This is a de-identified open-online-patient-record with initial information in patient's voice, posted here after collecting informed patient consent (form downloadable
here) by BMJ Elective Student.
1- History
2- Records
3- More History of problems, treatment and possibility from conversation
4- Self tried, Patient own Goals, Possibility
42 F with severe regular edema with G6PD (Seattle variant) & AMPD1 deficiency
As told by mother to patient, and then patient described,
Birth - 1 year
When i was born I had,
Severe Jaundice.
Tongue tie and upper lip tie. (cut by surgery at age 13 or 14)
Large upper tori.
Did not sleep. (very less, 2-4 hours only once in a day and sometimes twice)
Screamed constantly.
I Vomited anything aside water and very salty broth (tried breast milk and multiple kinds of formula but no benefit) Would swell up severely- particularly in face/head and abdomen. Would zone out- mother called this googoo eyes- one of the few times I was quiet and would be fairly zoned out staring into space- this can still happen- I now feel an overwhelming tiredness or just like my brain completely stops working but am aware and can force myself to do things but it is a great struggle- like being in a heavy fog.
Sleep was never more than 2-4 hours at a time. Poor parents accused of abuse as weight would fluctuate- granny then got custody.
2 Year
Was non verbal- no babbling and then at 1 1/2 years began speaking in full sentences in two languages. Began writing in a languages at the age of two 1/2.
3 Year
Began shaving. Excessive hair growth on face/neck/toes/ and legs.
Still only sleeping 2-3 hours.
Still ate almost nothing without getting sick but was not forced to eat by granny and ate only when I wanted.
Smaller than most of my larger family but still within norms for height if not weight.
As told by patient, from own memory.
4 Years - Present
I suffered
Chronic UTI
Kidney infections
Strep throat (doctor diagnosed)
Lung infections
Multiple sprained ankles and knees.
(hospitalized 3 times for above issues as a kid and once as an adult later).
Since being vaccinated for pneumonia at age 28 no hospitalization for lung issues.
Severe reaction to sulfa drugs (Given as infant, mother said).
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.
Does not seem tied to stress- can wake up at night with a raise in heart rate (not outside norms- but a jump) with the same symptoms as when it happens awake.
Migraines entire life- interfered with school life and still have them.
12 years age - got diagnosed for cervical degeneration and scoliosis seen on x-rays for lung infection
15 year age - my headache severity increased to the point unable to get out of bed- forced to go to school. Attempted suicide. Put in managed care- having very difficult situations. Diagnosed there with anorexia for refusing to eat. Tied down and tube fed nasally (would rip the tube out- food causes me extreme pain and increases anxiety states). Vomited and nearly choked.
Was sent home, cured after gaining nearly 25 lbs in 2 weeks- all abdominal and face weight.
Took 6 months to recover from this physically and emotionally. (Therapy sessions told me I was normal).
I forced myself to eat 3 meals a day no matter what, when around people after my experience for fear of going back and began to gain weight.
Was about 95 lbs at 5ΚΌ4 inches and would balloon up. Would hide school meals or fast in secret and would lose edema/weight.
Weight continued to fluctuate within 2 days fasting can lose 10-15lbs at times.
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.
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.
34 year age- Migraines increased. Left hand began going numb and left face felt like someone was pouring ice water over my cheek. Awoke one night to feeling like I was falling and spinning
(unbearable feeling of spinning)when I turned left. For 2 week this continued anytime I turned left. Doc was booked up for 2 weeks and by that time felt somewhat better.
Headaches increased and aura intensified to the point of not just colors obscuring vision, but full getting out of vision. This happened on and off. About a month later after my first spinning event- had the worst headache ever and lost vision- began stuttering. Lost vision duration can’t remember, less than 2 hours- that’s how long I get my vision loss from migraine with aura but that’s colorful and sparkly.
Subsided the next day but while driving to the store I go to nearly daily to shop had to pull over as I did not know where I was. Stuttering/ inability to speak returned.
Went to er and scans and blood work looked fine aside poor liver function and mild Hemolysis and was sent home with a referral to an endo as believed to be metabolic issue by resident ER doc.
This stuttering and memory loss as well as loss of function of left side (intermittently dropping things and severe cramping only in left arm) would come and go for a moths. One day felt very bad and suddenly could not move left side of face and was having trouble walking. By the time we made it to the ER had some motion back. Heard a loud POP in my head and a pressure between my neck and behind my left eye somewhere and after when I bent over fluid ran out my left nostril for approx 10 minutes. Headache mostly in left.
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.
I can be slim stomach in the morning and look pregnant by noon. Food impacts but stress as well. After I was once driving through a wild the fire I swelled up severely.
Diet
an apple once a day since many years.
Always been picky
Now days 5% carbohydrates in diet, 95% other. I love carbs, (cake, ice cream) but also i swell badly.
Have tried many type of diets.
Had been sick when followed dietician a year back
Tough to find real unprocessed food at my place but i try best to have that.
Olive oil - 1/2 cup daily approx.
Family
Mother and Dad were on spectrum i think, but not diagnosed/treated.
Mother was diagnosed for fibromyalgia.
Father had heart attack in 40s.
Grand father had early death.
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 disease
LOXL1 LOXL1-AS1 - common but 10x higher glaucoma risk in most (but not all) populations
PNPLA3 - increased liver fat, odds of alcoholic liver disease
BACE1 - 2x increased ALZ risk in ApoE4 carriers
BSN - 1.1x risk Crohn's Disease
Increased risk for Alzheimers, ADHD, Autoimmune thyroid & other autoimmune disorders, lung cancer, cluster headache, Obesity, raised ICP, Diabetes, RA, Bipolar disorders, Lung cancer and issues,
Heart Rate from a recent normal day
Normal
On 1st day L-Serine
Edema changes within a week
1 week apart
1 week apart
1 Day apart
1 week apart
Infant (frontal bossing showing high ICP?)
MRI CT Spine
Fracture (Broke other ankle again last June after falling. Was put in walking boot.)
Rashes on Face (Usually 2-4 times a year. Past 6 months have not had one.) Usually come with other issues and at the same time my warts and EBV reactivate. Thinking Cimetidine might be helping, Which leads me to believe not autoimmune mediated, Cimetidine would make that worse as it boosts immune function.
How you know its EBV in your case? Coz cemetidine helped?
When I am sick and getting labs it shows up. When I am healthy getting labs no EBV active
Blood bruise from broken leg. Because of my pain tolerance said it was not that bad- took 2 weeks to get mri to show tendon ripped off bone. No operation on leg- they said they wanted to but saw I had no insurance and put it in plaster cast. Walking in 4 weeks (limping for following year).
Cortisol 2 years back - High DHEAS always , High 17-hydroxypregnenolone, other androgens are normal
Various Lab. records from last year
Diet
More History of problems, treatment and possibility from conversation
Hemolysis Can also cause edema, Abdominal edema and just tissue edema are common side effects.
Can not feel my bones, or test if i have splenomegaly etc.
Never tested fluids in body, or csf leak but always mentioned in scans since childhood.
Seattle type manifest with muscle issues.
Just Ribose have changed my daily ability to function.
Some days just brushing hair is a challenge.
Always have one day with heavy bleeding and clot.
BP mostly good and normal, only time it was high when i had severe reaction to fava beans, it was up one day and down another , different reading in both arms.
Dark or yellow urine - After exercise or extreme stress.
When I did the 100 mile hike with my friends as a teen it was like coke, I also ended up in the hospital with pneumonia and a kidney infection and bladder infection
I LOVE to eat but make sure to intermittent fast if I know I will need cognitive or physical function. It just makes me feel horrible to eat most things.
Apples and small amounts of meat and herbs are about the only things that don’t cause me to swell.
If I don’t eat at all and stay mellow and calm and am not exercising or around smoke I can not swell at all.
When I am swollen, I get mistaken for much younger when nothing skin seems older. Like a deflated balloon.
My doctor was suspecting 3beta congenital adrenal hyperplasia and we were also on testing for GIP cushings. My acth test results were not high enough for a diagnosis.
Fluid in abdomen was at its highest when I had my speech and neurological issues. Which was right after eating fava beans for the first time. I made a big batch of multi bean soup ate some- started to feel tired and sick and was too tired to cook so kept eating frozen soup. Was unknowingly making myself sicker/ this was pre knowing of my G6PD def.
I have had anemia in the past but it was thought to be related to my heavy periods. Always had anaemia since early teenage.
I always feel as though when I feel “sick” that my head is going to explode from the inside. I asked them to check my ICP and my docs looked at me like I was a crazy person.
I can need a blood test and not get a docs appointment for 2-3 weeks. By the time I go in I feel differently than when I made the appointment.
I want to do a full genome when I can afford it
ever got bleeding time clotting time tested? - No
may be for your heavy bleeding in mensturation -> rs33978901(C;T) association with Von Willebrand disease type 1
I need to check my blood group!
Also take methylated B for MTHFR.
No one in either the G6PDD or AMPD1 patient groups has both like me.
My parents were chain-smokers- I was always sick as a child.
Love traveling but always get very sick
What symptoms ribose have changed?. Please write few words for this. - Exercise fatigue. I can get out of bed without being tired. I can brush my hair and shower. I can walk without needing to rest for 2 days after to recover. I always still did these things But now a day when I forget my ribose, it’s hard to imagine that was my norm my entire life. I always just thought Inwas lazy or out of shape.
For headaches - Yes- I take triptamines for that in the form of microdosing magic mushrooms.
Before I get migraines I do get inflammation on my scalp
Cimetidine has made a big change in many ways for me, like Less swelling overall since staring it. Still get episodes- but does not seem as severe.
My lungs work and air goes in but it’s like I can’t get enough air at all. I have to be super mindful to not over breath and hyperventilate. I have larger than average lungs. No fluids they mentioned.
When my BP is high I have POTS Postural orthostatic tachycardia syndrome . And get light headed standing. When I had my cognitive issues I had severe pain when standing but was ok lying down. The short of breath is in any position. But only when swollen
I don’t urinate or sweat. Since cimetidine I have started sweating and since starting l serine I actually urinate and have thirst, I can go a day or two without drinking water. I should say I don’t urinate a LOT Then suddenly I will urinate a large amount when swelling goes down, Even in sauna I would not sweat. Just turn red and get a headache and vomit, Since starting Cimetidine I sweat.
I also have mild wall thickening of distal small bowel and wall thickening and pericolonic stranding and a Hiatal hernia
I have a mutation on my wnk1 gene - It troubles ions and anhydrosis also there.
Ever noticed any inability to feel body pain? Or limbs pain? - All the time- will have bruises or cuts and not realize walked on a broken leg etc.
When swelled, ever tried diuretics? Do they help little or very well? - Very little. Sometimes I even swell more.
The only time I really pee and deflate is fasting, Usually day three I pee and pee and pee
No mutation in exome for 3beta hsd.
Food with fructose helps with g6pd
any test data bile, urobilinogen etc?? (they increase in hemolysis). None. I do get diarrhea and my poop turns yellow/ orangey brown/ liquid
Dex suppression test, I suppress normally
I had a slight rise in 17-hydroxy pregnenalone but not enough to warrant a diagnosis according to the doctor.
I don’t have any food allergies, I have been allergy tested several times. (Latex and lidocaine).
Systemic Lupus Erythematosus ? - Was told by one doc I had it based on my rash but another said no.
any skin hyperelasticity? None. My gran had this though.
Asthmatic? Was diagnosed with it but inhaler never helped at all. Ribose solved the issue with breathing while exercising
It’s not like I smell smoke and can’t breath- I smell the smoke and it might be 1 hour or several later when the swelling starts. With exercise it’s instant.
I exercise I feel like I am dying (slight exaggeration) right away. It does not matter that I walk 2-3 miles every day
If it were anaphylaxis- why do so many things trigger it? And would that not show up in bloodwork? I can feel horrible and have perfect basic labs
I just swell up mostly in gut but also face neck- when REALLY sick hands and feet as well. Rings will break off
you are g6pd with extreme intolerance so angioedema (not same as HAE but similar issues) -Agreed- I think G6PDD plays a role. I have not met another with AMPD1 also.
all trigger - causing intolerance - causing oxidative stress (what's happening in between).
My dad when he died looked much older, He was 52, But the autopsy said he looked decades older. he was an alcoholic. gran had pacemaker. Had a heart attack when young. Dad had heart issues and got pacemaker before 40.
nicotinamide adenine dinucleotide phosphate, or NADP. Its reduced form, NADPH, is the donor of reductive potential to glutathione and thioredoxins, which in tum are used (directly or indirectly) by glutaredoxins, peroxiredoxins and glutathione peroxidases to neutralize ROS (see Figure Figure1).1). Thus, NADPH serves as the ultimate donor of reductive power for the large majority of ROS-detoxifying enzymes. NADPH can be generated by several metabolic pathways, including the reactions catalyzed by the malic enzymes, isocitrate dehydrogenases and folate dehydrogenases; but the main source of cellular NADPH are two enzymes of the oxidative branch of the pentose phosphate pathway (PPP), 6-phosphogluconate dehydrogenase (6PG) and the PPP rate-limiting enzyme glucose-6-phosphate dehydrogenase (G6PD) (see Figure Figure1).1). Importantly, overexpression of G6PD in D. melanogaster led to higher levels of NADPH and an increased ratio of reduced to oxidized glutathione (GSH/GSSG), concomitant with extended lifespan [2].
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5239434/
Exercising too much or too little. Exercise is an important part of any healthy lifestyle, but too much can increase oxidative stress in our bodies. In general, more than 60 minutes per day is considered excessive, while less than 30 minutes five times a week is not enough.Excessive alcohol consumption. Drinking alcohol increases your levels of cytokines, inflammatory molecules that are linked to oxidative stress.Exposure to tobacco smoke. Tobacco smoke contains more than 4,000 toxic chemicals that lead to oxidative stress.Exposure to air pollutants. Allergens and industrial pollution increase oxidation in our bodies.Excessive stress. Stress and the stress hormone cortisol increase inflammation, which further increases free radical production.Ionizing radiation. Exposure to the sun, x-rays, radon, hair dryers, cellphones, airplanes, electric blankets and waterbed heaters can contribute to oxidative stress.Eating charbroiled foods. These contain polycyclic aromatic hydrocarbons, which can contribute to oxidative stress.Exposure to fungal toxins. Environmental molds (like those in bathrooms and basements) and internal molds and fungi (those related to your gut) can produce toxins that increase oxidative stress.Poor liver and gut detoxification. When the liver becomes overwhelmed with toxins from food (like when you eat too much sugar) or the environment (like exposure to pesticides or mercury), it becomes inflamed and produces more free radicals.Chronic infections. Dental infections and chlamydia can cause hidden infections that contribute to oxidative stress.Lack of sleep. Sleep deprivation increases oxidation.
https://www.wallerwellness.com/what-is-functional-medicine/understanding-oxidative-stress
I don’t process beta keratin well. Taking Sundried tomato for high lycopene.
How does fasting impact atp? - by accelerating metabolic pathways (except carbs)
L serine and cimetidine helped most with sleep. Had zero rem and only a few hours since birth. Now getting 6-8 hours a night and ave 2 hours rem.
With regard to L-serine and reversible conversion to glycine in vivo, oral administration is reported to improve sleep in humans (Inagawa et al. 2006; Yamadera et al. 2007). Glycine is an inhibitory neurotransmitter like gamma-aminobutyric acid (GABA). Shigemi et al. investigated the effects of simultaneous administration of the GABAA receptor antagonist picrotoxin, the glycine receptor antagonist strychnine, and L-serine (Shigemi et al. 2008). They found that the hypnotic effects of L-serine were inhibited by the GABAA receptor antagonist picrotoxin, but not by strychnine. On the other hand, the hypnotic effects of glycine were inhibited by the glycine receptor antagonist strychnine. That report showed that the mechanism of action differs from that for glycine. However, whether a similar mechanism of action exists in humans is unknown from our study.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155056/
L-serine and glycine reversibly can make each other in lab. Lserine works like glycine in brain so you sleep better.
Your glycolysis impared and so not coming ahead to form glycine well so not only nadph low but also glycine low so double effect on bad sleep.
adenosine is an inhibitory neurotransmitter. This means, adenosine can act as a central nervous system depressant. In normal conditions, it promotes sleep and suppresses arousal.
Almost all of the 100,000 people in the AMPD groups suffer sleep disturbances, Many since childhood. No as severe as myself. The anecdotal evidence there is what lead me to start looking at AMPD1 issues around sleep, Several studies link to it. It might also explain the higher dementia rates in AMPD1. Less sleep more tau and bA protein build up.
I’ll go into some details on how Adenosine functions in the body, but to some degree it can be intuitively understood by anyone who has some familiarity with Caffeine. If you drink coffee regularly, and you go without, you feel the effects of too much Adenosine pretty quickly. Over time, Caffeine consumption causes: a 20-30% increase in the number of receptors (sensors in the body) for Adenosine8; increased sensitivity of Adenosine receptors9; and increased concentration of Adenosine in the blood10. These are all thought to arise as the body’s mechanism for responding to blocked signals to Adenosine receptors, which is the mechanism by which Caffeine works (and makes you feel stimulated). So if you’ve ever felt that “need a cup of coffee so so bad” feeling, you’ve felt something akin to the acute effects of too much Adenosine.” I need to find the study that showed sleep latency issues
describe your symptoms related to coffee. - I don’t drink coffee often as it makes me feel horrible, I fall asleep with coffee. For most people it makes the feel wired and awake, Any stimulants make me tired.
More oxidative stress - Since G6PD plays a key role in the production of NADPH utilized by the glutathione reductase to maintain GSH in the reduced form, one may deduce that, in G6PD deficient muscle, a lower level of NADPH leads to a decrease of intracellular GSH, which in turn increases the cell vulnerability to the reactive oxygen compounds and free radicals formed in the aerobic metabolism. With reference to this, it should be emphasized that heart and skeletal muscle have low levels of catalase and superoxide dismutase as compared with other tissues and therefore might be expected to be dependent on GSH linked reactions, for detoxification of reactive oxygen species (Ji and Fu, 1992). Oxo-radicals are in fact responsible of myofiber disruption and loss of intracellular proteins, which cause post-exercise soreness (Armstrong, 1990).
https://www.g6pd.org/en/G6PDDeficiency/ResearchPapers/G6pdMusc.aspx
kidney needs lots of energy for ions active transport and hence water balance in body and your urge for salt as when you might be loosing them heavily, also a reason may be why you urinate less, because you loose lots of ions as not having enough nadph & atp for their absoption by active transport mechanism
Self Tried
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 pycnogenol - 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
- want wgs (whole genome sequencing) for more insights
- looking for evidence for getting ribose from microbiome. (none usable afaik)
Patient own Goals
Be able to hike- ribose does that. 2. Steady reliable cognitive function. The swelling I know impacts my health or is a phenotype of underlying issues but over mental function it’s less of an issue.
Update May 2020 - I am diagnosed with Bahcets yesterday. The doctor wanted to put me on colchicine right away but the issue is my G6PD, it can cause hemolytic crisis.
Current condition- vastly improved. Headache was when sick 3 weeks in March. Could not keep down supplements that make a difference as severe vomiting for those 3 weeks. Other than that no headache! First time in life ever. No aura migraine and no migraine at- just painful headache from sickness. Most severe could be 2 times a week in the summer. Sleep is great when I am not busy with work. We have enough for the house now and will be slowing down in January once all the projects we have pre booked settle down.
The biggest change in pills seems to be the Nattokinase. I notice when I don’t take that one or run out. But all make a difference.
Nothing serious right now. Occasional hip and knee joint pain and cervical neck pain form my degenerative spine- but those are longterm issues and I prefer CBT to focus around the pain than meds. Aside the 3 weeks of what may have been Covid where AI could not take my pills for vomiting and diarrhea and had a flare, I have been feeling remarkable.
Still have swelling to stressors, but less severe I would say overall. Last flare had ulcers in mouth and vaginal. Those happen when I get really sick. Happened more before pneumonia vaccine as would get bronchitis and pneumonia more often.
New Updates
- I am going to be getting a second test to confirm my GSD genes.- It will be 4-6 months until I can see a specialist for that and have further input. This encompasses my BehΓ§ets, my swelling, cognitive issue, muscle myopathy, high alt and ast/ nash, Stomach pain. The treatment is very easy for the two types I have mutations for and a genetic trial is showing some success in treatment.- My gut feeling is this is what it is. My childhood phenotypes to those in adult all correlate to study data and anecdotal patient experience.- It’s still in clinical trials right now.- If biopsy confirms the GSD I will be looking to get on the trial. They are looking for adults for it.- That c reactive protein! And I am not even in a flare right now.- Yes amazing. The CRP and the ALT stand out particularly- The alt is low right now for me- Talking to my mother- it was not the swelling that caused them to think abuse- It was my liver. They thought they were giving me alcohol π€¦π»♀️- My father was a heavy drinker and mother refused to stop smoking while pregnant so I could see someone looking in the surface making assumptions.
Latest lab reports are available at this link: https://bmjcaselogvivek.blogspot.com/2020/05/42-year-old-woman-with-multiple-health.html or below
Interesting. I was wondering why the doctor wanted to run so many liver tests. Without being able to ask him- I started looking and trying to correlate genes and labs to phenotypes.
A potential lead? It’s VUS but in some data linked to Glygogen storage disease IXb
Could this also explain why I am in ketosis even when not eating low carb? (Even eating cakes and fruits my keto strips remained higher than normal)
I have 2 VUS genes- one for type 3 and one for type 9. Both manifest similarly but type 3 specifically manifests with the swollen belly and in the group those with type 3 are phenotypically similar to me.
Type III, Cori disease, or Forbes disease. People with type III don’t have enough of an enzyme called the debranching enzyme, which helps break down glycogen. The glycogen can’t fully break down. It collects in the liver and in muscle tissues. Symptoms include a swollen belly, delayed growth, and weak muscles.
GST has PCOS and oral ulcers as well as common issues. Here is a thought. What if the high dose Cimetidine I took every 4 hours was not what was helping me feel better? What if it’s the cornstarch binder in the drug? Cornstarch is the main treatment in GSD? Just thoughts
So many in the GSD IX group have the exact same type of swelling that comes and goes- accompanied by the feeling sick when eating and vomiting since birth. Many are diagnosed with non alcoholic fatty liver that comes and goes, have oral ulcers and skin issues, and PCOS in women is common. A lot of my phenotypes all link. And with the VUS gene it seems a potential lead. There is another in the group who also was diagnosed BehΓ§et’s, but many have ulcers and eye inflammation (bubbles like mine!) without any formal diagnosis. The leading expert on GSD just retired last month and according to the distraught group, there really is no one else who understands the disease in the states. Compared to others, the form seen in my the genetics is a mild version. Hopefully the hospital this doctor practiced at will be able to find someone interested and willing to fill the hole being left.
My new doctor has also Ordered an immune specific DNA test.
Ulcers are a common symptom of glycogen storage issues
https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1600-0714.1995.tb01154.x
Could this give positive pathergy?
Also being another g6phosphate mediated issue- how does that impact?
All speculation as thi gene is VUS
Update (mid august - 2020)
Avi- how is your health? sorry i couldn't keep up with your updates since covid started.
pt- So many chemicals. I just found out my fish supplier uses meat glue
pt- Overall health is good. I am able to exercise daily now. Sleep well (when not working on deadline) That said I had been gaining weight (not edema- face stayed slim). After working with a client I saw she had the same gene I revered having and was told it means she gains more weight on saturated fats. Well that’s been 90% of my diet! Switching to mostly olive oil as my fat and less red meat/ bacon and hopefully that changes the weight issue.
Also on no other supplements aside an organic food based multi vitamin and actually feel awesome.
Covid has everyone busy.
Avi- everyone gain weight with fat, but if intake is same as energy use then total fat accumulation may be zero (this is basic traditional knowledge in books, may not apply to all)
pt- No- there are 13% that gain more weight on the same calories and save fat amount.
Avi- interesting info for me
pt- Also on no other supplements aside an organic food based multi vitamin and actually feel awesome.
wow, awesome!!
Avi- no ribose or something during exercise? sleep is good even without supplements?
pt- No ribose!!!!!!
Avi- and for sleep? how many hours now?
pt- Sleep is 6-8 hours
Avi- awesome
Pt- Once we are not working so much and I can get a more natural cycle going new will see where I balance
Avi- great, are you easy to wake up in the 6-8 hours of sleep or nothing affects you like noise, music or someone trying to wake up in that time due to deep sleep?
pt- My dogs wake me up at the same time every day to eat it’s the best time that differs. Only had 3 hours last night to stay up and watch the meteor shower, Worth it
Avi- so you sleeping deep, that's interesting and good. just saw a youtube video of meteor shower and recall i had seen it in childhood, 7 meteors in an evening, never again
pt- It may be hard to see in India with so much light pollution in towns- in the countryside perhaps
Avi- yes, but main issue is low literacy and interest about these/science.
Avi- i had habbit of sleeping late, and electricity was rare thing like 10-15 few hours every week, so used to sleep on terrace and look in sky
pt- It’s amazing how sometimes having less give more of an experience
pt- How have things been for you? Busy?
I tried sending my GSD paper to researchers.
But no one would take me seriously.
No one even red it
The only response I got back was form one doctor who said “I don’t speak to patients through my research channels”
Avi - i did good work on covn.org (quarantine project) but its not deployed. It is coming soon as open source product version 1. another i did was developing website for india's first evaluated telemedicine products registry useful for doctors and hospitals. rest all were many small failing projects that i got to learn from.
pt- I don’t want to be his patient- I want his opinion on my hypothesis. Sometimes the failed projects are the best for personal growth. And lead to the projects that end up being life changing. I saw India will have health cards soon with all medical data on it
Avi- you may send me any details and any papers anytime, i try to read them though mostly i don't have much inputs. i am still at same hypothesis of ampd1+g6pd interacting together but find it difficult to get a way for proof or get a way for better care.
yes, since many years many promise this and none delivery and i am sure more failures ahead for a few years atleast. (how a record without a computer and skilled people to operate, even if a record, how to open and read in low resource setting, surely mobile is useful but how much possible to do from mobile when caring 200patients a day on average)
pt- Do people have debit cards for banks? It could be a similar system. A central record and people’s info could be called or mailed in if people don’t have a computer.
Did I not mention to you the GSD?
I found 2 VUS genes that would explain ALL my health issues
Avi- you had mentioned
Glycogen Storage Disease
I meat with a doctor online on the 17 about it
The diet I am following is to treat that
So far it seems to be working well.
there are many such projects which started and failed. situation is improving fast for these but lot more improvement need for universal access
pt- All women with GSD have polycystic ovaries from 4 on up- or younger
Avi- edema and sleep also?
pt- Many of the GSD patients have edema (there are also several cases of pseudo cushings related). All have sleep issues from birth unless fed cornstarch or fats as fuel. Many kids have hypoglycemia (my German doc as a kid gave my gran truabenzucker (glucose) for me when I would have my moods.Many also have skin issues.
Avi- amazing
pt- NAFLD as well is the main characteristic, Which I have had forever, In the support group it is like 100% exactly like me
Avi- so mainly diet modification is needed or anything more that may help?
The heart issues are also the same
100% diet
Avi- seems like some clear answer for you
pt- The body can not convert glycogen so it builds up
No carbs so no glycogen made
All my fruits gave me energy but made my health worse
Following the diet in this study- a modified Atkins diet. Only had added saturated fats- switching to only olive oil and we shall see how it goes. Been less than a week so far.
Avi- awesome
happy to know about this great progress
pt- My heart heart been being weird and no passing out
Heat intolerance is another common symptom
That’s moderately better but I was given a cooling vest which has been amazing
Lasts 2-4 hours and I can be in the warm weather.
That’s my research on the type I have (have genes for 3 and 9)
Avi- i recall being added to whatsapp group
probably same research
pt- Not much happened there
Covid took everything over
Avi - i have read GSD in my course in 2nd year
not just name but also its types
just not getting why it was not diagnosed by anyone yet
pt- There are so many types and they all manifest differently
My parents were poor and were written off when they went for help
After they lost custody of me my grandma rarely took me to the doc unless I was VERY sick.
She did not want me taken from her as well. That distrust in docs lasted most of my life
Avi- but when you grew up you went to many
and even researched yourself alot
pt- Even with my ectopic I refused to go to the doctor through 2 weeks of pain until I was bleeding and passed out
That did not start till I lost my ability to see and speak and I was motivated to find out what was wrong
Now I have a great medical team.
avi - why still missed by doctors?
pt- No me was looking?
Docs claimed my parents abused me instead of helping them when they asked for it
Their bias against my poor family
There are many not diagnosed until they were adults
Av- you started to consult doctors then? and its been years, still doctors could not diagnose it
pt- Speciality docs look at their one part
The neurologist looks only at the nerves
The rheumatologist looks only at the skin issue
The endocrinologist looks only at the PCOS and cortisol issue
avi - 1) they did not hear 2) they didn't even knew. (mostly doctors don't get complex/rare cases and even if they get they look for common simple answers, this is taught to us).
pt- There was no one to put the puzzle together
avi- i think no other easy answer. but i am still like how missed if its so common (rare) disease
same lesson to look at patient as a whole is important here, and with that also keep researching and also look at common (and less common things) than directly jumping on the rare possible answers
pt- I think I wasn’t so severe as type 1 patients
This man is type 9 and was not diagnosed until adult.
Changed his diet to the medical one and was able to exercise
That is one year difference
His build is so similar to mine with the edema
Avi- i had read names of type 1,2,3 .. googled to find out many more
pt- 16 types now I think
pt- I wonder if it’s severely under diagnosed in milder non life threatening forms
And that’s why keto life if diets work so well for so many to feel energy and health
Avi- this is important learning point for me now..with great example
idk why but i never tried to look in details of GSD for your case
foolish
Pt- It was a fluke I even looked at it
Avi- The only reason I did was because my new rheumatologist was testing me to put me on an immune suppression drug
I thought he felt like me and was looking at my liver because he saw a phenotype in me that he wanted to test
But really he was just doing a standard blood test before giving me a med that can impact my liver
Before he told me that and I assumed that he saw phenotype it motivated me to go back into my genetics and look for all genetic issues related around liver
That’s how I found the GSD three and nine in my VUS genes
So random
And then joined a support group and explain to them my symptoms and issues and everyone in the group 100% agreed I had it
Avi- cool!!
your VUS geneGSD three and nine in my VUS genes? from snpedia?
pt- The PCOS early explains my shaving at 2-3 years old
Avi- A variant of uncertain significance is an allele, or variant form of a gene, that has been identified through genetic testing but whose significance to the function or health of an organism is not known.
pt- It marked likely pathogenic in VUS
Avi- got it,interesting
pt- 1 other in the group has the same gene and is diagnosed with biopsy as well
The gentleman we discussed has VUS- the very first person with it
Many people end up having a new mutation on a different SNP of a gene
There is still a chance it is not GSD and all other health issues are unrelated
But I don’t know any other disease causing PCOS in all girls under 4.5 years old
Also many pregnancy losses in the group
Not much research on that
Avi- let see how much the diet helps, other than that there seems to no treatment if its gsd. if its something else we find later then may be something possible to do better.
pt- So far diet is going great and potentially also why Cimetidine helped
It may not have been the Cimetidine at all
But the fact it’s 99% cornstarch filler. 4 tablets is a tablespoon
And cornstarch was traditionally used as a slow releasing carb to avoid crashes and allow people to sleep through the night
My racing heart at night may very well have been Hypoglycemia
Haven’t had it since switching diets either asleep or awake
New study data is showing keto is actually better
For start helps with hypokalemia but makes liver fatter and does nothing for myopathy or cardiac issues
Avi - no doubt why many loving keto while many not finding any benefits... very different genetics in people
pt- The more are 2 studies out for my type showing modified Atkins (staying under 10 grams in one study and 20 grams carbs in another daily) help hypoglycemia/ muscles/ heart/ and liver fat numbers
There was a great article in nutrigenetics in the Mediterranean diet
It’s how all precision medicine study should be- let me find the sci hub
I fell with NUTRIGENETICS and NUTRIGENOMICS as well as crispr, most things can be cured
Type 1 GSD (far more fatal potentially) has a Crispr treatment in the works that is looking successful
That said- simple diet modifications are fairly easy.
Maybe one day type 3 will have a gene therapy:)
Or 9- I have genes for both.
Also I missed this gene initially
On promeathease it puts in under “short stature” for the health issue
Avi- i recall that,
the reason i didn't looked deeper in gsd was
I already knew I was shorter and that did not seem so serious
pt- But the reason is GSD.
that i guessed , ampd1+g6pd causing the real issues and gsd is side by side adding more troubles
but the situation may be just opposite
and ampd1 and g6pd both are never so serious but gsd can
pt- It impacts growth. Most kids Lao simply don’t eat. Just like me.
avi- what is your height?
pt.- I think AMPD1 is just another way my muscles are weak. I still have muscle pain- but I can work through it now. It’s a bearable level
I am 5’5 but my dad was 6,4 my 1/2 sister and brother are both over 6 feet
Mother is almost 6 feet
I am the “runt”
German/Russian/ Norwegian is 5’10 average
