Is this Wilson's???

[rosco01995]

Hi,

I need some help with a worsening medical condition that has been present for the last 6-7 years. I have had bouts of ?anxiety, ?depression and and ?PTSD according to several GP's as they bounce me out of their office quickly relegating me to the Psych realm of which there is little chance of return but am not convinced. I am happy for this to be the diagnosis but make it the diagnosis of exclusion not convenience! I have been experiencing reflux for the the entire 6-7 years and Proteinuria, renal colic x2 (no stones found to date), tachycardia and bouts of hypotension and palpitations. profuse sweating and subsequent dehydration. I have developed a sulphite sensitivity and impaired glucose tolerance. I have muscle twitching that is rythmic and lasts for sometimes days. muscles stay contracted occasionally such as neck muscles from movement. developing sore joints particularly small joints. Tremors of hands intermittently on tasks such as food prep etc. Insomnia and teeth grinding with what seems like muscle rigidity in jaw whilst not focussing but can relax for brief periods when I force it. leg kicking out at night as falling asleep. A stutter I had as a child has returned and bowel pain and troubles. with pain aching pains intermittent in right and/or left upper quadrants. Banging headaches occasionally enough to take me out of action for the rest of the day. I do have sometimes pink to red urine (infrequent) and a blistering rash on exposure to sunlight for long periods that appears after 1-2 days and turns almost purpuric. The only illnesses I have had as a child are VZV, measles, and 'jaundice'  at about age 8-9 where I was kept in a dark room for nearly 4 months. I have had injury to my neck with a subluxation of c3/c4. other than that eery thing is unremarkable.

Direct Family history of Hypertension and Graves disease.

Out of desperation I had a hair analysis done to rule out copper as a problem after my doctors dumped me and put it down to and I quote "you are to highly strung and need to relax".

This came back with high amounts of copper @

I went to another GP with these result and he agreed to do the test I wanted at my expense as he laughed.

I ordered a ceruloplasmin 0.15g/L, Se Cu 12.4umol/L, LFT all norm but slightly raised bilirubin (1 point above ULN) and Glucose 6.5mmol, Urine Cu .070umol/24hr.

Previous testing ANA -ve
Plasma normetanephrines 1600 (ULN 900)
Cortisol normal
TFT all normal

I am 37 yo caucasian Male 170cm tall 59kg of English decent. I live in Australia.

Could someone please provide some clues or advice on where to go as I am coming up against a brick wall at every turn and no one wants to look past Anxiety, PTSD, Depression.

Thank you,

Mark.

[geargarage]

Mark, this post is old but came up in my search for info re Wilson's Disease. The reason I'm researching is that I had my genetics tested to help figure out the root of my anxiety/depression/OCD issues. I had never heard of Wilson's before, until my results came back, showing compound heterozygous mutations of gene ATP7B. If you haven't, I strongly suggest you have genetic testing done as it will help to better inform you of which avenues to investigate.

I ordered my genetic test from 23andme: bit.ly/17Ykz7r

I hope this helps!

[SaraH568]

Mark - another forum that you may want to look into is ***********.  They also have a good network of support for people with possible WD.

[hava]

Some of your symptoms will be under control, after you start this pranayam for 30 minutes, twice a day.Let me know when more than one symptom is getting better, then I will suggest more techniques to get you better. Drink warm water and avois cold drinks. When you are doing the aulom vilom, keep your eyes closed, and concentrate on your third eye (point between two eyebrows).
Build up your timing gradually.If you feel tired or dizzy, stop and resume after one minute.
Anulom Vilom pranayam –
Close your right nostril with thumb and deep breath-in through left nostril  
then – close left nostril with two fingers and breath-out through right nostril  
then -keeping the left nostril closed  deep breath-in through right nostril
then - close your right nostril with thumb and breath-out through left nostril.
This is one cycle of anulom vilom.
Repeat this cycle for 15 to 30  minutes twice a day.
Children under 15 years – do 5 to 10 minutes twice a day.
You can do this before breakfast/lunch/dinner or before bedtime or in bed.Remember to take deep long breaths into the lungs.You can do this while sitting on floor or chair or lying in bed.
March 20 ,2011

[rosco01995]

Thanks for the reply and your thoughts.

I have SLE on my list and that would explain alot but as soon as ANA came back -ve it was dropped like a sack of hot bricks. A low ceruloplasmin is another non specific indicator of it not likely being SLE but haven't had a-Cardiolipin  or or a-Phospholipid etc but further testing I am open for on anything if it helps rule out or in anything. HIV etc are always neg each year. I have these annually with work and if there is an exposure to body fluids. I am at no risk from my lifestyle choices. I do not use drugs. don't drink as it 'bombs' me for about 3 days (even a couple of drinks) and I figure not worth it. no stimulants other than nicotine from smoking, no gambling, no risky behaviours, no compultions or impulsive behaviour (other than finding what is causing my symptoms) it is not Medical student syndrome or hyperchondriasis. I am confident that neuropsych symptoms are a component (with a little anxiety from me built up over the years of being relegated to the abyss of the mental health realm from which there seems to be no return) but with an underlying cause.

During allergy testing I have discovered an allergy to Yeasts about 3 years ago.

Thanks for you thoughts on this and I will continue to try and decipher all of this as I go. Ifyou have any other thoughts please don't hesitate to post them

Thanks,

[Narble]

You've been very thorough. And I can see why psych issues alone would not explain what's going on with you. Have you been seen by a rheumatologist? I saw that your ANA was negative, but there are other tests, and several autoimmune disorders for which ANA is not a reliable indicator. A possible area to be evaluated in is autoimmune disorders, many of which would include multiple chemical sensitivities, photosensitivity, and even fungal infections. Although disorders like lupus (specifically, SLE) are rare, they can present with a symptom pattern similar to what you're experiencing.

If you haven't had an HIV test, that might be worth considering too, just to rule it out. If your past history and lifestyle make HIV infection impossible, then ignore this idea.

Lactose intolerance is probably just a normal part of aging, but if you're having new allergies or sensitivities to other foods, then it may be related to whatever is going on.

Hope this helps. Inborn errors of metabolism, like the porphyrias or Wilson's, are often difficult to diagnose. But I'd rule out other possibilities, such as autoimmune disorders, too.

[rosco01995]

In addition to this I have also had multiple skin fungal infection over the last two years and ulcerated gums and oral thrush. Whether this is related to the clenching jaw or grinding teeth I am unable to answer that.

Hope that helps.

[rosco01995]

Thanks for your reply but Porphyria was number one on my hit list but they don't want to check for that either. The only urine test to check urine discolouration at a time of being unwell was for Myoglobin but I am far from an athlete or in any endurance training in the absence of trauma or rhabdo. My bilirubin comes back high intemittently but not significantly higher than reference ranges ALT & AST are normal but I thought only high in some cases not necessarily in neuropsych presentations. I appreciate the psych diagnosis as it is very valid but even my psychologist (that is saw to entertain the idea) is concerned that something else is going on that is causing this afetr two years. I am a prettty rational man and there is anxiety involved without question but I can almost pin point the month the first symtom began and they just keep mounting up as the months/years go by. I will run full coags this week when I get the chance to and am going over previous result with fine tooth comb. ECG shows LVH on voltage criteria and Left Axis deviation (i know not exactly reliable but...). I have previously in this time presented to ED with chest pain and given Anginine to relieve BP of 133/113 and tachycardia. Subsequent stress test came back fine after 15 minutes on the treadmill as it increased speed and incline. Lactose intolerance has recently shown to be a problem but that could be natural progression of the ageing process.

I have a direct cousin who had some psychiatric issues and subsequent catatonia showing what looked like encephalitis. After a few months of every antibiotic and antiviral thrown at her she slowly recovered but has been left with congnitivee deficits. Several direct aunties and cousins have or had have cirrhosis but alcohol would most likely be the contributing factor to that. They all live on the other side of the world and I am not close. Aside from mother and brothers I can offer any more than that.

Nickel also came back high on HTMA and that I can attribute to the rash at a stretch in the absence of Porph testing. That could also explain the adrenaline rushess and possibly some of the anxiety symptoms. Hence why Pheochromocytoma was on the list.

If you have any other Ideas would love to hear them.

Thanks again for the reply

[Narble]

I can see why you're frustrated, and why you might consider Wilson's disease as a possible explanation. But Wilson's is not hard to diagnose: liver AST and ALT are typically elevated, as is bilirubin and prothrombin time. Also, Wilson's is hereditary, so family history would be a consideration. If no one in your family has ever been diagnosed with it or suspected of having it, that makes it less likely that you have it.

You mentioned several signs/symptoms that make me think of porphyria, in particular the change in the color of your urine, skin reacting to sunlight, and impaired glucose tolerance. Testing for porphyria is tricky. There is now a DNA test, but it's expensive and may not be available where you are. Otherwise, it's urine. And besides, porphyria is rare, and not necessarily the best fit for your symptoms.

A psych diagnosis also fits. Have you pursued treatment based on those diagnoses? Has the treatment helped? Whatever is going on, I hope you can get good treatment soon.