I've been given this case to solve in an attempt to understand the topic of "patient clinical data analysis" to develop my competency in reading and comprehending clinical data including history, clinical findings, investigations and come up with a diagnosis and treatment plan.
Presented by : G.Preethi Rollno : 51
Following is my analysis of this patient's problem:
The problems in order of priority I found are
1) multiple health issues since Birth - jaundice,vomitings, insomnia, excessive hair growth all over the body,Chronic UTI
Kidney infections
Strep throat (doctor diagnosed)
Lung infections
Multiple sprained ankles and knees.
2)Severe headaches (since age 2). Became worse with menses(at 14) and while on BC (birth control - nuva ring) at age 32 caused migraine with aura. Seen for concerns of brain tumor- no scan done was told bloodwork looked great so no need.
Potential sensory disorder-clothes felt unbearably uncomfortable- physical contact also made me uncomfortable-much worse as a child. Have higher pain tolerance, feel painful but can not focus on pain even now. Also mostly happens to feel focus on one thing above all else and get locked in on same.
Also severe mood disorder present since childhood worsened as headaches got worse - used to get extremely angry and fighting if anyone tried to force feed.
Would suddenly snap (flip out / temper tantrum) for no reason- I still feel the buildup to this state of irrational anxiety/ anger/ fear and have learned to take time out or isolate myself to calm down usually precedes a swelling event or migraine.
3) 18 year age- got married after dropping out school and travelling across europe.
21 year age- ectopic pregnancy. Fearful of docs after past experience and had to pass out before being rushed for surgery. Woke up during surgery and have memory of choking on my tube and trying to talk and the feeling of not being able to breath
(grandmother also has history of waking during surgery) severely tipped uterus found.
After surgery, scar revision/wound debridement- again awoke during surgery.
22 year age- chronic abdominal pain around periods. CT showed multiple ovarian cysts- diagnosed. PCOS.
23 year age- I was hospitalized for 2 weeks for severe (worst ever) kidney infection and pneumonia at the same time. That was after attempting and completing a 100 mile bike of the west highland way.
Type aB melanoma and 4 precancerous tissues removed seen while in hospital.
24 year age- worsening migraines, ovarian cysts and pain but bearable.
4)30 year age- broke leg while dancing- just snapped and I collapsed.
32 year age- Severe reaction to antimalarials- was in remote Ethiopia (was NGO trip and then stayed longer to explore and visit friends.), felt like I was dying but in the middle of nowhere. Diarrhoea vomiting swelling and brain felt like a slug- useless and thinking hard, sleeping a lot or passed out. At the time and took 2 weeks to recover to a base level of functioning. Later that year got swine flu (H1N1 active) and pneumonia- was vaccinated for pneumonia with both types of vaccinations over 2 doses.
35 year age- after “failed” LASIK for my poor vision (the doc almost refused to do the surgery my vision was only mildly off) diagnosed dyslexic (only street signs or words were ever an issue). Know it failed because when opening my eyes the next day and still was not able to see words clearly.
35 year age- Diagnosed adhd/autism spectrum by therapist and psychiatrist.
Scans and labs again all normal no diagnosis. Searched online and looked at research and thought potential hemiplegic migraine was at play. Had a dose of triptans (magic mushrooms my friend had) and felt better the next day) High post meal cortisol in testing.
Aura description - It always starts as a small Flicker in the upper left and then eventually becomes a crescent that covers the entire center of my vision. Lots of rainbow colors and movement. In the last year had some instances where it was from the led tand a line or circle that was solid and black.
In teen age i was told of anaemia, but didn’t knew it being hemolytic unless got genetic test last year having G6PD deficiency and AMPD1 Deficiency.
Current issues- frequent falls to the left. Left foot started giving out as well as hand. one fall down stairs sprained and broke ankle (last year) X-ray below. Still require large amounts of salt to not feel sick (more salt needed when feeling sick) Ingest about 2-4 Tbs a day. Poor stress response. Swelling/ hair loss (head and eyelashes) Fatigue. Left jaw pain up into face. Breathing is always struggle for me.
intolerance from most foods, smoke. I never sweat generally sick or not sick. Swelling from emotional stress, eating the wrong thing, exercise, smoke. Weakness whenever having exertion. Always crave salt and fats, I get swollen I have to take time off work and then rest and after 1-2 weeks feel better- sometimes if I can’t rest keep getting sicker and sicker. Always less urination which increase when i am fasting. Sleep was bad with 2-4 hours with nearly no REM sleep, but improved since taking L-Serine 20 gm at night, Ribose 2 gm every hour in water, if any major exercise or exertion then 2 gm before that, 400 mg Cimetidine is helping to reduce swelling which also helping in reducing decreasing androgens and 600 mg NAC to increase glutathione antioxidants. Iron folate 500% of rda.
Genetics
Seattle type G6PD deficiency
AMPD1 - AMPD1 deficiency heterozygous
MTHFR - homozygous for C677T of MTHFR = 10-20% efficiency in processing folic acid = high homocysteine, low B12 and folate levels
WNK1 mutation
HLA-DRA - 3x higher risk for developing a peanut allergy In populations of European ancestry
VWF - association with Von Willebrand disease type 1
DIO2 - 1.3-1.79x risk of osteoarthritis, 3.75x bipolar, etc.
CHRNA5 - higher risk for nicotine dependence, lower risk for cocaine dependence
ANKK1 - Tardive Diskinesia risk, higher ADHD risk. More Alcohol Dependence. Lower risk of Postoperative Nausea. Increased obesity.
TG - 1.3x to 11.5x Increased risk of autoimmune thyroid disorder
Treatment received till now:
Pharmacological
1- Ribose - tried
2- L serine - tried
3- cutting oxidative stress - tried
4- nicotine - tried and heleped and harmed, may be other route and other dose.
5- nad+ - not tried
6- vitamin B complex - tried helped and got sick from too much of Bs
7- antioxidant vitanins - tried (helped?)
8- fructose+antioxdants - tried & helped (apple always)
9) salt + butter - tried & helped
10) keto diet - tried and helped
11) iron folate supplemets - tried and helping
12) antioxidants supplements - not tried as meds
13) antioxidant supplement pyc nogenol - tried and helped
14) D- mannose and glucosamine sulfate - tried and no effect
15) amino acids - helped initially and then felt sick
16) baby aspirin - got really sick
17) ashwagandha - got really really sick
18) sulfur - got sick
19) cimetidine for swelling - tried and helped
20) NAC - tried and helped.
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