Need to Find A Specialist

My whole life, I thought I was crazy and so did everybody around me. Everybody thought I just had an eating disorder. I was told over and over to get over myself and be tougher to the point that I stopped telling anybody that I was hurting because I was tired of hearing how it was my fault. I convinced myself that it was all in my head to the point that I stopped noticing things like my hair falling out. My family didn't speak to me for 4 years because they just thought I was a bad kid being rebellious. Then my younger siblings started having the same symptoms I do.

I am tired all the time. Sometimes it's hard to do anything, hard to even handle standing. I get debilitating migraines. My back hurts. My arms, shoulders, and upper back are all sore for no reason. My lower legs get this pain that feels like I have a blood cot but it's not a blood clot...it's hard to explain. It comes with numbness and tingling. One time my right foot fell asleep for 5 days straight and I couldn't feel or move it. I get swelling in my hands and face. My belly swells up to the point that I can't sit or move comfortably; I've measured differences of more than 5 inches just from swelling in my abdomen. It's gotten so bad that in the space of 3 hours I went from looking normal to looking 8 months pregnant. I've had uncontrollable twitching in my eyelids before.

Sometimes I get extreme hot and cold flashes, where I go from feeling like my brain is melting out of my ears to being freezing cold from the inside out so that I can stand in the shower as hot as the water will go and still be shivering. The cold part can last for a half hour at a time. My tongue has lesions on it that look like it's been eaten away in places, and I've had ulcers at the base of my teeth before; my gums got inflamed, receded, and were extremely painful and I had that as reoccurring episodes that took about 2 weeks to heal each time. I have to use hypoallergenic deoderant now because normal deoderant actually burned my skin and gave me rashes. I either have no periods (I currently haven't had a period in over 3 months), or when I do have them, I get cramps that are completely unbearable.

The worst thing is that I have had a lot of what I believe are focal-seizures. I can't make it through a day at school without having at least one. And I get periods of extreme panic, and personality changes. Sometimes I cannot handle anything at all, I'm irritated, jumpy, overly emotional, and I can't stand myself or anybody else. My nerves are on edge and I can't snap myself out of it no matter how hard I try. I have trouble focussing. There have been periods of time (usually about 6 hours) where it's like I have a fever in my brain and I can't control my reactions to anything. I lose my ability to read or to process things that people say or respond coherently. I can't explain this at work and have lost every job I've ever had because of it. When I'm like that sometimes I can't focus my eyes.

Specifically in response to dairy products, unless I take a special pill for digesting casein, I go into respiratory distress. Before I figured out what was causing it, I had fits of coughing all night where I would cough so hard I'd throw up on myself, and would wake up with my lungs aching feeling deprived of oxygen the next morning. I coughed so hard that I gave myself a hernia (I pushed my stomach through my diaphragm). That at least I have tests from an ER to prove.

That's all I can think of just off the top of my head. There's probably more.

My mom's theory is that I have an auto immune disease. It appears to be genetic. All of my siblings have symptoms, and those whose HLA-DQ's are the same or similar seem to have the closest patterns of symptoms. We cannot find a doctor who specializes in auto immune diseases to help.

I really need an official diagnosis, at the very least. All I can handle is survival, and that I'm not terribly successful anyways. I am not thriving. All of this sounds like I should be 80 years old. I'm not. I am 23. I do not want to live like this. All of my friends already have bachelor's degrees, and I'm stuck. I thought I could possibly do better this semester at school because I am trying all this naturopathic diet stuff, but I barely survived the semester and I had a seizure in class practically every day. I was so ashamed that I couldn't talk to any of my classmates and didn't make a single friend. I don't know what to do.

My siblings and I are managing symptoms by taking a lot of naturo-pathic supplements (I take a minimum of 50 pills per day). Also, those of us who are worst off can only eat a very limited diet to avoid inflammatory foods. We tried the paleo thing, and it doesn't work for me. All I can eat is eggs, chicken, milk that has nothing added to it at all, celery, unprocessed sea salt, ice burg lettuce, golden delicious apples without the skin, white potatoes without the skin, white rice, bananas, avocados, and green pears with no skin. That's it. No sugar, so other fruits, no caffeine, no nothing. I arrived at these things by having to progressively delete things off my diet because they caused me to have reactions. It's depressing, and because it's taken so long I no longer trust that the symptoms won't just start coming back after a while on this new diet.

Is there anybody out there who knows what this is? Or has similar symptoms? Or knows an autoimmune specialist who can take on new patients?

I think you're in a poor position to deal with this problem...

I don't personally know your possibilities, but it sounds like a combination of issues, and since your sisters appear to have it I would suspect something hereditary...

AS much as I normally hate recommending it, but have you avoided glutin?

Have you been screened for thyroid problems?

My personal advice is to seek real medical advice (not naturopaths (not that they're completely ignorant)) and get yourself in a position of more aggressive diagnosis... IMO you've tried the soft approach, so now it's time to figure it out once and for all...

Also... I severely doubt auto-immune disease... You'd have infections coming out your @** (literally) if they were left this long...

Consult a real doctor and get a referral... Maybe keep your mom out of it... It doesn't sound like she knows her a** from her head (well-meaning as she may be...).

My girlfriend is from a similar situation with parents in the states and her healthcare here has been a drastic turning point for her just because she's had greater access to doctors, referrals, and testing... Not to spark a healthcare debate because I honestly don't care, but if your major treatment is coming from a naturopath I'm extremely concerned...

I suspect an auto-immune disease, look up 'lupus' in depth you tick many of the symptoms, I'm no doctor mind just trying to help you figure it out.

Have you gone to your GP with all your symptoms and have you been tested for anything? If not, that's where you need to start. Generally speaking, the general physician will set up initial tests to figure out what's going and then refer you to an appropriate specialist. In fact, they can be very good at ensuring that you are seen immediately and don't have to sit on wait lists for months.

I have tried going to doctors before. I have not been taken seriously.

I did have an EEG to test for the seizures, but it's a terribly uncomfortable embarrassing and expensive test that you can only wear for 72 hours at a time, and I didn't happen to have a seizure in those particular 72 hours so the test was $9000 of useless. Sometimes I go for weeks without a seizure. It isn't exactly in my control.

I have been referred to psychologists and psychiatrists over and over again. I've been through eating disorder rehab. I really do not believe that I have a mental problem - evidence is the fact that my sisters whom I had not seen in 4 years spontaneously developed that same patterns of symptoms while I was not around them.

My sisters have been to more doctors. They've been referred all over to different specialists and not gotten much help. One sister was diagnosed with Crohn's disease and Rheumatoid arthritis and proscribed steroids for all that. The problem is doctors won't proscribe steroids for long term use because they destroy your liver. However, when any of my siblings take the steroids all our symptoms go away. Which is evidence that this is probably auto-immune.

I do not eat gluten. One thing I did objective and definitively test positive for is Celiac disease. All my siblings and both my parents have Celiac. Unfortunately, all of those symptoms I listed are still happening when I'm definitely not eating any gluten at all. The only grain I ever have is white rice and am super careful about where I get it.

You don;t just get infections all the time from an auto-immune disease. How they work is that your body's immune system doesn't recognize the proteins on the outside of your own cells, so your body attacks your own cells. Which causes all the symptoms I've listed. As far as lupus goes, what we have is a lot like lupus. But none of us have the characteristic "butterfly rash" which is problematic for a diagnosis.

You need to DEMAND tests, if doctors don't listen you HAVE to make them listen you can't go on like this-if you get a diagnosis more chance of treatment and treatment could give you some of your life back and get these terrible symptoms under control for you. demand a CRP blood test to check for inflammatory markers if you haven't already, if they are high you then have reason for the doctors to investigate. Others tests are Anti-DNA antibody test and ESR blood test.

There is no such thing as a doctor that specializes in autoimmune diseases. Every specialization in medicine (such as dermatology, gasteroenterology, endocrinology) deals with autoimmune diseases that afflict parts of the body in their area of specialty, but they only look for those abnormalities under their own umbrella. For instance, an endocrinologist will look for autoimmune diseases of that system (endocrine) and a rheumatologist will look for rheumatological autoimmune diseases.

Your best bet is to get complete workups from a general practitioner, but because your symptoms are all over the map, involving every system, it's highly likely that you'll be referred to a battery of specialists. I would go and see them in order to get information and have things ruled out, but I'm going to bet no one illness defines this. It sounds like a lot of things could be going on.

One thing I would strongly urge you to do is talk to your naturopath -- because most conventional doctors do not believe in this -- to get you tested for Lyme Disease through the lab Igenex. I am not affiliated with this lab in any way, but it's considered the most sensitive lab testing for Lyme. The standard tests are not sensitive and specific enough, as believed by "lyme-literate doctors". Do some research on this at

The fact that you have widespread symptoms and a lot of neurological ones suggest you may have this and not know it. Lyme is a parasitic bacterium that can cause diffuse immune dysfunction and mostly prefers joints, connective tissue and the nervous system. I'm not saying this is what you have, but you might, and it would be good not to have to go through years and rounds of doctors without knowing if you do have it. Of course, there may be hereditary elements too. Whatever you have, you can guarantee that it is a complex disorder stemming from multiple contributing factors.

There is no such thing as a doctor that specializes in autoimmune diseases. Every specialization in medicine (such as dermatology, gasteroenterology, endocrinology) deals with autoimmune diseases that afflict parts of the body in their area of specialty, but they only look for those abnormalities under their own umbrella. For instance, an endocrinologist will look for autoimmune diseases of that system (endocrine) and a rheumatologist will look for rheumatological autoimmune diseases.

 

Your best bet is to get complete workups from a general practitioner, but because your symptoms are all over the map, involving every system, it's highly likely that you'll be referred to a battery of specialists.

This is exactly what has happened to my sisters. They've been to tons of different doctors and keep getting referred around in circles...Nobody has a real answer. Unfortunately, I do not have a lot of power in solving this. I have no money at all of my own and my health insurance is through my parents. My mom will definitely not consider that this could be Lyme disease. Plus it does seem to be genetic. If Lyme could be spread congenitally that would make more sense but from what I know about it it's spread by ticks. I go hiking and could get bit by ticks, but my siblings do not.

I actually do not have a naturopath. This sounds kind of ridiculous. My mom orders naturopathic/hollisitc type of pills online. They do seem to be helpful but just not enough.

You may have been bit by a tick (or other vector, now they believe mosquitos and certain fleas and flies can transmit it, too) and gotten Lyme of top of the congenital/hereditary issues you have, and it's making it that much worse. There are definitely genetic weaknesses that will make a person's immune system behave more aberrantly with Lyme. Also, you can't be sure your siblings did not get bitten along the way, though I admit that would be rather coincidental. Their symptoms may look the same but have multiple other causes, so your guesswork isn't going to amount to much.

I went for years thinking I couldn't possibly have Lyme. I have carried a diagnosis of fibromyalgia for most of my life, and it was supposed to be that. Tested negative for Lyme on basic screening panels. Then 4 years ago, a doctor who suspected it might be at least part of my host of problems got me tested with that lab and I am positive. It's a controversial test, which some infectious disease doctors don't buy into, but they are ignorant.

So the question is, do you want to write off something even without a test to see whether or not it could be part of your problem (or all of it)? Or do you never want to find out? It costs some money to take that test, so you'd have to convince your mom it's worth it (unless you wait until you have your own money to spend on it). I say, what's the harm in taking a test? The worst it can be is being back to where you are now with no answers -- the best it can be is a flashing neon sign of a problem being overlooked.

You should educate your mom about this -- show her the ILADS website. There are hundreds of prestigious infectious disease researchers who would consider this a possibility with you, and I think they trump your mom's medical knowledge. You don't have to answer the question, "Well then how come my siblings also have it?" That mystery doesn't matter at this point, it's too complicated of an illness and you go hiking, so you could have been bitten. You just need to answer the question, do I test positive for this parasite and its co-infections by a sensitive lab that specializes in this. You may not even have Lyme, but another tick-borne co-infection (babesia, bartonella, etc., which they test for). So many of your symptoms sound like a neurologically-mediated immune dysfunction, and that makes an infection quite suspect.

Many progressive doctors actually believe that "stealth" infections are the underlying cause of autoimmune disease -- because they "turn on" the gene switches to start attacking body tissues. They see your own tissue as invader because your immune cells have been tricked by the pathogens. And Lyme is actually one of the fastest-growing epidemics in the country, but it is so poorly recognized because of the various controversies, and a lot of people are remaining undiagnosed and/or ill. I don't know what I am going to do yet about my diagnosis, but if I've had Lyme all this time (nearly 3 decades), I wish I had known about it sooner. You're going to spend a large fortune on naturopathic supplements that don't end your misery, and lots of time in useless doctor appointments and psychologist sessions, on the current path. Not that you should bypass getting the workups suggested -- you should rule out anything concrete. But if you've already seen the specialists and they think nothing is wrong and don't think you have an autoimmune disease in any specialization, you have a problem, don't you? There is no specialist that will treat your entire body and every organ/symptom for a single autoimmune disorder.

It's even possible that your mom may have been infected while all of you were in utero.

I know all this sounds really out there, but you are not going to find a single unifying theory for your illness or a name for it -- as you can see. The closest shot you have is some kind of infection that's turned your body against itself in multiple systems.

I've gone through this myself, so I know something about how much longer you're not going to have answers, and it's going to be pretty much indefinitely, so might as well try some ingenious and unlikely ideas. Worst case, as I said, you hit a wall with no answers, which is what you have now.

If your mom has any naturopathic sense, she should take you to a naturopath so they can do a more thorough, objective and knowledgeable workup, and this (Lyme) can be brought up. She shouldn't be playing doctor. She needs to spend the money on someone who is trained in medical school.

Here's my 100% advice... Stop screwing around with forums and consult a real family physician... Find someone you can establish a solid relationship with who will advocate on your behalf.

Get preliminary tests done, if they come back negative then continue discussing possibilities...

The idea that you caught lyme disease from hiking and spread it to all your siblings, but not your mother is silly (so is the idea that you all independently caught lyme disease)...

Even an auto-immune disorder... Things don't line up, because it sounds like your parents are alright...

Saying that symptoms indicate lupus is like saying whoever smelt it dealt it...

Furthermore, a genetic issue where neither parents are affected, but ALL offspring are effected is extremely unlikely (especially when it's consistent between multiple kids)...

To be completely honest, I think you've been given terrible care throughout your life which has caused extreme and unnecessary complications (ie. hernia, at your age). The fact that your mother seems to fancy herself an amateur naturopath/doctor doesn't fill me with confidence...

As I said, establish a relationship with a real doctor, and do what you can to establish self-dependence over your own medical decisions...

The idea that you caught lyme disease from hiking and spread it to all your siblings, but not your mother is silly (so is the idea that you all independently caught lyme disease)...

Just to set the record straight, I never said any such thing. You can't spread lyme disease to others casually, as it's a bloodborne infection.

What I said is, there may be a hereditary predisposition for certain illnesses, and that the OP may have gotten lyme which is exacerbating these symptoms or has served as a trigger for them, and perhaps in the case of siblings, they had other "triggers".

It is also not impossible to have a number of people get lyme in a family. I know of doctors who have had to treat their entire family for it.

You do not need to hike to get lyme.

And at the end of the day, all I said was that a specialized lyme test (from a lab that is considered more sensitive and specific, the one I mentioned in particular because it's widely reputed) would at least look for this possibility. I didn't say not to look to rule out other things with a physician, and in fact advised the OP to do so, but why NOT take a lyme test (and its related coinfections) that is considered more accurate by many doctors treating less easily recognized?

It sounds like the OP has already visited at least a GP, and also some specialists, and so far, nothing has been identified.

The OP saying she has mini seizures and feels like her brain is on fire, and the peripheral nerve manifestations are actually classic neuroborreliosis symptoms, aka "chronic late-stage lyme", and possibly some of the coinfections that come with lyme (the tick or whatever vector carries along other parasites oftentimes, along with lyme itself).

I would leave no stone unturned and don't know why anyone would want to dismiss a possibility when no answers are being found. Again, I am not saying the OP has lyme -- I'm say, check it out as you would anything else, and don't use the crappy standard tests that are run because they do not find a high percentage of cases.

My 20 cents.

My parents and their siblings and parents are realistically not alright. My mom's family has a lot of severe mental illness in it that could realistically be caused by a physiological disease because they certainly have never been tested or treated for anything. My maternal grandfather has early alzheimer's. His mom had severe dimentia before she died. One of his sisters has agoraphobia and an eating disorder. The other is a full blown hoarder and has a slightly less severe eating disorder. My mom doesn't really admit to any symptoms other than inflammation and fatigue and anemia and such things. That doesn't really mean she hasn't got any other symptoms. My dad has a lot of anxiety and has so much inflammation in his back that he's had disks collapse, is in chronic pain, and has had nine major back surgeries. He has classic celiac disease that is diagnosed. All my parents siblings have arthritis as far as I know. My mom has had thyroid and skin cancer. Some relatives are infertile.

I am definitely keeping the Lyme disease idea in mind for when I finally get to see a doctor (this is not up to me). I specifically know that I definitely have been bitten by one tick at least. I removed one from my skin a few years back while in the shower. I used to be a dog groomer as well as I am quite familiar with what ticks look like.

My little sisters have doctors appointments coming up soon and if they go well hopefully I will be able to see one of those doctors. The pills my mom buys are apparently very very expensive, so hopefully that gives some incentive to get real help soon.

I was not in contact with my family for four years and during that time I did see some doctors on my own. All with no results because they were too busy referring me to psychologists. Plus I couldn't really afford too many tests. When I had an episode where I couldn't feel or move my right foot for five days, I went to an urgent care and tried to get help. This was a very serious problem, I was very distressed by it, and it impaired me from driving and working. Still, when they recommended an MRI, I could not get one because my insurance said that was an "elective" procedure (AKA, not necessary) so it wasn't covered.

In case anybody is interested, I found out what I have. My family found a specialist and I and a few of my siblings are going to be in a research study about it. I have Mast Cell Activation Syndrome and Ehlers-Danlos Syndrome. They go hand in hand so if you have one you almost always have both.

That's really fascinating.

I'm glad you found the right specialist and finally identified what you have! May I ask what sort of specialist you saw? Sounds like someone who might have knowledge about rarer diseases.

Were you diagnosed by genetic testing?

What sort of treatments and prognosis can you expect?