The day after Aiden was diagnosed with Sandhoff, he experienced his first seizure. His seizures were nothing like we had imagined. We had pictured seizures as rigid bodies twitching uncontrollably. Instead, Aiden goes completely limp, stares blankly into space, and holds his breath. We knew, if only very briefly, that seizures were a likely symptom of his disease. We just were not quite prepared for them to happen so quickly after diagnosis.
Treating Aiden’s seizures required a combination of luck, patience, and careful experimentation. Our greatest challenge has been managing his oxygen levels, which drop significantly during seizures, as seen on the pulse oximeter, falling anywhere from the high eighties down to the thirties.
This situation compelled us to obtain a pulse oximeter for home use, along with oxygen tanks to assist his recovery after seizures. We can often sense a seizure is imminent before the monitors alert us, so we administer oxygen until he resumes normal breathing. After a seizure, he typically becomes very drowsy, which appears to be when his seizure clusters tend to begin.
Aiden experiences his worst seizure clusters primarily when trying to fall asleep. According to the EEG, he reaches a very light sleep stage, during which his brain misfires and triggers a seizure. In the beginning, this could occur anywhere from three to six times per hour. There seemed to be a temporary relief after the loading doses he received at the hospital. We weren’t sure if the improvement was due to the IV injection versus the G-tube administration, but he would have a good day in the hospital, then we would go home. Afterward, he would have two to three seizure-free days at home before returning to the hospital to determine why the clusters had started again.
We are transitioning Aiden to a Keto diet. While this approach carries some risks, including the possibility of increased seizures, there is a strong potential for it to significantly reduce their frequency and make them more manageable.
Aiden has had a great response to the ketogenic diet (Keto Vie). We first noticed that he was able to keep his seizures localized to his face, usually lips, instead of desatting with every seizure. Our next step is to measure his med levels and give Epidiolex a try. We have heard many success stories across a few support groups. We are hopeful it gets Aiden on lower doses of his seizure medicines so that he may be more alert throughout the day.