(Skip to symptoms below if you don't want a background) I have lived a rather crummy life from the start. I was born a 10 lbs neonate. From my infant to toddler years, I started to lose weight. My parents took me into the clinic to see if there was anything wrong with me. A doctor looked over me, and maybe did some simple metabolic tests, but he concluded that there was nothing metabolically wrong with me.
I continued to be a skinny child. I was diagnosed with ADHD and took Ritalin throughout most of elementary school. Whenever I played video games as a child, I noticed that my hands were a little shaky especially when I was really excited or stressed. I realized after ingesting Ritalin my hands were more shaky. It wasn't until a first grade lunch in the cafeteria where a classmate of mine noticed my hands were shaking abnormally while I was drinking milk.
In middle school I defied my parents and stopped taking my Ritalin prescription. I started to have really bad anxiety in middle school. I had a hard time doing speeches in front of the class, even though I knew they were all my classmates and I had no reason to be nervous. I also felt that I had developed a hard time properly pronouncing words (5 times repeating a word). I also developed an irregular sleeping pattern in middle school. I was going to bed between 9-10pm and waking up between 3-5am on my own.
I took a personal initiative to apply myself in high school. I was still skinny, had tremors, difficulty learning and pronouncing new words (which made me reluctant to read at first), fairly bad anxiety and now I was noticing that I was having fatigue throughout the day. I would wake up alright, but after a couple hours I was already yawning. I stay tired throughout the day, with periodic episodes of wakefulness.
I became more aware of the symptoms in college and talked to my general physician to seek treatment. The only diagnose she came up with is Essential Tremor and prescribed me propranolol. I took it for at least a month or so, but I wasn't observing any benefit from it. The tremor stayed the same, but I felt the beta blocker was actually making me more tired. I told my doctor about the increasing tiredness and she took me off the medication and referred me to a neurologist. The neurologist gave me the same diagnosis and offered the same treatment at a higher dose of propranolol. I tried it but noticed no benefit, experienced the same side effects and was even more tired. At this point I felt there was no hope and just learnt to deal with my illness.
I decided to independently pursue a better mode of treatment and made it a personal endeavor to find the actual pathophysiology (diagnosis) and proper treatment for my condition. In my free time at college I would do my own research and visit the hospital to run tests in accordance to my theories. The following are my tests and theories to my disease:
-Essential tremor is a poor diagnosis that doesn't help the patient in any way. Beta-Blockers do not treat essential tremor. If anything, they treat the underlying anxiety or a heart issue which can cause an increase in the tremor amplitude.
My tremor is not exclusive to my hands. It's all my limbs, chest, abdomen, head, voice...basically anything that uses muscles. I WOULDN'T compare it to essential tremor. It's almost more like an enhanced physiologic tremor. Stress, psycho-stimulants and physically demanding moments exacerbate tremor. A high level(~5 drinks in an hour) of alcohol consumption slightly alleviates the tremor. My dad and his father reported having tremor.
My symptoms (from most debilitating to least):
-Increased/High Metabolic Rate (Inability to adequately gain and sustain weight)
-Irritable Bowel Syndrome (daily abdominal distress and noises)
-Dysarthria (difficulty pronouncing words)
-Frequent morning headaches (dull pain that fades in an hour upon waking)
-Sometimes, a feeling to urinate frequently
Ceruloplasmin: 30 (23 - 53 mg/dL)
Thyroid Peroxidase Antibody: <10 (<35 IU/mL)
TSH: 1.97 (0.4 - 5.0 mU/L)
Metanephrines, Fract., Free, P
Normetanephrine, Free 0.50 nmol/L (<0.90)
Metanephrine, Free 0.27 nmol/L (<0.50)
Glucose: 84 (60 - 99 mg/dL)
Complete Amino Acid Workup: Normal results, but asparagine was double the highest standard range.
Given the results, I have excluded the following illnesses:
Hyper or hypothyroidism, Wilson's disease and Pheochromocytoma
Based on my research I believe I may have the following:
A faulty beta-carbolines metabolism, causing increased levels of norharmanes in serum. Upon reaching the brain, some beta-carbolines (like harmane) act as benzodiazepine inverse agonist which produces most of the symptoms I have listed. I have yet to empirically prove this.
I am open to suggestions anyone might have for a differential diagnosis, so please feel free to post your thoughts.
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