The Medicine of Sleep
Before our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, the telltale sign that something was amiss were the cyclical spells that began at 3 months old and occurred every three days.
We initially thought they were seizures, but later learned they were oculogyric crises (OGCs). An article published in the journal Tremor and Other Hyperkinetic Movements notes that, “Oculogyric crises are defined as spasmodic movements of the eyeballs into a fixed position, usually upwards. These episodes generally last minutes, but can range from seconds to hours.”
We are still mystified about how to stop these dreadful episodes.
Medication
Our doctors prescribed a series of medications. At first, Rylae-Ann experienced horrible side effects, such as sleeping all day and being completely limp, even for an AADC-deficient baby with hypotonia. Even though we methodically planned her medication routine, carefully crushed the pills, slowly dissolved them in water, and ensured every drop flowed successfully into her mouth with the aid of a syringe, nothing worked.
Diet
In combination with medication, we looked at her diet. We sought foods that encouraged dopamine and serotonin production, as OGCs have been linked to decreased levels of these neurotransmitters. We made sure her pureed meals supplied a well-balanced diet. Although she put on weight and remained healthy, the spells persisted.
Supplements
Supplements ensured our daughter received all the necessary vitamins and minerals. This included vitamin B6, which is supposed to aid in maximizing the dopamine Rylae-Ann does have. Maybe it made a difference. We like to believe so, yet the positive side effects weren’t substantial, and the OGCs continued.
We tried multiple approaches to reduce the frequency of Rylae-Ann’s OGCs. (Courtesy of Richard E. Poulin III)
No significant results
Nothing worked, and unfortunately, there is not yet a medicine, diet, or supplement that completely resolves the issue for the majority of people in our AADC community. However, one method did help to space out the spells, so they did not occur so often.
We documented everything, which allowed us to plan our lives around these vicious OGCs. On the days there were no spells, I was determined to take my daughter out and do “family things.” You know, the internet lists of the top 10 things every family must do?
On the days there was a spell, we did a fantastic job of managing it. Thankfully, Rylae’s spells happened around 6 p.m., which meant my wife and I were both home from work. Once we saw the signs approaching, we immediately brought her into a cool, dark room. We would snuggle our faces into her ear, cheek, and neck area. Other children may prefer different spots, but having our faces against her face definitely calmed her down. While in that position, we would put an arm over her chest and softly whisper songs and prayers into her ear. Even just mumbling worked. The soft whispers still work today.
Rylae-Ann and Mom do their snuggle routine to aid in falling asleep. (Courtesy of Richard E. Poulin III)
The goal was to get her to sleep as soon as possible. When she was able to sleep, she would wake up recharged, and it would not happen again until three days later. However, the reduced episode frequency finally happened when I realized that sleep was the medicine. Let me explain.
The medicine of sleep
After Rylae had a spell and slept, I was back out trying to do activities with her that felt important to me as a parent. The activities were considerate of her, but they induced exhaustion. When Rylae was exhausted or tired, the spells would come early or be more intense. Once I realized that I should do a better job of avoiding exhaustion and scheduling sleep for her, the spells became more spaced out. Accomplishing this required a support network that included our family and our nanny, but we all worked together. Sleep was the medicine that finally offered improvement.
I would never think about reducing or skipping a dosage of medication. We should apply the same principles to sleep or exhaustion. We reserved two-hour slots in Rylae’s schedule for her naps. We never interrupted her sleep during those times and were extremely careful that nothing else did, either. That would be similar to not giving a full dose. Bedtimes were earlier, and before sleep, we rested in a dim, cool bedroom reading books. I adjusted activities to better support our daughter. They may not be on a top 10 list, but she enjoyed them, and this change kept her healthy.
Rylae-Ann’s new routine allowed for improved sleep, which helped to reduce the frequency of oculogyric crises. (Courtesy of Richard E. Poulin III)
The power of sleep
The longest gap between spells was seven days — a whole week. That is a 50% reduction in Rylae’s OGCs. On the days an episode was supposed to happen, but didn’t, my wife and I just communicated through eye contact, too scared to speak for fear of jinxing this small blessing.
Serotonin and dopamine play a crucial role in sleep and waking. Thus, because the AADC enzyme is essential for dopamine production, homeostasis and the circadian biological clock may be different for our AADC-deficient children. It’s important we reevaluate the length of their activities and the amount of sleep they need.
We can easily compare this feeling with how most of us feel when we don’t get enough sleep and are exhausted the following day. The effects of sleep deprivation can cause a decrease in performance, unstable moods, and clouded thinking. It’s likely that these effects are more pronounced in people with AADC deficiency.
Developing and supporting that sleep schedule is similar to the process of administering medicine. It takes some experimenting and is combined with attention to diet, medication, supplements, and all the requirements of living with AADC. More importantly, it’s how we can improve their sleep-wake experiences. Creating the right balance will result in optimal sleeping and waking periods.
For us, adjusting Rylae’s sleep routine was the “medicine” that reduced her oculogyric crises. It takes time and consistency, as AADC-deficient children are prone to sleep disturbances, but if you’re facing this challenge, keep going. You’re doing great!
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Note: AADC News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of AADC News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to aromatic l-amino acid decarboxylase deficiency.
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