Please help

[Lena85]

Hi do any of you with a genetic disorder sound like me? For the past 6months I've had:

 severe consistent nausea - especially with bowel movements
* severe heart palpitations & flutter
* stabbing pain on left side and sore rib cage ( I can't sleep on it)
* chest pain
* neck pain
*sore throat 
*dizziness
* constant urge to poo but will only do small amounts sometimes 5 times a day (narrow stools) other days I will do 5 normal amounts but with semi soft stools
* fatigue
* mood swings
* bouts of insomnia that come and go
* entire body aches 
* always feeling hot
* fevers between 37.5 and 38 that come and go for 2 or 4 days and then go away. 
* chills
* sore lymph glands
* sore breasts 
* sensation of chest on fire with nausea
* headaches 
* 12 kilo weight loss
* breathlessness with exertion
* stomach cramps
* slight drooping of right lip and numbness (sometimes)

I would say I've been tired since the age of 13, thank you for reading. Lena

[kwarendorf]

Hi Lena

Sounds like you're having a rough time. What do your doctors say?

Kyle

[Lena85]

Every doc at some stage hands me antidepressants - the last time I checked depression doesn't give you fevers and nausea

. I'm extremely stressed and sometimes I get really down but I dont have depression thank god. So basically no one has the slightest clue what's wrong with me, after 5 months begging I finally convinced a doc to take a swab of my throat (even though apparently there's no signs of infection just inflammation) to see if there's any bacteria that could be causing it,

As for the nausea, which is my worst symptom - again no one has any idea why.

If you read one of my other posts you'll see if had several issues since a young age which is why I now think maybe I have MS or some genetic disorder cause I've never really been 100% well.
Thank you, Lena

[jensequitur]

Well, it ain't MS!  Sorry to say, but these symptoms sound more like an endocrine or perhaps a thyroid imbalance.  I'm also concerned about the nausea.  Quite often heart problems will manifest as nausea.  My husband had nausea right before his heart attack.

[Lena85]

Hi jensequitur

I had a heart ultrasound this week because my ECG showed extra beats and the ultrasound was normal except for " trivial mitral valve reguirgitation' which apparently is nothing of concern. My doc reccommended I don't need to see a heart specialist anymore, I didn't cancel it but post poned it for 3 weeks because I'd like to see another endocrinologist in the mean time for a 2nd opinion as the one I saw wasn't very helpful.

I wonder what was your husbands heart condition and if he felt nausea all the time? My nausea is most of the day. I hope your husband is okay now.

Thank you, Lena

[Lena85]

Hi everyone, just an update. My blood test showed Anti nuclear antibodies 'detected' and it says screened at a Titre of 80 'speckled'. In my previous blood test 2 months previously there weren't any detected. I'm not sure what this means. My doc didn't mention it to me at all

My tsh is now 0.42 which is just within normal limits and yet, I've lost 3 kilos this week. I've had my heart ultrasound back with 'trivial mitral valve reguirgitation' and an ultrasound of my salivary glands showed some small lymph nodes and intraparotid nodes.

Any thoughts would be great, thank you!

[Lena85]

Hi everyone, just an update. My blood test showed Anti nuclear antibodies 'detected' and it says screened at a Titre of 80 'speckled'. In my previous blood test 2 months previously there weren't any detected. I'm not sure what this means. My doc didn't mention it to me at all

My tsh is now 0.42 which is just within normal limits and yet, I've lost 3 kilos this week. I've had my heart ultrasound back with 'trivial mitral valve reguirgitation' and an ultrasound of my salivary glands showed some small lymph nodes and intraparotid nodes.

Any thoughts would be great, thank you!

[teenyturner]

Unfortunately you can't trust the ANA test unless it's grossly high.  A mild positive is considered a variation of normal.

Your symptoms (except the face) sounds like hyperthyroidism but I see your TSH is within normal range. Have they done a thyroid scan to see if you have any hormone producing nodules? Perhaps you could suggest this test to your doctor.

Sorry I have no other suggestions.

Good luck.

Chirley

[Lena85]

Hi chirley, yes weve done an ultrasound of my neck, nothing was found in my thyroid, only very slightly inflamed.

Thank you anyhow:)

[Lena85]

Just an update for everyone. So apparently I have all the celiac genes (but not celiac) and I just discovered a tiny pea size lump on my sternoclavicular joint near my neck, my doc wasn't concerned but I'm booked in for an ultrasound anyway. Hopefully this might show why I've had a sore throat for more than 6momths although my doctor doesn't think so. I'm Getting a 2nd opinion this weekend.

[Lena85]

Just an update for everyone, I'm doing a 3d ultrasound tomorrow after visiting a gynaecologist he suspects bowel endometriosis. He wants to do a laparoscopy, but I'm not keen on being opened up if he isn't 100% sure. Will a 3d ultrasound show bowel endometriosis? Of the any people they diagnose after laparoscopy, I'd like to know how many end up NOT having the disease? Does anyone have any knowledge about this please? Thank you!

[panda2526]

Hi, yes, my husband has a genetic disorder that causes him to store iron and all the symptoms you mention above he has had and has now. It started 10 years ago and he has finally been diagnosed. You asked about a genetic disorder and yes, it is called hereditary hemochromatosis. You can look up more info for yourself, but I thought I'd give you another suggestion as the other fine folks here have as well. And I recently got my blood tests for this and I too am loading iron, just found out on Friday, and have many, many of those same symptoms.

Docs tests for hemoglobin and other routine tests so they may tell yopu they have already checked your iron, but these ones screen for iron overload. ferritin, transferrin saturation, TIBC, serum iron.

Take care.

[Lena85]

Hi panda, my red blood cell count was very slightly over the maximum, I brought it to the attention to my doctor and she said its nothing, I   Had my hemoglobin, haematocrit, mcv, mcg, mchc tested and they're all normal if not slightly lower end. Could I still have iron overload? Thanks very much

[Lena85]

Oh I just realised my ferritin was tested and all the others you mentioned except TIBC...

[panda2526]

Do you know what those numbers are? Most important is the Transferrin saturation and serum iron along with ferritin.

Yes, those CBC tests they are called can be used for indications of finding anemia, say if your hemoglobin and hematocrit are low...my husband's HgB and Hct are really high, and his RBC's. It's not always like that, each person is different and have different CBC's for various reasons. A person can be anemic and iron load at same time...if the doc is only using those CBC tests it is not a accurate picture of true iron storage, as found in ferritin, transferrin saturation, TIBC or UIBC, and serum iron. If any of these are elevated above range it needs further investigation, from everything I have researched. For eg. even if ferritin is within "normal" range, experts on iron overload diseases recommend a safe level of between 30 and 50 for women premenopausal, no more than 50 for post menopausal, 60 for men and anything over 80 is in danger zone. I also found recently a study done on homozygous HHC patients (carry double C282Y mutation) and it was found that 50% of women and 20% of men did NOT have elevated ferritin, meaning they fell within the normal range, but their other levels were elevated above normal.

Keep in mind that reference ranges are established to predict the outcomes for 95% of the population, and that "normal" range and "optimal" range can vary substantially. What is important is to research and not be deterred by docs who are unwilling to consider any other possibilities in conjunction with your entire health picture, or who are not willing to investigate further.

Hope that helps...I am finding out much as my levels of iron were tested and last week found out I am iron loading and 3 out of 4 tests are elevated but the doc will not look at anything other than ferritin, mine is 91, ref range 20-150, I am 42 yr female. I have all symptoms you yourself mentioned but he ignores my concerns, so I had to inform him I would be finding a new doc. I just got this one!!! On to another new one tomorrow, First blood tests and physical exam I have had in years as I got fed up with the docs not figuring me out...or telling me I'm fine. I refused all the pain killers, anti-depressants that they tried to prescribe, and just quietly suffer. And family and friends don't understand, so it has been quite lonely. In so many of these groups and forums I have searched for answers and am like a sponge for info, and I comment and post to others regarding their symptoms that they are desperate to find answers and I have posted to many people in the last week or so to help bring awareness of this problem, and the forum sent me an email telling me that I am "Spamming" and that's not allowed, because I keep talking to people about iron disorders!!

So if I get booted off here for offering suggestions and places people can look for answers when I can see their desperation, and know how they feel after over 10 years with my husband not finding answers, how can I NOT help them? At least they can take it and find out for themselves.

Thanks for "listening" again...take care.

[Lena85]

Thank you very much. I respect and appreciate what you're trying to do here. I feel very lonely in all of this, no one truly cares about what I'm going through anymore because they've had enough of me after months of illness. Every doc I see gives up after a while, and its stressful trying to find a new one after new one only to be looked at like you're crazy.

Which test should I ask my doc to do? Forgive me I'm a little confused, mind fog ATM.

[panda2526]

Another point I saw you mention in your personal story on another forum is that you taste metal taste in your mouth...I just did a bunch of reading on heavy metal toxicity, and wow, everything else points to you having an over load of some toxic metals. Look up heavy metal toxicity...we consume, ingest and are exposed to various toxins in our diets and life, and if our bodies cannot get rid of them they become free radicals in our bodies. Some examples of toxic metals are iron and copper, lead, mercury...among others. This is a serious issue in people who are unable to get rid fo excess metals like iron, and they are built up in tissues, organs, and joints.

You'll want to add to your list of tests, by the sounds of it you've become a guinea pig, testing for heavy metals like iron overload. These tests are not on the routine testing, and are sometimes overlooked.

[Cat_88]

Oh wow I read this and I can relate to soooo much of it. Basically from about 7 I had telescopes shoved up every oriface while they tried to figure out issues with my bowels, then when I got to 15 they gave up and called it ibs... Yeah great, just means they don't know. So anyway as an adult I started having the pains in my chest, the fire, the insomnia and I went to my go (who is, in my opinion, the best in the world) he got on the allergy testing and the ultrasounds and this is the verdict... I am allergic to a certain wheat protein. Not cealiacs but close enough. Found in certain wheat products, full cream dairy products. I have a slight fructose intolerance, also... This was great as it fixed a third of my problem... Any who,long story short- my gall bladder was full of stones, a complete mess. It explained EVERYTHING and since I had it removed my symptoms have all vanished!!!! Get your gall bladder checked!!!!

[Lena85]

Hi cat - I'm having a blood test for food allergies soon. I had ultrasounds - and nothing showed up with the gall bladder. I can't stop loosing weight more recently, even though at this point I'm stuffing myself with high calorie foods. I've been tested for celiac as well. Did you loose weight??

Thank u for your input