Neurological decompensation. There's more to the story.
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It’s Friday, August 9th, and my wife and I were set to drive to Santa Barbara for a friend’s wedding. The months leading up to the wedding have been incredibly stressful. Not because of the wedding but because I wasn’t sure how our daughter would get the nutrition and supplementation she needed.
Trying to figure this out was essentially a part-time job. I spent 20 hours a week and thousands of dollars creating various formulations. Because of the dosage and number of supplements, we give them 3x daily. It took a long time to find the right combination. But after a couple of months of our kitchen looking like a compound pharmacy, I finally figured it out.
I prepped supplements for Friday and Saturday and figured we could give the next dose on Sunday when we returned in the afternoon. She enjoyed her time with the family, and there were no signs that anything was wrong.
However, when we picked her up on Sunday, I noticed her personality was different. At first, I assumed it was because she was upset that we were gone for a few days. But as the day progressed, I noticed neurological symptoms we had previously resolved.
I first noticed oromandibular dystonia (lateral movement of her jaw). This used to be a common occurrence before bedtime that would result in bruxism. This was followed by a paroxysmal upward gaze, an ataxic gait, slowing of her gross motor movements, and neurogenic stuttering (longer-than-normal pauses between words and word prolongation). These symptoms were previously seen; however, they had resolved after we continued fine-tuning her supplementation.
The paroxysmal upward gaze would commonly accompany the lateral jaw movement before bed. At first, we were told this was Bell’s phenomenon. However, I now believe this is a form of dystonia (jaw and eye would fall under oral facial dystonia). It could be an oculogyric crisis or paroxysmal tonic upgaze; regardless of what we call it, I feel the terminology is nothing more than semantics, as the etiology for each is multifactorial.
She was irritable for the rest of the day until she fell asleep at 11 p.m. She could only sleep 5 hours and was awake by 4 a.m. on Monday. When she woke up, she continued to be irritable and had slight neurological symptoms throughout the day. But, by the end of the day, her mood began to stabilize, and her neurological symptoms had almost entirely resolved.
She slept all night and continued to improve over the next few days. However, she had one episode of oral facial dystonia (eye movement) Wednesday night and one episode of oral facial dystonia (jaw movement) Thursday morning (at the time of this writing).
It's remarkable how quickly she went from asymptomatic to neurological decompensation, so it seemed. Neurological changes are difficult for a parent because they are visible. At first, I couldn’t figure out how someone’s neurometabolic status could change so quickly. This was partly because I made the same mistake most clinicians make and looked for a singular cause. Instead, what if her symptoms were multifactorial and compounded over time? What if this didn’t happen all that quickly? So, I zoomed out and began to recap the events leading up to Sunday.
One week before leaving, we went to a friend’s birthday party. It was hosted at their house, where they have two dogs. Unfortunately, our daughter is allergic to dogs' saliva. While at the party, she kept grabbing the dog toys, eating, and rubbing her eyes. Towards the end of the day, her eyes were puffy and irritated, and she had scattered rashes on her body, cough, rhinorrhea, and nasal congestion. The following morning, we saw dried blood in her nostrils; we hadn’t had nose bleeds since February 2024. Then, for the next few days, she had some fatigue and an increase in bruising.
Being around the dogs stimulated an immune response and created inflammation throughout her body. This was the first event that stressed her body and began to increase her requirement for various nutrients. The dried blood inside her nostrils made breathing difficult and subsequently affected her sleep quality. A decrease in sleep quality hinders the recovery process.
Then, she had an accident on Wednesday and fell off the bed. This resulted in swelling and bruising of her forehead. Because of her thrombocytopenia, we watched her closely. She seemed to be doing well (neurologically intact, no vomiting, etc.), so we opted not to get a CT scan. The next day, we noticed slight bruising around her eyes (raccoon eyes). This was either blood pooling from her forehead or a sign of something more serious. She was otherwise doing well and had no symptoms of anything more severe. Still, because of her thrombocytopenia, we decided it was best to ensure nothing else was going on, especially since we would be leaving the following day. So, we went to the emergency department for a head CT, which was negative.
Head trauma results in inflammation and an immune response to facilitate healing. Although the specifics aren’t fully understood, it’s possible the radiation from the head CT could have led to cellular damage, further contributing to the total burden of stress.
Friday finally came, and the wife and I were on our way to Santa Barbara while our daughter stayed with family. The family decided to have a pool day to keep her busy while we were gone. It was a warm day, which comes with its challenges. Usually, we sweat when our body temperature increases. Our body uses the heat as an energy source to evaporate sweat, resulting in the cooling of our body temperature.
Unfortunately, being in a pool for prolonged periods disrupts the body’s natural ability to regulate heat. A warm day and direct sunlight will increase the body temperature. When our body is surrounded by water, it can’t use the heat as efficiently, so the sweat doesn’t evaporate. If it doesn’t evaporate, then the heat doesn’t dissipate. So, instead of cooling down, we continue heating up.
Children (especially those under two) are disadvantaged, as they rely more on dry heat dissipation than evaporative cooling (bodies can’t sweat as efficiently). After the age of two, children begin to sweat more. However, sweating depends on a functioning sympathetic nervous system and adequate acetylcholine levels. I believe our daughter has decreased acetylcholine levels, as evidenced by:
Her methylation SNPs increase choline requirements to help compensate for the inadequate folate and B12 levels.
Her ACAT SNP increases the conversion of acetyl CoA to acetoacetyl CoA, resulting in lower acetyl CoA levels and, subsequently, less acetylcholine. Every organic acids test has shown an elevated acetoacetate, which allows me to infer this conversion is inappropriately taking place.
All these factors increase the risk of dehydration and possible heat exhaustion, which further adds stress to her already stressed body. While at the pool, she consumed fewer calories and liquids, further hindering her ability to recover from previous events. Then, on Saturday, she couldn’t nap and didn’t take her total supplement dose; she most likely even needed an increase in her dosage from baseline.
These events occurred in addition to her existing mitochondrial mutation and other alterations related to nutrigenomics that I recently discovered (I’ll discuss this in more detail in my next post).
As you can see, there was more to the story than I initially thought. At first, it appeared as if her decompensation occurred overnight. But in reality, this resulted from multiple events compounding over ten days. This is an excellent example of how intricate human disease and health are. We must get out of the mindset that disease results from one thing; nothing could be further from the truth.
I realized that reaching this conclusion wasn't a quick process; it required a day of focused reflection on past events to connect the dots. Recognizing the effort that went into constructing what seemed like a simple story made me aware of the many patient stories that likely go unnoticed every day. It seems unrealistic to arrive at such a conclusion within 15 minutes based on just one conversation between a distracted clinician and a symptomatic patient.
I wouldn't have dedicated this much time to analyzing the problem for anyone other than my daughter. As her biggest advocate, if not me, then who? It's unrealistic and unfair to expect any clinician to invest this level of thought into every case, week after week.
It’s also interesting to think this experience is only a ten-day sliver of a 2.5-year journey. How many situations like this have gone unrecognized throughout the years that would ultimately contribute to her current overall well-being? It is impossible to know as I was never trained to think this way and, because of that, never did. But I am now much more cognizant of how interconnected everything truly is.
I'm aware that many of you have family members with complex health situations that lack straightforward answers. Therefore, you must also realize that expecting any clinician other than yourself to devote the necessary time to provide the answers you need would be unreasonable and unrealistic.
No one will—or should—care more than you do.