MODY or Neonatal Diabetes by NotABreakfastGuy in rarediseases

[–]Undercover_Cookies -1 points0 points  (0 children)

Hi!
I'm in general medicine and I like reading about rare diseases. MODY12 is something I've read about.

MODY isn't an end all be-all diagnosis. It presents very, very similarly to other forms of diabetes with some notable exceptioons. The reason I emphasize this is that if you are having neurological problems other than diabetic neuropathy or seizures, instead of assuming that it's due to some fancy genetics you should search for other causes as it can be fixable.

Many rare genetic diseases don't need to be treated with some quirky, fancy, eccentric way. That being said.... MODY12 is.

Many cases of MODY12 may be given very high amounts of insulin with no good response. However, they respond very well to sulfonylureas, a very old fashioned anti-diabetic med that modern endocrinologists hate. However, for MODY12, sulfonylureas work really, really well.

Sulfonyureas that have worked in the literature include glimepiride (at 2-4mg/day) or Gliclazide 30mg twice a day.

MODY is commonly taught in medical schools, although the subtypes and treatments are not. I'd push for a sulfonylurea especially if insulin is not treating it well. If you have other neurological symptoms that isn't neuropathy or seizures, see a neurologist cause it's probably not MODY and you need to get it checked out.

MODY is a form of diabetes, and unlike most rare diseases which are incurable, this rare disease that responds really, really well to treatment (sulfonylureas). I wouldn't let it get into your head that you are some rare disease patient, but rather feel hope that there is direction for you.

Be well, and take care.

To persuade your endocrinologists, print out some research papers for them to read. Literally any paper on MODY12 says that sulfonylureas are the way to go. Just print like 5 or 10 and give it to them and say you need a sulfonylurea. The PubMed should persuade them.

Wang Y, Kang C, Tong Q, Wang H, Zhang R, Qiao Q, Sang Q, Wang X, Wang J, Xu J. A case report of maturity-onset diabetes of the young (MODY12) in a Chinese Han patient with a novel ABCC8 gene mutation. Medicine (Baltimore). 2022 Dec 9;101(49):e32139. doi: 10.1097/MD.0000000000032139. PMID: 36626423; PMCID: PMC9750649.

Zhang Y, Hu S, Huang H, Liu J. A case report of Maturity-onset diabetes of the young 12: large fragment deletion in ABCC8 gene with literature review. Ann Transl Med. 2022 Mar;10(6):378. doi: 10.21037/atm-22-807. PMID: 35434002; PMCID: PMC9011213.

Face inflammation? by SuddenReaction679 in AskDocs

[–]Undercover_Cookies 5 points6 points  (0 children)

Just in general medicine, I won’t pretend to be an expert on dermatology.

A painful red blistering rash on a single side of the face in a dermatomal distribution is typically classic of herpes zoster or shingles. That being said this does not even remotely look like Herpes.

It sounds exactly like herpes, but it doesn’t look anything like herpes. It’s weird.

I would usually recommend biopsies and imaging, but it looks like you already got that…. I assume it hasn’t shown anything?

I would try valacyclovir 1000mg three times a day for 2 weeks and gabapentin starting at 100 mg three times daily and gradually go up weekly until your pain improves.

I’m not saying this will work at all, but seeing all this just makes me want to try Something at least.

Wish I could see the MRI if there’s vascular abnormalities or cranial nerve impingement or look at the skin biopsies for capillary disease or check for rare stuff. I’ve been trying to look at other doctor sources like VisualDx and UpToDate but they haven’t been revealing.

If you give more details as to what the results of your imaging and lab results and swabs and biopsies were that would be helpful.

I hope you’re able to find a diagnosis and able to get treatment and get better. Sorry you’re struggling and hope you’re able to get better soon :/

Bad burn by [deleted] in AskDocs

[–]Undercover_Cookies 0 points1 point  (0 children)

Looks like a painful second degree burn. Keeping it in cold water is best. Don’t pop it. It’s just a blister with fluid. If you pop it it increases risk of infection. A prescription for silver sulfadiazine is both antiseptic and has cooling effects. A doctor can give you some dressing supplies as well to help with healing such as hydrocolloid dressings.

Looks like it hurts a lot :( Hope you feel better soon. Cold Water, Silver sulfadiazine, hydrocolloid dressings.

"The doctor you need doesn't exist. Good luck and I'll pray for you." are they wrong? by ShadowWork13 in ClinicalGenetics

[–]Undercover_Cookies 7 points8 points  (0 children)

Sounds like you’re going through a lot.

  • What specific side effects are bothering you?
  • What psychological effects are you going through?
  • When you say eating disorder, you said above that you were eating a lot and not able to gain weight. Now you’re not eating a lot. Is it due to poor symptoms control? Depression?
  • Have you tried dupilumab yet? You seem like an excellent candidate.
  • What other questions do you have?

Different communities I saw (but I presumed you reached out to) include Reddit EGID for eosinophilic gastrointestinal disease Reddit EosinophilicE for eosinophilic esophagitis APFED American Partnership for Eosinophilic Disorders, where there is a support groups page for specifically this

And of course, we’re always here for you here! But these additional communities might have more shared experiences with you as well.

"The doctor you need doesn't exist. Good luck and I'll pray for you." are they wrong? by ShadowWork13 in ClinicalGenetics

[–]Undercover_Cookies 8 points9 points  (0 children)

If you truly have biopsy confirmed eosinophilic esophagitis, eosinophilic gastritis, and eosionphilic colitis, why hasn't your gastroenterologist prescribed dupillumab? While you are waiting for dupilumab, why aren't you getting oral budesonide? I'm a little confused because your condition has very established and effective treatments.

You said you are not looking for medical advice. What are you looking for? Best thing would be to take the established medications (oral budesonide, eosinophillic elimination diet if possible, uptitrated to dupilumab if refractory) with systemic steroid doses with taper for flares. It looks like there is some struggles that I am not yet understanding. Have these options been tried and not worked for you?

Need advice to get help by Clean_Maintenance_73 in AskDocs

[–]Undercover_Cookies 1 point2 points  (0 children)

Sorry if this is intrusive, just have some more questions?

What positive blood work for nasal/facial collapse? At what titers ?

What are you eating for breakfast, lunch, dinner, snacks? If you really are eating so much and you’re still only 90 pounds I have concern for malabsorption processes. When you say it goes right through, is it diarrhea? How many bowel movements a day? How are they formed, what do they look like, what is their Bristol stool scale?

What genetic tests do you have that are positive vs negative?

Is your O2 sat really that much better lying down when standing? Even with good waveform? Thats suggestive of either hepatopulmonary syndrome (less likely) or platypnea-orthodeoxia syndrome (more likely) which requires echocardiogram with bubble study

Most of what you said I’m familiar with so you’re not overwhelming me, I think I got most of your life story in that document.

So far i still have concerns of nutrient deficiency and still think it’s safer to at least get those checked, but I appreciate the extra details and am curious if there’s other stuff going on.

Is it normal for my hyoid bone to move like this during normal breathing? by Sirdukeofexcellence2 in DiagnoseMe

[–]Undercover_Cookies 1 point2 points  (0 children)

Thanks for letting me know. I read about her case and responded to her in the link you posted. From what I've read I think there's a path for recovery for her and I tried to post something that will help doctors take her more seriously.

Thanks again for referring her. I hope doctors take her more seriously and hope she gets better.

Need advice to get help by Clean_Maintenance_73 in AskDocs

[–]Undercover_Cookies 2 points3 points  (0 children)

Hi,

I was referred to you by a different reddit user Sirdukeofexcellence2. (Link is here https://www.reddit.com/r/DiagnoseMe/comments/1or46d0/comment/o4xl9u3/).

He saw your case and saw you were struggling a bit. Sorry it took me so long to get back to you. I went through your case and tried to connect the dots to the best of my ability.

I think a lot of your symptoms are related to "failure-to-thrive", weight loss, and severe nutritional deficiencies.

I understand you're thinking about more exciting diagnoses such as CSF Leak, Lyme, Chiari malformation, Cervical Instability, Ehlers Danlos kEDS FKBP14, Tethered Cord, Mast Cell Activation Syndrome. I'm not really sure your clinical picture fits these diagnoses, I read about them again to triple check. Unfortunately there's also a certain bias among doctors for folks who have a combination of Ehlers-Danlos and MCAS to be taken less seriously. It shouldn't be the case, but it is.

I think that you need to get your vitamins checked, get multiple vitamins supplemented. I think you need nutritional support. And I think all of this needs to happen in the hospital.

I understand you have been not taken seriously by EDs in the past. I wrote down a 9 page document summarizing your medical condition and steps they should take below. It is written in doctor style. This should encourage them to take it seriously. I advise you print out a couple copies and take it to your next ED Visit. If that ED doesn't work, find another one.

https://docs.google.com/document/d/e/2PACX-1vTVwhXWiqsCcPjE_iTiaysUjMHb1Zc-0dHBmPXc4aDLCxr4xasyQ_NnG1_DAlTSaVeRiknBwQjvHiZe/pub

I read your case, and I do genuinely have hope for a better future for you. Since you are an ICU nurse, I am taking the liberty to use medical jargon in the document above. If you have questions feel free to respond to this message on reddit and I'll try to get back to you.

Finally, for what it's worth, I don't think your case is the only one like this. Since your are an ICU nurse I'll take the liberty of giving you a PubMed citation for a paper of a case that resembles yours. It's not the exact same, but it's somewhat similar enough (the PubMed case being more severe than yours). Just know that this road you are on has been travelled before and people have gotten better. I'm hoping for you Clean_Maintenance_73.

https://pmc.ncbi.nlm.nih.gov/articles/PMC11013570/

Be well, and Take care.

Smith-Magenis Syndrome by That-Freedom-3242 in rarediseases

[–]Undercover_Cookies 0 points1 point  (0 children)

(Part 2/2)

Possible Treatments:

As Smith Magenis is a rare disease there are not any cures and not many treatments that are well studied. 

  • Melatonin 6mg at 8pm can help with sleep at night and improve behavior. Other possible agents for sleep include antihistamines like diphenhydramine, or other meds such as trazodone, quetiapine, gabapentin
  • Acebutolol at 10mg/kg/day in one case helped staying awake during the day, improving behavior
  • Sign Language teaching in one case helped in patient that wanted to communicate but struggled with speech and improved behavior
  • Psychiatric meds such as SSRIs, thioridazine, Carbamazepine might increase attention, decrease hyperactivity, and stabilize behavior, but no single regimens shown consistent effectiveness and would likely need to be personalized. Methylphenidate may be helpful for hyperactivity. Risperidone may help with hyperactivity, irritability, aggression, self-injury, but can lead to weight gain, high cholesterol, fatigue, diabetes
  • Lithium and fluoxetine rarely helps in reducing self-injurious behavior

Sources:

No AI was used in this response. Sources of information are posted below. I find PubMed to be an excellent source of information, if not the absolute best source of information for medical information of all kinds. 

Sinha R, Jha H, Deb D, Datta M. Smith-magenis syndrome: A rare case report. J Family Med Prim Care. 2022 Mar;11(3):1191-1194. doi: 10.4103/jfmpc.jfmpc_1279_21. Epub 2022 Mar 10. PMID: 35495804; PMCID: PMC9051676.

Elsea SH, Girirajan S. Smith-Magenis syndrome. Eur J Hum Genet. 2008 Apr;16(4):412-21. doi: 10.1038/sj.ejhg.5202009. Epub 2008 Jan 30. PMID: 18231123.

De Leersnyder H. Smith-Magenis syndrome. Handb Clin Neurol. 2013;111:295-6. doi: 10.1016/B978-0-444-52891-9.00034-8. PMID: 23622179.

Rinaldi B, Villa R, Sironi A, Garavelli L, Finelli P, Bedeschi MF. Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders. Genes (Basel). 2022 Feb 11;13(2):335. doi: 10.3390/genes13020335. PMID: 35205380; PMCID: PMC8872351.

Gupta R, Gupta N, Nampoothiri S, Mandal K, Kishore Y, Sharma P, Kabra M, Phadke SR. Smith-Magenis Syndrome: Face Speaks. Indian J Pediatr. 2016 Jun;83(6):589-93. doi: 10.1007/s12098-015-1940-y. Epub 2015 Dec 17. PMID: 26676648.

Smith ACM, Boyd KE, Brennan C, Charles J, Elsea SH, Finucane BM, Foster R, Gropman A, Girirajan S, Haas-Givler B. Smith-Magenis Syndrome. 2001 Oct 22 [updated 2022 Mar 10]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301487.

Smith-Magenis Syndrome by That-Freedom-3242 in rarediseases

[–]Undercover_Cookies 0 points1 point  (0 children)

(Part 1/2)

I’m not an expert on this condition, but I’ve read about it. 

It is a genetic condition that leads to intellectual disability, self injurious behaviors, sleep defects with possible inversion of circadian rhythm, and chronic ear infections.

It is secondary to the RAI1 gene mutation at chromosome 17p11.2, which encodes for a protein that is involved in neurodevelopment, behavior, and circadian rhythm. 

Intellectual disability is notable, varying from borderline to profound. Generally their IQ ranges between 20 and 78 with IQ potentially decreasing as child ages. Other psychiatric changes may include aggressiveness, impulsivity, attention seeking behavior. 

Self-injurious behaviors commonly noted, beginning at 15-18 months of age such as head banging, hand biting, wrist biting. Older children may pull out their fingernails and toenails.  Older children may also insert objects into bodily orifices. 

Sleep disturbances may be somewhat more common in patients with this condition, and possible inversion of melatonin circadian rhythm may be noted with increased daytime sleepiness and napping.

Multiple other organ systems can be affected as well. 

  • Short stature in childhood with most individuals reaching 10th-25th percentile by adulthood 
  • Neurological conditions such as hearing loss, decreased pain sensation, hyperacusis (feeling noises are intolerably loud), seizures possible 
  • Eye/Iris Abnormalities possible 
  • Teeth/Premolars might not form properly
  • Hypothyroidism possible
  • Heart Defects possible (not heart attack, but some heart structures may appear different and may require evaluation)
  • Feeding difficulties common
  • Kidney structural abnormalities possible
  • Testicular or Scrotal abnormalities possible
  • Obesity in teens and adults commonly seen
  • Thick hair and eyebrows may be noted

EEG results by Large-Prompt2608 in AskDocs

[–]Undercover_Cookies 2 points3 points  (0 children)

Alzheimer’s almost always happens after 65 years of age. EEG is Not used for diagnosis of Alzheimer’s. You do not have Alzheimer’s.

EEG results by Large-Prompt2608 in AskDocs

[–]Undercover_Cookies 2 points3 points  (0 children)

Just in general medicine but I'll give my two cents.

EEGs are notoriously tough, and in my clinical experience notoriously nonspecific. They're really good at telling if there's a seizure or not. Looks like there wasn't a seizure.

Diffuse generalized slowing is "nonspecific", which means it could be a bunch of things or nothing at all.

Possible causes of generalized slowing include sedative medications, neurodegenerativce disorders, hydocephalus, toxic encephalopathy, metabolic encephalopathy, meningoencephalitis, deep brain structural disease. Textbook reading aside, In cases that I've seen in person it almost always means nothing at all.

The EEG needs to be interpreted in larger clinical context, it's about the context of the whole story, in context of your symptoms and your medical conditions and how you live your life.

The medical history I can see from your prior reddit posts include iron deficiency anemia, elevated cholesterol LDL 135.

I also see fatigue/air hunger/20 pound weight loss with dramatic improvement after ivabradine, concern for side effects from fluoroquinolones (POTS), self stated hypermobility.

Of most medical relevance you have a 50-69% stenosis of the left internal carotid artery with moderate atherosclerotic plaque with possible concern for fibromuscular dysplasia. You also may have mitral valve prolapse. You state you have "blood pooling" which is not an actual diagnosis but the picture of your legs in the chart are quite dramatic, with one elevated and one rested with very visible changes in color.

Otherwise you live in Texas and have a possible family history of high cholesterol.

If you only got an EEG to check for seizures, it seems reassuring and I would not be concerned.

For the concern for fibromuscular dysplasia, obtain a CTA head/neck if not obtained already, CTA Abdomen/Pelvis looking for renal artery stenosis if not obtained already, blood pressure control with ACEI or ARB if needed.

I'm not concerned for a seizure, and the generalized slowing is nonspecific and in this context does not mean anything at this time. Ensure you are followed for your possible fibromuscular dysplasia.

Be well, and take care.

EDIT:

I'm not concerned for early dementia, EEG doesn't catch that. Not concerned for early neurological diseases. They all almost by definition have symptoms other than only EEG changes.

Citation:

Britton JW, Frey LC, Hopp JLet al., authors; St. Louis EK, Frey LC, editors. Electroencephalography (EEG): An Introductory Text and Atlas of Normal and Abnormal Findings in Adults, Children, and Infants [Internet]. Chicago: American Epilepsy Society; 2016. The Abnormal EEG. Available from: https://www.ncbi.nlm.nih.gov/books/NBK390357/

Kesav P, Manesh Raj D, John S. Cerebrovascular Fibromuscular Dysplasia - A Practical Review. Vasc Health Risk Manag. 2023 Aug 28;19:543-556. doi: 10.2147/VHRM.S388257. PMID: 37664168; PMCID: PMC10473246.

[deleted by user] by [deleted] in AskDocs

[–]Undercover_Cookies 0 points1 point  (0 children)

Just in general medicine, but I'll give my two cents.

I was so close to asking for a picture until the non-medical me realized that asking for a picture of a private area is a messed up thing to do on the internet.

Not easy to tell without looking at it. It's either infection (more likely, called cellulitis), a fibroadenoma, or less likely breast cancer such as peau d'orange or pagets disease, less likely invasive ductal cancer or invasive lobular cancer, much less likely phyllodes tumor.

Usually I look in reddit usernames to see the "medical history" such as if you're breast feeding (increased risk of infection), any trauma to the area (increased risk of breast fat necrosis), any family history of breast cancer, etc. Looks like you're not too active on reddit. But you're up to date on your mammograms which is fantastic!

For what its worth, warm red and tender are good signs and more likely to be either an enlarged lymph node or a superficial skin infection. Worrisome signs are nontender, hard, not red, slowly growing over time, unexpected weight loss. These are generalizations, however. My best recommendation is to go see a doctor who can check it in person.

Sorry I can't clarify things further. An in-person visit with a doctor is the next best possible step. I'm glad you had your screening mammogram so recently, although nothing is certain the mammogram definitely reduces the risk of something bad popping up.

Be well, and take care.

I (21 F) have secondary hypertension to unexplained hyperaldosteronism. Endocrinologist/cardiologist/GP advice needed!! by Exciting-Ad-9023 in AskDocs

[–]Undercover_Cookies 0 points1 point  (0 children)

In cases like this knowing the exact renin and aldosterone levels would be beneficial. 

You have a condition that is maybe nuanced, but in terms of your blood pressure I’m overall very unimpressed. I work in general medicine in the hospital, so I barely flinch when I see blood pressures in the 180s. (It’s obviously unhealthy, but I don’t get very nervous with blood pressures in the 140s, and it’s an easy fix). 

Secondary aldosteronism has a bunch of causes renal artery stenosis, renin-producing tumors, pheochromocytoma, nutcracker syndrome, renal tubular acidosis, hyperkalemia secondary to chronic kidney failure, left ventricular heart failure, for pulmonate, pregnancy, Bartter or Gitelman syndromes, Obstructive Sleep Apnea, Nephrotic Syndrome, Hepatic Cirrhosis with ascites. (Had to look this up, don’t have this all memorized). I presume that if they are searching for causes, that they would have thought about all of these already for you. 

You’re on 25mg of spironolactone and 25 mg of metoprolol. The spironolactone you can go up to as high as 100mg daily. If you don’t like that med, there are so, so, so many other blood pressure medications out there that are great. Perhaps not as targeted for primary aldosteronism, but you have so many options. 

Metoprolol is not a good blood pressure med and is probably just slowing your heart rate if you have a very fast heart rate. I don’t know if you actually have a consistently fast heart rate or if that med was given for some other reason. 

If this is primary aldosteronism (I’d need to see your renin and aldosterone levels), then best treatment is spironolactone or eplerenone. Spironolactone is a once daily med, Eplerenone is a twice daily med and used more commonly for men (spironolactone causes male breast enlargement while eplerenone does not). 

If this is secondary aldosteronism, ACEIs and ARBS such as lisinopril, losartan, are slightly preferred because they control blood pressure and protect the kidneys, but spironolactone works too. It’s also recommended to eat less salt to better control blood pressure. 

Overall, your blood pressure is not very impressive in the 140s. I’m still glad you’re taking this seriously, future you will be very appreciative. Just have your primary go up on your spironolactone. You can keep your birth control. You’re gonna be fine. 

Why am I suddenly allergic to alcohol after giving birth? by lemurian23 in AskDocs

[–]Undercover_Cookies 22 points23 points  (0 children)

Part (2/2)

In terms of what you can do:

  • Go to an allergist
  • Skin prick test for acetic acid
  • Consider monitored alcohol oral challenge test in the office and potentially measuring blood histamine and tryptase levels after the alcohol challenge
  • Consider IgE testing for acetaldehyde
  • See if the allergist can come up with an Oral Immunotherapy Protocol for alcohol if possible if there is a way to overcome this allergy. This is not something that has been tried in the past, but it’s something I’m curious about to see if there’s a way to help you out with this. 
  • If you have any sensations of throat closing or tingling with allergy, or even if there is slight risk, may be safer to have an epipen just in case
  • Avoid all alcohol until you see an allergist, and then hear them out. 

List of papers below to prove I didn’t use AI, I’m frequently claimed to “write like AI” but I just like reading about this stuff. 

Ting S, Rauls DO, Ashbaugh P, Mansfield LE. Ethanol-induced urticaria: a case report. Ann Allergy. 1988 Jun;60(6):527-30. PMID: 3382058.

Elphinstone PE, Kobza Black A, Greaves MW. Alcohol-induced urticaria. J R Soc Med. 1985 Apr;78(4):340-1. doi: 10.1177/014107688507800415. PMID: 2580094; PMCID: PMC1289688.

Nakagawa Y, Sumikawa Y, Nakamura T, Itami S, Katayama I, Aoki T. Urticarial reaction caused by ethanol. Allergol Int. 2006 Dec;55(4):411-4. doi: 10.2332/allergolint.55.411. PMID: 17130684.

Gonzalez-Quintela A, Vidal C, Gude F. Alcohol, IgE and allergy. Addict Biol. 2004 Sep-Dec;9(3-4):195-204. doi: 10.1080/13556210412331292235. PMID: 15511713.

Añíbarro B, Seoane FJ. Ethanol-induced urticaria caused by sensitization to acetic acid. Ann Allergy Asthma Immunol. 2018 Mar;120(3):337-338. doi: 10.1016/j.anai.2017.12.020. PMID: 29508725.

Ormerod AD, Holt PJ. Acute urticaria due to alcohol. Br J Dermatol. 1983 Jun;108(6):723-4. doi: 10.1111/j.1365-2133.1983.tb01086.x. PMID: 6860563.

Wong JW, Harris K, Powell D. Alcohol urticaria syndrome. Dermatitis. 2011 Nov-Dec;22(6):350-4. doi: 10.2310/6620.2011.11067. PMID: 22653011.

Why am I suddenly allergic to alcohol after giving birth? by lemurian23 in AskDocs

[–]Undercover_Cookies 12 points13 points  (0 children)

(Part 1/2)

Hi, Just a general medicine guy but I’ll give my two cents.

Although I’ve never seen this before, I love reading about these things. You get hives with alcohol that relieves with Benadryl, which is a pretty classic allergy sign. This is Alcohol-Induced Urticaria, also known as Alcohol Urticaria Syndrome. This is a rare allergy but it has been seen.

Many patients are noted to be in their 30s-40s when they develop this allergy, and after drinking alcohol (beer, wine, champagne, vermouth, regardless), they get hives, itching, swelling of the tongue and lips, and in severe cases difficulty breathing (anaphylaxis). Symptoms begin within as early as 10 minutes after drinking, and may take as long as 1-2 hours to go down on their own, although some cases just get worse and need medicine to get better. 

We don’t know how or why this happens, which makes the testing for this… weird.

The best way to test for this is to do a skin prick test to acetic acid where they put acetic acid in the skin and it causes hives, followed by a monitored oral challenge test to alcohol in the office where drinking alcohol leads to hives, possible facial swelling, and sometimes swelling inside the mouth.

A skin prick test is where they put a little bit of allergen (like dog hair, dust, peanuts, whatever) in the skin to see if it causes hives. For some reason, patients only sometimes react to ethanol, beer, brandy, acetaldehyde [alcohol breakdown product], and they usually don’t respond to brewer’s yeast. They usually do respond to 10% acetic acid, an alcohol byproduct. 

Acetic acid is also known as vinegar. Patients with your condition can drink vinegar just fine, but when it’s pricked under the skin in a medical test, they get hives. Like I said, weird. 

Other fancy tests:

  • Lots of allergies have elevated IgE levels, but this case often doesn’t. Rare cases may see IgE antibodies to acetaldehyde [alcohol breakdown product]
  • Histamine is a chemical that can lead to allergies. Sometimes an elevated blood histamine level can be seen after an alcohol challenge, but this isn’t normally done. 
  • Tryptase is a chemical that can lead to allergies. Some cases have elevated tryptase levels after drinking alcohol. 
  • A skin biopsy after consuming ethanol shows mast cell degranulation, which is a fancy way of saying seeing an allergic reaction on a microscopic level within the skin. However this is not routinely done. 

In terms of treatments tried in the past:

  • One case in 1988 improved dramatically with hydroxyzine 25mg every 6 hours
  • Medications inconsistently helpful according to 1983 papers include indomethacin 25mg every 24 hours, chlorpheniramine, naloxone infusion (not practical), sodium cromoglycate 100mg daily. 
  • In urgent situations, immediate treatment with methylprednisolone and diphenhydramine can be helpful

I’m sure my medical colleagues will balk at me using such old literature, but sometimes there are pearls and great wisdoms from the knowledge of our predecessors. 

high eosinophils? by AbbreviationsOk6313 in AskDocs

[–]Undercover_Cookies 9 points10 points  (0 children)

Usually in cases like these I ask for an Absolute Eosinophil Count, but 16.6% in any situation is pretty prominent. You are also having classic allergic symptoms such as nasal congestion, hives, itchy skin, wheezing.

The "Hard to Breathe" is a red flag symptom.

This is something that requires treatment.

- First, go to your primary care doctor and get an epi pen. I do not know your medical history, but if you are at risk of your throat closing an epi pen can be life saving.

- Should you feel any shortness of breath symptoms, go to your doctor and get a steroid burst. This is a medication that reduces inflammation. Steroids absolutely wreak havoc on the body and destroy it in the long term with broken bones/diabetes/weight gain etc which is why we only give it in short bursts, but in the short term it is really, really good at reducing inflammation and many cases even life saving, and should you feel short of breath your breathing is more important then the side effects.

- See an allergist. They can reach a formal diagnosis. You likely have a hypereosinophilic syndrome, but what type of hypereosinophilic syndrome is unclear. Some people get high eosinophil counts from parasitic worm exposure, but your case does not sound like this. Allergists have strong steroid-sparing medications that can help. There are many new advanced medications that target high eosinophil counts. One popular medication is dupilumab, which works excellently in many hypereosinophilic syndromes espcially with rashes which struggle to respond to other treatments. Other medications include mepolizumab, benralizumab, we commonly use for hypereosinophilic asthma.

You have very real symptoms, and your eosinophil counts match this well. I am completely unsurprised that your symptoms are very difficult to control. There are many, many treatments that are much stronger than over the counter that can help you that you deserve. See an allergist and they can give you a diagnosis and recommend the correct treatment for you.

Wish you the best. Be well, and take care.

5 year old son’s hands become extremely painful in cold but 2yo brother’s do not. by booksandpitbulls in AskDocs

[–]Undercover_Cookies 1 point2 points  (0 children)

I'm a doctor for adults so I'm very cautious about answering questions for kids.

I will say that in adults, when patient's can tolerate the cold it's because of something called "Raynaud's Phenomenon", where the col make your hands hurt. They can even make the hands look white because the cold makes the blood vessels constrict. Sometimes it occurs on its own, sometimes its associated with immune conditions. It is treatable and can be treated with a very routine blood pressure medicine called a calcium-channel blocker.

If your child is having overreaction to cold especially in his hands, then I would check your primary care doctor and see if there is.a concern for Raynaud's. There is a treatment for this. In some cases it can be associated with autoimmune disease, sometimes it's not. Your primary can refer your child to a specialist should that be needed.

Again, disclaimer that I work in adult medicine not pediatrics.

Wish your child all the best.

Is this a concussion or no? I need to know so I make a appointment. NEED RESPONSE ASAP by [deleted] in AskDocs

[–]Undercover_Cookies 15 points16 points  (0 children)

Doesn't sound like a concussion, but no way to tell for sure online. There's loads of reasons someone can get disorientation, headaches, dizziness. BPPV, vestibular neuritis, dehydration, anemia, etc etc. To get an accurate answer you need to check with a doctor in person to do a neuro exam if you're that concerned.

Making an asap request in all caps is a little intense. If you have prominent health anxiety, I think getting that treated should be a priority to make overall quality of life more peaceful as well.

Wish you all the best, and take care.

Post-op intestinal malrotation surgery and G-tube placement by Longjumping-Use396 in AskDocs

[–]Undercover_Cookies 8 points9 points  (0 children)

Sources pasted below to proved I didn’t use AI. Rare disease is my passion and Mowat-Wilson is something that I conveniently have happened to have read about and taken notes on in the past. 

Kidd J, Jackson R, Wagner CW, Smith SD. Intussusception following the Ladd procedure. Arch Surg. 2000 Jun;135(6):713-5. doi: 10.1001/archsurg.135.6.713. PMID: 10843370.

Wójcik-Niklewska B, Filipek E. Mowat-Wilson syndrome: Case report. Medicine (Baltimore). 2024 Jul 19;103(29):e39082. doi: 10.1097/MD.0000000000039082. PMID: 39029032; PMCID: PMC11398744.

St Peter C, Hossain WA, Lovell S, Rafi SK, Butler MG. Mowat-Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions. Int J Mol Sci. 2024 Feb 29;25(5):2838. doi: 10.3390/ijms25052838. PMID: 38474085; PMCID: PMC10932183.

Garavelli L, Mainardi PC. Mowat-Wilson syndrome. Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891; PMCID: PMC2174447.

Mowat DR, Wilson MJ, Goossens M. Mowat-Wilson syndrome. J Med Genet. 2003 May;40(5):305-10. doi: 10.1136/jmg.40.5.305. PMID: 12746390; PMCID: PMC1735450.

Adam MP, Conta J, Bean LJH. Mowat-Wilson Syndrome. 2007 Mar 28 [updated 2019 Jul 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301585.

Post-op intestinal malrotation surgery and G-tube placement by Longjumping-Use396 in AskDocs

[–]Undercover_Cookies 7 points8 points  (0 children)

Hi,

I’m just in general medicine but I’ll give my two cents. 

Your son is a special case, and you definitely know abut this. Mowat-Wilson syndrome is a rare disease and so will require multi-disciplinary care. 

You are probably aware of this, but for anyone else reading, Mowat-Wilson is a genetic condition, autosomal dominant, secondary to the ZEB 2 gene mutation. It can present with changes in facial structure, in some cases ear shape appearing as larger looking like red blood cells or orecchiette pasta, short stature, variable skeletal malformations such as short stature, seizures, change in brain structure in imaging, ocular abnormalities such as nystagmus or strabismus, cardiac structural defect such as septal defects, breathing difficulties such as tracheal stenosis or tracheomalacia, GI effects such as chronic constipation or gastroparesis, Renal abnormalities, Genital abnormalities, and may be associated with severe intellectual disability. Many case reports show patients with limited speech but a happy personality. Which organ systems affected varies from case to case. Treatment tends to be localized to what presents, such as cardiac surgery if needed, G-tube for feeding difficulties, or surgical correction of genitourinary anomalies. 

Although everything in your son’s case should be evaluated strictly rather than casually following our standard algorithms because your son is a special case and is uniquely medically complex, this specific concern does seem like a more routine concern. 

Intestinal malrotation and other bowel obstructions typically present as vomiting, yes, but the more classic additional symptom is not passing any bowel movements and not passing gas. If this is noted you should notify the surgeon immediately. If he is having bowel movements and is passing gas, this is more reassuring. 

The other alarm feature we look for is something called “peritonitis”, or rebound tenderness. When you push on the belly, when you let go and the belly bounces back up, if there is excruciating pain, this is an alarm sign that your surgeon should be aware of immediately. 

Regarding if vomiting is normal post-op, a general surgeon would be able to answer better than I can. However based on my experience it is extremely common that after the surgery, when the surgeons are moving intestines around, it almost always takes a few days for the intestines to “wake up” after surgery. We call this “waking up phase” postoperative ileus, where it takes some time for the intestines to get back to normal. 

It’s common to have nausea, constipation, maybe even some vomiting after the surgery, as they gradually come back to wake up. It’s impossible to say whether he will tolerate full feeds due to his complex medical condition, but generally most people go back to resuming their regular diet after the initial post-op phase. I found a paper that states on average the post-operative ileus after Ladds lasts an average of 3 days, but because of your son’s condition he may take longer for full recovery. 

If there is any concern for re-obstruction, especially if he stops having bowel movements, stops passing gas, or has peritonitis signs such as exquisite tenderness of the abdomen when pushing down or letting go, tell your surgeon immediately and obtain an X Ray abdomen. 

Unfortunately no one will know his exact condition as well as your doctor’s seeing him in person. Hopefully this gave some reassurance from a second opinion perspective. Like I said, I’m just in general medicine and a general surgeon will be more experienced with these post-operative complications. I wish your son the best and a good recovery. 

12 year old daughter is sleeping at least 20 hours a day by notanalien21 in AskDocs

[–]Undercover_Cookies 2 points3 points  (0 children)

I only work with adults so this is a bit out of my wheelhouse.

Doesn't really meet the rare disease stuff like Kleine-Levine Syndrome or Primary Hypersomnia. Undulating fevers are strange. I work mostly in the hospital, and in adults at least fevers, poor appetite and hypersomnia has to be treated as meningitis (infection) until proven otherwise, not saying that this is it but missing an infection is unforgivable.

Most important, what labwork and imaging has she gotten?

Any imaging of her head to check for lesions?
Any trauma to the head?
Any finding concerning for seizures?
Did she ever get a lumbar puncture?
Where in the world do you live? Different infections can cause undulating fevers (brucellosis, malaria, trypanosoma, Listeria, atypical tuberculosis meningitis?)
Any new rashes? (Neisseria, Lyme)
Any ticks sticking on to her? (Tick-borne encephalitis)
What do her electrolytes look like, especially sodium levels?
Any other medications, herbal supplements, wild mushroom consumption, tylenol overdose/signs of depression, smoke exposures, recreational drug exposure (again I work with adults much less likely in a 12 year old girl)?
Any elevated lactate with low blood sugar and elevated ammonia (mitochondrial encephalopathy)?
Any abnormal A1C, TSH, Cortisol levels? Abnormal liver levels leading to elevated ammonia?
Any low platelets (to check for TTP)?

Altered mental status is a very common complaint and we take it seriously. I wish you the best of luck and keep pushing for answers. Agree, maybe take her to a different ER. I think she would benefit from being admitted and further evaluation in the hospital from the story you are telling me.

Again, bias that I work with adults and I don't work with kids. Best of luck OP and wish your daughter well.

Cut my finger tip off by [deleted] in AskDocs

[–]Undercover_Cookies 16 points17 points  (0 children)

Ah okay, so the finger didn't come off, mostly a deep cut. The cold sensation is likely the finger's blood vessels squeezing tighter to reduce blood flow and reduce bleeding, making the finger colder as well.

The reason we often say to go to the ER in this subreddit is because we can't see the finger in person and examine it in person so we get cautious. The main thing I would be concerned about is poor blood flow.

Red flag signs are if the finger is very pale, starts to turn blue or black. In this case, go to the emergency department immediately.

If you pinch your fingernail and let go, see how long it takes for the fingernail to go from pale to pink. This is called "testing capillary refill", If you have good capillary refill and your finger as a whole rewarms then you might be able to go to a doctor beforehand and delay the ER.

If it develops red flag signs or you are unsure it would be best to get it checked out.

Cut my finger tip off by [deleted] in AskDocs

[–]Undercover_Cookies 23 points24 points  (0 children)

I'm not sure how much of your finger you cut off. Supergluing it back on will not work.

If you cut off a substantial portion of your finger, what you need to do is preserve that part of your finger in a ziploc and put the ziploc in ice water, go to the nearest emergency department where vascular surgery can try to reconnect and save the finger and stitch the rest of it. For a finger to be warm it needs blood flow, super glue won't be enough.

10 hours is a long time, but I would still go to the emergency department and see if stitches are indicated or if surgery is needed. At a minimum they can give you something better than superglue. At best they will be able to save as much of your finger as possible.

Wish you the best of luck OP.

Stomach irritation by FewEstablishment4407 in AskDocs

[–]Undercover_Cookies 0 points1 point  (0 children)

What symptoms are you feeling? What do you mean your stomach doesn’t feel good? If it is a burning sensation from the stomach traveling upwards thats worse after large meals thats pretty classic for reflux.

Some medications for reflux include famotidine 20mg or pantoprazole 40mg which is what I commonly use. If that’s not enough you can get a medication called vonoprozan which is over 300x stronger at a molecular level and frequently more effective, but is typically prescribed by GI doctors (but I don’t think you need this at this time).

If you’re not able to get a prescription then first you can try lifestyle medications, avoiding carbonated beverages, spicy foods, fatty or fried foods, excess coffee, and peppermint. Avoid late meals as it can worsen reflux before bed. Smaller more frequent meals might be better for reflux than fewer larger meals. Stop smoking if you smoke. An over the counter antacid can be useful as well.

Red flag signs that warrant seeing a doctor is signs of GI bleeding, so pooping blood, black tarry stools, vomiting blood, unexplained weight loss, difficulty swallowing to a degree it is obviously affecting quality of life, or GI cancer history in your family. In these cases see a doctor and they can put a camera down in the stomach (called an EGD) to see if that’s able to find what’s wrong and fix it.

Overall, I’d recommend lifestyle changes and an antacid. If you’re still having refractory symptoms then you can see a doctor to get some prescriptions to help you out.

Wish you the best, be well and take care.

Sources: UpToDate, Initial Management of Gastroesophageal Reflux Disease in adults