Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Please, please help...no one can figure out whats wrong and at my wits endI've posted here before and no one ever seems to answer but I'm getting so sick that I'm basically bed bound from pain.I'm a 32 yo woman, overweight at 280 lbs, diagnosed with Sjogren's, PCOS, and on these medicines:Metoprolol for tachycardia I've had since childhood Metformin for PCOS Spironolactone for low potassium I've had since childhood (used to have constant racing heart and passed out a lot as a kid because of low potassium) as well as PCOS Nuvigil for chronic fatigue Pilocarpine for Sjogren's dryness Doxepin for ribcage pain Rosuvastatin for high cholesterol Low dose naltrexone 3mg for chronic pain Trintellix for depressionA few years ago, like 5 years now, I was healthy and 125 lbs. Then I had my 2nd child, was about 180 after she was born, and developed PCOS. I could not lose weight and gained a little more and got to about 225.In Dec 2019, my psychiatrist put me on Trileptal for mood stability. About a month later, I started to develop pitting edema and severe low ribcage pain and then had absolutely zero appetite whatsoever. I went to the ER with grade 4 edema, severe low rib pain, and blood in my urine and bloody vaginal discharge. No sign of infection, no excess protein, nothing really out of the ordinary aside from GFR that would dip into the 50s before sometimes coming up again and blood. I did get low iron and potassium, needed iv potassium several times, but they could find nothing to easily explain symptoms. This goes on for nearly a year...I got up to 325 lbs even though I could barely eat or get out of bed. I truly thought I would die.I stopped taking my medicine when I couldn't eat, and noticed I felt worse after taking it again. I also felt worse if I exercised. So I stopped Trileptal and rested for about a month and slowly seemed to recover. Then my OBGYN found uterine polyps and I had surgery to remove them. The next month, my gallbladder was removed. The next month, I had surgery to "fix" my urethra since they thought maybe I was having urinary problems stemming from that.But I got better and tried to be okay mentally with the constant dismissals I got from so damn many docs before I finally got some help. It was extremely difficult and I suffered with health anxiety because of it but have done great with therapy. I even managed to get my weight down to 235 after starting exercise after being sure my kidneys were fine again at a consistent GFR over 110.Then a month ago, I got a very bad case of flu. The lower rib pain came back bad. I dismissed it as flu. Recovered from it, then had several days where every muscle in my body felt like it had been lifting heavy weights for days. Everything hurt, and doc said maybe mild myositis from flu. Then I noticed urinary changes. I normally have frequent urination, going a few times a night and usually at least every hour or more. No one can find a cause though. But suddenly not going at night at all and only going like 3 times in the day. Started having white flecks in urine sometimes and strong odor. Then urinalysis started showing blood in urine consistently. Then sharp pains in urethra all the way to anus at times, which I'd had before as well. I have brown vaginal discharge too. A few days ago, I couldn't pee at all and was sent to the er. They can find no reason for my symptoms...nothing on ct, no bacteria in culture, no stones, no nothing. No one knows, but I had to have a foley catheter inserted (was very painful like stabbing) because I had retention and could not pee. Was sent home with it and had it removed next day and I was able to pee again but then developed pitting edema. It's currently grade 1. No cause can be found.I will add in case it is relevant, just before the flu, my pcm referred me to neurology for mris of head and spine and nerve conduction test. I've been having nerve pain for several months. Buzzing, tingling, numbness, shocks, in various places for sustained periods and sometimes just sudden and then goes away. She was thinking the lower rib cage pain may actually be nerve pain since it feels burning at times like the burning headaches in the base of my skull and my neck. My thyroid is sometimes hypo but usually fine, my b12 and magnesium are normal, and I do not have any markers of diabetes other than just being fat currently. My grandma has MS, which she believes was healed by Jesus, but I know enough about it to know that's what she's trying to rule out I'm pretty sure.Can anyone, please , give me some insight about what might be wrong with me? I'm in so much pain with the gnawing, burning pain in the bottom of my ribcage and the electric shock pains in my urethra and anus, and I am so scared of the fact I've got urinary bleeding, vaginal bleeding, and putting edema but no one knows what's up. I've seen rheumatology, nephrology, urology, obgyn, even was sent to a hematology oncologist as a hail-mary.I stay away from Googleing anything because for one, I have too many symptoms to easily fit in a search bar, and I know there's no good coming out of looking at it anyway. I have gotten better care since changing hospital systems after last time this happened, the urologist I saw kept insisting the blood in my urine was from my vagina even though I still had blood in my urine after a catheter was used to sample, and I e just had a really hard time getting docs to push to figure out what's wrong. It feels like since I don't appear to be imminently dying, and they dismiss my pain and exhaustion, no one sees a point in helping.So sorry for the long post but I'm just trying to give as much context as I can. Please let me know if you have any questions as I'm happy to answer.. ### Response: In the absence of objective findings on imaging and testing, it is possible that weight in itself can cause the multi-system problems that you have. Obesity unfortunately affects numerous organ systems in subtle ways initially..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Help interpreting liver testAge42Sex fHeight 54Weight190Race CaucasianDuration of complaint dates referenced on theLocationAny existing relevant medical issues? so many lol RA,hEDS,Endometriosis,Asthma,Current medications, Zoloft,Simbicort ,prednisone, alburtol,muscle relaxers ciplopram ? ,NambutoneALT 0 - 41 U/L 4/4/21 19 10/8/21 20 8/29/22 346 8/30/22 342 8/31/22 352 9/10/22 316 9/17/22 296AST 10 - 40 U/L 4/4/21 14 10/8/21 21 8/29/22 215 8/30/22 194 8/31/22 195 9/10/22 193 9/17/22 186. ### Response: You have active inflammation of your liver. Not sure what the cause is. Could be some autoimmune process, fatty liver, meds, supplements, etc. Favor the first two.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: ostive ANA test, titer of 1:320 and speckled pattern, but negative Connective tissue testI'm a 35 yo Caucasian female, 5'5 and 170 lbs (back to back pregnancies), I vape, I take Omeprazole and lyrica 200 mg daily. The lyrica is for seizures, not pain.Ok, so I just had a bunch of labs drawn, because I've been having numerous symptoms of an autoimmune disease. Chronic fatigue, mouth sores that will randomly show up, lots of head aches, severe random bouts of pain that show up in joint areas that debilitates me when they "flare up". Crippling anxiety, and depression is worsening. And lastly, a random rash that will spread across my cheeks and nose, and sometimes radiate into the tips of my ears.I had a positive ANA test, but the more specific tests showed that I was negative for connective tissue disorders like lupus, RA and sjogrens to name a few. Everything looked fine, and my doctor told me that I probably just have inflammation somewhere in my body.My questions are:. Could I still have something like lupus, even tho the CTD labs were negative, but ANA had all 3 parts show abnormal results? And, this isn't my first positive ANA test. It happened 6 years ago, but nothing further was looked into. Where do I go from here to get better answers? All these symptoms are debilitating my life.. ### Response: techincally you could still have something on the spectrum of connective tissue diseases with current antibodies negative, but +ANA are pretty common in the health population. best bet is probably continuous follow up with a single primary care doctor, and referral to whatever specialists they think best..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: They ended up referring me to an RA. This is the second time I've had a positive ANA test within 5 years. The speckled pattern is what's making me wonder. I have more of the symptoms of an autoimmune disease, than I don't have. I hit almost all symptoms of moderate lupus, without kidney problems, but I HAVE within the last year, had protein in my urine, but I was pregnant at that time. There's a lot going on I feel kinda dismissed by the doctor. It's almost their discretion to diagnose, because of symptoms and positive ANA alone. I've read on many medical documents that a negative anti ds is not absolute to not having an autoimmune disease. I've heard it's hard to get diagnosed, so hopefully the RA can give me some more definite answers, once I actually get in to see them :/. ### Response: lupus had a discrete diagnostic criteria, it might not be as discretionary as you think. unfortunately the symptoms of many rheumatological diseases overlap heavily with many non rheumatological conditions. best of luck..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: 6 year old dying from ARDS all labs are negativeHello, on March 15th my 6yr old son had a fever and cough. This continued through March 17th. He seemed fine the entirety of March 18th. On March 19th he started presenting with a full body light petechial rash and fevers. Appetite, fluid in take and behavior were all very normal. Would occasionally become sleepy with the fevers. Fevers would come down with Tylenol. Over the next two weeks the fevers became more frequent but were still easily treated with Tylenol. On March 31st he began to lose energy and didnt really want to get out of bed. On April 1st he started refused food and drink. The early hours of April 2nd he began vomiting. We had several appointments with his PCM, urgent care, and nurse telehealth during these two weeks. All advising its just something viral and should resolve on its own. After refusing food and drink and then vomiting we decided we couldnt wait the 24 hours to his next appointment and took him to the emergency room. He began requiring blow by O2 while sleeping from night one at the hospital. The petechial rash started to become severe in places where he had any medium to heavy pressure (blood pressure cuff, being held for accessing his port a cath). On April 4th he began needing supplemental o2, between 1.5-5L. After a week in the hospital he was diagnosed with a severe CMV vierma infection. He was started on gancylovir to treat on April 10th. After a few weeks of treatment his CMV levels have finally come down to the 100s (as of early this week). On 4/13 he was out on high flow o2 due to hypoxia. He continued to range in requirements of 15L-30L and 60%FIO2 -100% FIO2. We were advised his lungs would begin to heal as his cmv number declined which has clearly not been the case. On 5/1 he was rapid-ed to the ICU due to expected impending respiratory failure with hypoxia. In the icu he had episodes or high hr, blood pressure, and low O2. However, these episodes were short lived at the beginning and after they were over he would go back to his normal goofy self. Over the next 36 hours his episodes became longer and more frequent. He has a planned intubation set for May 3rd at 6am and a planned brohncoscopy set for May 3rd at 9am. Original plans were to begin attempting ex-intubation post procedure. However at approximately 3am on May 3rd he had an episode that did not resolve. He was placed on a ventilator which failed due to CO2 build up, oscillator was attempted and failed due to CO2 build up. He was then placed on bivalve ecmo on max pediatric settings. He remains on max ecmo settings to present day. He has since been diagnosed with ARDS. He has had an extensive infectious disease work up and rheumatology work up. Every test result has come back negative. Tests show high levels of inflammation. Doctors at our current hospital refuse to do a lung biopsy due to expected death during or as a direct result of the procedure. Please help. We are being told were reaching the end of our options here. We have a second opinion request put in with Boston Childrens Hospital but are willing to travel anywhere that may be able to help him. I can provide any and all test results you need to help and the team here is typically willing to run more with plausible explanation. He has a complex medical history as well be no full encompassing genetic diagnosis.He is currently on anti fungals, antivirals, and antibacterials. He also has a BMX drip for a diuretic. He is on several medications for sedation and pain management for ecmo.. ### Response: I am so sorry to hear about your son. I have a child about that age, and can't imagine.CMV is not a typical infection in someone with a healthy immune system, usually we see it with transplant or lymphoma but there can be congenital immune system problems that predispose to severe CMV. It can certainly cause all of the symptoms your son is showing including the petechial rash and severe pneumonitis leading to ARDS. It can affect nearly any organ.However CMV can also reactivate due to stress from other issues so it is difficult to say if this is the cause of his symptoms, or just a sign of how sick he is. While it is risky to do a lung biopsy in a person on venous ECMO, if there is no diagnosis within a week it is reasonable to proceed with doing this, with fairly good safety outcomes.https://pubmed.ncbi.nlm.nih.gov/27894766/The most important thing though is if the treating physicians think not only is it safe (there are other issues such as clotting/platelet disorders beyond ECMO anticoagulation) but if it will change management. Unfortunately a large percent of biopsies will be indeterminate - just showing nonspecific findings of diffuse lung damage from ARDS - and the ones that do change management are generally because they find something that is not treatable. I would entirely defer to your physician team here. They also want very much what is best for your child - doctors and nurses care much more than you may see about thing turning out well - and have the data and expertise to properly advise you.If it is CMV, then the inflammation from the infection will lag well behind the time the virus is cleared with antiviral therapy. He may just need time for the inflammation to improve and then to heal to allow decannulation..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Thank you. I fully believe the team here is doing everything thing they can think of. Theyve had entire departments sit down to review his case in multiple departments. The reason we began looking for second opinions is that two of the doctors here on his primary team recommended it. It is very comforting to me that they care more about finding answers for him than being the ones to find the answers. I cant speak enough to how much that says about them as doctors and people.In regards to the cmv inflammation lingering in his lungs. Would there be a high level of infection in that area if a pcr was run from a sample from there if thats what was causing his severe inflammation? If so, would a more aggressive dose of his current antiviral help with it?. ### Response: That is reassuring to hear. Sounds like they are doing everything they can.If the CMV is the cause, there's unlikely a high level in the lung if any. The antivirals work reasonably well if there's no resistance, the dosage is generally more than necessary for maximum effect, the levels of CMV in the blood can be tracked, and my guess is they are now at worst quite low.Most of sepsis is instead the body's response to an infection. As the immune response ramps up it starts being less and less precise and the rampaging army of white cells causes widespread injury. This continues after the infection is completely cleared despite a counter-inflammatory response that is trying to resolve all of this overactivity. In fact, the counter-response can be just as harmful if overactive, and there can actually be a state of too much and too little immune response at the same time. This is particularly dangerous since it opens things up to other infections.We actually still don't have very good tools to helpfully manipulate this immune response despite decades of research. There are dozens of therapies that are helpful in mice but later failed clinical trials. Sepsis is very dynamic and complex, nowhere near as simple as "on" or "off", and until we are able to adequately characterize it in individual patients treatments will continue to mostly be limited to the infection itself and "supportive care". Fortunately this is still often sufficient, and we've had good outcomes even in patients who were on ECMO for over a month..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: NAD but a fellow ICU mom. Been in twice for my 2yr old and multiple hospitalizations in between. Its a very scary place. Just wanted to say I feel you and hope for a good outcome for your little fighter.. ### Response: What led to your son having a port?I am sorry this is happening. Has your boy been evaluated for HLH (hemophagocytic lymphohistiocytosis)? ARDS is not a common manifestation of this, but considering the situation of runaway inflammation and that it is occurring in the context of CMV infection, this has to be considered. You can see inappropriate immune stimulation co-occurring with frequent infections and immune deficiency due to there being a milieu of overarching immune dysregulation. Texas Children's Hospital and Cincinnati Children's Hospital are particular specialists in treating these syndromes. I doubt that transfer of a patient on ECMO is possible, but those facilities may at least be able to provide some guidance..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Thank you I will ask him team if this has been tested for!Agree with HLH assessment, very tricky disease and its not clear if he was evaluated for it, but sounds like a reasonable suspicion.. ### Response: Hey OP! I am sorry that you are facing this trying situation. My heart goes out to you and your child!From what you have described, it seems that not only you, but also the doctors are doing their best!The damage to the lung needs time to heal, something that has become a luxury for your child.As you have stated, all other infectious and rheumatological workup is negative. So, they might have tried steroids or intravenous immunoglobulin to tide through this crisis.We just wait, for your child to fight this through!.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Thank you. Theyre nervous to attempt any immune suppression treatments without a diagnosis due to how severe his CMV infection was.. ### Response: Well ivig can help. Your child's kidney function test is fine? Is he requiring any inotropes to maintain blood pressure?If kidney is fine and not requiring inotropes ivig might be tried if not used before..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Kidneys took a hit due to the aggressive BMX drip to try and alleviate the pulmonary edema. He was on a drip to help with hypertension but has since been able to come off of it in the last 36 hours. Docs were concerned about heart complications as to why he suddenly doesnt need it anymore (blood pressure has been a big problem since being on ecmo) however his echocardiogram came back normal.. ### Response: Ok, ivig is contraindicated in renal failure. So, they might bide for time till kidney function improves. It is reassuring to hear that echo is normal..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: rheum!  Would an underlying autoinflammatory disease be appropriate to suspect? Would it contribute to the severity? Aren't there some that are associated with congenital birth defects too (as OP stated below)?. ### Response: Yes and no!On parsing the thread, it is becoming ckear to think on lines of CVID. But, as OP stated, they gave done other rheuunatological workup..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: What about the ones outside of IDs  like MEVF, MKD, Still's, etc. Would genetic testing be worth it for OP to ask about ?. ### Response: I like your thinking. You are covering a huge base. But until and unless we are privvy to all histories, blood work up and labs, we are just conjuncturing possibilities.Regarding genetic test, I do agree that it can be done. The PCP in this case has to make a decision!.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: I dont know what constitutes a full immune work up. I know his immunology team says he has B cells but they dont do anything. They suspect something similar for his T cells but I was told they cant diagnose him while hes sick. His thyroid panel came back entirely normal. Is there something else I should ask about?. ### Response: Yeah. I understand that it may be impolite to ask:Could you provide the cytoflowmetry reports of CD 19+/ CD4+/ CD3+/ CD8+ cells?Since he was given ivig, I might not be able to interpret the current immunoglobulin levels (if atleast 3 weeks have not gone by since he was last given IVIg)..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: No, he doesnt. He started taking IVIG to help combat the CMV infection. Theyre thinking he has an undiagnosed immune disorder due to how severe the CMV infection was. Hes also had vaccines several times but when tested his body acts like its never seen it before.. ### Response: Ok. This is like common variable immune deficiency. The antibody producing b calls just aren't functioning well. That us why his viral illness knocked him bad.But with regular ivig, every 3 weekly (once he recovers) should help him have a normal-ish life..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: This makes sense to me, as the one case I have personally been involved with with a severe CMV viremia was a child with IgA deficiency, CVID, and bronchiectasis. I also sounds like he has had some chronic health issues in the past so it fits that some/all of this is connected. No specific clinical advice from me, but Ill be praying for your boy!. ### Response: While it wont give answers right now, Im surprised a full genetic work up hasnt been done. They could start with a targeted gene panel for immunodeficiency and or lung problems. In genetics having multiple seemingly unrelated issues is a GREAT reason TO GET testing not a reason to avoid it.I have seen kids recover from ARDS but its long and slow. Getting a second opinion is always your right, but jt doesnt sound like they could move him. Youre doing everything right for him. Im so sorry youre going through this.https://www.reddit.com/r/AskDocs/comments/13g4w5i/6_year_old_dying_from_ards_all_labs_are_negative/jjz5icx?utm_source=share&utm_medium=android_app&utm_name=androidcss&utm_term=1&utm_content=share_buttonThey did the work up.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: 3 years, No diagnosis, Losing hopeSpecs: 23M, 140lb 61, no drinking, no drugs, no previous health conditions Negative Covid tests and vaxxedHey All,Ill try to keep this short, but here is the deal. Since early highschool my energy levels have always been low, my body has generally felt quite sluggish. I always just attributed this to long school hours and work. My dad would joke, its like you got the hangover without the partyAbout 2 years ago I was done with school and really made an attempt to increase my health and energy to actually enjoy my days. For the next year or so I attempted to improve health through a consistent sleep schedule, diet, regular exercise, vitamins/supplements, you name it, I tried it. But after feeling consistently worse I began to seek medical help for:Symptoms:Extreme fatigueOverall joint pain, but focused on my backConstant tired burning muscles (as if I climbed a mountain)Canker sores on soft tissue 1.5in+ in diameterMorning nauseaChillsHard lumps on lymph nodesNo staminaSince July of 2019 I began experiencing episodes consistently every 3 monthsFever 103+Mouth sores 1 in+ and tonsils covered in lesionsBed riddenMuscles burnInability to eat or drink due to mouth and throat lesionsMy docs were highly unhelpful as this was the height of covid and docs were quite busy. For the most part I was passed around with little to no results. I am self employed and this is the only reason I am still able to work, as my last episode had me bed ridden for nearly 5 weeks. I was prescribed Lidocaine, magic mouthwash, acyclovir, VitD3. None of these helpedFast forward to 2 weeks ago, and 6 doctors later, I now have $8,500 worth of blood work done. Everything is normal, except I am anemic and discovered 5 herniated discs in my lumbar and neck. My iron levels are ok, but red blood cell count is low.I have been tested for mono, flu, covid, recurring strep, rheumatoid factor, ana reflex, vitamin levels, thyroid, sleep disorders, allergies, just to name a few. All came back normal.Docs are at a loss and dont know where to go next.I have been turned down by Rheumatology, ENT, Hematology, due to lack of symptoms (more or less I look too healthy to hold a place in the queue). I have been told I have the exact same symptoms by friends and family with diagnoses like RA, Lupus, MS, Gall cancer, gout, lymphoma. But I am getting turned down by specialists so tests are not happening.My daily physical health has slipped to a point of now affecting my mental health. I need answers and cannot continue much longer like this. Nothing I try improves or alleviates any pain. I dont know what to do next.. ### Response: Ethnicity? Any family members with similar? How long do fevers last for? Is it 3 months like clockwork? What else occurs during these flares, just worsening of oral ulcers? Where exactly in the mouth are these ulcers? Any vomiting or abdominal pain?.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: White/CaucasianGrandmother: Lupus, Rheumatoid ArthritisGrandfather: Rheumatoid Arthritis, Lupus, GoutAunt: MSUncle: Anemic, celiac, Rheumatoid Arthritis (I have consulted this uncle, he says it is not celiacs)Yes, 3 months like clockwork, no other symptoms I can think of. I have had stomach pains, but I attribute this to my doc prescribing me antibiotics. I cannot eat for the life of me everything burns when it touches the raw nerves on my throat, so the antibiotics on an empty stomach are likely to blame for the upset stomach. No vomiting.The flare ups ulcers are located on the insides of my lips and cheeks, tonsils, back of throat, and tongue. They are according to my dentist "the largest non surgical sores I have ever seen". ### Response: Anyone in the family with recurrent fevers, recurrent mouth sores, recurrent tonsillitis or strep throat, underwent tonsillectomy?Any improvement with steroids?Any labwork during an attack? White count, ESR, CRP in particular.Did your rheumatologist comment on the fevers?.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Nobody like mine. The grandmother had pretty bad mouth sores apparently, and she said it improved with her Lupus medication.I have not tried steroids, so I cannot speak to that... All of my blood work has been during non-flareup times. And I have not been able to see a Rheumatologist yet.. ### Response: Periodic fevers can be autoinflammatory or infectious in nature. Stability of symptoms favors autoinflammatory which falls under the domain of rheumatology. I wonder if the referral was for mouth sores only; I would highlight the periodic fevers as the indication for further evaluation. You can suggest the possibility of adult onset periodic fever, aphthous stomatitis, pharyngitis and adenitis (adult onset PFAPA) to your PCP, although other similar conditions must be considered as well. A negative ANA does not rule these conditions out. Your PCP can rediscuss the case with the rheumatology department. I would also suggest requesting an appointment with a rheumatologist at an academic center as they tend to have more exposure to and interest in unusual conditions. I would also ask your PCP if a referral to an infectious disease specialist would be useful.Agree with /u/m3tac0gniti0n regarding steroids. Patients with PFAPA have significant relief with steroids, so assuming infection is felt to be unlikely a course of steroids started with the next flare may be useful for relief and for diagnosis.Best of luck.https://rarediseases.info.nih.gov/diseases/5657/periodic-fever-aphthous-stomatitis-pharyngitis-and-adenitis.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: This was my first thought as well. My daughter had this syndrome when she was in her teens, it seemed to come about during her monthly cycle. It has subsided as she has entered adulthood. The lesions were restricted to her tonsils but with the high fever It mimicked strep and she always tested negative. She's 26 now and hasn't had enough episodes for at least 7 years.. ### Response: Feels like you nailed it! Well done!.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Other than what is listed in my bloodwork, no. Thank you for your input, simply based on the feedback I have received I may ask my PCP for anymore thoughts regarding the possibility of celiac. Thank you for your input!Of course, I hope it might help you find an answer to your problem. Make sure you continue consuming gluten up til the testing is done. Cutting it out of your diet will cause the inflammatory markers to go down and may make it harder to detect.. ### Response: Just briefly looking over it,Sounds autoimmune.See if a rheumatologist will see you.The labs you provided do not help answer this question.This is also about as far from my specialty as you get, so if other docs offer ideas I would go with thatI'd say the same.Maybe some further autoantibodies tests should be done to rule out Lupus or vasculitides. Other tests that come to mind would be ANCA/Anti-Neutrophil Cytoplasmic Antibody and/or myositis immunoblot; ANA blot (and ENA blot if needed); rheumatic factor.Maybe, but it's a stretch, if it would be possible, I'd swab the sores and ask for some cultures (fungal and bacterial)..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Thank you for your input! I have had an ANA Reflex test done. Is this different from what you describe above? They have suggested swabbing the sores, but ENT turned me down at the time, now I am supposedly waiting for my next flare up and they would swab it then.... we'll see.. ### Response: Indeed, that's the right ANA test.Sorry about the ENT. If you have any labs that you could get these done, I'd suggest going in by yourself. Depending on your country, it might not cost much.Before swabbing, don't eat/drink anything, so it's best to get these tests before brushing your teeth, in the morning..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Anti CCP Antibodies. And would recommend having the bloods done during the flare up with inflammation markers like ESR/CRP. Definitely sounds Autoimmune in nature.. ### Response: Yeah, during a flare up is the best choice. I saw that they already had CRP done and it was normal.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: PBC DiagnosisI'm male, 30 years old, 5'11, 190 pounds. I have Hashimoto's disease and collagen vascular disease. I take 75mcg Synthroid and 400mg hydroxychloroquine per day. A couple years ago I tested positive for antimitochondrial antibodies at 1:80 titer. My liver enzymes have been normal. My total cholesterol is in range but my bad cholesterol is slightly high.My rheumatologist told me that the antibodies are usually seen in primary billiary cholangitis, but that they can be present in rheumatological diseases as well. My diagnosis of collagen vascular disease is a vague label as my only symptoms are low white count and low platelets, declining for a decade. Cancer was ruled out and they tried hydroxychloroquine, thinking it was autoimmune as I already had Hashimoto's disease. My blood counts have been higher since I've been taking hydroxychloroquine.I get my liver enzymes checked twice per year. Should I push for any other tests so that if I have PBC, it can be caught early? My rheumatologist said he wouldn't do a biopsy or ultrasound as my liver enzymes are normal. Is there anything else that can be done?. ### Response: You dont treat normal liver enzymes even if you had PBC. But you don't have pbc because your liver enzymes are normal.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: I've read that the antimitochondrial antibodies can show up years before the disease progresses. Is that true? Should I just continue to have my liver enzymes monitored each year?. ### Response: It can but there's nothing to treat.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Thanks for the responses. I just want to make sure if I develop the disease it can be caught early. I watched my grandfather die of cirrhosis (not autoimmune) and it is scary, especially as doctors tell me antimitochondrial antibodies are associated with the disease and studies I've read say that most people with the antibodies get the disease.. ### Response: People don't check for antimitochondrial antibody in the absence of abnormal liver tests so this is not true at all.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: The studies aren't true? Or my testing positive for the antibodies isn't true? My rheumatologist did a bunch of autoimmune bloodwork due to my low platelets and white blood cell counts. He said he tested for it as it can be positive in diseases like lupus.. ### Response: So it was for lupus. It's irrelevant to pbc because there was no indication to test it.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: They did a wide array of tests because of my white blood cell and platelet counts as they could not figure out why they were decreasing from year to year and all tests for cancer done by an oncologist were negative. The counts were getting dangerously low. The antimitochondrial antibodies came back positive along with antinuclear antibodies. Then they said I do not have lupus or any identifiable autoimmune disease, but only a vague collection of symptoms. They put me on hydroxychloroquine in hopes it would raise my blood counts as they could not figure out the cause and I already had one autoimmune disease. The rheumatologist said I do not have lupus and that he doesn't know what caused the positive antimitochondrial antibody test. He said it's possible it's a due to a rheumatic disease or that it just happened to turn up positive in the bloodwork.. ### Response: Right. But you don't order AMA for pbc unless your liver tests are abnormal. So this is generally worthless. What exactly are you trying to convince me of.If it turns out you have pbc down the line, then you may get treatment if your liver tests are very abnormal.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Elevated esr and crp with sudden symptoms (started 2 weeks ago)Hi doctors!27 year old female 6 months postpartum, weaning of breastfeeding currently. (If relevant)A few weeks ago I got a bug (negative for covid) towards the end I started having hand cramps, foot cramps, muscle pain in my legs and arms and joints, tiny spasms all over including my face and then followed by pins and needles all over and sometimes a burning feeling in skin. I will state, I have had this type of thing happen before a couple years back. I also have severe health anxiety and have been under immense stress.I went to the dr. And he did blood work. Cbc, comprehensive panel, vit d, magnesium, b12, esr, and crp. Everything was normal except for the esr and crp. Esr was 40 and I cant remember the crp level, but it was mildly elevated. Fast forward to this week, I went to the er for related symptoms (they have improved some) dr re checked blood work. Esr went up to 55 so obviously I have some inflammation somewhere. They said it wouldnt be from being sick, not caused by being obese, or stressed or anxious. They kind of hinted at MS and let me tell you that sent me into a real panic. Dr suggested my pcp order a mri of spine and brain. My pcp did so and also sent an urgent referral to rheumatology. Urgent as in November 30th being the soonest appt.I looked at my labs from a few years back and had the same elevated markers that went back down. I also had a rheumatology panel done then and everything was normal. Ana negative.My symptoms seem to be improving but Im still not feeling 100%. I have been a ball of anxious nerves since this has started so its hard to tell the difference. Now Im convinced I have ms or some debilitating disease.. ### Response: ESR elevation is extremely nonspecific. Any inflammatory condition can raise it. Any sickness can get you to the 40-50s. It's up, but not particularly high.I think your doctor is probably managing things well from what you've described..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: My symptoms sound serious to me, but the doctor said otherwise. Am I crazy?21M. Been experiencing this for 4 months and its gradually getting worse. Ive been suffering from headaches and chronic arthritic type pain in my shoulders. My neck is stiff and is tight when I turn it from side to side. The centre of my neck is strained, im in a lot of pain and its stopping me from doing my job and uni work. Sometimes its dull and sometimes its really bad when it flares up, but its always there.They said they dont think its anything serious i.e. muscle tension, but theyll do my bloods anyway to check for inflammation. Im just concerned that nothing will show up if they do my bloods when the pain is dull and ill go back to being in pain all the time and I dont want to seem like im crazy going back to see them. If its something serious will it always show up as inflamed? Thanks. ### Response: I assume theyre trying to rule out anything rheumatological, which would indeed result in raised inflammatory markers if you have symptoms..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Thank you. If it doesnt show up, surely I cant be suffering chronically from all this for 4 months for it to just be muscle tension. Doesnt make sense.. ### Response: Very much could be to be honest..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Asking on behalf of my sister. Liver lab levels insane, among other strange things.Because the leukemia/lymphoma lab is taking forever to come back yet we have a ton others, her pcp isnt giving her much more info. Wonky highs and lows.36F, overall healthy, non-drinker and never smoked. Had 2 successful pregnancies and birth. Eats and maintains healthy diet and exercise. 57 145. All vaccines.3 weeks ago she started feeling achey. No upper respiratory stuff but general aches, fatigue and headache. Took several covid tests and negative. Ended up going to Hawaii where she thought she actually had covid there and those were also negative. She was complaining of the same thing. At one point, thought it was sun poisoning. Shes seemed to get worse and worse. A week later, which was 2 days after returning home she went to the ER for what she thought was severe dehydration. It wasnt that but they werent sure what it was. Said to see her pcp.ER doc did a handful of labs. Initially told her to see her pcp for follow up labs for mono or leukemia. Her joints ache, a weird floaty face feeling, no fever, no upper respiratory, majority of joint pain is in her legs and toes feel strange. Headaches here and there. Otherwise, she feels okay. No notice of brushing, bloody noses, rapid weight loss.Labs below. If a number is in here more than once its because it was the second lab test when increased. Nothing of concern went down, but only up. Only test we are waiting on, of course, is the leukemia one. Mono all came back negative and no antibodies.Sediment rate 4 - normal, Smudge cells - mild, C reactive - higher at 12, Polychrom, platelet morph and others in category this tests were all few or normal, WBC 8.02, Rbc 5.1, Hemagblobin 14, Hematrocit 41, MCV 83, Mch 29, Mchc 35, Rdw sd. 40, Mpv 9 - low., Nrbc 0 , Neutrophils 23.5% low, Lymphocyte 70% high, Mono 3.9%, Eos 1.0 % bordering, Baso 1.2%, Ig .1, Neutrophil # 1.8, Lymphocyte # 5.64, Mono # .08, Eos .08, Baso # 10,Edited and added below AST -57, ALT 61,Others I missed: Anion gap 2, Globulin 3.5, Albumin/gobulin ratio 1All plasma levels seem in range besides glucose bordering high.Can anyone share if youve seen a blood work up look like this? The overall sickness has been going on for 3 weeks now and is increasingly getting worse.If its not CLL like our minds are nervously going towards, do you recommend she ask for a referral to hematology or rheumatology? Weve heard a virus already thrown in there and Im just wondering what virus out there does this to your body bc even tho Im not a dr her liver numbers arent ideal with some other markers showing some poor function Any comment to give insight would be great! Thanks.. ### Response: Where are the liver labs? And how did CLL get brought up?.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: I just went ahead and edited. ALT, AST. Plus a couple others. Whats odd to me - a person that isnt close to a dr; her WBC seems to remain decent. And regardless if its infection or virus I would expect an increase.CLL was brought up bc of the higher absolute lympho count and the moderated smudge cell. The ER doc wrote it on discharge to pcp.. ### Response: I'm a ED physician, and this...sounds unusual. In CLL, the white count should be significantly elevated which in this case, it is not. Furthermore, the presence of smudge cells is not necessarily indicative of CLL. I be surprised if this was CLL. This is likely some sort of viral infection if I had to guess..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Odd skin reaction to my hands and feet occurring 3 times recently with no changes in lifestyleAge - 26Sex - MaleHeight - 6'Weight - 185Race - CaucasianDuration of complaint + Location - Longest was the first time, on both hands lasting around 3-4 weeks before fully healing The second time on the feet was only 2-3 days The most recent time, today, again on both hands only not as severe as the first time. I have pics only of today's episode but I took a few sets over some hours to see the changes.Any existing relevant medical issues - NoneCurrent medications - NoneInclude a photo if relevanthttps://imgur.com/gallery/rrcI6jTEdit: just added some description of each e6Hey everyone, hopefully someone might know what's going on. So these pictures are 3 hours apart from the initial reaction I felt. This is now the third time something like this happened but each time has been different. They feel like an annoying chemical itch/burn and come out of nowhere.The first time about 2 months ago my wife and I had gone to the neighborhood pool. Maybe 3-4 minutes getting into the pool and my hands started burning so I pulled them out and they looked like what happen today but a good bit worse. It took about a month to completely heal. I hadn't done anything about it because I assumed it was some reaction to a pool cleaner or something. That day also was fairly busy and there wasn't anyone else showing the same thing. Also it was strange because I had completely submerged as soon as i got in and I didn't have them show up anywhere else. On top of that they looked raisin shriveled for like 2 hours after only 5-10 in the water.The second time is strange too because it looked the same but happened on my feet and it went from 0 - foot arching pain from the burning. I literally walked in the bathroom and I pulled one boot off and I thought I had ants biting me or something. I took off my sock and the same red blotchy chemically burn look and feel all over my foot. I showered right away they felt better and in 2days they went from fairly tender to no issue.Today is the most recent occurrence happening while I was sitting with a patient in the back of the ambulance. I was typing my report and they started burning again from nothing to pretty sensitive really quick. The pictures I posted are about 3 hours apart from each other if that might help anything at all. But even though it's on my hands like the first time, the severity was not nearly as bad as the first time and looks much better after a few hours than that did for a week or two.. ### Response: This is not a typical palmoplantar rash. I would be concerned that this dermal inflammatory reaction patter could be caused by a rheumatologic condition or similar. I suggest you seek dermatologic care. A skin biopsy and laboratory evaluation seems appropriate..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Sudden loss of mobility - PCP refuses referral/treatmentHello, I'm a 32(F) in the USA. African-American, 5'2" and 144lbs. On Jan 3, 2022, I woke up around 2am with a terrible migraine. I had light sensitivity, confusion and extreme pressure behind right eye. Took excedrin but was unable to sleep due to pain. I was finally able to sleep about 45mins later as meds kicked in. Woke up the next day with a regular headache and soreness in right eye. On Jan. 5th, I suddenly became dizziness at work. The room began to rock and tilt causing loss of balance. My right ear felt clogged and I had pain in jaw joint on the right side. I was taken to ER and evaluated for heart attack, stroke etc. All tests came back normal. I remained in the hospital due to continued dizziness/imbalance but all tests including MRI of head and neck were clear. Was given motion sickness meds but it didn't help. While in hospital, I started having pain in my right hip joint. The joint also pops/clicks with movement. I've experienced the popping/clicking since I was 14 years old (18 years and counting) but this is the first time there has been pain. The pain has spread across my lower back. The pain started as a stabbing, pinching pain and is now an achy and the best way I can describe it is bone deep.I also have weakness in my right leg and intermittent numbness. Two weeks ago, I began to experience multiple episodes of urinary and fecal incontinence. The hip and back pain has gotten worse and the dizziness is the same as when it started. Almost all blood test and urine test have come back normal except for my vitamin d levels. My vitamin d value is 10ng/ml and I was prescribed over the counter vitamin d3 pills (1000unit)An MRI of my lumber spine was done (full report is linked). My PCP said it looked fine but didnt explain anything further. On the MRI it mentions the following:DISCS: L4-5 and L5-S1 disc desiccation and mild to moderate L5-S1 disc space narrowing.BONES: Slight chronic marrow signal changes. Body heights are generally maintained throughout.L3-L4: Slight posterior element degenerative change. Spinal canal and neural foramina are patent.L4-L5: Mild right eccentric disc bulge is slightly improved. Annular fissure. Slight posterior element degenerative changes. Spinal canal and neural foramina are essentially patent.L5-S1: Mild right eccentric disc bulge. Mild posterior element degenerative change. Spinal canal is patent. Slight predominantly bright neural foraminal encroachment.EXISTING MEDICAL ISSUESexercise induced asthma (I take Albuterol as needed)arnold chiari malformationthalassemia traitintermittent fatigueI've also had reoccurring migraines since I was 15 years old along with random, unexplained swelling of my hands and feet. Most recent flare up was unexplained very visible swelling of my left leg in July 2021. (Went to ER and tested negative for clots and gout)I suffer from random bouts of stomach inflammation that has been misdiagnosed as gallbladder disease (gall bladder was removed when I was 16) and has now been attributed to GERD. ( I take omeprazole for stomach and I have a history of stomach ulcers). Most recent flare was October 2021I've also had debilitating back pain since I was 15 years old and have completed physical therapy, acupuncture, multiple courses of steroid injections in my spine and at least 3 courses of prednisone. Pain has been caused by unexplained muscle spasms and bulging discs. I have these flare up at least twice a year.I sometimes have rashes that appear on my back and arms that are often misdiagnosed as ringworm (photos included). Fungal test always comes back negative. So far, the rashes have been diagnosed as eczema and rosacea. Flare ups occur approx once a year for the past 15 years. Rashes sometimes itch but its very mild. Most recent flare up occurred in November 2021.CURRENT SITUATION I requested a referral to be seen in rheumatology and at the spine clinic. PCP did blood test for rheumatoid arthritis plus urine test which came back normal and has refused my rheumatology referral request. PCP also will not refer to spine clinic and has instead enrolled me in a group physical therapy workshop.Dizziness has not changed in 2 months, pain is getting worse, muscle weakness is getting worse but I haven't been prescribed anything. I've been told to use ice and heat and to stretch.LIFESTYLE PRIOR TO CONDITION Before this began, I was very active. I practiced yoga once a week and took dance lessons twice a week. I'm also an avid hiker. I did not fall, over stretched or injure myself in any way prior to these issues. Due to the random flare ups of swollen legs and fingers, I also meal prep and am conscience of what I eat so I believe my diet is pretty good. I've always been an athletic. I played basketball, ran track and played tennis from first grade through high school. In college, I swam and took dance classes most semesters.I'm not used to being in this much pain and not being unable to move for this long. I feel like my PCP doesn't care. I don't know what's happening to my body and because my blood work looks normal, I'm being ignored. Please help! I just want my life back.. ### Response: This is a rather complex history so I think it's difficult to give you any proper in-depth input. My main concern here is why you are being managed for this neurological condition by your PCP. Have you seen a neurologist for this? The reason I ask is that you're having multiple neurological symptoms with this sudden bout of headache and unilateral weakness and numbness that you have described. And MRI might be sufficient but a proper and thorough neurological exam is also needed. Unfortunately our current healthcare system does not allow for an in-depth neurological exam even in the neurologists office but at least it's worth a try.Agreed completely. Depending on the specifics of your history and exam, a total spine MRI, maybe slightly different types (sequences) of brain MRI, EMG, full neuropathy and rheumatologic panels may be warranted, as well as imaging of your hip.I will say, for what it's worth, that the fact that the numbness is intermittent is encouraging, and nothing on this lumbar MR report is dangerous or significantly abnormal (though it certainly could account for your back pain). Weakness in a single limb is typically a concerning thing to hear, however issues with the hip joint like you seem to be describing can cause weakness in the muscles surrounding the hip..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Thank you. I'm glad the MR report looks good. My doctor didn't talk to me about it so I've been very confused/concerned. She hasn't done a neuropathy panel or ordered any hip imaging. As for rheumatology panels, I had a serum rheumatoid factor test, a cyclic citrullinated peptide test, a uric acid test and a ESR. I was told that they all came back normal which is why she won't refer me to rheumatology. I will push for hip imaging because that's where most of my pain is. Thanks for the suggestion. ### Response: The other workup may or may not be necessary but yes, a simple hip XR makes sense based on your symptoms. I had a patient not so long ago who had gotten multiple extremely extensive neurological workups for left leg weakness, including chasing things that ended up being asymptomatic incidental findings. She presented to us for hip pain soon after, and it became very obvious (supported by an X ray confirming our suspicions) that the weakness was entirely due to arthritis. You never know..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: I only saw the neurologist while in admitted in the hospital. The visit lasted about 15 minutes. He did brief an assessment, told me that my x-rays and mri looked fine and that was pretty much it. I've asked my PCP for a referral to neurology as well but she keeps saying that since nothing has shown up in any blood work or x-rays, she can't do it. I asked her if it's possible to have a neurological or auto immune disorder that doesn't show up on x-rays and tests but I haven't gotten an answer.. ### Response: I am not sure which country you're in but for us here in the US healthcare system when you are in the health insurance system you get health insurance quality care. I often advise my patients to seek out a private neurologist for a deeper exam and insight into what's going on. A neurologist couldn't even examine the right hand in 15 minutes much less do a full head to toe Neuro exam. I encourage you to Google a full neurological exam on YouTube and see what it takes and how extensive it is. When the insurance company will only reimburse you per visit and you have 500k in student loans and malpractice insurance and each patient is a potential lawsuit you tend to do something cursory, order a test and if the test is negative you're protected. I know this isn't fair to patients but it's the agreement we have reached as a society in managing healthcare so I'm trying to arm you with the knowledge to get the right care..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Thank you for this. Yes I'm in the US and I have insurance through Kaiser Permanente because my employer has a contract with them. I've had horrible experiences with this hospital and thanks to your response, I now understand why. My next step is going to be working with a private provider. I'm definitely stressed about this because I know the cost will be high but I need to know what's happening to me.. ### Response: I haven't heard the best things about Kaiser I must say. I worked there myself before and I wouldn't want to be a sick patient there..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Bad Burn on Hand is Getting Worse Over Time Despite Being on Antibiotics.[34] [F]Pictures - https://imgur.com/a/D5iF0BI34F,5'10.5,13 Stone,Caucasian,1Bad Burn + 1 Lesser,Possible Neurological Issue or Rheumatological Issue (MS/Epilepsy or Fibromyalgia are possibilities being discussed 7 years in)Meds -Lyrica 75mg 2x p/d + 25mg at night.Solpadol - 3 x p/d, 1-2 tablets ( 30mg/500mg ) per taking.Xanax - 0.25-0.5mg when neededAugmentin - I don't have any left to know the dose but it was for Tooth Abscess that was bad and landed me in ERAmoxicillin 500mg one, three times a day.Flagyl 400mg one, three p/dSolpadine 7/500mg for times of lesser pain. Not taken regularly.Aceclofenac (Vitafen)100mg. One p/dDrink once maybe every two-three months.Smoke heavily, daily.Location: IrelandHi all!I burned my ring finger, and, to a lesser degree, my pinky, on a metal pot about two weeks ago.I had a tooth abscess at the time and aprox 5 days went to Caredoc (Irish out of hours Doctor that isn't Hospital) where i was given Amoxicillin.I didn't get the Burn checked out because at the time it was just red and sore like a usual Burn.Next day tooth was worse so I went to A&E where I was given Augmentin as apparently Amoxicillin + the strength was never going to clear up that type of infection.So, for the last 1.5 (ish) weeks I have been on a variety of antibiotics.However, my hand has been getting worse every day.Today, I woke up and my entire hand is swollen and sore.This hadn't been an issue until today.Yesterday was the first time I noticed some swelling but it was only on Ring Finger and pinky.The other cuts on my hand also were filled with pus though they had no reason to be and, weren't before the weekend.I had the Amoxicillin left over so started taking that again.. ### Response: Occasionally burns can cause dep tissue infections. Returning to a doctor seems wise.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Thank you for the reply.I definitely will be returning, i just was looking for some insight moreso, not medical advice as i dont have any experience with this type of burn.I can't get an appointment for two weeks. That seems like quite a long time to me but I'm not a doctor.. ### Response: If it gets much worse, seek emergency care..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Also, do you have any idea what level burn this is? I'm having a hard time figuring it out.. ### Response: It seems like a full thickness burn..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Clots, cysts, and no diagnosis +7m on ...27yo female, 84kg 5ft9, presents w/ multiple clots in stomach - splenic vein thrombosis, mesenteric vein thrombosis, portal vein thrombosis, for main concern - in addition to other clots present in stomach (8 total). Cysts in spleen and liver, constant upper right flank pain w/ sickness and diarrhea and stomach distension. Right shoulder/neck pain. Constant tonsillitis issue, constant fatigue periods followed by unable to sleep for extended periods of time too.Docs determined clots as idiopathic, now on enoxaparin injections 150ml and codeine for pain management. Been under investigation since Dec-21, w/ no ACTUAL diagnosis. Clots were not caused by a trauma.Had CT, MRI, colonoscopy/endoscopy. No IBS. Cirrhosis. No gallstones or issues with gallbladder. Seen a haematologist full thrombosis panel completed: all genetic, autoimmune, deficiencies, all negative in tests. Jak2/PNH/anticardiolipin/beta2 glycoprotein all negative. Thought hyatid disease for the clots given in spleen/liver, however, negative. Under gastroenterology, rheumatology issues ruled out.Abnormal perfusion areas in liver, calcified splenic cysts appear to be long standing but benign in recent MRI. Fatty deposits for 'cysts' in liver, but appear benign again.Recommended weight loss to aid with symptoms and also reduced fats in diet considerably (got an air fryer), lost 10kg since but upper right quadrant pain seems to be getting worse again and sickness/diarrhea.Getting frustrated with lack of diagnosis as to why clots formed, cysts formed, and what's actually happening to me.No previous medical/family history of clots or cysts. Mom has had 3 miscarriages, Dad has cardiovascular issues. Both grandmother's had cancer - bowel and throat.Awaiting elastography of liver to measure scarring so far.Anything else I should be requesting to aid in a diagnosis? Any thoughts on a diagnosis?. ### Response: Sorry to hear about your troubles. My first thought was a missed covid infection. You may have had it without any particular symptoms, but it can still (rarely) lead to systemic thrombosis in otherwise healthy people. If this ends up being the case, the good news is that it will likely get better. Heres an example case report: https://casereports.bmj.com/content/14/1/e241027.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: I'm vaccinated, had 3 injections.. ### Response: Good for you! This makes it less likely, though still possible..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Confused from Rheumatology appointment. Doc seemed concerned but also not?25M, 6'4, 195lbs.Been dealing with some health issues that have been affecting me pretty heavily and it was suggested I see a rheumatologist just to be safe.He ran some panels where there seemed to be some out of range factors that he wasn't concerned about. The three he did bring up, though, was aANA Screen IFA - Positive | Pattern was Nuclear, Speckled.ANA Titer - 1:40WBC - 2.4 x10(3)/mcLHe wasn't worried about these results, either. My WBC is usually right below reference range, but not typically this low. He did say that that WBC count should have an eye kept on it.. but not to worry about a positive ANA screen or a titer of 1:40.Is this anything I should check up on? The bouts of what I deal with are really messing with daily life and aside from an endoscopy (which I struggle to believe would be causing any of my issues) that showed gastritis and duodenitis, as well as some labs that came back "out of range" here and there.. these results seem to atleast possibly point towards something?Any feedback is appreciated, thank you.If any other labs are needed, please let me know. I can pull them from online.. ### Response: Low WBC and positive ANA are two criteria for lupus. You did not specify what your health issues were though.The presence of a nuclear speckled pattern is often indicative of an autoimmune disorder, as it suggests the presence of antinuclear antibodies..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: 27F immunocompromised and sick for two weeks. Getting worse. Rheumatologist is out of town and ER doctor sent me home pending blood test results that are still processing. Insight?Demographics: 27 female. Height 5ft 6in, weight 190lbs. Married.Conditions: rheumatoid arthritis and lupus; SVT.Meds: 2000mg sulfasalazine, 400mg plaquenil, 200mg Cimzia injection every two weeks.Non-smoker, no alcohol, no caffeine.Duration of complaint: 2weeksI have four doses of pfizer covid vaccine.Currently negative for covid.Two weeks ago before my scheduled Cimzia injection I spiked a low-grade fever. It was about 37.8c. Since then, my temperatures have been 37.5c to 38.5c. Acetaminophen will not bring my temperature down. It initially started with fatigue and headache and fever.Last week I began to get a sore throat, sweating, clamminess, chills, mild sinus pressure, confusion, shortness of breath, and a slight cough.I went in for monthly rheumatology bloodwork on 7/28. Ill attach the results. Mildly decreased WBC and Neutrophils.On 7/29 I went to the emergency room as my primary doctor instructed me to because I was not improving. Many cultures were taken. WBC further decreased and neutrophils were more than half of the previous day. There is a WBC Morphology pending pathologist review.Sepsis cultures have not shown any growth over the day.X-ray of chest showed no abnormality.Im confused as to what could be causing this. The ER doctor also said he was confused and it could be a medication or a nasty virus (was not tested for these) and that I have neutropenia and I am quite immune compromised but left it at that.Today, 7/30, I have had more difficulty breathing, particularly with movement or talking. Im coughing green/yellow thick mucus. More fatigue. My lungs feel heavy.Im thinking of heading back to the ER tomorrow if symptoms get worse, but Im not sure it will do any good for me or provide me with more.Is there any insights?Ive reached out to my rheumatologists receptionist as well as my primary doctor. However, Monday here is a holiday so the offices are closed. The earliest I could see my primary is on Tuesday, and Im not sure how much further it will progress by then.here is the link to my imgur albumI understand that some of the blood work with the hematology panel is still pending.Also, what does it mean with the WBC morphology Reviewed by technologist Sent to Pathologist for review?Thank you in advanced. ### Response: I wouldn't wait a day more. Go to the ER. In my opinion you should be started on broad spectrum antibiotics asap, while waiting for results..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: How do you feel about patients bringing their own files?How do you feel about patients who bring their own files?Im a 28F and was recently diagnosed with a chronic illness and have at least one more serious medical issue suspected. Im asking for advice navigating the diagnostic and treatment process for multiple complex medical issues.Is there anything a CI patient like me can do to make diagnosing and treating easier? Ive heard other chronically ill patients advise to bring a folder full of all medications, symptoms and symptom changes, lab results, etc. to hand to the doctor each visit. Is that something helpful or would you just think they were extra/a hypochondriac?Are there any other things ci patients can do/not do to help? Pet peeves? Im having to go to my pcp or a specialist ALL the time recently and want to make the process as smooth as possible.(For the auto mod: 28F, 5 ft. 10 in., 140 lbs approx., white, dealing with autonomic dysfunction and suspected autoimmune issues as diagnosed by my pcp, neurology, cardiology, and rheumatology teams, have had symptoms for 10 years, medical history previously listed, not taking any relevant medications, no drinking, smoking, or recreational drugs). ### Response: You can bring it but I'd prefer it being sent over before our visit OR letting us review it after the visit. A summary is preferable unless it's truly relevant to what I'm seeing you for. There's just not enough time in a clinic visit to go through a huge stack of medical records.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: So giving you a copy you could keep would be helpful? Ill keep that in mind!. ### Response: Only if it's relevant.


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Unexplained Wounds need help to find answersMy husband served over in Iraq in 2011 and came home due to a machine gun falling on his groin and he had to have nerve blocks. 4 years later he started developing these ulcers that in a matter of hours would turn necrotic. When he was over in Irag he was stationed near burn pits. We've been to countless specialists such as dermatology, infectious disease, rheumatology, wound care. We've been to 10 different hospitals and not one doctor can find the cause of this. For about 2 years we thought it was Pyroderma Gangernosum, but with PG if you cut into it, it will make it worse. With my husband it helps. We have become so hopeless and this is so debilitating. Hes lost countless jobs we are praying to find answers and find someone who has this awful disease that may know what it is. My Husband is 27 years of age 5 ft 5 he weighs 200lbs doesnt smoke or drink. unexplained Wounds. ### Response: Buruli UlcersBrucelosisI only suggest those two as Ive had a patient with the first one who served in the Middle East, and initially a differential was the second. We also get the Buruli ulcers here, but we call them Bairnsdale ulcersId suggest an infectious diseases specialist.What is a burn pit?Oddly enough I couldnt link the WHO page for the first one..


Below is an instruction that describes a task. Write a response that appropriately completes the request. ### Instruction: Please do this! I have met someone who has had similar complaints and they were not able to get a definitive diagnosis.Also, Schnooks, are you a physician in Australia? I understand Buruli ulcers had some what became an issue in 2018 there. While it isn't an issue here in the States, I wonder if this contributes to misdiagnosis? Thanks for your input!. ### Response: I am, anaesthetic registrar.Its not my area, but I think theyre still a problem and actually getting worse (spreading, increasing frequency). They certainly make the news more frequently. Despite the fact theres a syndrome Bairnsdale ulcer down here, apparently theyre a frequently forgotten diagnosis. So it wouldnt surprise me if the same illness would be far from front of mind elsewhere in the world..


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..


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..


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?.


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..


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?.


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..


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.


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..


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..


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..


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..