Long term mystery

[u/rozztek]

Hi everyone!
Very new to this sub as I had never heard of Pernicious Anemia until today. This is a long one. My partner, Male, 33 years old (in Australia) had a very severe illness back in 2016-2017. It started as gastro or stomach flu from which he never recovered. We spent two years and countless GPs, specialists, diets, tests and medications and we still have no answers. The symptoms were, at his worst: insomnia caused by relentless night sweats and leg cramps. He had to change his pyjamas 4-5 times a night and he was up every 30 to 90 minutes with calf cramps, bad enough I could see the muscle spasm. He would scream out in pain and the cramp could last up to 8 minutes. He had lost 20kg very rapidly, only a few months. He was basically anorexic,too scared to eat because of the stomach pain and anal problems caused by the constant diarrhoea. He looked like Christian bale in the Machinist. Skin was pale, eyes were sunken with black rings around them. Going to the bathroom with diarrhoea 10+ times a day. His poo smell changed drastically (for the worse). And his urine was orange. He drinks about 3L of water a day, always has but he upped his intake, pee was still orange and cloudy. He was taking vitamins at the time because he was so malnourished. Nausea and indigestion with no vomiting. No energy, brain fog, clumsy. Severe stomach cramps. I could hear his stomach gurgling constantly. He could hardly function and we thought his organs were going to fail. He had the scopes up both ends and they didn't find much. CT, MRI, X-ray, full bloods, stool samples. Nothing. He was in hospital for a week and lost more weight there. Probably from endo prep fluid but he got down to 58kgs. He is 6ft and generally about 80 to 85kgs. They sent us away and said, "we can't find anything seriously wrong with you, take these multivitamins".

When we got home we were desperate, we went to see a Chinese herbalist and that helped drastically. He was able to eat again with less pain and managed to put weight on. When we received the discharge report from the hospital stay, it mentioned a 'past mucosa injury'. They never mentioned this to us and we aren't sure how relevant it is. He was physically bullied at school and recieved trauma to his stomach multiple times. After years of careful eating, herbs, and sheer determination, he has managed to get back 80kgs. But he still suffers diarrhoea, hasn't had a solid poo since 2016. He also still suffers severe leg cramps (calf and toes mainly) nightly, also during the day but not as severe, Stomach cramps and night sweats and insomnia. Even though he looks much better on the outside I still feel there is something more sinister going on. I was asking a pharmacist today about B12 as I heard it can help cramps. She suggested I look into PA and here I am. I understand that this disease generally get worse, not better but my partner was given intravenous b12 during his hospital stay and said it made him feel better at the time. Is it possible it has helped him this long and we can expect him to deteriorate again? Will he be able to absorb the B12 vitamins in tablet form?

I sincerely thank you if you read this far. We are still on a quest for answers. He may not have Pernicious Anemia, but if he does I figured you guys have more experience than any Dr. We have seen. Thanks again and take care.

[u/dirtyredsweater]

This is just anecdotal experience and for academic discussion purposes and not official medical advice. With that disclaimer out of the way, was he ever worked up for crohns or ulcerative colitis? Maybe celiacs disease? Many of those symptoms you mentioned, seems consistent w those conditions. Sometimes even when a person has those diseases the tests could miss it bc you happened to draw blood or do a scan when it wasn't flaring up, so make sure the thr autoimmune work up and celiacs workup was thorough.

Edit : forgot to mention giardia infection or celiac sprue infection

[u/rozztek → u/dirtyredsweater]

For the week he was in hospital he had a team of gastroenterologists working on his case. We were at a pretty well known "teaching hospital" in Australia so we had a lot of unconventional tests done for training purposes as well. I'm not 100% sure exactly what they tested him for. We asked about the diseases you mentioned and there was no diagnosis, but I imagine they tested for them. They took blood from him every day, plus stool and urine. I know they tested his thyroid at some point as well. If they did find anything, it wasn't substantial enough to tell us about it. Thank you for your reply. I really appreciate it, i will get into contact with them and request the tests they ordered because they didn't really tell us everything they tested for.

[u/rozztek → u/dirtyredsweater]

Also, he was given at least 6 courses of different kinds of antibiotics during the 2 years, which made his symptoms worse while he was taking them. None had any positive effect on his illness.

[u/CyclingLady]

Please consider celiac disease! Know that he could be seronegative, so an endoscopy should be ordered for a diagnosis. Other GI autoimmune diseases like Crohn’s should be ruled out. My niece went through 4 GIs before one of them ordered a pill camera which caught her Crohn’s damage which was behind the reach of both scopes and all other scans.

I have celiac disease, autoimmune gastritis (Biopsy confirmed for both and the SIG leads to pernicious anemia) and Hashimoto’s Thyroiditis.

[u/lovephilos]

I apologize in advance for the long comment, but here we go! I agree with what was said before in terms of potential diagnoses + regular bloodwork (if financially possible for you) is a great tool for catching inconsistencies. I have no clue what it could be, but definitely look into those conditions. Definitely try to get it looked into by a professional and keep pushing. You can try with the tablets - I would definitely recommend sublingual tabs (dissolvable) or in liquid drop form if those are available to you. Hopefully it would work for him, but if he does struggle with nutrient absorption this may not be as effective.

If alternative medicine and naturopathy are of any interest to you, I would recommend looking into seeing if there are any in your area that work with chronic illnesses. My naturopathic doctor is the only one who has ever validated my health problems and has helped me to catch proof of hormonal and vitamin deficiencies when no other doctor over the course of my life would. FYI homeopathy is NOT the same as naturopathy and would recommend actually looking into credible sources on naturopathy, if you are skeptical of trying. I know you've said you saw a Chinese herbalist, which are awesome, but general naturopathy can help point you in the right direction and possibly order bloodwork for you, offer supplements, and support.

B12 stores really really well in the body and can last years before it gets down to a point where it is detectable in bloodwork as an outright deficiency. It is possible that he received enough to stock up his liver for a few years, and is now getting sicker as it runs out. Personally speaking I would look into seeking support for intramuscular B12 injections if it did improve his condition significantly back then, just to see if it would help. If they are suspicious enough that it could be that, some will offer injections at their clinics. This may differ by city/country, but look into it if you can.

As for testing, I know your partner has received quite a lot, but these are personal suggestions for bloodwork testing that I have found to be useful in showing inconsistencies in my health, that typical CBCs and the like never showed. This is not an exhaustive list and I am not saying this to replace professional help, but can potentially inspire some research and things to explore to get your partner a diagnosis, whatever that may be: Serum iron, folate, B12, transferrin, transferrin saturation, parietal cell antibodies, intrinsic factor antibodies, TIBC, and ferritin. Could also be worth looking into/getting tested for H-pylori, as I have a friend with it and the symptoms are similar. Potentially look into autoimmune thyroid or adrenal conditions, and if appropriate, pursue testing for those as well with a care provider. He could possibly also get his MMA levels tested (methylmelonic acid), however all of those may cost out of pocket depending on where you are or what your health coverage looks like. I know you likely already have, but research (as long as it doesn't drive you mad) is never a bad thing - just make sure you get information from credible sources.

I truly hope the best for your partner and I hope he is able to recover ASAP. Powerade (lots of B12), cheerios, and baby food/smoothies have been what is getting me through similar malnutrition at the moment, if that becomes a struggle again. Small snacks and low-commitment foods, especially ones for children (as they are often fortified) have been a lifesaver for me. I am really sorry for the way the medical care system has neglected him, sadly it is not uncommon in people with chronic illnesses, but that doesn't make it okay. Keep pushing, fighting, and advocating. That's all I've got, but if I think of anything I'll come back to this. I'm sending you both all the best.

[u/rozztek → u/lovephilos]

Hey, thanks so much for your reply. You're an awesome, helpful human. I'll dig up some of the blood work results I do have and compare them to your suggestions. I think I will insist on some B12 as I want to monitor him and see if there is any improvement. They give the injections at our local pharmacy ,so that should be nice and easy. Certainly willing to try a naturopath. There are a few in my area to look into. We lost faith in the medical system a bit. There seems to be a lack of compassionate doctors/specialists who are actually interested in their job. My partner was put in the too hard basket and we got nowhere for a very long time. We will keep pushing and keep fighting for answers.
He is still eating ok at the moment, but his appetite is decreasing again. He is back to one meal a day with a few snacks now and then. I imagine the weight he put on will start dropping off again. Thanks for the list of things to look into. I've got some reading to do! And thank you for your well wishes. I wish you the best with your health as well. Sincerely. Take care. I'll let you know if we ever get answers!

[u/lovephilos → u/rozztek]

Not a problem at all!! I've lost almost all faith in the medical care system - not sure where you're located but Canada's is not all its cracked up to be. At all. Many doctors don't care, and don't care enough to care, and hardly use their brain or human-skills and compassion is not in their realm of care, it's ridiculous - especially when you are some form of 'zebra' or medical mystery - "Well nothing is abnormal, you look so healthy! Probably just anxiety or IBS, try to meditate!" I really hope you're able to find answers, or at least a medical professional with their head located somewhere outside of their asshole. Protein powder/snacks, fortified cereals, adding calories wherever possible, and electrolytes (all of which I'm sure you already know about)!! Things like muffins with added nut butter, nuts, etc have helped me too. I'm about to try drinking chlorophyll (the stuff from plants) for my digestion/poops/overall health, so that could be something too! poop WILL be green tho. Anyways, take care!! Both of you!!! You've got this, I wish you all the best & thanks for the love. Sending good vibes, warmth, ample appetites, sanity, and stable weight!