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The Story of Rosemary and Infantile Spasms

Rosemary and Infantile Spasms

Authors Jessica Lee and Beth Zupec-Kania

This blog has two parts. First, the story of young Rosemary, written by her mother Jessica Lee. Rosemary was diagnosed with infantile spasms, a rare form of epilepsy. Her picture as an infant was taken in the hospital while undergoing an electroencephalogram (EEG) to measure seizure activity. The story starts out sad but has a good ending. After you experience that relief, you will want to read on about infantile spasms and how it’s being medically treated. The truly sad part of  infantile spasms is, if it’s not treated adequately, and, early in life, there can be a life-long sentence of uncontrolled epilepsy.

Rosemary’s story

There are moments in our lives that we will vividly remember, crystal clear, no matter our age at the time or the time elapsed since. For some of us it is a social event like a wedding, world events such as 9/11, or personal achievements such as hiking Mt Kilimanjaro.  For me one of those moments is the day I knew my daughter had infantile spasms (referred to as IS).  She had been doing these small “jerks” around nap times that seemed to be getting worse. To his credit, my husband made the diagnosis from watching YouTube videos the day before we saw the neurologist. We lay in bed that night, knowing, holding each other. It was quiet but tears flowed slow and steady. If you google “infantile spasms” the most often cited piece of medical literature is a study with depressing statistics that would make anyone feel hopeless. The possibilities or lack of possibilities swirled, clouding my mind until I couldn’t even imagine the future. Would she ever smile, laugh, say “ma-ma”, walk, dance…?

We were quickly admitted to the hospital the next day and an overnight EEG confirmed what we already knew (IS with modified hypsarrhythmia). At that time at our institution, ACTH was the first line medication and we were trained to perform how to inject it into her and then we were sent home. The ACTH injections initially worked. And then they didn’t.  We tried another round of inections but again the spasms returned. Antiepileptic drugs were started but seemed to make the spasms worse. It was unimaginable that these medications were not controlling her spasms. As a physician, I have been taught to believe in evidence based medicine but the best evidence was not applying itself to my daughter’s situation. Quoting statistics takes on an entirely new meaning when you are the exception, the “1” in the ratio.

After consulting our medical team, the next decision was to start the ketogenic diet during a hospital admission. By now she was 8 months old. I cut the “footies” out of her pajamas so she wouldn’t have to be undressed and awakened for glucose heel sticks at night. I questioned the dietitian about food options for a now eight month old and voiced my (now naive) concern over artificial sweeteners.  By this time, I had read many scholarly articles but couldn’t find an exact mechanism of action for the reason this diet was supposed to work, so I have to admit, I was skeptical. BUT…within days we saw a significant decrease in the number of spasms and about a month later she had her last spasm. Her LAST ONE. Feeding her a (strict) high fat diet had done what medications failed to do. How was that even possible?

We kicked into gear. We learned how the calculations for meals worked and starting planning our own meals (with approval from our dietitian). I took some time off after I graduated from medical school residency and spent hours each week prepping meals by steaming vegetables, blending them into purees and freezing them in small portion sizes. Her first birthday cake was a mini two tier chocolate cake made with KetoCal and cocoa powder-I was pretty impressed, she was not. All the while her spasms stayed away. More importantly, she was smiling, then laughing, then saying “ma-ma” … All of the things I had been scared to imagine were becoming a reality.  She remained on the diet at a classic 4:1 ratio for a little over a year and then came the true test. The electroencephalogram (EEG). We watched Finding Nemo and napped while the wires sent possibly the most precious and important information to be deciphered by our neurologist. About a week later the call came…her EEG had normalized! Again the tears flowed freely but this time they were tears of joy.

Today, our daughter is back on a traditional diet but I will never forget the months of measuring to the tenth of a gram or traveling with our scale and a jar of coconut oil in the diaper bag. Although we don’t fully understand how this diet changes the brain’s metabolism in such a miraculous way, it has given us the gift of our daughter and allowed us to imagine the possibilities for her life.

What is Infantile Spasms? Infantile spasms (IS) is rare form of epilepsy diagnosed affecting about 2000 babies and young children each year in the US. The spasms are a type of seizure that is only seen in this age group. This condition is “catastrophic” and can lead to severe life-long health problems if not treated properly. Between 25-50% of children who are diagnosed with IS  don’t respond to current medications.

What medications are used to treat IS?  In 2004, a “work study group” comprised of neurologists published their consensus of what treatments were best for IS. They concluded that Adrenocorticotropic Hormone (ACTH) and vigabatrim were the only drugs with proven efficacy to suppress clinical spasms and abolish the unique brain activity (called hypsarrhythmic EEG) in a randomized clinical trial setting and thus remain first-line treatments. I’ll describe these two medications separately as each has its own concerns:

ACTH has an effectiveness rate in treating IS in 50% of cases, however, about half of these children have a return in their seizures after the treatment ends. In addition, significant adverse effects can occur during ACTH treatment.In a study published in 1980, 37% of the 137 children with IS that were treated with ACTH had “pronounced side effects, and the mortality was 4.9%”(1). The study reported the most common complications were infections: septic infections, pneumonias, and urinary and gastrointestinal infections. The other concern about this drug is cost of treatment which has increased in recent years from $50 to $27,000, costing around $250,000 to treat one child. If that’s not enough to make your stomach turn, Questcor (now owned by Mallinckrodt), the pharmaceutical company that makes ACTH blocked a competitor company from producing it by buying out the company. There’s more, an investigative report published in June of 2018 has revealed that frequent prescribers of ACTH are receiving payments from Mallinckrodt – these are physicians, and, I was shocked to read that many are neurologists. You can access the full article online (3).

The second medication that is issued to treat Infantile spasms is Vigabatrim. This medication also has significant adverse effects,  the most feared complication is immune suppression with infection, which can sometimes lead to death. Vigabatrin can also cause blindness.

Are there treatments other than standard medications? I’ve been involved in caring for young babies and children diagnosed with IS. Aside from the poor prognosis, the stress on parents in seeing their young child suffer with this condition is beyond dire not to mention the drug options described above. First, these children are at high risk for continued seizures and poor development, second, the options for treating them carry significant health risks, including death. It begs the question of what could possibly be less risky to consider. Ketogenic diet therapy has been used to treat IS in cases where neither medication has been effective. In 2018 a review of 13 observational studies was published in Neurology and Neuroscience Reports(2). The results showed an average improvement of 50% or greater seizure control in 65% of children with more than 1/3rd who became spasm-free. Knowing the high rate of drug-failure in this diagnosis, the option of ketogenic diet therapy should be available as soon as it is determined that drug response is poor.

Why isn’t the ketogenic diet used before trying a medication? A few progressive neurologists are offering ketogenic diet therapy first to parents of children with infantile spasms before trying drug therapy. These practitioners have had the experience of seeing recovery without the adverse effects of medications. It is fair to say that the ketogenic diet has its own adverse effects although these can be avoided or treated by experienced practitioners. Infants are programmed for high-fat diets owing to the high-fat content of breast milk which runs between 50-60%. Introducing ketogenic solids to infants is also a little more work than providing a regular diet. The diet us used for 1-3 years after which a regular diet is resumed. Recent guidelines have been developed by a group of physicians and nutritionists who identify safe methods for initiating and managing young children with IS on ketogenic therapies (4).

Rosemary at age 4

1. Riikonen R, Donner M. ACTH therapy in infantile spasms: side effects. Archives of Disease in Childhood, 1980:55, 664-672.
2. Kelley SA, Kelly GK.Infantile Spasms—Have We Made Progress? Current Neurology and Neuroscience Reports, 2018:1007/s11910-018-0832-8,18,5.
3. Hartung DM, Johnston E, Cohen DM, et.al. Industry Payments to Physician Specialists Who Prescribe Repository Corticotropin. JAMA Network Open. 2018;1(2):e180482.
4. Van der Louw E, Van den Hurk D, Neal E, et al.Ketogenic Diet guidelines for infants with refractory epilepsy. Eur L Paediatr Neurol.2016 Nov;20(6):798-809. doi: 10.1016/j.ejpn.2016.07.009.

Other Articles by Beth Zupec-Kania