Instruction: Buruli (mycobacterium ulcerans) is typically gotten in tropical areas by exposure to contaminated water or bites from infected aquatic type insects iirc. As nasty as these burn pits seem if it were buruli the pits aren't likely the culprit. Burning introduces things into our lungs, which is awful but would not give him this type of infection. If he were stacking the animals etc onto the pit or otherwise handling similar items, well then... bingo.

Output: Middle East isnt tropical (right?), neither is Bairnsdale (Victoria, Australia), both of these places have Buruli ulcers...I have no idea what is going on in OP, but I know neither of my suggestions are commonly thought of in initial work up stages and Ive seen similar presentations here in Oz. And the historical regions of prevalence of a lot of things is changing.QquestionI said typically, which is accurate. I'm certainly familiar with the Australian outbreak. I recall saying bingo, which feels like agreeing to me, and I do agree. It's a definite possibility the specialists they saw didn't consider it. I suppose I muddied the water for no particularly good reason... That's fair.Can also be contracted by unpasteurized dairyIs there a special test for this?Not really, but Id imagine the requesting physician should mention it in their diagnosis list. (It makes the microbiologists go ah, well look for that by setting up these tests)Basically swabs then culture (mycobacterium grow bloody slowly, so it is an extended culture) and PCR (looks for DNA from the bacteria, quicker, but not always as useful).Thanks for the info re burns pits. I would definitely recommend infectious disease specialist/s, being in close contact with burning, dead, decaying animals  human waste is a recipe for really weird parasites/bacteria.

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Buruli (mycobacterium ulcerans) is typically gotten in tropical areas by exposure to contaminated water or bites from infected aquatic type insects iirc. As nasty as these burn pits seem if it were buruli the pits aren't likely the culprit. Burning introduces things into our lungs, which is awful but would not give him this type of infection. If he were stacking the animals etc onto the pit or otherwise handling similar items, well then... bingo.. ### Response: Middle East isnt tropical (right?), neither is Bairnsdale (Victoria, Australia), both of these places have Buruli ulcers...I have no idea what is going on in OP, but I know neither of my suggestions are commonly thought of in initial work up stages and Ive seen similar presentations here in Oz. And the historical regions of prevalence of a lot of things is changing.QquestionI said typically, which is accurate. I'm certainly familiar with the Australian outbreak. I recall saying bingo, which feels like agreeing to me, and I do agree. It's a definite possibility the specialists they saw didn't consider it. I suppose I muddied the water for no particularly good reason... That's fair.Can also be contracted by unpasteurized dairyIs there a special test for this?Not really, but Id imagine the requesting physician should mention it in their diagnosis list. (It makes the microbiologists go ah, well look for that by setting up these tests)Basically swabs then culture (mycobacterium grow bloody slowly, so it is an extended culture) and PCR (looks for DNA from the bacteria, quicker, but not always as useful).Thanks for the info re burns pits. I would definitely recommend infectious disease specialist/s, being in close contact with burning, dead, decaying animals  human waste is a recipe for really weird parasites/bacteria..


Instruction: Did they inform him of the Burn Pit Registry through the VA?

Output: These look like theyre due to an exotic infectious agent. He needs biopsies, cultures, and I would think about trying doxycycline for like 6 weeks. Ask your ID doctor about empiric antibiotic treatment and see what they think.

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Did they inform him of the Burn Pit Registry through the VA?. ### Response: These look like theyre due to an exotic infectious agent. He needs biopsies, cultures, and I would think about trying doxycycline for like 6 weeks. Ask your ID doctor about empiric antibiotic treatment and see what they think..


Instruction: We have done all that and he has bottles and bottles of that medicine but there is never an infection WBC is always normal everything is normal. He does have a vitamin c deficiency

Output: WBC doesnt really mean much. It can be helpful but it doesnt mean this isnt infectious. Has he ever done antimycobacterial therapy? Rifampin, isoniazid, etc?

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: We have done all that and he has bottles and bottles of that medicine but there is never an infection WBC is always normal everything is normal. He does have a vitamin c deficiency. ### Response: WBC doesnt really mean much. It can be helpful but it doesnt mean this isnt infectious. Has he ever done antimycobacterial therapy? Rifampin, isoniazid, etc?.


Instruction: No but we will look into that with his dr

Output: Would you mind updating us if this gets diagnosed or if a future treatment works well? I gave you my best impression but this is not like anything Ive ever seen outside of textbooks, and I want to learn from this in case I ever have the chance to help a patient like your husband.QOut of curiosity, I am NAD, but could this be caused from an insect or spider? The reason I ask is I have friend who was bit by a spider while in Afghanistan and he still suffers complications from the wound site. While not near as extreme as what OPs husband is going through, but is it possible that OP is suffering from some sort of parasite or long term degeneration from venom? Would that turn up on any clinical tests? And do you think it would be prudent for OP to contact medical professionals in the country where OP was originally exposed?Has he had biposies of the lesions?QYes he has had biopsies several in fact alot of them come back as a burn but that's not the proble. This is not a burn.The fact that biopsy reports give the wrong answer and he's seen multiple specialists possibly suggests that you're dealing with a new, hitherto undocumented entity. What treatments has he had for this if any? Response to certain drugs could tell us what sort of disease process this is.

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: No but we will look into that with his dr. ### Response: Would you mind updating us if this gets diagnosed or if a future treatment works well? I gave you my best impression but this is not like anything Ive ever seen outside of textbooks, and I want to learn from this in case I ever have the chance to help a patient like your husband.QOut of curiosity, I am NAD, but could this be caused from an insect or spider? The reason I ask is I have friend who was bit by a spider while in Afghanistan and he still suffers complications from the wound site. While not near as extreme as what OPs husband is going through, but is it possible that OP is suffering from some sort of parasite or long term degeneration from venom? Would that turn up on any clinical tests? And do you think it would be prudent for OP to contact medical professionals in the country where OP was originally exposed?Has he had biposies of the lesions?QYes he has had biopsies several in fact alot of them come back as a burn but that's not the proble. This is not a burn.The fact that biopsy reports give the wrong answer and he's seen multiple specialists possibly suggests that you're dealing with a new, hitherto undocumented entity. What treatments has he had for this if any? Response to certain drugs could tell us what sort of disease process this is..


Instruction: My husband is fighting for his disability because this is so debilitating he cant work. But without a diagnosis the disability people keep denying himHire a VA disability appeals attorney. It cost me 2 grand twice, the first time got me from 30% to 90% and the second time got me from 90% to 100% total and permanent. I personally have far less severe injuries than what your husband has and was suffering the same issue.There are also attorneys for SSI/SSDI benefits, though I havent personally used them as applying for SSDI as a 51 year old is relatively easy. As a 27 year old though it is damn hard and you likely will need a lawyer or a few years of trying, and a lawyer works out cheaper in the long term.

Output: Need more history, things like past medical problems, medications, drug use, etc. Differential as I see it includes infectious, autoimmune, vasculitis, drug use, medication, environmental (especially considering the burn pit). It's very odd that it would take years after that exposure that these ulcers would start, but not impossible. Why has he lost countless jobs? What did previous skin biopsies show? What have his labs shown?

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: My husband is fighting for his disability because this is so debilitating he cant work. But without a diagnosis the disability people keep denying himHire a VA disability appeals attorney. It cost me 2 grand twice, the first time got me from 30% to 90% and the second time got me from 90% to 100% total and permanent. I personally have far less severe injuries than what your husband has and was suffering the same issue.There are also attorneys for SSI/SSDI benefits, though I havent personally used them as applying for SSDI as a 51 year old is relatively easy. As a 27 year old though it is damn hard and you likely will need a lawyer or a few years of trying, and a lawyer works out cheaper in the long term.. ### Response: Need more history, things like past medical problems, medications, drug use, etc. Differential as I see it includes infectious, autoimmune, vasculitis, drug use, medication, environmental (especially considering the burn pit). It's very odd that it would take years after that exposure that these ulcers would start, but not impossible. Why has he lost countless jobs? What did previous skin biopsies show? What have his labs shown?.


Instruction: He has no other medical problems, he isnt one any medications, no drug use in fact he quit smoking 5 months ago. He started having small ulcers as soon as he came home but now they are way worse. Hes lost jobs because he has to be off so long and they let him go

Output: And the skin biopsies? And the labs?Qsome have came back as a burn which they are not and others show nothingAnsNeed the actual reports, which are always available through either a patient portal website or though a medical records department. Also need the lab reports.

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: He has no other medical problems, he isnt one any medications, no drug use in fact he quit smoking 5 months ago. He started having small ulcers as soon as he came home but now they are way worse. Hes lost jobs because he has to be off so long and they let him go. ### Response: And the skin biopsies? And the labs?Qsome have came back as a burn which they are not and others show nothingAnsNeed the actual reports, which are always available through either a patient portal website or though a medical records department. Also need the lab reports..


Instruction: Does This Really Sound Like Dermatomyositis?BackgroundAge, sex: 31Mheight: 5 11race: whiteprimary complaint: purplish skin along with tachycardia and extreme fatigue/tirednessduration: I have experienced skin discoloration since I was a kid, but this progressively got worse once I was an adult. The tachycardia started when I was about 24 and has progressively gotten worse.Medications: My rheumatologist has me on hydroxychloroquine (200 mg), prednisone (started at 50 mg, but now taking only 5 mg), and pantoprozole (40 mg). An ER doctor started me on meclizine (25 mg) as needed for dizziness that started about a month ago. I have also been on Adderall XR since 2019. I currently take 25 mg, up to two in the morning. I do not drink, smoke, or use any recreational drugs.Other medical conditions: ADHD. Morphea (I developed this when I was 8, and it has never gotten any bigger). Splenomegaly. In July 2021, I had encephalitis due to reactivation of varicella-zoster virus.I apologize in advance for the length of this post. I just want to be sure I include anything that might be relevant.Starting in 2014, my heart rate would randomly jump up to 120-140 bpm, and I would experience tingling in my extremities. The purplish skin started when I was a child, but it has gotten worse over the last few years. Between 2014 and 2021, I had multiple echocardiograms done to check for any abnormalities of the heart, but doctors never found any. I also wore a holster for a month, and that came back mostly normal.A couple of months after I had encephalitis, a rheumatologist diagnosed me with dermatomyositis based on the redness and scaliness on my knuckles and redness around my fingernails. Lab tests showed that my muscle enzymes (CK, aldolase), liver enzymes, and IgM all were elevated, but additional diagnostic testing has not shown anything to confirm dermatomyositis. Ive had an MRI of my legs, hands, abdomen, lungs, and heart. The abdominal ultrasound showed that I have a slightly enlarged spleen. Everything else looked normal. I have never experienced muscle weakness or the characteristic rash that DM patients usually have. I did see a dermatologist after I started treatment. She said it looked like it could be DM, but there wasnt anything on my skin for her to biopsy.Since my rheumatologist started treating me for DM, my heart rate tends to stay around 80-90 bpm, and the palpitations are much less severe when I do experience them. My most recent blood tests came back normal except for my IgM. However, my skin still turns purplish, and it sometimes feels like there is a rubber band around my arms.I dont know if there is any connection between the encephalitis, tachycardia, and DM, but it makes me wonder if there is something more serious than DM going on. My doctor does not think its necessary to explore other possible causes. She says that the treatment she has me on will treat any rheumatological disease. I really like and respect her. Shes the first one Ive seen who acts like she cares about my health. I just want some kind of confirmation that shes right.I appreciate any feedback, insight, suggestions, etc. Also, I can submit my full CBC report if that would help at all.

Output: Please include one of preferably more of the pictures in your post as an imgur.com link. It makes it easier to help with something when it can be examined visually. Additionally, share the values of your ANA, ENA, CK, aldolase

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Does This Really Sound Like Dermatomyositis?BackgroundAge, sex: 31Mheight: 5 11race: whiteprimary complaint: purplish skin along with tachycardia and extreme fatigue/tirednessduration: I have experienced skin discoloration since I was a kid, but this progressively got worse once I was an adult. The tachycardia started when I was about 24 and has progressively gotten worse.Medications: My rheumatologist has me on hydroxychloroquine (200 mg), prednisone (started at 50 mg, but now taking only 5 mg), and pantoprozole (40 mg). An ER doctor started me on meclizine (25 mg) as needed for dizziness that started about a month ago. I have also been on Adderall XR since 2019. I currently take 25 mg, up to two in the morning. I do not drink, smoke, or use any recreational drugs.Other medical conditions: ADHD. Morphea (I developed this when I was 8, and it has never gotten any bigger). Splenomegaly. In July 2021, I had encephalitis due to reactivation of varicella-zoster virus.I apologize in advance for the length of this post. I just want to be sure I include anything that might be relevant.Starting in 2014, my heart rate would randomly jump up to 120-140 bpm, and I would experience tingling in my extremities. The purplish skin started when I was a child, but it has gotten worse over the last few years. Between 2014 and 2021, I had multiple echocardiograms done to check for any abnormalities of the heart, but doctors never found any. I also wore a holster for a month, and that came back mostly normal.A couple of months after I had encephalitis, a rheumatologist diagnosed me with dermatomyositis based on the redness and scaliness on my knuckles and redness around my fingernails. Lab tests showed that my muscle enzymes (CK, aldolase), liver enzymes, and IgM all were elevated, but additional diagnostic testing has not shown anything to confirm dermatomyositis. Ive had an MRI of my legs, hands, abdomen, lungs, and heart. The abdominal ultrasound showed that I have a slightly enlarged spleen. Everything else looked normal. I have never experienced muscle weakness or the characteristic rash that DM patients usually have. I did see a dermatologist after I started treatment. She said it looked like it could be DM, but there wasnt anything on my skin for her to biopsy.Since my rheumatologist started treating me for DM, my heart rate tends to stay around 80-90 bpm, and the palpitations are much less severe when I do experience them. My most recent blood tests came back normal except for my IgM. However, my skin still turns purplish, and it sometimes feels like there is a rubber band around my arms.I dont know if there is any connection between the encephalitis, tachycardia, and DM, but it makes me wonder if there is something more serious than DM going on. My doctor does not think its necessary to explore other possible causes. She says that the treatment she has me on will treat any rheumatological disease. I really like and respect her. Shes the first one Ive seen who acts like she cares about my health. I just want some kind of confirmation that shes right.I appreciate any feedback, insight, suggestions, etc. Also, I can submit my full CBC report if that would help at all.. ### Response: Please include one of preferably more of the pictures in your post as an imgur.com link. It makes it easier to help with something when it can be examined visually. Additionally, share the values of your ANA, ENA, CK, aldolase.


Instruction: Thank you for your response. My apologies for not getting back to you sooner.I am not sure about the ENA. I did a Google search and think I found what test results to include. Let me know if these results are not what you need.Below are the results of lab tests from September 22. These tests were done before I started treatment for DM.CK - 1,063 units/literAldolase - 26.3 units/literANA - Negative (<1:80)RNP/Sm - < 12 unit(s)Anti-Smith - < 12 unit(s)C3c - 107.0 mg/dLC4c - 20.0 mg/dLKappa FLC - 12.7 mg/LLambda FLC - 17.5 mg/LFLC - 0.73 ratioIgG Card - < 9 GPL-Units/mLIgM Card - 16 MPL-units/millileterI'm not sure if ALT and AST help with diagnosing DM, but they came back abnormal. This isn't unusual for me (they've been as high as 240 on tests I've had done over the last 10 years), but I thought I'd include them, just in case:ALT - 56 units/literAST - 44 units/literBelow are the changes in some of these values when I had the lab tests performed again on November 4. These tests were done after I had already started prednisone and hydroxychloroquine.CK - 83 units/literAldolase - 9.2 units/literIgM Card - 23 MPL-units/millileterALT - 15 units/literAST - 14 units/literHere are the best images I have of the skin discoloration. Because the discoloration on my knees is usually worse while I'm in the shower and right after I get out, I took the photos and video of my knees in the shower. There is nothing graphic in these images, but I wanted to explain why I took them in the shower.Right hand - https://imgur.com/icyYOPQKnuckle, right hand - https://imgur.com/fD48uK0Left arm - https://imgur.com/JVPth2XBoth knees - https://imgur.com/bszpHWgRight knee - https://imgur.com/cjdn4zVBlanching (Video) - https://imgur.com/3KszJT7

Output: No mention of the most important test - skin biopsy results. Everything you present is less important.

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Thank you for your response. My apologies for not getting back to you sooner.I am not sure about the ENA. I did a Google search and think I found what test results to include. Let me know if these results are not what you need.Below are the results of lab tests from September 22. These tests were done before I started treatment for DM.CK - 1,063 units/literAldolase - 26.3 units/literANA - Negative (<1:80)RNP/Sm - < 12 unit(s)Anti-Smith - < 12 unit(s)C3c - 107.0 mg/dLC4c - 20.0 mg/dLKappa FLC - 12.7 mg/LLambda FLC - 17.5 mg/LFLC - 0.73 ratioIgG Card - < 9 GPL-Units/mLIgM Card - 16 MPL-units/millileterI'm not sure if ALT and AST help with diagnosing DM, but they came back abnormal. This isn't unusual for me (they've been as high as 240 on tests I've had done over the last 10 years), but I thought I'd include them, just in case:ALT - 56 units/literAST - 44 units/literBelow are the changes in some of these values when I had the lab tests performed again on November 4. These tests were done after I had already started prednisone and hydroxychloroquine.CK - 83 units/literAldolase - 9.2 units/literIgM Card - 23 MPL-units/millileterALT - 15 units/literAST - 14 units/literHere are the best images I have of the skin discoloration. Because the discoloration on my knees is usually worse while I'm in the shower and right after I get out, I took the photos and video of my knees in the shower. There is nothing graphic in these images, but I wanted to explain why I took them in the shower.Right hand - https://imgur.com/icyYOPQKnuckle, right hand - https://imgur.com/fD48uK0Left arm - https://imgur.com/JVPth2XBoth knees - https://imgur.com/bszpHWgRight knee - https://imgur.com/cjdn4zVBlanching (Video) - https://imgur.com/3KszJT7. ### Response: No mention of the most important test - skin biopsy results. Everything you present is less important..


Instruction: She said that there was nothing for her to biopsy. This is the note that she included in her report:Physical exam: dilated nailfold capillary loops of fingernails, L>R. Mild erythema of proximal nail folds of fingernails. Ragged cuticles. No evident Gottron's papules, heliotrope sign, shawl sign, holster sign, or other stigmata of DM. Scalp clear with no erythema or scale-prior labs including myositis panel, CK (elevated), and aldolase (elevated) reviewed. Negative myositis panel noted.-findings on exam today support prior diagnosis of DM (esp in context of markedly elevated CPK and aldolase), although unfortunately there is not a high-yield spot to biopsy to provide additional support of this diagnosis. Suspect that pt's cutaneous findings have improved with plaquenil + prednisone therapy

Output: Spots change over time. Right hand knuckle that you show could be a Gottron's papule. Lupus can look like this as well, as can many other conditions.

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: She said that there was nothing for her to biopsy. This is the note that she included in her report:Physical exam: dilated nailfold capillary loops of fingernails, L>R. Mild erythema of proximal nail folds of fingernails. Ragged cuticles. No evident Gottron's papules, heliotrope sign, shawl sign, holster sign, or other stigmata of DM. Scalp clear with no erythema or scale-prior labs including myositis panel, CK (elevated), and aldolase (elevated) reviewed. Negative myositis panel noted.-findings on exam today support prior diagnosis of DM (esp in context of markedly elevated CPK and aldolase), although unfortunately there is not a high-yield spot to biopsy to provide additional support of this diagnosis. Suspect that pt's cutaneous findings have improved with plaquenil + prednisone therapy. ### Response: Spots change over time. Right hand knuckle that you show could be a Gottron's papule. Lupus can look like this as well, as can many other conditions..


Instruction: 3.5f with mystery illness 4 childrens hospitals and 14 specialists cant diagnoseThis is going to be so, so, so long and Im so sorry. But we dont know what else to do. Ive tried to compress it the best I could. 3f with medical mystery.First year of life: -couldnt latch until 2 months old -refused all food, in all forms. -up every 20 minutes every single night, wouldnt nap longer than 30. -had newborn shakes that stuck around a year old. -consistently has BM 60-70% mucus, and majority of time was green.February 2017(1 year old): -staring spells began -CT at hospital was clean, sent us to neuro. -EEG performed, no episodes happened, clean. -lost all of the words she had and remained non verbal, despite starting speech therapy at 18 months, until over 2.Eventually they went away after a few months. Doc said absence seizures are harmless and not to be concerned. Released us from his care.June 2017: 16 months old. -woke up and couldnt walk. Screamed when weight put on leg. Took to urgent care. Urgent care ran labs and found a sed rate of 44. Referred us to an orthopedic surgeon. Orthopedic surgeon did treatment for transient synovitis. When it became clear that wasnt the cause, sent us to rheumatology.August 2017: -diagnosed with Oligoarticular JIA (right knee only at this point). -started on naproxen.November 2017: -first steroid injection. Kenalog into right knee. -two days later, woke up screaming and manically itching legs. Hives sprouted. Face swelled, eyes became black, hives all over neck and face. Started wheezing and gagging, rushed her to the ER. ER said it was an anxiety attack from the itching, not anaphylaxis. -steroid injection worked for about two months.Spring 2018 (2 years old): -staring spells started creeping back. -swelling in both knees was coming and going. She was in extreme pain and couldnt walk more than a few feet. Rheumatologist said it wasnt arthritis, it was growing pains. Referred to PT. -we werent super worried about the staring spells, and wanted to wait until the arthritis was sorted out to see neuro. The staring spells were coming more frequently. Her speech therapist asked us if wed ever had her evaluated for epilepsy, as she sees several kids with it, and our daughters episodes were scaring her. -We decided to get her in with neuro. It would be a two month wait.May 2018: -second opinion rheumatologist said there was obvious arthritis and sent her for a second round of steroid injections. Allergy had deemed the first reaction as a coincidence, not from the injections. -had an allergic reaction to the injections again. -she begins collapsing and falling pretty much non stop. To the point where PT and Speech therapists were suggesting a helmet because she wasnt catching herself when she fell.June 2018: -steroid injections failed -our first appointment with PT. PT noticed several left side deficits, severe balance issues (that were worsening), and wrote a letter to neuro suggesting an MRI be done. -woke up soaking wet, dripping in urine, and her urine was brown. Took her to the ER, ER noted it was brown but testing was normal, and she was well hydrated. -had an episode where myself and her speech therapist were present. Eyes glazed over and she started walking around like she was drunk. She became delirious. Then that turned into manic aggression (totally out of character). It lasted 20 minutes start to finish, ended with several staring spells. Speech therapist wanted to call an ambulance. 4-5 minutes later, she was completely back to normal. Took her to the ER where they said it was behavioral. I insisted they call neuro, who said it sounded like worsening seizure activity and scheduled an EEG for the next month. -pediatrician urged us to go to a different childrens hospital and demand an MRI. CT showed a small arachnoid cyst, MRI was clean. Her left side reflexes were slow, and she had a positive babinski reflex on left foot. -lost gross motor skills like squatting or standing up without using hands. Could no longer identify letters, though she had been able to since before 2. -discharged after a negative EEG, but nothing happened while she was hooked up. Told us to get video. -balance continued to deteriorate, along with left side deficits. -got videos of staring spells, neurologist said that it could be seizures or it could be sensory. She passed sensory tests with flying colors, OT said it was highly unlikely to be sensory. Neuro told us to go to a different hospital. -things calmed down for about 3 weeks.July 2018: -PT started noticing balance issues worsening again, she wouldnt catch herself when she fell or even try to. Began falling 2-3 dozen times a day. -she began dropping. Like a robot running and then its power source dying. My husband and I would have to sprint and throw pillows or our hands under her head to keep it from hitting the floor. We couldnt be more than a few feet from her. She would collapse, lay there for 10-20 seconds in a haze, and then sit up. -July 19th she told us her head hurt. A few minutes later, she looked out of it. I pulled out my phone because it mimicked the look when she had the episode of delirium. She began stumbling, so I pulled her onto my lap. She began aggressively rubbing her face and making weird faces. Her body then began to jerk/shake. Lasted 20 seconds. When it stopped, she continued to lay down, still, with her eyes glossed over. Her urine was brown again. -pediatrician sent us to ER. Admitting doctor said it was a tonic clonic seizure based on the video. Was attached to a vEEG for 9 hours, nothing happened. EEG was clear. Doctors said it was behavioral and released her from further neurological care. said there was nothing wrong with her. They called her speech therapist who was livid, as she had been watching her deteriorate right along with us. I needed backup since the doctors were blowing me off. Doctors told speech therapist it was behavioral and from sleep deprivation. But she slept 14 hours a night. -as month goes on, shes dropping and having staring spells non stop. -PT says nothing about daughters exam makes sense. Her balance is awful and deteriorating when walking, standing, crawling, kneeling, but she can jump. Shes developmentally advanced so it doesnt seem lime it could be a developmental issue. Shes also watching my daughter turn into a shell of herself and is begging doctors to do something. -MRI of knees and hips was ordered by new rheumy after worsening gait issues. MRI showed a healing stress fracture in the knee, along with bone marrow edema (with no trauma to explain it) -went limp on a ride at six flags and her eyes rolled to the back of her head for a full 2 minutes. -went to playground and she was climbing one of those coils. Body went limp and she fell 5 feet. I caught her and set her down while her arms twitched and she was unresponsive. Slept for several hours after, and took several minutes of shaking to wake up.August 2018: -basically everything continued with no answers from anyone.October 2018: -a 3 day inpatient EEG was scheduled and nothing happened. I mentioned to the doctors that it looked like a mass was growing on her legs and they didnt look. Sent us home. -pediatrician saw the masses and sent us to orthopedic surgeon. -the muscles in her left knee began to atrophy, despite her being crazy 24/7. She never sits still and is always jumping/climbing/running. Orthopedic surgeon said it was definitely neurological, sent us to a new neuro. The atrophy was so bad we were approaching loss of mobility. She still cant walk for more than 1-2 minutes at this point. -atrophy worsens until November. Other symptoms start to go away.November 2018: -started methotrexate injections for the JIA.January 2019: 3 years old. -urine began to darken again. -symptoms started popping up mildly. -had episodes where shed scream and rub her legs manically saying bees were attacking her. She did it both while we were there, and when we werent. I watched her do it on the baby monitor in the middle of the night. -neuro ordered MRI of spine. Normal. -on jan 16th, I heard noises in her room. I looked on monitor and she was sitting and swaying in her bed. I got to her bed to put her back down and by then, she was jerking. I tried to get her attention but she was unresponsive and eyes were glazed over. -I pulled her onto my lap, where she remained out of it. Her body was jerking, and her right leg started convulsing like it was on a washing machine. Once the jerking slowed, I asked her to point out her nose and mouth. She failed but thought she did it. I put her back to sleep, where she remained restless. Her urine was normal again 2 days later. -urine brown again on Jan 25th. Had a staring spell at a birthday party and was unresponsive for 30 seconds. Fell asleep in the car 10 minutes later, slept for 45 minutes, and then woke up screaming. Continued to scream for almost an hour. Urine was clear again a few days later. -Neuro tested for porphyria. Corproporphyria level was 2.5x adults high normal but said it wasnt high enough to be porphyria. No pediatric reference ranges exist.February 2019: -fingers started severely pruning and turning white in just a few minutes, while her sisters hands (who was 1.5) were completely normal. -throughout all of this, little bite/pimple like bumps showed up on face/neck/joints. They come and go. In February, they got bad. No fleas, no bugs, always accompanied other symptoms.March 2019: -GI said that while shes tall, shes short based on how tall she should be since Im 510 and husband is 64. Wanted to run tests. Thinks theres a larger autoimmune disease at play. -genetics said that something is definitely wrong, doctors needs to coordinate. Said porphyria test could have been deteriorated because it sample taken at home and exposed to light in the car. Said hes concerned by the progression and created a team of doctors to evaluate her case. Was afraid it was possibly life threatening. -testing was planned for summer when she began showing symptoms again. She remained asymptomatic.September 2019: -things remained calm, arthritis was under control. -began flaring in both knees and both ankles. -staring spells, balance issues, and not catching herself came back.October 2019: -things are worsening again. -left ankle is atrophying. Neuro wont call me back. -PT is concerned she wont be able to walk soon because the stuff that atrophied last year has never come back. She still cant walk more than a few minutes without collapsing. Sleeping 13 hours a night. Is complaining of pain and isnt eating. -preschool teachers reporting odd behavior and lots of collapsing. -most recently broke her wrist because she fell down the stairs and didnt try to catch herself. She landed on face and chest, with her arm against her chest. -ETA: her urine was brown again this morning for the first time since spring.Any ideas? Weve been to four childrens hospitals and will be pursuing new ones when we move in February. Im so scared for my daughter and still cant understand the lack of concern by the doctors weve seen. I dont want my daughter to suffer anymore and I dont know what else I can do.Thank you so much.

Output: If a second opinion is needed on this comment, I 100% agree with this. OP is free to try and ask the reddit community out of pure desperation, but be careful of lay comments, even from physicians who aren't experts in OP's child's care.

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: 3.5f with mystery illness 4 childrens hospitals and 14 specialists cant diagnoseThis is going to be so, so, so long and Im so sorry. But we dont know what else to do. Ive tried to compress it the best I could. 3f with medical mystery.First year of life: -couldnt latch until 2 months old -refused all food, in all forms. -up every 20 minutes every single night, wouldnt nap longer than 30. -had newborn shakes that stuck around a year old. -consistently has BM 60-70% mucus, and majority of time was green.February 2017(1 year old): -staring spells began -CT at hospital was clean, sent us to neuro. -EEG performed, no episodes happened, clean. -lost all of the words she had and remained non verbal, despite starting speech therapy at 18 months, until over 2.Eventually they went away after a few months. Doc said absence seizures are harmless and not to be concerned. Released us from his care.June 2017: 16 months old. -woke up and couldnt walk. Screamed when weight put on leg. Took to urgent care. Urgent care ran labs and found a sed rate of 44. Referred us to an orthopedic surgeon. Orthopedic surgeon did treatment for transient synovitis. When it became clear that wasnt the cause, sent us to rheumatology.August 2017: -diagnosed with Oligoarticular JIA (right knee only at this point). -started on naproxen.November 2017: -first steroid injection. Kenalog into right knee. -two days later, woke up screaming and manically itching legs. Hives sprouted. Face swelled, eyes became black, hives all over neck and face. Started wheezing and gagging, rushed her to the ER. ER said it was an anxiety attack from the itching, not anaphylaxis. -steroid injection worked for about two months.Spring 2018 (2 years old): -staring spells started creeping back. -swelling in both knees was coming and going. She was in extreme pain and couldnt walk more than a few feet. Rheumatologist said it wasnt arthritis, it was growing pains. Referred to PT. -we werent super worried about the staring spells, and wanted to wait until the arthritis was sorted out to see neuro. The staring spells were coming more frequently. Her speech therapist asked us if wed ever had her evaluated for epilepsy, as she sees several kids with it, and our daughters episodes were scaring her. -We decided to get her in with neuro. It would be a two month wait.May 2018: -second opinion rheumatologist said there was obvious arthritis and sent her for a second round of steroid injections. Allergy had deemed the first reaction as a coincidence, not from the injections. -had an allergic reaction to the injections again. -she begins collapsing and falling pretty much non stop. To the point where PT and Speech therapists were suggesting a helmet because she wasnt catching herself when she fell.June 2018: -steroid injections failed -our first appointment with PT. PT noticed several left side deficits, severe balance issues (that were worsening), and wrote a letter to neuro suggesting an MRI be done. -woke up soaking wet, dripping in urine, and her urine was brown. Took her to the ER, ER noted it was brown but testing was normal, and she was well hydrated. -had an episode where myself and her speech therapist were present. Eyes glazed over and she started walking around like she was drunk. She became delirious. Then that turned into manic aggression (totally out of character). It lasted 20 minutes start to finish, ended with several staring spells. Speech therapist wanted to call an ambulance. 4-5 minutes later, she was completely back to normal. Took her to the ER where they said it was behavioral. I insisted they call neuro, who said it sounded like worsening seizure activity and scheduled an EEG for the next month. -pediatrician urged us to go to a different childrens hospital and demand an MRI. CT showed a small arachnoid cyst, MRI was clean. Her left side reflexes were slow, and she had a positive babinski reflex on left foot. -lost gross motor skills like squatting or standing up without using hands. Could no longer identify letters, though she had been able to since before 2. -discharged after a negative EEG, but nothing happened while she was hooked up. Told us to get video. -balance continued to deteriorate, along with left side deficits. -got videos of staring spells, neurologist said that it could be seizures or it could be sensory. She passed sensory tests with flying colors, OT said it was highly unlikely to be sensory. Neuro told us to go to a different hospital. -things calmed down for about 3 weeks.July 2018: -PT started noticing balance issues worsening again, she wouldnt catch herself when she fell or even try to. Began falling 2-3 dozen times a day. -she began dropping. Like a robot running and then its power source dying. My husband and I would have to sprint and throw pillows or our hands under her head to keep it from hitting the floor. We couldnt be more than a few feet from her. She would collapse, lay there for 10-20 seconds in a haze, and then sit up. -July 19th she told us her head hurt. A few minutes later, she looked out of it. I pulled out my phone because it mimicked the look when she had the episode of delirium. She began stumbling, so I pulled her onto my lap. She began aggressively rubbing her face and making weird faces. Her body then began to jerk/shake. Lasted 20 seconds. When it stopped, she continued to lay down, still, with her eyes glossed over. Her urine was brown again. -pediatrician sent us to ER. Admitting doctor said it was a tonic clonic seizure based on the video. Was attached to a vEEG for 9 hours, nothing happened. EEG was clear. Doctors said it was behavioral and released her from further neurological care. said there was nothing wrong with her. They called her speech therapist who was livid, as she had been watching her deteriorate right along with us. I needed backup since the doctors were blowing me off. Doctors told speech therapist it was behavioral and from sleep deprivation. But she slept 14 hours a night. -as month goes on, shes dropping and having staring spells non stop. -PT says nothing about daughters exam makes sense. Her balance is awful and deteriorating when walking, standing, crawling, kneeling, but she can jump. Shes developmentally advanced so it doesnt seem lime it could be a developmental issue. Shes also watching my daughter turn into a shell of herself and is begging doctors to do something. -MRI of knees and hips was ordered by new rheumy after worsening gait issues. MRI showed a healing stress fracture in the knee, along with bone marrow edema (with no trauma to explain it) -went limp on a ride at six flags and her eyes rolled to the back of her head for a full 2 minutes. -went to playground and she was climbing one of those coils. Body went limp and she fell 5 feet. I caught her and set her down while her arms twitched and she was unresponsive. Slept for several hours after, and took several minutes of shaking to wake up.August 2018: -basically everything continued with no answers from anyone.October 2018: -a 3 day inpatient EEG was scheduled and nothing happened. I mentioned to the doctors that it looked like a mass was growing on her legs and they didnt look. Sent us home. -pediatrician saw the masses and sent us to orthopedic surgeon. -the muscles in her left knee began to atrophy, despite her being crazy 24/7. She never sits still and is always jumping/climbing/running. Orthopedic surgeon said it was definitely neurological, sent us to a new neuro. The atrophy was so bad we were approaching loss of mobility. She still cant walk for more than 1-2 minutes at this point. -atrophy worsens until November. Other symptoms start to go away.November 2018: -started methotrexate injections for the JIA.January 2019: 3 years old. -urine began to darken again. -symptoms started popping up mildly. -had episodes where shed scream and rub her legs manically saying bees were attacking her. She did it both while we were there, and when we werent. I watched her do it on the baby monitor in the middle of the night. -neuro ordered MRI of spine. Normal. -on jan 16th, I heard noises in her room. I looked on monitor and she was sitting and swaying in her bed. I got to her bed to put her back down and by then, she was jerking. I tried to get her attention but she was unresponsive and eyes were glazed over. -I pulled her onto my lap, where she remained out of it. Her body was jerking, and her right leg started convulsing like it was on a washing machine. Once the jerking slowed, I asked her to point out her nose and mouth. She failed but thought she did it. I put her back to sleep, where she remained restless. Her urine was normal again 2 days later. -urine brown again on Jan 25th. Had a staring spell at a birthday party and was unresponsive for 30 seconds. Fell asleep in the car 10 minutes later, slept for 45 minutes, and then woke up screaming. Continued to scream for almost an hour. Urine was clear again a few days later. -Neuro tested for porphyria. Corproporphyria level was 2.5x adults high normal but said it wasnt high enough to be porphyria. No pediatric reference ranges exist.February 2019: -fingers started severely pruning and turning white in just a few minutes, while her sisters hands (who was 1.5) were completely normal. -throughout all of this, little bite/pimple like bumps showed up on face/neck/joints. They come and go. In February, they got bad. No fleas, no bugs, always accompanied other symptoms.March 2019: -GI said that while shes tall, shes short based on how tall she should be since Im 510 and husband is 64. Wanted to run tests. Thinks theres a larger autoimmune disease at play. -genetics said that something is definitely wrong, doctors needs to coordinate. Said porphyria test could have been deteriorated because it sample taken at home and exposed to light in the car. Said hes concerned by the progression and created a team of doctors to evaluate her case. Was afraid it was possibly life threatening. -testing was planned for summer when she began showing symptoms again. She remained asymptomatic.September 2019: -things remained calm, arthritis was under control. -began flaring in both knees and both ankles. -staring spells, balance issues, and not catching herself came back.October 2019: -things are worsening again. -left ankle is atrophying. Neuro wont call me back. -PT is concerned she wont be able to walk soon because the stuff that atrophied last year has never come back. She still cant walk more than a few minutes without collapsing. Sleeping 13 hours a night. Is complaining of pain and isnt eating. -preschool teachers reporting odd behavior and lots of collapsing. -most recently broke her wrist because she fell down the stairs and didnt try to catch herself. She landed on face and chest, with her arm against her chest. -ETA: her urine was brown again this morning for the first time since spring.Any ideas? Weve been to four childrens hospitals and will be pursuing new ones when we move in February. Im so scared for my daughter and still cant understand the lack of concern by the doctors weve seen. I dont want my daughter to suffer anymore and I dont know what else I can do.Thank you so much.. ### Response: If a second opinion is needed on this comment, I 100% agree with this. OP is free to try and ask the reddit community out of pure desperation, but be careful of lay comments, even from physicians who aren't experts in OP's child's care..


Instruction: In my opinion Rasmussen would've shown up on an EEG or Scan, as the episodes are lasting a while and the activity of the inflammation would probably have been detected, though it's not impossible. I don't see how this goes in line with the arthritis, the stress fracture indicates that the loss of function and pain should not be purely neurological, maybe there are 2 problems going on simultaneously.I feel that you're a bit lost with doctors who don't do anything. So I'll suggest things to do by yourself:start a detailed diary, try to recall everything, every doctor's visit, result, try and collect the imaging done, lab results. But also start recording symptoms like ataxia, seizures, pain, atrophy. Every day. Also note any environmental changes that might occur shortly before episodes. This should include nutrition, but also stress, long exposure to sun, noise, physical activity. Get videos if you can.buy urine test strips, check her urine when it's normal 2-3 times, then when it gets dark. Check for blood, proteins, sugar. If you can, contact urine when it's brown in a clean jar and have your doctor send it to lab.if you have access to it and feel comfortable, also check blood sugar in normal and episode conditions. Again, note it done carefullyconsider to get psychological evaluation and counselling. Not only are you going through a very difficult situation, you will also avoid people saying that's only behaviour, and you're not willing to accept it. I'm not saying it is, but by acknowledging it a possibility, you rule out one more thing.consider changes in nutrition. Observe if anything changes. Might work, might not. Changes may include protein level, fat level, sugar level, etc.Then, what to do while relying on doctors:I agree with getting a second MRI. One usually isn't enough. It needs 2 to notice changes.did you get a check of the peripheral nerve system? I'd ask the neuro to check that. If they don't call back, they're probably out of ideas. Hey a new one.Get a general ultrasound of the organs.get blood test of porphyrines in normal and episode conditions.get liver and kidney blood test in normal and episode conditionsreach out to get metabolic diseases checked, like fatty acid issues, glycogen issues. Try also getting genetical analysis. I don't know about your financial situation, if you're located in usa and they don't do those, consider a visit in a different country. We have a whole ward here for diagnosis. Try reaching out to mayo or Cleveland.consider reaching out to help groups for genetic or rare diseases. They often have valuable contacts and ideas. https://www.globalrarediseasecommission.com/Report/tracks/track-1.htmlI wish you all the best!

Output: Posts by unflaired users that claim legitimacy by virtue of professional medical experience are not allowed.If you are a medical professional who wishes to become a verified contributor to this subreddit, please message the moderators with a link to a picture of your medical ID, student ID, diploma, or other form of verification. Imgur.com is convenient, but you can host anywhere. Please block out personal information, such as your name and picture. You must include your reddit username in the photo!We do not accept digital forms of identification.

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: In my opinion Rasmussen would've shown up on an EEG or Scan, as the episodes are lasting a while and the activity of the inflammation would probably have been detected, though it's not impossible. I don't see how this goes in line with the arthritis, the stress fracture indicates that the loss of function and pain should not be purely neurological, maybe there are 2 problems going on simultaneously.I feel that you're a bit lost with doctors who don't do anything. So I'll suggest things to do by yourself:start a detailed diary, try to recall everything, every doctor's visit, result, try and collect the imaging done, lab results. But also start recording symptoms like ataxia, seizures, pain, atrophy. Every day. Also note any environmental changes that might occur shortly before episodes. This should include nutrition, but also stress, long exposure to sun, noise, physical activity. Get videos if you can.buy urine test strips, check her urine when it's normal 2-3 times, then when it gets dark. Check for blood, proteins, sugar. If you can, contact urine when it's brown in a clean jar and have your doctor send it to lab.if you have access to it and feel comfortable, also check blood sugar in normal and episode conditions. Again, note it done carefullyconsider to get psychological evaluation and counselling. Not only are you going through a very difficult situation, you will also avoid people saying that's only behaviour, and you're not willing to accept it. I'm not saying it is, but by acknowledging it a possibility, you rule out one more thing.consider changes in nutrition. Observe if anything changes. Might work, might not. Changes may include protein level, fat level, sugar level, etc.Then, what to do while relying on doctors:I agree with getting a second MRI. One usually isn't enough. It needs 2 to notice changes.did you get a check of the peripheral nerve system? I'd ask the neuro to check that. If they don't call back, they're probably out of ideas. Hey a new one.Get a general ultrasound of the organs.get blood test of porphyrines in normal and episode conditions.get liver and kidney blood test in normal and episode conditionsreach out to get metabolic diseases checked, like fatty acid issues, glycogen issues. Try also getting genetical analysis. I don't know about your financial situation, if you're located in usa and they don't do those, consider a visit in a different country. We have a whole ward here for diagnosis. Try reaching out to mayo or Cleveland.consider reaching out to help groups for genetic or rare diseases. They often have valuable contacts and ideas. https://www.globalrarediseasecommission.com/Report/tracks/track-1.htmlI wish you all the best!. ### Response: Posts by unflaired users that claim legitimacy by virtue of professional medical experience are not allowed.If you are a medical professional who wishes to become a verified contributor to this subreddit, please message the moderators with a link to a picture of your medical ID, student ID, diploma, or other form of verification. Imgur.com is convenient, but you can host anywhere. Please block out personal information, such as your name and picture. You must include your reddit username in the photo!We do not accept digital forms of identification..


Instruction: I would strongly recommend rainbow over ccf for pediatrics.

Output: So to make sure that I have the situation in a nutshell: 3.5 y/o female with progressive weakness, intermittent episodes of loss of tone that are not accompanied by EEG changes, intermittent episodes of darker urine in the morning, and a diagnosis of oligoarticular JIA. Please correct anything that I got incorrect and I have some clarifying questions.-what is the state of her motor function now? Can she run, climb a ladder on the playground, fatigue quickly like walking around a store?-do the weakness episodes seem intermittent, like lasting for a few hours to days, or are they every single day.-does she have unsteadiness when reaching for objects? Having her hand seem to stumble past a cup or fork for example?-does she have any drooping of her eyelids? It would be to the point where the black of the pupil is obscured by the lid or she has to lean her head back to look at you.-following steroid injections did any of her other symptoms seem to get better? the weakness and seizure like episodes.-any family history of children passing away or having major medical issues. Do you, your spouse, or the child's siblings have any medical issues?-any issues during the pregnancy or delivery? Did she have to go to the NICU for any reason?

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: I would strongly recommend rainbow over ccf for pediatrics.. ### Response: So to make sure that I have the situation in a nutshell: 3.5 y/o female with progressive weakness, intermittent episodes of loss of tone that are not accompanied by EEG changes, intermittent episodes of darker urine in the morning, and a diagnosis of oligoarticular JIA. Please correct anything that I got incorrect and I have some clarifying questions.-what is the state of her motor function now? Can she run, climb a ladder on the playground, fatigue quickly like walking around a store?-do the weakness episodes seem intermittent, like lasting for a few hours to days, or are they every single day.-does she have unsteadiness when reaching for objects? Having her hand seem to stumble past a cup or fork for example?-does she have any drooping of her eyelids? It would be to the point where the black of the pupil is obscured by the lid or she has to lean her head back to look at you.-following steroid injections did any of her other symptoms seem to get better? the weakness and seizure like episodes.-any family history of children passing away or having major medical issues. Do you, your spouse, or the child's siblings have any medical issues?-any issues during the pregnancy or delivery? Did she have to go to the NICU for any reason?.


Instruction: According to what I found online, Mount Sinai has the only genetic test for porphyria. Trust me, I had a couple hundred dollars ready to spend on the genetic testing but everyone I spoke to who was versed in this stuff said it wouldnt make a difference

Output: TF is going on in here? What is wrong with all of you people? None of you are physicians, I doubt even medical professionals, and even the "best" "written" comments in here are absolute drivel. You are NOT being helpful. You are torturing someone while stoking a House, MD type fantasy.Dear OP, I sympathize with you. Dealing with a sick kid is trying and tough and this awful thread is NOT useful to your mind state NOR your health.A problem I have noticed in my short career has been clear communications to patients. I highly doubt after 4 hospitals, 14 specialists, and however many other physicians and staff that no one has come up with a diagnosis. What does this mean? I bet at minimum you had multiple different teams with multiple different personnel working on your daughter's case. It's possible the primary team wasn't doing their damn job of synthesizing all of the specialists information into easy to understand information and presenting that information to you. Even when we don't "know" what's going on, I can still call something idiopathic (as in I don't know) or I can throw out a variety of possible causes in what we call a differential diagnosis.To everyone saying "gEt GEnEtIC tEsTiNG". That's not even how any of this works. Even if we were to use "genetic testing" this would only confirm the diagnosis, NOT LEAD US TO THE DIAGNOSIS. Even then it is absolutely unnecessary for treatment in this case. Genetic testing is useful when we are performing family planning or working on research on illnesses. To my knowledge, and I'm open to any updates, bread and butter medicine does not YET have the tools to use genetic testing in the fashion many of you seem to think exists.

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: According to what I found online, Mount Sinai has the only genetic test for porphyria. Trust me, I had a couple hundred dollars ready to spend on the genetic testing but everyone I spoke to who was versed in this stuff said it wouldnt make a difference. ### Response: TF is going on in here? What is wrong with all of you people? None of you are physicians, I doubt even medical professionals, and even the "best" "written" comments in here are absolute drivel. You are NOT being helpful. You are torturing someone while stoking a House, MD type fantasy.Dear OP, I sympathize with you. Dealing with a sick kid is trying and tough and this awful thread is NOT useful to your mind state NOR your health.A problem I have noticed in my short career has been clear communications to patients. I highly doubt after 4 hospitals, 14 specialists, and however many other physicians and staff that no one has come up with a diagnosis. What does this mean? I bet at minimum you had multiple different teams with multiple different personnel working on your daughter's case. It's possible the primary team wasn't doing their damn job of synthesizing all of the specialists information into easy to understand information and presenting that information to you. Even when we don't "know" what's going on, I can still call something idiopathic (as in I don't know) or I can throw out a variety of possible causes in what we call a differential diagnosis.To everyone saying "gEt GEnEtIC tEsTiNG". That's not even how any of this works. Even if we were to use "genetic testing" this would only confirm the diagnosis, NOT LEAD US TO THE DIAGNOSIS. Even then it is absolutely unnecessary for treatment in this case. Genetic testing is useful when we are performing family planning or working on research on illnesses. To my knowledge, and I'm open to any updates, bread and butter medicine does not YET have the tools to use genetic testing in the fashion many of you seem to think exists..


Instruction: Thats been our understanding. Genetic testing is like the final puzzle piece once all of the other testing is done, and narrows down the list of possible causes. The geneticist said there was a list about 30 things long that he thinks it could be, but wanted further testing before divulging them, which I get.We have seen 4 childrens hospitals but the specialists span. Weve seen 1 endocrinologist, 1 allergist, 4 neurologists, 3 rheumatologists (our new rheumy actually suggested another opinion since she was out of ideas too), 1 GI, 2 geneticists, 1 orthopedic surgeon, and 1 ophthalmologist. They were supposed to be coordinating on a team that diagnosis rare diseases, but when she remained asymptomatic, we held off. We didnt want to put her through anything more if the tests would be inconclusive, under the direction of the team. But red flags have been popping up over the past few months, and theres been a lack of response or a shrug. The atrophy was so bad in the knee last year that she could barely walk. The muscle/tissues/whatever it was never grew back, and she cant walk more than a few minutes. PT is concerned that with the loss of knee support, the ankle atrophy is going to be detrimental. Which is how I ended up here. Her pediatrician finally got neuro to call us and shell now be getting ultrasounds of both legs.I wanted to take a list to her doctor and say could it be any of these?Shes spent most of her life in constant pain, in doctors offices, and its just killing us. I want her to have a normal life, and if she cant, I just want to make it as pain free as possible.

Output: The most important thing I can recommend is finding a good PCP to make sure you have a medical home. That doctor should keep track of everything and keep the puzzle pieces together for you. I'm hoping that's already your pediatrician. From what you write, it seems like each specialist is stumped and is each trying to treat symptoms as they see it. Let's say we can't find what is going on, this is what we would be doing anyway. I say if things have been continuing to worsen, you may try another hospital system. I'm partial to Mayo, CHOP, and Children's National. On the other hand, you may have to consider that there isn't much to do but keep her comfortable. Palliative doctor's role are just that, keep people with chronic disease comfortable. That may include working with PTs, pain specialists, and whatever other tricks they have up there sleeves.

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Thats been our understanding. Genetic testing is like the final puzzle piece once all of the other testing is done, and narrows down the list of possible causes. The geneticist said there was a list about 30 things long that he thinks it could be, but wanted further testing before divulging them, which I get.We have seen 4 childrens hospitals but the specialists span. Weve seen 1 endocrinologist, 1 allergist, 4 neurologists, 3 rheumatologists (our new rheumy actually suggested another opinion since she was out of ideas too), 1 GI, 2 geneticists, 1 orthopedic surgeon, and 1 ophthalmologist. They were supposed to be coordinating on a team that diagnosis rare diseases, but when she remained asymptomatic, we held off. We didnt want to put her through anything more if the tests would be inconclusive, under the direction of the team. But red flags have been popping up over the past few months, and theres been a lack of response or a shrug. The atrophy was so bad in the knee last year that she could barely walk. The muscle/tissues/whatever it was never grew back, and she cant walk more than a few minutes. PT is concerned that with the loss of knee support, the ankle atrophy is going to be detrimental. Which is how I ended up here. Her pediatrician finally got neuro to call us and shell now be getting ultrasounds of both legs.I wanted to take a list to her doctor and say could it be any of these?Shes spent most of her life in constant pain, in doctors offices, and its just killing us. I want her to have a normal life, and if she cant, I just want to make it as pain free as possible.. ### Response: The most important thing I can recommend is finding a good PCP to make sure you have a medical home. That doctor should keep track of everything and keep the puzzle pieces together for you. I'm hoping that's already your pediatrician. From what you write, it seems like each specialist is stumped and is each trying to treat symptoms as they see it. Let's say we can't find what is going on, this is what we would be doing anyway. I say if things have been continuing to worsen, you may try another hospital system. I'm partial to Mayo, CHOP, and Children's National. On the other hand, you may have to consider that there isn't much to do but keep her comfortable. Palliative doctor's role are just that, keep people with chronic disease comfortable. That may include working with PTs, pain specialists, and whatever other tricks they have up there sleeves..


Instruction: 'm not a doctor. Along with a suggestion, I just want to say how sorry I am to hear about your family going through this. I know how terrible I feel when our daughter just has a cold.Because I'm not a doctor, I don't have a diagnosis to suggest, but instead I want to suggest that you start collecting data, lots of data, then find your most analytical friend(s) and get them looking at it. They don't have to be a doctor; they're more likely to work in science, technology, engineering, business or law.What I'm suggesting you collect is literally everything your daughter eats, drinks, does and where she goes, including basic nutritional information what she's eating and drinking - carbohydrates, fats, etc. The same stuff that they put in big letters on most food packages.Along with that, put in what symptoms she had and how bad they were; devise a rating for her day if nothing else, where "5" is "it was a terrible day" to "1" is "she barely had any symptoms at all."This is going to be a complete pain in the ass.If it's a metabolic problem, there's a chance you'll see something like "when she has a high-carb, low-fat diet, she has a bad day" or "when she has a lot of fat, she does great" or some other permutation.If it's somehow an environmental problem, then maybe you'll see that "when she stays at grandma's house she's better than when she sleeps at home" or "if she doesn't go to school, she's better" or "she played in the basement today and she's a wreck."The doctors are clearly missing something, and maybe with some analysis you can find some clues to point them in the right direction. You may have the problem that they've already made up their mind about her and there's no changing it; in that case, you also need new doctors.Best wishes.

Output: Posts by unflaired users that claim legitimacy by virtue of professional medical experience are not allowed.If you are a medical professional who wishes to become a verified contributor to this subreddit, please message the moderators with a link to a picture of your medical ID, student ID, diploma, or other form of verification. Imgur.com is convenient, but you can host anywhere. Please block out personal information, such as your name and picture. You must include your reddit username in the photo!We do not accept digital forms of identification.

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: 'm not a doctor. Along with a suggestion, I just want to say how sorry I am to hear about your family going through this. I know how terrible I feel when our daughter just has a cold.Because I'm not a doctor, I don't have a diagnosis to suggest, but instead I want to suggest that you start collecting data, lots of data, then find your most analytical friend(s) and get them looking at it. They don't have to be a doctor; they're more likely to work in science, technology, engineering, business or law.What I'm suggesting you collect is literally everything your daughter eats, drinks, does and where she goes, including basic nutritional information what she's eating and drinking - carbohydrates, fats, etc. The same stuff that they put in big letters on most food packages.Along with that, put in what symptoms she had and how bad they were; devise a rating for her day if nothing else, where "5" is "it was a terrible day" to "1" is "she barely had any symptoms at all."This is going to be a complete pain in the ass.If it's a metabolic problem, there's a chance you'll see something like "when she has a high-carb, low-fat diet, she has a bad day" or "when she has a lot of fat, she does great" or some other permutation.If it's somehow an environmental problem, then maybe you'll see that "when she stays at grandma's house she's better than when she sleeps at home" or "if she doesn't go to school, she's better" or "she played in the basement today and she's a wreck."The doctors are clearly missing something, and maybe with some analysis you can find some clues to point them in the right direction. You may have the problem that they've already made up their mind about her and there's no changing it; in that case, you also need new doctors.Best wishes.. ### Response: Posts by unflaired users that claim legitimacy by virtue of professional medical experience are not allowed.If you are a medical professional who wishes to become a verified contributor to this subreddit, please message the moderators with a link to a picture of your medical ID, student ID, diploma, or other form of verification. Imgur.com is convenient, but you can host anywhere. Please block out personal information, such as your name and picture. You must include your reddit username in the photo!We do not accept digital forms of identification..


Instruction: Rash EVERYWHERE? Please helpHello, so a little background. I am a 23yo F. I suffer from an ED and weigh approximately 80lbs and am 51. I was diagnosed with MCTD, scleroderma, dermatomyositis, and a grocery list of other things, but I feel those are most prevalent to the issues I am having. I also use marijuana regularly as well as vape. So. I moved to MI from MO last summer. Ever since about.. November 2021 I have been having skin issues. The skin is incredibly dry, most spots opened and scabbed and now they hurt and itch. No lotion I have tried (10+) seem to help. I have it on my legs, arms, chest, hip, back, face, behind/in my ears. Ive never had my skin look like this while living in MO. I have seen my PC and I have a rheumatology appointment end of April. I dont even want to imagine how much more this will progress. Does anyone know what this is? Or how I can manage it to minimize symptoms? Im at a loss. Please help! Skin rash

Output: Images do not allow us to see the extent and appearance of the eruption. A diagnosis is not possible. You are medically complex and you need dermatology care. I work closely with many rheumatologists and we have mutual respect. I would not count on a rheumatologist to manage your skin.

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Rash EVERYWHERE? Please helpHello, so a little background. I am a 23yo F. I suffer from an ED and weigh approximately 80lbs and am 51. I was diagnosed with MCTD, scleroderma, dermatomyositis, and a grocery list of other things, but I feel those are most prevalent to the issues I am having. I also use marijuana regularly as well as vape. So. I moved to MI from MO last summer. Ever since about.. November 2021 I have been having skin issues. The skin is incredibly dry, most spots opened and scabbed and now they hurt and itch. No lotion I have tried (10+) seem to help. I have it on my legs, arms, chest, hip, back, face, behind/in my ears. Ive never had my skin look like this while living in MO. I have seen my PC and I have a rheumatology appointment end of April. I dont even want to imagine how much more this will progress. Does anyone know what this is? Or how I can manage it to minimize symptoms? Im at a loss. Please help! Skin rash. ### Response: Images do not allow us to see the extent and appearance of the eruption. A diagnosis is not possible. You are medically complex and you need dermatology care. I work closely with many rheumatologists and we have mutual respect. I would not count on a rheumatologist to manage your skin..


Instruction: What does high glucose in a CSF mean?28, Female, T1D 14 years, 59 165 lbs. I have upper extremity weakness in my legs and arms, worsening over the last year. Cant walk up stairs, all my tests come back inconclusive including genetic testing and nerve (I mean literally I have had an ENTIRE work up- MRIs, X-rays, blood work, neurology, spine clinic, rheumatology) so Im left with getting a triple muscle biopsy and had a spinal tap today. The only result that came from that was high glucose CSF and I cant find anything about what that signifies versus the low glucose.ETA: additional test results just came back showing high wbc and rbc in the fluid.

Output: Generally we're looking for low glucose in the CSF, as that's a sign that bacteria may be in there. There's usually a ratio between CSF and serum glucose (CSF is about 60% of serum), so I'd wonder if your serum glucose was just on the higher end when you got the LP done due to your T1DM.

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: What does high glucose in a CSF mean?28, Female, T1D 14 years, 59 165 lbs. I have upper extremity weakness in my legs and arms, worsening over the last year. Cant walk up stairs, all my tests come back inconclusive including genetic testing and nerve (I mean literally I have had an ENTIRE work up- MRIs, X-rays, blood work, neurology, spine clinic, rheumatology) so Im left with getting a triple muscle biopsy and had a spinal tap today. The only result that came from that was high glucose CSF and I cant find anything about what that signifies versus the low glucose.ETA: additional test results just came back showing high wbc and rbc in the fluid.. ### Response: Generally we're looking for low glucose in the CSF, as that's a sign that bacteria may be in there. There's usually a ratio between CSF and serum glucose (CSF is about 60% of serum), so I'd wonder if your serum glucose was just on the higher end when you got the LP done due to your T1DM..


Instruction: Good to know. Im sure Ill hear back Monday, but additionally seeing the high WBC + RBC in the fluid made me nervous.

Output: How high for each?Reply Wbc 13, rbc 16

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Good to know. Im sure Ill hear back Monday, but additionally seeing the high WBC + RBC in the fluid made me nervous.. ### Response: How high for each?Reply Wbc 13, rbc 16.


Instruction: My Arms Are Turning Blue, Please HelpTL;DR: I removed lab values, as they are no longer the most recent. I have normal skin underneath, to my knowledge, my skin just sheds blue - unaware as to why. I have neurologic and gastric issues, like already stated in edit one, so no need to retouch on that, just briefed about a new procedure I didnt know was going to be requested. I will update about the (dead) blue skin, the literal reason for the post in the first place, if ever discovered.No confirmed, or believed hematologic issues. I only shed blue skin? My skin recently came off, and its pink underneath like it used to be, for some reason it just comes off in blue heaps (random dead skin, I assume, but unsure as to why the color is blue). The veins are extremely bright, but thats about it underneath, I believe. I already have eczema/atopic dermatitis, I know that, but this still confuses me because it doesnt appear to be that. I plan on seeing my derm soon just in case.I thought Id add this information, only to discuss how thorough Ive tried to be, but none of which is the cause for it either. I have a whole host of neurological issues, migraines and OC as listed below, among other newly diagnosed issues, like tremors and possible nocturnal seizures (Im epileptic). Im going to be getting a VEEG done, as ordered by the newly epileptologist I just began seeing. My medications are being readjusted, and a hospital is the only safe way to do so.I also have gastric issues, like I said below.Bottom line, thank you all. If I ever figure out why Im shedding blue skin, Ill make sure to share.TL;DR: I took all suggestions as best I could. I was denied by hematology, rheumatology found no issue despite only slightly abnormal values (mainly NOT severe muscular degeneration that Ive now been made aware of, it didnt alarm him like I said), EKG and EEG requested are both normal. There have been newly diagnosed neurologic issues, but easily fixed with botox.Edit: Thank you to everyone who suggested various things that it could possibly be, and please know that I took your advice, both from this post, and the follow-up one I made awhile back, that Ive since deleted. Here is the in-depth follow-up that some had asked me to provide.Hematology: I was denied by two different hospitals, even though I had a thorough PCP referral, as both places said my issues werent possibly blood related. There were no other hematologic options in my area, so I decided I needed to move on from hematology completely, because I wasnt getting anywhere. Ive not been tested for any hemoglobinopathy as suggested on this post, or any other blood-related issue due to this.Rheumatology: This was the major one recommended on my other post, and I actually just went there a couple days ago after a successful (and surprisingly quick) referral. Despite my leg pain, color-changes and other various issues discussed below, the doctor doesnt believe its anything rheumatology related, either. A physician on the other post I had made, suggested getting a work-up and asking about APS (antiphospholipid syndrome), but I was only tested for possible muscle diseases to my knowledge. I havent received those results yet, but Im sure theyll be normal. Well see.Ive also recently had a redo of my heart echocardiogram done (which came out normal) because the last one was poorly imaged. My most recent (required) EEG was completely normal, but Ive been put on yet another epilepsy medication, unfortunately.The only thing Ive been diagnosed with, since when this was originally posted, has been migraines and occipital neuralgia, which I now receive injections for.Original Post:25F, 185lbs, white, non-smoker, non-drinker.TL;DR: major breathing difficulty, chest discomfort/pressure, (mainly) left leg heaviness/throbbing, odd blood consistency and possibly abnormal values.Hello, Im in quite a predicament. Ive now been labeled a zebra by a vein specialist, because no one can figure out the reasoning behind my current issues.For context, this is now seems to be a somewhat progressive issue, as different symptoms have arisen as time has gone on. I began not being able to breathe well sometime last year, but every time medical professionals take my O2 stats, it never goes below 98. However, its becoming increasingly harder within these last few months, especially taking deep breaths. After having some bad reflux episodes, I was told I had GERD, and then given some medication. However, Ive now been hospitalized twice for my severe breathing issues, both occasions in September, after my GERD diagnosis (and its well controlled/no reflux episodes), so I have a feeling its definitely a separate issue. My chest also feels as if theres a crushing force on it very frequently.I started getting severe leg pain, that made my (especially my left) calves feel heavy one minute, almost like carrying around tree trunks, and then pulsing/throbbing the next. I was scanned for blood clots in my left leg while at the ER, and everything came back normal. The same day I was scanned, a nurse noticed my left arm being a vibrant blue. The ER doctor then pointed out the fact hed noticed that it was also on my right arm at that point, as well. Ultrasounds have recently been done on both my arms, but those results also came back normal.My blood is now starting to be impacted as well I believe, as its appearing to have trouble stopping or clotting quickly. Im not sure if this issue is related to the color-changing or not. My blood will borderline gush out after blood draws/IV site wounds. My RBC has also been consistently high for awhile now, and my MCH and MCV are now dropping again. The values being abnormal arent by much or extremely significant, but Im not sure the reason for the abnormality either (again, reiterating the fact that Im not sure if its connected to the color-changing or not).

Output: Except for the bleeding, you're pretty much describing a sickle cell disease crisis. Did you ever have a hemoglobin electrophoresis test?EDIT: I saw the conversation further below. Some common traits for hemoglobinopathies are indeed low hemoglobin, high RBC and low MCV. I'd say you could catch about 80% based on these values (but then, electrophoresis is still required for final diagnosis, or DNA testing for alpha thalassemias). Anemias can be compensated for with high RBC counts. MCV, as in sickle cell anemia, may be normal since the sickeling occurs in the microcirculation at low PO2s.EDIT2:I'll give a short summary of things written below (including personal interpretation of what was written) for any physicians currently tuning in;Summary28F, non smoker, non drinker, not on birth controlFatigueSevere leg pain (excruciating), pulsing, throbbingSevere pain 'everywhere', especially shoulder bladesBlue discoloration in armsOxygenation is fineBoth arms and legs were scanned but no clots were foundNo history for excessive bleeding during surgery or tooth extractionsPeriods were heavy in the past, but no longerPictures could be interpreted as deep-tissue bleeding/bruising, but no discoloration has been described (cave too recent)No weight loss, fevers, infectionsLiver and spleen are normalLabNo full lab results on hemostasis (e.g. PT, APTT, Fibrinogen)Initially high RGB, normal MCV, hemoglobin. Now all three are decliningNormal d-dimer, normal plateletsNo hemoglobin electrophoresis was donePossibilities (in no particular order)(Acquired) Bleeding disorderThrombosisSickle-Hb C diseaseAnxiety...?

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: My Arms Are Turning Blue, Please HelpTL;DR: I removed lab values, as they are no longer the most recent. I have normal skin underneath, to my knowledge, my skin just sheds blue - unaware as to why. I have neurologic and gastric issues, like already stated in edit one, so no need to retouch on that, just briefed about a new procedure I didnt know was going to be requested. I will update about the (dead) blue skin, the literal reason for the post in the first place, if ever discovered.No confirmed, or believed hematologic issues. I only shed blue skin? My skin recently came off, and its pink underneath like it used to be, for some reason it just comes off in blue heaps (random dead skin, I assume, but unsure as to why the color is blue). The veins are extremely bright, but thats about it underneath, I believe. I already have eczema/atopic dermatitis, I know that, but this still confuses me because it doesnt appear to be that. I plan on seeing my derm soon just in case.I thought Id add this information, only to discuss how thorough Ive tried to be, but none of which is the cause for it either. I have a whole host of neurological issues, migraines and OC as listed below, among other newly diagnosed issues, like tremors and possible nocturnal seizures (Im epileptic). Im going to be getting a VEEG done, as ordered by the newly epileptologist I just began seeing. My medications are being readjusted, and a hospital is the only safe way to do so.I also have gastric issues, like I said below.Bottom line, thank you all. If I ever figure out why Im shedding blue skin, Ill make sure to share.TL;DR: I took all suggestions as best I could. I was denied by hematology, rheumatology found no issue despite only slightly abnormal values (mainly NOT severe muscular degeneration that Ive now been made aware of, it didnt alarm him like I said), EKG and EEG requested are both normal. There have been newly diagnosed neurologic issues, but easily fixed with botox.Edit: Thank you to everyone who suggested various things that it could possibly be, and please know that I took your advice, both from this post, and the follow-up one I made awhile back, that Ive since deleted. Here is the in-depth follow-up that some had asked me to provide.Hematology: I was denied by two different hospitals, even though I had a thorough PCP referral, as both places said my issues werent possibly blood related. There were no other hematologic options in my area, so I decided I needed to move on from hematology completely, because I wasnt getting anywhere. Ive not been tested for any hemoglobinopathy as suggested on this post, or any other blood-related issue due to this.Rheumatology: This was the major one recommended on my other post, and I actually just went there a couple days ago after a successful (and surprisingly quick) referral. Despite my leg pain, color-changes and other various issues discussed below, the doctor doesnt believe its anything rheumatology related, either. A physician on the other post I had made, suggested getting a work-up and asking about APS (antiphospholipid syndrome), but I was only tested for possible muscle diseases to my knowledge. I havent received those results yet, but Im sure theyll be normal. Well see.Ive also recently had a redo of my heart echocardiogram done (which came out normal) because the last one was poorly imaged. My most recent (required) EEG was completely normal, but Ive been put on yet another epilepsy medication, unfortunately.The only thing Ive been diagnosed with, since when this was originally posted, has been migraines and occipital neuralgia, which I now receive injections for.Original Post:25F, 185lbs, white, non-smoker, non-drinker.TL;DR: major breathing difficulty, chest discomfort/pressure, (mainly) left leg heaviness/throbbing, odd blood consistency and possibly abnormal values.Hello, Im in quite a predicament. Ive now been labeled a zebra by a vein specialist, because no one can figure out the reasoning behind my current issues.For context, this is now seems to be a somewhat progressive issue, as different symptoms have arisen as time has gone on. I began not being able to breathe well sometime last year, but every time medical professionals take my O2 stats, it never goes below 98. However, its becoming increasingly harder within these last few months, especially taking deep breaths. After having some bad reflux episodes, I was told I had GERD, and then given some medication. However, Ive now been hospitalized twice for my severe breathing issues, both occasions in September, after my GERD diagnosis (and its well controlled/no reflux episodes), so I have a feeling its definitely a separate issue. My chest also feels as if theres a crushing force on it very frequently.I started getting severe leg pain, that made my (especially my left) calves feel heavy one minute, almost like carrying around tree trunks, and then pulsing/throbbing the next. I was scanned for blood clots in my left leg while at the ER, and everything came back normal. The same day I was scanned, a nurse noticed my left arm being a vibrant blue. The ER doctor then pointed out the fact hed noticed that it was also on my right arm at that point, as well. Ultrasounds have recently been done on both my arms, but those results also came back normal.My blood is now starting to be impacted as well I believe, as its appearing to have trouble stopping or clotting quickly. Im not sure if this issue is related to the color-changing or not. My blood will borderline gush out after blood draws/IV site wounds. My RBC has also been consistently high for awhile now, and my MCH and MCV are now dropping again. The values being abnormal arent by much or extremely significant, but Im not sure the reason for the abnormality either (again, reiterating the fact that Im not sure if its connected to the color-changing or not).. ### Response: Except for the bleeding, you're pretty much describing a sickle cell disease crisis. Did you ever have a hemoglobin electrophoresis test?EDIT: I saw the conversation further below. Some common traits for hemoglobinopathies are indeed low hemoglobin, high RBC and low MCV. I'd say you could catch about 80% based on these values (but then, electrophoresis is still required for final diagnosis, or DNA testing for alpha thalassemias). Anemias can be compensated for with high RBC counts. MCV, as in sickle cell anemia, may be normal since the sickeling occurs in the microcirculation at low PO2s.EDIT2:I'll give a short summary of things written below (including personal interpretation of what was written) for any physicians currently tuning in;Summary28F, non smoker, non drinker, not on birth controlFatigueSevere leg pain (excruciating), pulsing, throbbingSevere pain 'everywhere', especially shoulder bladesBlue discoloration in armsOxygenation is fineBoth arms and legs were scanned but no clots were foundNo history for excessive bleeding during surgery or tooth extractionsPeriods were heavy in the past, but no longerPictures could be interpreted as deep-tissue bleeding/bruising, but no discoloration has been described (cave too recent)No weight loss, fevers, infectionsLiver and spleen are normalLabNo full lab results on hemostasis (e.g. PT, APTT, Fibrinogen)Initially high RGB, normal MCV, hemoglobin. Now all three are decliningNormal d-dimer, normal plateletsNo hemoglobin electrophoresis was donePossibilities (in no particular order)(Acquired) Bleeding disorderThrombosisSickle-Hb C diseaseAnxiety...?.


Instruction: I have not, I dont even know what that is.

Output: No problem. Would you mind posting your history of values? Mainly hemoglobin, RBC, MCV

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: I have not, I dont even know what that is.. ### Response: No problem. Would you mind posting your history of values? Mainly hemoglobin, RBC, MCV.


Instruction: Sure! Im going to hit the hay first since its 6 AM here and I havent slept yet, but when I get up, Ill get my bloodwork out.How do you want me to write it out on here? Like the reference ranges, and then my results?

Output: Screenshots are fine too btw.Otherwise, maybe like so? Dates aren't crucial, just give an indication of how far apart (e.g. months between or hours). If there's a missing value in one of the labs, just put a '-' so the values stay aligned vertically.RBC [ref], x, x, x, x MCV [ref], x, x, -, xI'd update your original post, and we'll go from there.

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Sure! Im going to hit the hay first since its 6 AM here and I havent slept yet, but when I get up, Ill get my bloodwork out.How do you want me to write it out on here? Like the reference ranges, and then my results?. ### Response: Screenshots are fine too btw.Otherwise, maybe like so? Dates aren't crucial, just give an indication of how far apart (e.g. months between or hours). If there's a missing value in one of the labs, just put a '-' so the values stay aligned vertically.RBC [ref], x, x, x, x MCV [ref], x, x, -, xI'd update your original post, and we'll go from there..


Instruction: I updated it! I just separated it by the blood test, and it looks kind of chaotic I know, but I tried my best.Ill have to grab ahold of more of my bloodwork at my primarys office soon, so that theres not just three

Output: Hmm, these results neither confirm nor refute my first thought. But on seeing the photos they remind me more of deep-tissue bruises.Do they ever go away or change color at all? Was a tourniquet placed on your upper-right arm?Could you perhaps elaborate a bit on your bleeding history? Ever had any surgery or tooth extractions? Nose bleeds? How are your periods?Personally really looking forward to the comments of the hematologist.

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: I updated it! I just separated it by the blood test, and it looks kind of chaotic I know, but I tried my best.Ill have to grab ahold of more of my bloodwork at my primarys office soon, so that theres not just three. ### Response: Hmm, these results neither confirm nor refute my first thought. But on seeing the photos they remind me more of deep-tissue bruises.Do they ever go away or change color at all? Was a tourniquet placed on your upper-right arm?Could you perhaps elaborate a bit on your bleeding history? Ever had any surgery or tooth extractions? Nose bleeds? How are your periods?Personally really looking forward to the comments of the hematologist..


Instruction: Can alpha thalassemias present with normal hemoglobin, but chronically low ferritin? My hematologist suggested my hemoglobin was normal because I burn through ferritin so quickly. Like OP, my specialists have all but thrown in the towel after four years of treatments (for a diagnosis that has now been thrown out - Von Willebrands 2M).I have had high RBC and low MCV, normal HCT and HGB, low B12 and D (take weekly injection of the former, high dose oral supplement of the latter). Ive had two iron transfusions ~4 years ago. I can provide complete blood work for the last four years if that would help.

Output: Hemoglobinopathies (like thalassemias) produce red-cells that have a shorter life-span than regular 'normal' red cells. So yes, there is a high turnover and therefore higher demand of nutrients. However, there are other explanations as well. If you like further exploration I would suggest you make a new thread? Results from the last 4 years would give a tremendous head start.

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Can alpha thalassemias present with normal hemoglobin, but chronically low ferritin? My hematologist suggested my hemoglobin was normal because I burn through ferritin so quickly. Like OP, my specialists have all but thrown in the towel after four years of treatments (for a diagnosis that has now been thrown out - Von Willebrands 2M).I have had high RBC and low MCV, normal HCT and HGB, low B12 and D (take weekly injection of the former, high dose oral supplement of the latter). Ive had two iron transfusions ~4 years ago. I can provide complete blood work for the last four years if that would help.. ### Response: Hemoglobinopathies (like thalassemias) produce red-cells that have a shorter life-span than regular 'normal' red cells. So yes, there is a high turnover and therefore higher demand of nutrients. However, there are other explanations as well. If you like further exploration I would suggest you make a new thread? Results from the last 4 years would give a tremendous head start..


Instruction: I updated D-dimer and platelet results now that Im home to see my bloodwork. I apologize I keep replying, but since you made the list, I thought Id let you know, in case you end up not seeing it.

Output: Do you have a picture of your blue arms? Is it al over? Are the blue areas painful or itchy?

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: I updated D-dimer and platelet results now that Im home to see my bloodwork. I apologize I keep replying, but since you made the list, I thought Id let you know, in case you end up not seeing it.. ### Response: Do you have a picture of your blue arms? Is it al over? Are the blue areas painful or itchy?.


Instruction: Theres a small sliver, same area on both sides, that is my pale skin. The rest of my arms are completely blue. Im currently trying to link photos, but I still am in the process of deleting photos, so that my already filled up iCloud storage will allow me to actually create a link lol.

Output: Would be really useful to see a picture! (Once youve had some sleep)

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Theres a small sliver, same area on both sides, that is my pale skin. The rest of my arms are completely blue. Im currently trying to link photos, but I still am in the process of deleting photos, so that my already filled up iCloud storage will allow me to actually create a link lol.. ### Response: Would be really useful to see a picture! (Once youve had some sleep).


Instruction: Dont link through your iCloud to avoid being doxxed or anyone with nefarious intentions causing you more trouble.Edit: create an Imgur account (takes 2 seconds) and link

Output: Are you on any medications, otc stuff, supplements? Lots of exogenous substances can cause blue pigmentation (colloidal silver, amiodarone, minocycline to name a few).

Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Dont link through your iCloud to avoid being doxxed or anyone with nefarious intentions causing you more trouble.Edit: create an Imgur account (takes 2 seconds) and link. ### Response: Are you on any medications, otc stuff, supplements? Lots of exogenous substances can cause blue pigmentation (colloidal silver, amiodarone, minocycline to name a few)..