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Male, 23, Possible Autoimmune Issues, Difficult to Diagnose
Hi there,
I have been struggling to receive a diagnosis for quite some time and my condition is getting worse; I was hoping someone here could point me in a direction as the many doctors I have seen seem either confused or dismiss my symptoms as anxiety.
I am male, 23 years old, 5'9 roughly 150lb. Three years ago, I became extremely fatigued and had difficulty swallowing for no reason that my doctors could identify. I was in college at the time and I struggled to eat but would force myself to as best I could but steadily got worse and ended up catching a series of unknown viral infections several months later (perhaps from being so worn down). I moved home after graduating from college because I was so sick and ended up being diagnosed with mono. Because I was positive for EBV, I was told there was not much I could do but wait it out. I got progressively more and more fatigued (as expected) but after a year my energy level had not returned and I began experiencing a constellation of other symptoms. I started having a range of digestive problems and had a number of tests done that revealed little in the way of diagnosis.
Since then, I have developed a number of other issues: brain fog, difficulty speaking at times, more problems with swallowing, mouth ulcers, full body tremors, mood swings, loss of sensation in my limbs, poor circulation and worsening of my Raynaud's phenomenon (which I have had for several years), cloudy urine...the list goes on.
Some tests I have had that did NOT reveal any issues: endoscopy, colonoscopy, celiac serologies, many cbc and metabolic panels (always normal aside from when I had acute viral infections two years ago), gastric emptying test, abdominal ct scan, tests for Lyme/HIV/STDs/other infectious diseases, small intestinal bacterial overgrowth test, C reactive protein, urinalysis (turbid urine but no evidence of anything off aside from the cloudiness), and some other miscellaneous lab work.
So far, the only tests that have come back abnormal are: esophageal manometry test (shows I have dysmotility of my esophagus), very low ferritin levels (which used to be normal at the start of things), reduced sweating from autonomic testing and signs of peripheral neuropathy (though I am waiting for results of small fiber neuropathy biopsy which takes some time), low complement c4 levels at 11mg/dL (but normal c3 and two negative ANA tests six months apart).
My doctors have thrown dozens of medications at me along the way to try to manage the symptoms but I admit I'm resistant to this strategy as I have historically reacted poorly to medication (and they bring their own side effects). Currently I am taking 20mg of Prozac (I had been on Celexa but did not respond well to it and had constant panic attacks) with no improvement. I take 300mg of Zantac once a day (I took Prilosec for nearly a year at the suggestion of my gastroenterologist before researching some more and realizing this was not a great thing to be on in the long term, especially if it was not helping). I also take a men's once a day multivitamin, fish oil supplement, a gentle iron supplement that is vegetable based (again at recommendation of doctor, though this seems like a way of covering up the problem that my ferritin is low rather than identifying the cause).
I lift weights recreationally at home about 4 days a week and do yoga usually once a week; unfortunately I struggle to incorporate cardio into my routine now because I get so worn out afterwards that I end up sleeping for hours/days. When I try to get up and go on walks, I feel very distant and depersonalized like I am behind a screen which is a very scary sensation. I sleep extremely long hours and often need naps throughout the day, and cannot work (this is hard for me because I am a young guy and worked very hard in school; my quality of life has been reduced to almost nothing). My vitals are generally good at the doctor: bp fluctuates somewhat but never in dangerous territory, resting heartrate usually in the high 60s/low 70s, no fevers since the mono three years ago.
I realize this is a lot of information but I wanted to be thorough. It has been such a long and upsetting journey for me - to work your hardest but feel like you are in constant discomfort and exhausted. My doctors right now seem to think "there's something going on, we just don't know what" and the intervals between appointments can be months. There are days when I am so miserable I just want to go to the emergency room, but I have done that before and they don't do any tests aside from the basics and then discharge me with no way of coping. I also am putting such a financial burden on my family with the costs of my healthcare.
I have had to learn to advocate for myself throughout this process, to let people know that even though they don't see anything wrong in the easy tests that I FEEL horrible. It took two years of people saying it was "just anxiety" when I said I was having trouble swallowing before someone ran a manometry test and found there were some functional issues. So I end up having to research on my own and try to get my doctors to look into things when they want to just sent me out the door with medications. I was wondering if my symptoms could be something autoimmune? I feel very strongly that my symptoms are consistent with things like systemic scleroderma (raynauds, esophageal dysmotility, low c4 complement) or even multiple sclerosis (with the tremors and visual changes, EBV history, etc.). But no one will order an MRI of my head. And the ANA was negative so no one wants to look further into collagen vascular diseases. My neurologist seems to think I have damage to my autonomic nervous system, which is also very scary (reduced sweating function, constantly dilated pupils).
Does ANYONE have an idea or hopeful comment that could help me? I know my anxiety is out of control but after three years of misery and a downward trajectory, can you blame me for worrying? I just want to get better but it seems all the things I am likely to have are lifelong and I don't want to live this way anymore.
Thanks,
Dash
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A lower than normal level of ferritin can be caused by low iron, do not take supplements have doc test your Iron levels, You might be anemic?Iron can be dangerous to men, I'm a woman who is anemic can't take iron makes my limbs heavy! Chelated magnesium is for nerve health ,do you eat a lot of leafy greens? Their is no clear test for magnesium deficiency but if your at the low end of blood test you might need it ? Got it on amazon. I suffer from autoimmune but got diagnosed in 2009 while under a lot of stress ,So I had confused docs also I enrolled in eastern western med school, Their are a lot of idiot PhDs out their just google your results and right them down and hand them to Doc, have you been tested for diabetes? You should! not the A1C but 5 hr test much more accurate ! God bless you hope you get well peace Deena PS magnesium makes you drowsy take at bed time and wake up with out anixety Google magnesium defficent
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1 ReactionThanks, I did have a full iron workup and my iron is normal, just ferritin (stored iron, I guess) is very low. The doctor has me on Solgar Gentle Iron, which is only 25mg and a vegetable-based supplement so it should be mild. I am not sure about the magnesium thing but I will ask my doctor at my next appointment. Thank you @mrsdeecee
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1 ReactionHi @dash99999,
I'm sorry to hear your suffering - been there, done (and doing) that. As someone with early AI (autoimmune immune) disease, please be prepared that your life may not return to how it was before. Everyone is different, but your immune system has been altered. I was in denial, and see-sawing for years, before sh*t got real. I have friends that take their meds and have no symptoms.
The moral of this story is PATIENCE. So hard a virtue, indeed.
Based on your story, it sounds like EBV activated AI disease - which is common and one of the prevailing AI genesis hypothesis. Lyme disease (I was a rampant outdoorsmen) kicked off my AI disease, but I always sick as a kid and had a weak immune system to start. So it just took advantage of the situation.
From my own experience your symptoms sound like they could be from any of the following (no specific order):
- Sjogren's Syndrome
- Hashimoto's (aka Autoimmune Thyroid Disease)
- Celiac (seronegative Celiac is rare but happens)
- Lupus
- Crohn's
- Pernicious Anemia (low B12)
- SIBO (which is usually secondary to AI dysfunction, not the underlying problem.
- CVID
Common variable immune deficiency (aka CVID) is also a possibility. AI diseases are often an extension of CVID. You would need to see an immunologist for that workup. If you are low on IgG (gammaglobulin) you can get regular infusions that can help with immune dysregulation. Higher doses have an anti-inflammatory effect similar to steroids, and are often used as a starter course of 3-5 days consecutive, then once every 3-4 weeks.
Note - all these diseases overlap quite regularly, it is not known why.
I can offer a few points of advice from my experience, and I hope my verbiage doesn't dilute the message. Hope you find some nuggets of "wisdom" that are helpful. No young man should suffer like this.
1 ALL TESTING FOR THESE AUTOIMMUNE DISEASES ARE INACCURATE.
E.G. I've been positive for months for ANA, then negative for months. Doctors cannot say why.
Our scientific understanding of the immune system is improving. New, exciting, hypothesis are being developed everyday. No shortage of research. But clinical application of this research is years away... unfortunately.
2 RESEARCH IS YOUR ALLY.
Should you choose to do your own research, the following sources are far and away the best sources:
- Pubmed
- Medscape (professional version, free if you register)
- Wikipedia (great place to get the basics, sh*t is confusing!)
Best not to rely on anecdotal testimonies, such as blogs, and especially personal blogs that are selling something - whether a brand personality, or supplement and books through Amazon, etc. Sometimes blogs are just people's convoluted hypotheses that are benevolently disseminating mis-information. People with chronic disease often find control/power of their disease by over-identifying with it and feel the need to spread their "gospel".
Don't discount them 100%, just use a critical analysis, and keep a big grain of salt next to your computer.
Take chat groups - including this one, and my advice - with a grain of salt. A good scientist is always skeptical, because "new sh*t", as the great Lebowski said, "always comes to light". There are usually NO easy answers or solutions. We are all doing our best, including the doctors who may post.
Nonetheless, it is very important to swap ideas to gain knowledge. Knowledge is power!
Find groups you feel are not quasi-scientific, or cliquey and dogmatic. If you connect tot the right people, who are informed, they can best help you, both with medical info and emotional support (don't discount that).
2. FINDING A TEAM OF DOCTORS - THAT WORK TOGETHER, (E.G. SAME HOSPITAL) - AND WHOM YOU CAN DEVELOP A LONG-TERM RELATIONSHIP WITH IS KEY!
When you have a multitude of symptoms - neurological, gastro, etc, you end up with a lot of specialists. Continuity with doctors leads to knowledge of your unique, individual scenario, helps develop mutual respect and trust, and usually a friendship - the doctor really cares for your well-being. Those are my pre-requisites for working with doctors. If they don't meet those conditions within 1 year, I leave, and get a referral from one of my existing doctors. Not that I immune to 2nd opinions when necessary from my team either.
I find it best to approach doctors as scientists, not healers. That is the language the speak. The more rational you are, the better studied, the better the consultation will be. For years I have printed out a list of bullet points of what I want to speak to a specific doctor about (in part so I don't forget anything), and give them a copy so they can comprehend it both by reading and listening.
3. MY APPRAISAL
1 SMALL FIBER NEUROPATHY (SFN)
SFN is peripheral neuropathy. This can deregulate your whole system through autonomic and parasympathetic nervous systems (subsets of peripheral neuropathy system). SFN is best diagnosed by biopsy, if you had reduced sweat test positive, I'd be shocked if your biopsy was normal. Therapath is the standard lab. See if your results were sent there.
2 SJOGREN'S
SFN is very prominent in males with Sjogren's, which is a 80-90% female disease, with about 20% (professional guesstimate) of patients having SFN. I had seronegative Sjogren's with SFN long before (years) I had the traditional SICCA symptoms, of dry mouth and eyes. Stomach dysmotility issues are often seen in Sjogrens's. I still have seronegative antibody testing at times, though my doctors are all in agreement I have the disease.
Best serological testing is SS-A and SS-B tests. Do not bother with the lip biopsy, waste of time!
3 LUPUS
The Raynauds is and low C4 complement are signs of Lupus. There are multiple type of ANA tests for Lupus (ANA is used for Lupus but not specific for Lupus per se). Lupus is very multifaceted in it's appearance. It's also a predominantly female disease, and you can be seronegative.
Again, I have fluctuating positive and seronegative antibody testing for ANA at times.
I don't know enough about Lupus to say much more. There is a lot of good info on the web to inform yourself. Only thing I can unequivocally advise is seeing a rheumatologist if you haven't. Also test Rheumatoid Factor (RF) as another biomarker for Lupus.
4 HASHIMOTO'S
Hashimoto's, aka Autoimmune Thyroid Disease (AITD) is another disease to look into. I have had antibodies against Thyroid for years, but my thyroid tests were "in range", which I found out doesn't mean much. You must find an endocrinologist who views patients on a case by case basis. The standard ranges are not agreed upon in the community.
I tried Synthroid for Hashimoto's caused hypothyroidism 5 years ago, and quit it. Now the hair has fallen out of my legs (I'm a 39 yr old, hairy male), I am freezing all the time, and have trouble ejaculating (sorry for the TMI). I just restarted Synthroid, despite my thyroid levels being in range. There is TSH, T4 free, T4 total and T3. I was low TSH, T4 total and T4 free. My immunologist did not see it as being hypothyroid secondary (or subclinical) to AITD.
Serological testing for Hashimoto's (AITD) include TPO, and TgAb.
Like Sjogren's, AITD can cause all sorts of hard to pin down problems. Stomach problems and fatigue are often paramount. If you see an endocrinologist (most of them suck btw, so shop around) it is also worth testing your testosterone (T) levels. T levels are often low in young males with AI diseases like are usually found in females, including AITD, Lupus and Sjogren's.
5 CELIAC
This is a TOUGH one. I was scoped and found to be clean, but only recently found that one can be seronegative, especially if they have an underlying immune dysfunction.
The only real test for this 4-6 gluten free diet, which is very hard. Especially when you have stomach issues and carbs seem the easiest thing to digest.
Celiac can cause SFN.
6 SIBO
You said SIBO was ruled out but the tests are not accurate. The antibiotic Xiafixin for 3-4 weeks is most effective. My GI just turned me on to Antrantil, which is a supplement but have not tried yet. Low ferritin is often seen in SIBO.
FYI once you have SIBO it often comes back.
7 CROHN'S
Your case does not sound like Crohn's, but Crohn's can often express itself variably. Since you've had GI workups, I would advice seeing a rheumatologist for a 2nd opinion. But I would keep this in the back of your mind, but look into the other diagnoses I listed above first.
8 ETC
SUPPLEMENTS: General note, I'm wary of supplements. You really don't know what you are getting because they are not FDA approved and the consumer protection is horrible in that industry because of lobbying.
For probiotics I trust Florastor, or Jarrow's products. BTW there are many types of probiotics with different effects. Not one size fits all. Jarrow's makes good supplements in general IMO. One of the few brands I trust. I use their Curcumin, a ginger based plant product that is used to make Turmeric.
ANTI-DEPRESSANTS: They are not a solution, but a tool that can be helpful at times. If you can handle the fatigue and dryness that comes with TCA's, I'd try Amitriptyline or Nortriptyline. These have a good track record of helping SFN and stomach dysmotility. Unfortunately they are too fatiguing and dry me out, but IMO they are worth trying. Low risk/benefit ratio.
SSRI and SNRIs will not directly help AI issues IMO, but can offer emotional support. Talk therapy - with a professional, family or friends - is better.
PROTON PUMP INHIBITORS (PPIs).
I like Prevacid - or it's long release version Dexilent - MUCH better than Nexium or Prilosec. I take Zantac also, but Zantac is an H2 blocker (H stands for Histamine), and it works much differently than PPIs. Most people find PPI's more effective.
I would think about trying Prevacid 30mg once a day or 15mg twice a day to start. OTC generic available.
PPI's work best if you wait 30-60 minutes after you take them to eat. It activates the medication. Most doctors don't know this. Dexilent (no OTC version) is the only PPI that you don't have to wait after you take it because of it's slow release mechanism. More is less with PPI medications - you want to be able to make some of your own acid naturally. So taking it once a day is ideal, and not taking for more than 4-6 weeks at at time, unless absolutely necessary.
If you have bad reflux, you have to change your diet! Stop/limit coffee and chocolate. They are delicious killers!
Keep alcohol to a minimum as well. Bad for reflux/GERD and neuropathy.
Fried food is a total no-no.
EXERCISE: Exercise is GREAT! Keep it up if you can, but don't over do it. Your body needs more time to recover since it is in a diseased state.
9 EPILOGUE
I have to get going... running late now.
The esophageal manometry test and low ferritin tell me there is an obvious there is a stomach issue, but what cause? It may be from SFN, thyroid, Sjogren's... it's so hard to say. You have to shake the tree and see what falls out. Trial and error.
Hit me up if you have questions brother! Wishing you health and happiness and hope I can help you from my experience.
Best,
Nathaniel
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3 ReactionsHey dude... thinking about it more (I missed my appt. because I wrote such a long reply! All good).
I think your symptoms fit Lupus best.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918207/
https://www.ncbi.nlm.nih.gov/pubmed/7842532
https://www.ncbi.nlm.nih.gov/pubmed/27504292
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826706/
Should see a rheumatologist, and start on immunosuppressants to bring inflammation down. They will probably suggest low dose Prednisone (steroids) or Imuran. Rituxan may be a choice, and can be an AMAZING drug.
I think Amitriptyline or Nortriptyline are worth a try, and risk/benefit ratio much better than immunosuppressants.
GI issues would try PPIs. Lyrica is good if you are having SFN pain.
Don't start too many meds at once, you want to stagger them so you can monitor what is working. Remember, it's all about patience. Truly.
I'd maybe see an immunologist for a run through, if the rheumy is not up to running all the tests. I can give you list of tests to ask to run. Remember, the doctor works for you. No reason they shouldn't run tests requested unless they are not familiar with tests and cannot adequately interpret.
Do you have a rheumatologist? If not where do you live? I can try to find someone if needed.
Hit me up!
Feel well,
Nathaniel
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1 ReactionHello @dash99999,
I'm so sorry that you are going through all this! I'd like to welcome you to Connect, and assure you that you have come to the right place to get much-needed support.
I would really encourage you to view this page from Mayo Clinic, about esophageal spasms: http://mayocl.in/233Vnmg, and I hope members @debsut, @grannysunshine9, @patti1, @jillcresap, @kaz75, @ladawki143 will return with more information.
You also mentioned fatigue, and Connect has a recent discussion on autoimmune diseases and fatigue: http://mayocl.in/2aa7M7r
@dirtyred, @sebley12, @brie87144, @wesbig, @crhp194, @dogmamat, @soltis4590, @debdeb, @meghan33, could you share some insights that might help?
@dash99999, how have you been coping with all your symptoms, especially in terms of diet, and lifestyle changes? Have you considered getting a second opinion?
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1 ReactionHave you considered NCGS? Non Celiac gluten sensitivity. I have full blown Celiac and everyone in my family tests negative. Many are now on Paleo and gluten free diets and many lifelong symptoms have vanished, mostly terrible migraines. My recommendation is a "whole30" diet, Google it. See how you feel after 30 days and then reintroduce foods slowly to see what brings back your symptoms. Celiac seems to be so hard to diagnose but it doesn't mean that it is not a grain related issue. Celiac is the mother of all evil when it comes to wheat barley and rye. But other grains could be bothering you like oats corn or even rice. AIP is also a great idea. Very clean eating.
Good luck!! Read "Jennifer's Way" book by Jennifer Esposito. Maybe get a DNA kit and see if you have HLA DQ2 or HLA DQ8. Gluten sensitivity is getting a lot of attention, just never give up trying to find a cause.
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1 ReactionWhere can we find that post from NIH?
Read Jennifer Esposito's book "Jennifer's Way".
Gluten zero, Paleo, or Whole 30, is not so hard. There are lots of great foods to eat and it can be such a healing for your body that you won't crave junk foods (even gluten free labeled junk). Read her book. Give clean nutritious foods a try. Finding out if you have HLA DQ2 or HLA DQ8 would be of some help to rule Celiac out. There are hundreds of symptoms. Never give up finding the cause. A great nutrient packed diet is good no matter what and is really interesting to discover how the body reacts. Good thoughts your way. There is so much hope, we have all been where you are. Hang in there and smile when you can.
I just saw this eye openingTED talk "What happens when you have a disease doctors can't diagnose" by TED Fellow Jennifer Brea who became progressively ill with myalgic encephalomyelitis, commonly known as chronic fatigue syndrome which helped me understand what a lot of people are going through.
http://bit.ly/2nvf21H
Hoping strength and peace for all with this debilitating disease.
John
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1 ReactionI have the mouth issues as well as esophagus issue and vision problems but none of the other problems. I was diagnosed with erosive lichen planus