[Myou]

Allow me to first introduce myself! My name is Maren, and I've been a regular lurker on this wonderful website for about three years. The personal stories written here have been a continual inspiration on this medical journey of mine, and on many occasions, has helped me to continue trying to figure out my problem.

I've finally decided to crawl out of the shadows due to pure frustration, and a need for the community's wisdom. I've come to a dead end, and it's gotten to the point where my doctors seem to simply have no idea what to do with me.

This may be somewhat of a longer post, given that my battle with this unknown illness has been a long-time coming, so I apologize if that may be the case. =D

I am a 22 year old female, who, over 8 years, has struggled with mystery symptoms that seem to evolve almost daily now. And it all began with an incredible exhaustion that caused me to exit high-school early on my senior year, simply because I hadn't the strength to continue. The evolving pain also forced me to abandon my cello (the love of my life), which I had studied for 9 years prior, due to terrible progressive hand pain. It still sits in my closet, left relatively untouched now for four years.

As time progressed, so did the symptoms, which were generally "vague" at first: Muscle pain, joint pain, exhaustion, and weakness. Doctors seemed uninterested, and rarely performed any tests.

It wasn't until about three years ago when the symptoms became more interesting. I developed a light rash across my face when exposed to sunlight, the joint-pain intensified, and I began to experience low grade fevers.

Today, I have a strange list of symptoms, each one seemingly unrelated to the other. This generally baffles every doctor I've visited (and I've seen quite a few now). Some of these symptoms are incredibly frustrating in nature, if only because they seem so out of place to everything else. I am a born researcher, and the only illness that ever seems to share the strange list of symptoms that crop up is Lupus.

If I may, I would share that list with you now, as it currently stands:

-weakness
-join pain, without swelling
-muscle pain
-low grade fevers
-glandular swelling
-raynauds phenomenon
-sensitivity to sunlight
-light molar rash
-weight loss
-chronically swollen eyelids
-petechiae rash (which started off mild, and now covers my arms. It seems to be spreading to my legs now as well)
-diarrhea
-painful mouth and nose ulcers
-strange, red bumps that itch at first, and later become a dark, dark red color (these seem to be happening with more frequency lately)

My test results are generally rather varied. I've had four ANA tests done in the past three years, two of which were positive, the other two, negative. My white blood cell count is currently on the very low end of normal, and I never seem to obtain a Sed Rate test above "1".

The only significant blood result I've received was one which indicated that I had absolutely zero vitamin D in my system. I have been under treatment for that for the past year or so, and have seen little improvement in my symptoms over all, sadly (In fact, since then, I've developed the petechiae and red bumps). I had so hoped that a vitamin D deficiency would be the answer to all of my problems. Neither my regular doctor or my Rhuemetologist know what could possibly be keeping my body from properly storing vitamin D.

As a precaution, I am now regularly taking multi-vitamins, particularly B vitamins, to rule out any other possible deficiencies that may be at play.

On another note, something which seems to keep me from any serious diagnoses is the fact that I have no joint swelling whatsoever. Even though the pain can be quite severe. I've noticed that Rhuemys tend to develop a certain level of distain towards the lack of swelling in their line of work. XD

And as winter quickly approaches, that joint pain is returning with a vengeance.

My doctors are frustrated, as I am. Yet they generally don't ask for many blood tests anymore. Where do I go from here? What do I ask? What other blood tests could be beneficial in finding my diagnosis?

Let me thank you ahead of time for any responses that I receive. You are a very kind community of people, and I thank you from the bottom of my heart, simply for having had read this. Writing itself can be quite therapeutic.

Sincerely,
Maren

 

[Katharine]

Hello Maren, I had to laugh about the lurking :rotfl:

I don't have much time but wanted to answer quickly. Those symptoms, as I'm sure you know if you have looked at the top of the "not yet diagnosed" section are indeed quite familiar for many SLE sufferers.

SLE is a complex disease but I am puzzled as to why your doctors seem to have ruled out that possibility. I am presuming that your positive ANA results weren't "high" positives and are therefore being discounted.

If I understand correctly you have a GP and a rheumy? Have you ever asked them whether getting a skin biopsy done might not be worthwhile? I am an ANA negative patient who was diagnosed by means of a skin biopsy (in my case on unaffected skin).

The other thing I would be asking myself is whether it isn't time to find out who the TOP auto-immune specialists are in your area. I don't know if you're in the US or UK so can't guide you there. Not all rheumatologists are specialists and, generally, when blood work isn't very clear, you will need an experienced diagnostician to help you.

There is a find a doctor section here which you could post in to try and get a second opinion. If your doctors are truly puzzled and want to help they shouldn't be opposed to you doing that.

Other than that, all I can say is that you need bucketloads of determination but I think you already seem to have that

Also, make sure you take photos of any rashes that you get. They have a nasty habit of disappearing on the day you're seeing the specialist.

Hang in there and keep asking questions,
hugs to you :hug:

Katharine

 

[Myou]

Hello Maren, I had to laugh about the lurking :rotfl:

I don't have much time but wanted to answer quickly. Those symptoms, as I'm sure you know if you have looked at the top of the "not yet diagnosed" section are indeed quite familiar for many SLE sufferers.

SLE is a complex disease but I am puzzled as to why your doctors seem to have ruled out that possibility. I am presuming that your positive ANA results weren't "high" positives and are therefore being discounted.

You nailed it! The positive ANA tests I did receive were not remarkably "high".

It's interesting how very intuitive this community can be with many of these things. XD I should have mentioned this before, and I thank you for bringing it up.

I have seen 4 doctors in the past 3 years, and each was rather unimpressed by the ANA results. Understandably, they saw them as rather inconclusive. =D

If I understand correctly you have a GP and a rheumy? Have you ever asked them whether getting a skin biopsy done might not be worthwhile? I am an ANA negative patient who was diagnosed by means of a skin biopsy (in my case on unaffected skin).

Yes, I have both a GP and a Rheumatologist. And you bring up a very interesting suggestion!

Now, by getting a skin biopsy, are you referring to getting a sample of the strange, red bumps that are appearing, or simply by my doctor taking a general "slice" from any area of my body? (I've never had any kind of biopsy done before, so please excuse my ignorance.)

The other thing I would be asking myself is whether it isn't time to find out who the TOP auto-immune specialists are in your area. I don't know if you're in the US or UK so can't guide you there. Not all rheumatologists are specialists and, generally, when blood work isn't very clear, you will need an experienced diagnostician to help you.

I didn't even realize auto-immune specialists even existed. I always thought only Rhematologists assumed the responsibility of all auto-immune cases.

I am in the US, Northern California, to be exact, and I live in a relatively small city without too many specialists. This place only boasts two Rheumatologists, one in which dismissed my problems as a sleeping disorder, and the other, who I currently visit, is not under my insurance plan, which results in my having to pay 100 - 400 dollars to see her. This, of course, limits how frequently I can make visitations.

I will definitely look into an auto-immune specialist, and see if there are any either in this city, or in nearby ones.

I can't tell you how thankful I am for this advice!

There is a find a doctor section here which you could post in to try and get a second opinion. If your doctors are truly puzzled and want to help they shouldn't be opposed to you doing that.

Other than that, all I can say is that you need bucketloads of determination but I think you already seem to have that

Over the past 8 years, my newest doctor is currently my tenth opinion, much less my second. :lol: But you've given me something to really think about with a specialist. I will look into that section of this site (I must have missed it somehow).

And yes, I have been blessed with stubborn-headedness. A friend of mine blames the Capricorn in me. XD It keeps me going and relatively grounded when any frustration hits, especially once a new symptoms suddenly appears. Fortunately, the frustration motivates me to continue, and websites like this one are a wonderful resource for information and inspiration.

Also, make sure you take photos of any rashes that you get. They have a nasty habit of disappearing on the day you're seeing the specialist.

Hang in there and keep asking questions,
hugs to you :hug:

Katharine

Oh, cripes, I'm so glad to hear I'm not the only person who has that mystical ability to somehow conceal all of her symptoms the moment she steps into a medical facility.

Fortunately, I understand the benefit of taking pictures, and do so when a certain symptom is active. Although most recently, when I took a picture of the odd, red spots, and showed them to my Rheumy, she assumed they were bug bites.

Gah, oh well. I'll have to try to get into my general doctor when I have a proper breakout of the little things. I remember her mentioning that she has the ability to take proper biopsys when needed.

Thank you, thank you, thank you. Your response has not only been incredibly helpful, it's also been unfathomably comforting. Even with supportive loved ones, the road to diagnoses can feel very lonely at times. It's nice to hear a voice (or should I say, "read the text") of someone with a similar experience.

:hug: I am truly appreciative.

 

[Katharine]

Grrrrrrr my reply just felw into cyber space....

Now what did I say?

Um, for the skin biopsy there seems to be no definite answer. Some members here have had biopsies of "affected" skin, others like myself have had ones of "non affected" skin. My only longer term rash was the malar rash so there was no way a doc was going to do a biopsy in the middle of my face.

More info here
http://www.uklupus.co.uk/sbiop.html

You are right that rheumies treat auto-immune diseases, however, rheumies that specialise in lupus are few and far between and most of the others can just about treat it with typical meds and will also diagnose in clear cut cases where the bloods are blatantly screaming lupus. That's why asking other members for recommendations often proves invaluable.

hope that helps,
Katharine

 

[Katharine]

Oh and another thing,

Some good doctors, even if they cannot give a firm SLE diagnosis will give a diagnosis of UCTD (Undifferentiated Connective Tissue Disease) which means that they can basicaly treat you in the same way as you would be for SLE and hopefully get relief.

An SLE diagnosis is never given lightly, not only because the disease is complex but also because it can have consequences for things like life and mortgage insurance.

Katharine

 

[lazylegs]

Hi Myou,

Northern California has 2 wonderful medical schools with Rheumatology departments. Both have doctors very knowledgeable in Lupus. The schools are also involved in Lupus research trials. Since you are at a dead end seeing one of these doctors might be an option for you.

Take care,
Lazylegs

 

[Maia]

Two additional thoughts:

(1) Go to a dermatologist with pictures of any rashes and bumps as they are the ones that would do a biopsy & may be able to assist in diagnosis.

(2) Have they tested your parathyroid yet? Are your blood calcium levels normal? Parathyroid problems would not explain all of you symptoms although could explain many. A vitamin D deficiency/absence like you have is often actually caused by a malfunctioning parathyroid gland.

Good luck to you and I hope you'll keep posting! (((hugs)))

 

[Myou]

Oh, allow me to so humbly thank each of you for replying. You've all given me options and advice when I felt trapped in a corner. :hug:

Kathrine: You've been a big help with the biopsy suggestion, and I will definitely look into that.

I just desperately want some sort of name to this illness that has kept me from properly living for so long. The only treatment I am currently under is with pain medication, and it's frustrating when even that can't help the majority of the pain. But I'm sure you know that feeling very well.

Thank you, dearly.

Lazylegs: Yes! I know of the two schools you are talking about, and have actually visited the on based in San Fransisco about three years ago. But unfortunately, at that time, I was not presenting with many outward symptoms...just the basic malaise, exhaustion, joint pain without swelling, and muscle pain. He sent me home after having had driven two and a half hours to see him, and informed my general practitioner that I was probably just depressed. My GP and I were both a little disappointed.

Perhaps I can try the second school. I think it's in San Jose? *Scratches head* Well, a Google search can tell me exactly where it is located.

I thank you for your time, Lazylegs. You too have given me another option to consider, which lifts my spirits greatly.

Maia: I will talk with my GP about seeing a dermatologist about the bumps, but I also remember her mentioning something about being able to perform a biopsy herself, so I'll see what she says about it. XD Thank you so much.

I know I have had my thyroid tested, which was normal. Is having a parathyroid test different from this? If so, I will certainly ask about it! It would definitely be nice to have a solid reasoning behind such a major vitamin deficiency.

Also, my calcium levels were oddly normal when they tested them in relation to my vitamin D deficiency. Strangely, the number has even gone up since that last test, and is teetering on a high normal right now. Which seems strange, since I should be able to properly absorb the calcium, thus have the levels decrease, or so one might think. XD

Oh, you're all such wonderful people. You've helped me a great deal, and I cannot fully express my gratitude.

:hug:

 

[Lily]

Hi there,

I'm glad you decided to come out of hiding

I agree with the others about seeing a Rheumatologist who deals with Lupus and related illnesses all the time, especially given your low positive ANA results. I also think a Dermatology visit could be very helpful.

Parathyroid testing is different to the normal thyroid tests we have done. It's called a PTH test and it's probably a good idea to have it done. How are your vitamin D levels now?

love
Lily

 

[Myou]

Hello, Lily, it's nice to meet you! I'm glad I came out of hiding too.

I will ask about this PTH test, as I don't believe I've had it done before. It feels good to have some kind of battle plan!

As of now, my vitamin D levels are within the normal range. It took some time to find the right dosage to keep the levels stable, but as of today, I take 50,000 UNTs of vitamin D every two weeks. Anything less than that seems to cause those numbers to plummet dramatically. I just can't hold on to it!

I've been on this treatment for about a year with little change in my health, which is unfortunate. There has been some minor improvement in my joint pain, but over all, it's influence has been small...and I have this strong gut feeling that I am doing nothing more than treating a symptom. Not the cause.

You've given me more to think on, and some helpful tests to inquire about. Thank you, thank you.

As a total random side note, one of the most bizarre symptoms I have involves the swelling of my eyelids. The severity of the swelling can change from day to day, but they seem to now be chronically "stuck" in a swollen stage. Now, I know that swelling of the eyes themselves can happen with vasculitis and other autoimmune inflictions, but is it common to only have the eyelids affected? It's just so...weird to me! :lol:

Again, thank you! I am so grateful for the wisdom of your responses.

 

[Joandublin]

Hi there

It seems you have got some good advice and at least one or two more options to explore. It must be very frustrating for you after all this time to still not have answers but you are doing the right thing in persuing this and hopefully you can get to the bottom of things soon.

There could be any number of things going on with your system to explain all your symptoms - many times those with autoimmune problems wont have the luxury of just one condition to contend with and it may be that you have a number of underlying conditions contributing to your symptoms.

There was just something I wanted to add into the mix about your inability to retain Vitamin D. You mentioned you suffer from diarrohea in your symptom list and I wonder have you been investigated for this. Have you had a colonoscopy for example? The reason I mention it is that chronic inflammatory bowel problems can cause your body to remain deficient in Vitamin D. Crohns disease is one example.

Another cause of poor Vitamin D retention can be Coeliac Disease which can present with many additional symptoms, some of which you are exhibiting. Here is a link below which you might like to have a look at and also a quote from it on some of the possible symptoms:

http://www.coeliac.co.uk/coeliac_disease/default.asp

• • bloating, abdominal pain, nausea, diarrhoea, excessive wind, heartburn, indigestion, constipation
  • any combination of iron, vitamin B12 or folic acid deficiency
  • tiredness, headaches
  • weight loss (but not in all cases)
  • recurrent mouth ulcers
  • hair loss (alopecia)
  • skin rash (dermatitis herpetiformis- 'DH')
  • defective tooth enamel
  • osteoporosis
  • depression
  • infertility
  • recurrent miscarriages
  • joint or bone pain
  • neurological (nerve) problems such as ataxia (poor muscle co-ordination) and neuropathy (numbness and tingling in the hands and feet).

Anyway, I just wanted to add a few more thoughts (as if you havent got enough already! :hehe

Those swollen eyelids sound very uncomfortable by the way :worried: As you have already said there could be several reasons for this, some of which are connected to autoimmune problems. What symptom relief have you tried? Have you had any treatment for them? Sometimes the action of particular drugs on our symptoms can give the doctors a good clue to the causes. It might be useful to see if anti inflammatories reduce or relieve these symptoms which would then indicate an underlying inflammatory cause for the swelling. Also anti-histamines might help to reduce the swelling in the meantime.

In the meantime, welcome again and the very best of luck in your diagnostic journey.

Take care
Joan:rose:

 

[Joandublin]

Sorry - one thing I forgot to add. Have you had urine testing done recently? Swollen eyelids can be indicative of kidney problems so it would be good to keep an eye on that.

Cheers
Joan:rose:

 

[Clare.T]

Hello Myou

Forgive me a nitpicky general comment : lupus is an autoimmune connective tissue disease one of about half a dozen in this group but there are over a hundred other sorts of autoimmune disease. They include diseases like Celiac which can be found along with the CTD.
Rheumatologists deal with connective tissue diseases of all sorts - congenital, acquired, infectious. Not many are specialised in AI CTD's.

I agree that further more specific testing should have been done following the abnormal ANA even if the level was relatively low. It is arguable that additional testing should have been done even if the ANA had been normal. Exclusion of other possible reasons for symptoms is sometimes an important element of diagnosis.
One of the routine tests done for lupus is an item called complement, a component of the immune system, which is often low in lupus. Some chronic complement deficiencies can cause lupus like diseases. Some of us see immunologists with a special interest in autoimmune conditions like lupus and some of us have an immunologist as part of our specialist team.

I woudl recommend a dermatologist for follow up of the skin condition. The ideal is to be able to pop in to see her when the lesions are very evident if only for her to have a quick inspection. There are usually significant features that won't show up on photos. Lesions is the name for any abnormality in the skin. There are dermatologists who specialise in AI CTD conditions

Biopsies can be taken from lesions, from unaffected exposed skin like the inner forearm and from unaffected unexposed skin like the buttock. Your GP might be very competent and experienced enough to do the biopsy, but there again, try to get the most expert available. It is also best if the specimens are examined by a dermatopathologist. They don't always give clear or even positive results but if they do it is a major step to identifying the cause of health problems

By the way are your eyelids discoloured at all? If a urine test isn't done as part of any general health examination it is in my opinion a sign of negligence.

Please keep in touch and let us know how you get on - we'll help you all we can.
Bye for now

Clare

 

[Raglet]

hi Maren, I don't have anything to add as I think the others have covered things admirably.

I just had to say


Congratulations on de-lurking ! Three years, that's gotta be a record.

I am so glad you finally took the plunge

cheers

Raglet

 

[LolaLola]

Hello Maren, Glad you came out of hiding. You have been here longer than me and we didn't know!
Swelling of Joints does not always occur in Lupus, they can still be very painful even without this.
x Lola

 

[Clare.T]

Good point LoLa. In fact if a rheumatologist dismisses reports of joint pains because they aren't obviously inflammed that goes on my Signs of a Bad Doctor list. Same with dismissing any non measurable non evident symptoms reported by the patient.
Cheers
Clare

 

[Lily]

Hi Maren,

If you've been lurking then you may have read where I first presented with a Vitamin D deficiency as my first blood abnormality, like you no-one really worked out why I was deficient. Unfortunately no-one tested my kidney function or urine at the time so we won't know if there was some transient problem there. My level was 2 so not far from yours i.e. pretty darn low.
I had a different regime to fix mine, 1000iu daily for 3 months and it started creeping back up, after that it was fine, I stopped supplementation and it remained fine - a mystery to this day and I have an Immunologist as my doc.

Other reasons should be explored to rule out your symptoms, I had a bit of a trek to diagnosis, and even once I reached my Immunologist who specialises in CTD's it still took him 2 1/2 yrs to finally name what it was and start treating the actual disease not just the symptoms. In that time I had just about everything else ruled out and my bloodwork which was followed regularly had showed up enough abnormalities and along with my ongoing symptoms it was enough to be 100% sure. So you can see why thorough monitoring by and expert is the best way to go in difficult to diagnose cases and even if it isn't lupus then they have a much better chance of helping you find out just what it is.

The only time I have had eyelid swelling like that was with my severe allergies in younger years and yes sometimes they were the only part of me to swell. It's called a type 1 hypersensitive reaction. Try thinking about your surroundings and anything that you use regularly on your eyelids or face or anything that touches them or even something you eat regularly- that may help you uncover the cause. Antihistamines should help though if you can't pinpoint a cause.

Take care for now,

love
Lily

 

[nicky00]

Glad Maya mentioned the parathyroid thing.... I read your post a while ago and was'nt sure about mentioning your symptoms sounded similar to a friend of mine who has hyperpara thyroidism....she get a runny tummy and not constipation and had to go off wheat/gluten.
The latter gluten wheat intolerance was not to do with the parathyroid thing I believe.
She lost an awful lot of weight as well..

Its not much use second guessing as your symptoms had also had marks of lupus.

Its all food for thought..

Good luck and welcome

ps sorry for grammar and typos Im feeling far to lazy to correct thenm

 

[lazylegs]

Hi Myou,

Stanford University is in Palo Alto. The following link gives the medical center information

http://www.stanfordhospital.com/default.

By all these posts you can see that many diseases share the same or similar symptoms. Getting a proper diagnosis isn't easy.

Take care,
Lazylegs

 

[Myou]

Do forgive my slow response, as my personal life suddenly just swept me up and away. XD

I wanted to, once again, thank each and every individual who has contributed to my questions. You've all been a huge help in my search for answers, and I just scheduled a visit with my GP to ask for a battery of tests I've never had done before. It feels so good to have some more options available to me, and I am forever grateful.

Coming out of the lurker shadows was a most rewarding experience. I have hope again that we can figure out what is happening with my body.

Much love to each of you,
Maren.

P.S. I will most certainly be around...and hopefully posting more frequently. =D