the epilepsy that threatened much more than the milestones and skills it was robbing from him. After eight years, the fight would lead him to neurosurgery. Eight years of medication changes never achieved the long-term seizure control Aiden needed. As anticipated, the spasms continued, controlled only temporarily, and developed into other seizure types. Infantile spasms were identified as clusters of complex partial seizures as he grew out of infancy, but their effect remained the same. The other seizures that manifested would drop him with no warning and shake him violently, often leaving him paralyzed for up to 20 minutes.

​It affected him physically and he still wasn't meeting many milestones and often regressed with any progress made when the seizure activity increased. His brain was just too bombarded with seizures. Infantile spasms are as dangerous and as aggressive as described. Aiden was only relieved after a three-part neurosurgery he had this summer at Texas Children's Hospital. New methods to treat infantile spasms before they start are seeing positive results, but more work needs to be done, including increased awareness. Here are a few things to know about Infantile Spams:

• Although infantile spasms are rare, approximately 40 percent of children diagnosed with TSC will develop them.
• Infantile spasms are commonly mistaken for other conditions, so it's imperative to record any abnormal movements and report it to your neurologist immediately.
• Seek care with a pediatric neurologist familiar with infantile spams or TSC. Either are more likely to see a higher volume of cases of infantile spasms. Ask questions, take notes and never hesitate to make a phone call to the neurologist's office.
• Seek out early intervention, especially if your child is diagnosed with infantile spams. Early intervention is an excellent way to be proactive about any developmental delays that may occur, as well as helping with any delays when they do occur.
• Do your research. There are a number of excellent resources and people who are willing to help and answer questions.

Infantile spasms proved to be the most challenging aspect of our son's TSC diagnosis. They were also the scariest. Although control for him was finally achieved through neurosurgery, he still has significant developmental and physical delays as a result of his eight-year battle with this rare epilepsy disorder. Early detection and treatment is the best hope at a good outcome for children diagnosed with infantile spams. Together we can break the silence so other children won't spend precious time suffering from infantile spasms.

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