Discussions By Condition: I cannot get a diagnosis.

Any ideas?

Posted In: I cannot get a diagnosis. 16 Replies
  • Posted By: ruth40
  • April 15, 2008
  • 04:30 PM

Hi I have had a range of symptoms for 10 years and can not get a diagnosis. I am a 41 year old woman.

I have periods of time - usually a few months in Winter/Spring when I get ill. My symptoms include - tiredness, aching muscles, blurred vision, some difficulty concentrating/thinking, muscles getting tired quickly e.g. leg muscles aching after walking for 5-10 minutes or having difficulties turning on taps. Also feeling really depressed for no reason at all, feeling ill, having a sore throat, slight swelling to my cheeks, and often part of my face will go really red and warm for small periods of time e.g. right cheek will go bright red.

I also have intermittent bladder incontinence and very occasionally slight bowel incontinence. I also have nerve symptoms such as burning pain in the right hand side of my face, legs and arms and some abdominal pain, small electric shocks on my skin, patches of altered sensation on my skin.

In between these months I feel really well, although I still have burning pain on the right hand side of my body and somer altered sensation with my skin.

Not sure if it is relevant but I also have an underactive thyroid, and bronchiecstasis a rare type of lung damage. I have very dry skin and get some periods where my hair thins.

My brother also has some problems although my dad is insistent that these are caused by depression. He gets very tired quickly, has a dry cough that he has had for years and generally feels ill. I have no idea if this is related to my issues at all. I have very little contact with my brother, so I don't think we could have 'caught' something from each other.

I have had an MRI, lumbar puncture and lots of blood tests including for lupus. Every single test has always been normal. I would love to have a diagnosis so if anyone has any idaes that would be great.

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16 Replies:

  • You said: "Not sure if it is relevant but I also have an underactive thyroid, and bronchiecstasis a rare type of lung damage. I have very dry skin and get some periods where my hair thins." YES, YES, YES!!"!!! You are very likely UNDERTREATED for your thyroid problem! It can and does cause all kinds of horrible and chronic symptoms if left undertreated. Unfortunatly many, many doctors are not very educated about this very common problem and let a patient suffer with a TSH of 3 or 5 or higher and they do not even test for Hashimotos or Graves Disease (autoimmune disease of the thryoid) or even do a simple ultrasound and on and on.... a TSH over 2.5-30 probably needs treatment and the FT4 in middle of lab ranges and FT3 in upper 1/3....do you have your thryoid results? Can you post them here? Also please, please check out Mary Shomon's site on thyroid and ask the ladies there and look at the info. She is a patient advocate and I used her site a lot when I was really suffering with thyroid problems....THis may not account for ALL that is going on, but I bet the farm some of it certainly does.... PS: I think I replied to you before about this possible thryoid problem....why don't you pursue it further?! Good luck. Joan
    Joan5555 316 Replies Flag this Response
  • I have spoken to my GP about this and he just says that every few years my thyroid levels are tested and they are always fine. I'm afraid I don't have any thyroid results. I will visit him and be more assertive. Thanks
    ruth40 55 Replies Flag this Response
  • I have had a look at Mary Shomon's site on thyroid and I am going to go to back to my GP about my thyroid. Certainly some of my symptoms could be to do with that. However there are some symptoms that are not to do with that e.g. bowel and bladder continence problems and I would still welcome any ideas of what could be causing these symptoms.
    ruth40 55 Replies Flag this Response
  • You are having problems which are seasonal and I have a feeling that is the important. Seasonal affective disorder runs in my family. Winter/Spring sounds very familiar to me. It generally causes depression, which can in turn cause some of your other symptoms. My sister gets sore throats associated with the Seasonal Affective disorder as far as I can tell. She also get headaches in Winter/Spring. Suggest you read up on it. It sounds like something psychosomatic but it is very real. There are special lights which mimic natural sunlight. Those apparently help a lot of people. Other things to consider which are seasonal. Allergies can cause some of your problems, such as the difficulty concentrating, sore throat and the redness. There are also number of diseases which primarily display themselves in cold weather. Ask your doctor. Some of your symptoms could be nerve problems/neuropathy or cardiovascular insufficiency. I can't tell from your post if you have any risk factors, but you might want to go to a cardiovascular specialist (not a cardiologist) and get your legs checked with ultrasound. Venous insufficiency can be worse in cold weather. The first thing my cardiovascular specialist asked me was how long I can walk before my legs hurt (mine don't).
    BesideMyself 41 Replies Flag this Response
  • Just an idea but, depending on where you're from, lack of sun (winter/spring) can lead to a lack of vitamin D. Lack of vitamin D and other factors (like drinking a lot of cola for example) can lead to lack of calcium or calcium malabsorption. Calcium plays a very important role not only in bones but also in production of energy. I don't think the lack of calcium would show in blood tests, well I wouldn't be 100% sure. I'm not one to praise medication or vitamin supplements in general, but I do take the chewable vitamin D / calcium supplements maybe once a day to prevent bone loss and it seems to have helped with my fatigue as well. If you live somewhere where you have to cover yourself during winter because of the cold, work in an office and / or have a schedule in which you go outside only when it's dark, you may need to find something to replace your lack of exposure to the sun. Hope you feel better! * I gotta add, Magnesium is very important as well. Also, I heard about light therapy for SAD but never tried it personally.
    geenie 39 Replies Flag this Response
  • part of it might be shingles...but not all of it..
    Monsterlove 2921 Replies Flag this Response
  • There's also a rare complication of autoimmune thyroiditis called Hashimoto's Encephalopathy, which could potentially explain some of your symptoms. If you have Hashimoto's thyroiditis (the most common cause of underactive thyroid), then you are at risk for a whole laundry list of other autoimmune diseases, wich could also serve as an explanation. It might be worthwhile asking your doctors about these possibilities. Most doctors have not heard of HE, however.Best Wishes.
    Anonymous 42789 Replies Flag this Response
  • Thanks for the suggestions. I really don't think it is SAD. It is cold that seems to make it worse, not lack of sunlight. In fact I have felt worse at times when there have been very sunny days e.g. in March here in the UK we had a few weeks where it was very warm and sunny but I was feeling ill. I feel quite depressed at times - but only for a short period of time e.g. a few weeks, in between I can feel great and it doesn't seem to be related to what is happening in my life. I shoukd explain with my legs that they only ache after 5-10 minutes walking when I am most ill. When I am generally well I go walking for hours with no problem and play sports. so I don't think it is a cardio vascular issue as it would be more consistent. Although I do have a slight harmless heart murmer.
    ruth40 55 Replies Flag this Response
  • If it happens only during a few months and always at the same time of the year, then I'd try to figure out what is so different during that particular period of time that doesn't happen during the rest of the year. Simple things like, what can you say about your environment that's different when you start feeling ill? For example, could it be the heating system? (You'd have to have lived in the same house since your symptoms first appeared though). Are you starting to feel ill during times when the temperature is very humid or when the snow is melting? (I'm sorry I'm not very familiar with the climat in UK but here, when the snow starts to melt, you can be exposed to some nasty infectious agents). Or are you sicker when it's real cold and dry? Any allergies? Travel? Any small infections in the weeks previous to your getting ill? You mentioned you had bronchiectasis but didn't specify the cause. Was it congenital or acquired? Does your brother suffer from bronchiectasis as well? What about thyroid? Also, have you (or your brother) ever been tested for oxygen saturation levels? Might sound like a weird idea but I did notice that in different climates, my O2 sat wouldn't be too great (I had sleep apnea however, but was amazed at the differences I'd see while being in different climates). Of course, I owned the testing device (I'm a geek), I don't know how available this would be to you. Any history of sleep apnea in the family?
    geenie 39 Replies Flag this Response
  • Sorry I think I misled you slightly when I talked about it happening certain times of the year. It does happen other times of the year, but seems more oikely to start when it is cold. I have moved house including area and job whilst I have been ill so I don't think it has an environmental cause. And in Britain I have heating on most of the year. We rarely have snow and it is not humid. I get slight hayfever at times but no other allergies. I often get other things when I start to become ill again like cold sores, fungal infections, cuts at the side of my mouth. I have always thought this is because I am run down. My bronchiecstasis is acquired although no-one knows how I got it. I was originally misdiagnosed as having asthma and treated for this for several years before it was diagnosed. My brother doesn't have this. His peak flow is fine, but he has a dry cough and gets breathless. I have never been checked for oxygen saturation levels - not something that has ever occured to me. I do find when I visit countries with high altitude that I get breathless very quickly. My father has sleet apnea, but my partner says that I don't stop breathing in the night like my dad does.
    ruth40 55 Replies Flag this Response
  • Sorry forgot to say I am overweight, but when I am ill my appetite goes down and I often lose a bit of weight.
    ruth40 55 Replies Flag this Response
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  • Hm. Puzzling. Have you been tested for Lupus?
    geenie 39 Replies Flag this Response
  • Hm. Puzzling. Have you been tested for Lupus? Whups, yes you have, I thought I saw that in your original post, sorry (so I'm reediting this). There are a few conditions that can specifically cause cuts at the side of someone's mouth (and other symptoms you may have described as well), but my memory is failing me right now. Did your doctor eliminate any kind of vitamin / mineral deficiency from malabsorption maybe? From the looks of it, it seems you're becoming immunocompromised in those periods. Have you checked with a virologist / bacteriologist to see if you had any kind of chronic infection?
    geenie 39 Replies Flag this Response
  • I have had lots of blood tests that have checked lots of things including B12 malabsorption. Everything has been normal. Incidentally I first started getting symptoms when I was working full time and studying part time. I was tired and run down. I had been told that the cuts at the side of my mouth were 1. due to being run down 2. second time due to cold weather 3. third time due to a fungal infection. By the way I eat well, lots of fruit and vegetables although too much chocolate. I play badminton twice a week and work full time.
    ruth40 55 Replies Flag this Response
  • Forgot to say that I have also lost the ability to close my eye and have my eyelid open i.e. what your eyelid would like like if you were closing it to put eye shadow on. My upper eye lid on my right eye is also droopy and in all my photos it is noticeable that my right eye always looks smaller than my left one because of this.
    ruth40 55 Replies Flag this Response
  • Ruth, everything you say for symptoms point to thryoid, thryoid, thryoid. Get the lab results from your doctor. In the USA at least (perhaps where you are too) You are entitled to them by LAW. Try to see a specialist, endocrinologist and get a thorough workup. Keep in mind that in the USA the Amercian Association of Clinical Endocrinologist (the thryoid and diabetes specialists) recommend a TSH between 0.3 and 2.5 and out of that range recommended for treatment..... A thryoid even slightly out of whack can really effect some people (like me!). You need to seriously pursue this further in my opinion. I have had all your symptoms...including the eye, and it was THYROID....if it is indeed your thyroid the longer you go without treatment the longer it will take in the end to recover and get well. The thyroid effects every CELL in you body....look at my previous post on this thread. If by some chance it turns out not to be thryoid my best next guess is that you are dealing with some other autoimmune disease or possible ovarian/pituitary issues. Joan
    Joan5555 316 Replies Flag this Response
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