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.