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Disease Dx - any ideas welcome!


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I know someone who had mono 18 months ago. She has never recovered. She has been to every specialist known to mankind, including psychiatrists, and no one can find anything wrong with her.

 

She "feels" she is having muscle loss, cartilage loss, and is dehydrated.

 

She has tachycardia (rapid heart rate), severe insomnia (sleep lab last night; she slept 3 hours); muscle contractions all over especially in her chest; cannot get a deep breath.

 

The pulmonologist gave her a lung function test, said it showed "some restriction" and said he did not believe she was having the symptoms she claims. She did not ask him why he didn't believe her. In any case, her lung problems have gotten worse since then.

 

She is always tired and cannot sleep. She cannot work. She is too tired, doesn't do her job well, and gets fired. She does not have anemia. The extensive blood work done on her many times over the last 18 mos has shown nothing wrong.

 

She thinks she is going to die from this, whatever it is. New round of specialists coming up. She moved to another state, in with family, and is now trying their specialists.

 

Her personality has completely changed. She used to be a peppy, extroverted, cheerleader type (was actually a cheerleader), very athletic and have many interests (mostly socially related). Now she is tired all the time, does nothing but talk about being tired and how she is going to die soon.

 

She has had MRIs, CAT Scans, every blood test known to mankind, X-rays, EEGs, you name it.

 

So can anyone think what this can be?

 

Also, she does not come here. She doesn't know this board exists or enough about me to find anything remotely connected to me on the internet.

 

Thank you for your help,

RC

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Chronic fatigue with epstein-barr virus and probably something else. My aunt had mono which turned into CFS and she went from working 80 hrs/week to pretty much being bed ridden for the past 15 years. If she talks too much, her chest muscles hurt. If she exercises, her muscles get weaker so she can barely move. Her personality changed very similarly to your friend. She is chronically tired but has insomnia. And almost every single dr has told her to take antidepressants and that it is all in her head. She has found 2 good drs that have actually helped her.

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Chronic Fatigue Syndrome. This is very similar to what happened to mean, got mono (EB virus titres were off the chart) and it turned into Chronic Fatigue Sydrome with many of the same symptoms. The interesting thing is that now many researchers think that CFS and Lyme's Disease are related in some way. Treating the symptoms is helpful and some nutritional supplements for sleep and to restore the immune system may help. AHCC for immune function and Corvalen (D-Ribose) for energy may help.

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This could be dysautonomia. My dd and I both have this, and it causes a wide variety of symptoms that can be very strange. I've had rapid heart rate, extreme fatigue, slow heartrate, low blood pressure, panic attacks, insomnia, etc. etc. We have dysautonomia/mitral valve prolapse syndrome. I know mitral valve prolapse is usually very benign in a LOT of people, but it can be similar to a "marker" for people with dysautonomia.

 

Here's a link to common symptoms:

 

http://www.mitralvalveprolapse.com/symptoms.html

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I just called her and she said she would check on the chronic fatigue syndrome, chronic Epstein-Barr virus, and chronic Lyme disease. I didn't mention lupus because if she hasn't heard about it, that will freak her out.

 

She just told me that her neurologist told her that he thinks the mono virus stripped nerves in her brain. He has put her on medication that is supposed to regenerate the myelin. She thinks the medication is suppressing her breathing even more.

 

The neurologist also thinks the mono virus attacked her spinal cord. She said her bones hurt.

 

She tested negative for prion diseases (she said, for example, mad cow disease).

 

I suggested she see an infectious disease specialist connected with a large teaching hospital.

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Sometimes in adults there is an underlying (asymptomatic) metabolic condition. Something like illness either triggers the condition so it is adult onset or tips the balance to disease expression. That happened to me as adult. I never would have known what happened to me as the doctors were stumped except my son's geneticist mentioned that I likely had his condition.

 

Her symptoms are consistent with it though they are consistent with other things as well.

 

Here is a CDC article on chronic EBV being possibly caused by underlying mitochondrial issues. That was the case with me (different trigger). It's my son's issue as well. It's why we treat my healthy son as if he has it too as he likely inherited the condition and I hope we can prevent this sort of thing.

 

Ok--article:

http://www.cdc.gov/cfs/publications/pathophysiology/epstein_barr_virus.html

 

They were testing to try to see if those who developed Chronic Epstein Barr had genetic differences from those who had acute illness and recovered. The CFS they mention in the quote are those Chronic patients who have Chronic Fatigue Syndrome symptoms post infection.

 

In this study gene expression profiles at the time of acute illness differed between those who recovered and those who developed CFS. Several genes known to be regulated by EBV differed. More importantly several differentially expressed genes affect mitochondrial functions including fatty acid metabolism and the cell cycle.

If it's that there is likely some help. It's not curable but I improved, my son improved, etc.

 

I could suggest a few labs to test if she has a doctor who would be willing to run labs she asks him to run. Otherwise, I can suggest some things "as if" essentially. It would be nice to have tests though so she knows if it's likely that condition. I can get your more information as well if you would like.

(I agree on the dysautonomia and that can be one of the effects of mitochondrial stuff--fatigue is hallmark as are muscle issues.) My nerves/nervous system was involved (I just saw your update). In fact that was one of my primary symptoms along with fatigue, pain, muscles.

Edited by sbgrace
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A few other thoughts after re-reading your post. When my daughter was diagnosed with dysautonomia, the dr. described her as "wired and tired". She was always so tired but could not go to sleep at night.....for weeks. It is a vicious cycle.

 

Also, the chest tightening and not being able to breathe honestly sounds like a panic attack...especially if everything checks out ok. I have had many episodes. Another symptom with dysautonomia. Muscle weakness is also common.

 

I will add that is sometimes very difficult to find a dr. familiar with dysautonomia. We have people drive from very far away to visit our dr. It is very comforting to know that there are other people out there who have these symptoms. The link I posted earlier has lots of other information that would help her not feel crazy or so alone. People have suffered with this for years without being diagnosed. Sometimes, it is a sickness, trauma, etc. that triggers the symptoms.

 

Let me know if you need more information.

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but chronic EBV (Epstein-Barr virus, which causes mono in the first place) fits the symptoms. I do realize it is hard to diagnose.

 

 

I have Chronic EBV. PM me if you'd like more information. I can tell you that an infectious disease doctor will likely need to diagnose her though...maybe will help narrow down the specialist lists.

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How does a person go about finding a "lyme literate doctor"?

 

You need to find someone in NY, Connecticut,or Rhode Island. It wasn't easy! The typical course of treatment is 28 days of Doxycycline. I insisted on the 28 days and then 28 days later 10 days of Zithromax. My son is still suffering the after effects of undiagnosed lyme. We are not sure how long he had it, but found an old infection when he was reinfected probably about 1 1/2 years prior. The 2nd infection had a typical lyme rash. The earlier infection did not.

 

Faithe

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Chronic Fatigue Syndrome. This is very similar to what happened to mean, got mono (EB virus titres were off the chart) and it turned into Chronic Fatigue Sydrome with many of the same symptoms. The interesting thing is that now many researchers think that CFS and Lyme's Disease are related in some way. Treating the symptoms is helpful and some nutritional supplements for sleep and to restore the immune system may help. AHCC for immune function and Corvalen (D-Ribose) for energy may help.

 

The doctor I have been seeing for the last 15 years had developed a special interest in CFS. About 5 years ago, he discovered many of his CFS patients actually had lyme and responded to antibiotic treatment. Now, he has shifted his focus to treating lyme patients and advocating for them.

 

Lisa

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I can tell you that an infectious disease doctor will likely need to diagnose her though...maybe will help narrow down the specialist lists.

 

Thank you. I have urged her repeatedly during the last 15 months to see an infectious disease specialist, including 3 times tonight. So far, I think she's seen every type of specialist except that one.

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It could be a lot of weird things. Also you can't rule out stress. Especially if the tests are turning up negative. (although, like I said, that still doesn't rule out a weird rare thing that they haven't thought to test for yet)

 

Does she have undue stress in her life? Big changes, even happy ones?

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Does she have undue stress in her life? Big changes, even happy ones?

 

Her father died a year before she contracted mono. Four months before that, right before her husband returned from his second tour in Iraq, he called to tell her he was divorcing her. During that pre-mono year plus, she went out nearly every night with her friends, and she worked during the day. Then she contracted mono and everything came to a screeching halt.

 

Except for the 9 mos her husband wasn't in Iraq, she has always lived at home (and for the past month with relatives).

 

She has a strange relationship with her mother and grandmother. If she leaves the house, she calls her grandmother to tell her where she is going, having already told her mother. She calls both women every time she changes locations (or they call her), and she calls her grandmother again when she gets home. When she worked, she called her mother when she got there, during her lunch break, and when she left for the day, plus returned her grandmother's calls.

 

That threesome is quite strange ... they worry every little thing to death. Every day is the same. Every response is predictable. Every discussion is tedious, lengthy, and repeated day after day. Doom is always on the horizon. Change is a 4-letter word - any change, no matter how minor, I kid you not.

 

There is some kind of secret code. If an innocuous question is asked, there is an expected answer. If it is not given, a discussion will ensue (which can take hours), until the person who does not know the code accidentally hits upon the right answer or is clued-in and knows to give in immediately to the wishes of one of the three. These discussions are usually about what to eat for lunch or dinner and when to go to the mall and how long to stay there. Unless the dog cocks his leg at a 51* angle instead of a 45* angle. That is discussed ad nauseam too.

 

Anyway, she left to stay with relatives in another state, hoping that the continuous threesome stress would go away. I'm surprised she finally did that. The only other time she escaped was when (and why) she got married. She is an only child. She has the emotional maturity of a 16 year old, which is very odd to see in a woman who is nearly 30. This charitable assessment was from my DD -- I put her emotional maturity at 12-14.

 

In 54 years of life and meeting people, she is the most self-centered person I have ever met. I have only seen her around her family, though, not around her friends. She has a lot of friends - a super-abundance of them. Her mother hopes this is from a mental disease -- probably (knowing her mother) because she figures a mental illness won't kill her, but a physical one could.

Edited by RoughCollie
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MS? A friend's daughter who has MS had a monstrous case of mono before MS.

 

The symptoms sound most like Chronic Fatigue Immuno-Deficiency Syndrome (CFIDS). A friend of mine years ago had it and wrote a book called Finding Strength in Weakness (Lynn Vanderzalm).

 

I was just going to suggest this too. They are somehow related. My sil's neice went to a volleyball tournament a few yrs ago, and got sick. They thought she had the flu. She had had mono. She was in the hospital w/in hours. Turned out she has MS. She went from being healthy/athletic to incapicitated very quickly. Took a long time to get a proper diagnosis, and they almost killed her in the mean time. She has come a long way, but it took yrs.

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I hate to say this (I *never* say this): she needs to talk to a psychiatrist.

 

A person who is convinced they are dying (per one of your posts) who says they can't breathe (when tests show they are breathing just fine) has something going on in addition to any physical ailment that has not been pinpointed.

 

I feel for her, I really do. I dealt with having an illness undiagnosed and misdiagnosed for 20 years.

 

And that thing with her family/living situation is just weird.

 

 

a

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I hate to say this (I *never* say this): she needs to talk to a psychiatrist.

 

A person who is convinced they are dying (per one of your posts) who says they can't breathe (when tests show they are breathing just fine) has something going on in addition to any physical ailment that has not been pinpointed.

 

 

I agree. I am told I have huge amounts of stress in my life (2 kids with rare stuff going on) and I have all kinds of weird symptoms. When they are looked into and cleared on the physical level, they go away. Breathing/chest pains was one of those symptoms.

 

I also don't doubt something physical is going on. I wonder if seeing some sort of doctor who takes a natural approach would help her? They often look at the whole person, not just the symptoms.

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I agree. I am told I have huge amounts of stress in my life (2 kids with rare stuff going on) and I have all kinds of weird symptoms. When they are looked into and cleared on the physical level, they go away. Breathing/chest pains was one of those symptoms.

 

I also don't doubt something physical is going on. I wonder if seeing some sort of doctor who takes a natural approach would help her? They often look at the whole person, not just the symptoms.

 

D.O.s (Doctor's of Osteopathy) are good for this.

 

What Is Osteopathic Medicine?

 

 

a

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I hate to say this (I *never* say this): she needs to talk to a psychiatrist.

 

She has. She was hospitalized twice earlier this year. She was seeing her mother's therapist every other week, too.

 

This situation is all she talks about, and she is a talker. Put it this way: If she is present, her situation is all that is discussed, and she is very dramatic about it. She is highly anxious and cries because she cannot engage in the considerable social life she once had. The world revolves around her more than ever. Sometimes I think it stems from a mental problem. She has never been a fully functioning independent adult and seems to be pathologically bound to her mother and grandmother. I wonder if when her father died and she got divorced, she partied hard for a year and then became terrified because there was not a man around to take care of her monetarily.

 

Not that her mother and grandmother don't take care of her. The medical bills plus her health insurance are enormous and never ending expenses for her mother. She lives at home with her mother, and for the past month with a close maternal relative's family. These people are supporting her financially. Maybe she's terrified they will die too and she will be left alone with no one who will put up with her, and no means of support.

 

Most of all, I can't figure out why she will not see an infectious disease specialist. I have been recommending that course of action since this began.

Edited by RoughCollie
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On what basis? My understanding is that MS is unbelievably difficult to diagnose. It can take quite a while to nail this diagnosis.

 

I asked. She didn't know. She doesn't know a lot of things. For example, she told me her red blood cell count is high. I asked if it was unusually high and she didn't know. I said that perhaps that meant she didn't have anemia. She said, in a very cautious tone of voice, "The doctors haven't told me that."

 

She either doesn't know a lot of answers to my questions, or she doesn't want me to know the answers. It's very strange because these are questions one would naturally ask. She is also not the type to keep any information private, so I don't think she is hiding anything from me unless there is a very good reason, like she benefits from being sick and doesn't want anyone to know that. She likes to be the center of everyone's world -- and while I do not think she is doing this on purpose, I do wonder if it is psychological.

Edited by RoughCollie
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I asked. She didn't know.

 

She either doesn't know a lot of answers to my questions, or she doesn't want me to know the answers. It's very strange because these are questions one would naturally ask. She is also not the type to keep any information private, so I don't think she is hiding anything from me unless there is a very good reason, like she benefits from being sick and doesn't want anyone to know that. She likes to be the center of everyone's world -- and while I do not think she is doing this on purpose, I do wonder if it is psychological.

 

For example, her red blood cell count is high, according to her. I asked if it was unusually high and she didn't know.

 

Sadly, that is probably the ultimate answer here.

 

 

a

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I asked. She didn't know. She doesn't know a lot of things. For example, she told me her red blood cell count is high. I asked if it was unusually high and she didn't know. I said that perhaps that meant she didn't have anemia. She said, in a very cautious tone of voice, "The doctors haven't told me that."

 

She either doesn't know a lot of answers to my questions, or she doesn't want me to know the answers. It's very strange because these are questions one would naturally ask. She is also not the type to keep any information private, so I don't think she is hiding anything from me unless there is a very good reason, like she benefits from being sick and doesn't want anyone to know that. She likes to be the center of everyone's world -- and while I do not think she is doing this on purpose, I do wonder if it is psychological.

 

Look into this: http://my.clevelandclinic.org/disorders/factitious_disorders/hic_munchausen_syndrome.aspx

 

There could be some of this involved.

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I had mono and developed MS afterwards but it took YEARS to realize and get a diagnosis. Many attacks later and disability resulted. Have her read about MS hug for her symptoms in her chest and go to a neurologist. I have POTS as one of my symptoms - postural tachycardia due to one of the lesions near my brain stem. If she had a normal MRI she may need to repeat in 6months bc the lesions may not show up for a while if the disease is beginning. HTH!

 

 

 

 

 

I know someone who had mono 18 months ago. She has never recovered. She has been to every specialist known to mankind, including psychiatrists, and no one can find anything wrong with her.

 

She "feels" she is having muscle loss, cartilage loss, and is dehydrated.

 

She has tachycardia (rapid heart rate), severe insomnia (sleep lab last night; she slept 3 hours); muscle contractions all over especially in her chest; cannot get a deep breath.

 

The pulmonologist gave her a lung function test, said it showed "some restriction" and said he did not believe she was having the symptoms she claims. She did not ask him why he didn't believe her. In any case, her lung problems have gotten worse since then.

 

She is always tired and cannot sleep. She cannot work. She is too tired, doesn't do her job well, and gets fired. She does not have anemia. The extensive blood work done on her many times over the last 18 mos has shown nothing wrong.

 

She thinks she is going to die from this, whatever it is. New round of specialists coming up. She moved to another state, in with family, and is now trying their specialists.

 

Her personality has completely changed. She used to be a peppy, extroverted, cheerleader type (was actually a cheerleader), very athletic and have many interests (mostly socially related). Now she is tired all the time, does nothing but talk about being tired and how she is going to die soon.

 

She has had MRIs, CAT Scans, every blood test known to mankind, X-rays, EEGs, you name it.

 

So can anyone think what this can be?

 

Also, she does not come here. She doesn't know this board exists or enough about me to find anything remotely connected to me on the internet.

 

Thank you for your help,

RC

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