Undiagnosed illness after 4 years of tests

[johnassist]

I am writing this on behalf of a close friend whose health is now deteriorating rapidly and is suffering from a yet undiagnosed condition.  This has been going on over the last 4 years to a point now were he is almost immobile. We cannot get a diagnosis of what he is suffering from for the past 4 years despite seeing numerous health consultants, neurologists and having various medical test such two MRI scans, regular blood test and large daily dose of over 20 tablets a day for various chronic symptoms.
JUNE 2013
His condition started in June 2013, when he was a fit active farmer then aged 45 with no health complaints and rarely visited the doctor. He was out working hard every day on a busy farm.
It started with pains in the shoulders and hips and feeling very tired and sleeping very poorly. Didn’t go to the doctor, just took a lot of paracetamol and got on with things.
This continued and his condition deteriorated progressively over the next 2 years until May 2015 and developed more symptoms got so bad he was unable to do his work. Symptoms such as severe headaches, sore throat, very tired and low energy as he was barely able to sleep with only a couple of hours a night.  Also starting to feel very down and depressed and is on medication for that .
May 2015
He finally went to the GP again almost 2 years from the first symptoms as the pains and symptoms were now very severe.  He was then sent to a Rheumatologist who suspected fibromyalgia or polymyalgia and treated with steroids but these had no effect.  
By this time the nights were very uncomfortable with no sleep, low energy and lack of motivation.  Also very difficult and time consuming to go to the toilet and empty bladder.  Lately the headaches are less frequent.
Went back to the GP and still no answers as to what his condition was so was referred for his first MRI scan which revealed nothing.  Then referred to a Neurologist who sent him for a 2nd MRI scan and a CAT scan and Lumbar puncture and a Lung Biopsy which again revealed no answers as to what was wrong with him.  
He also had a lump removed from groin and one from face, both tested clear. He then started a large dose of steroids which helped the appetite for a few weeks but his symptoms remained the same and his condition continued to deteriorate.
Jan 2016
Skin problems started and fungal infection treated with cream and tablets.  Balance and joint problems become bad and he fell down the stairs twice and around the house a few times.  A lot of care and support then required from his wife and family at this point.   By mid 2016 he developed temporary blurred vision in one eye for a minute.  
It might also be relevant but this was a similar symptom to his sister a year younger who was diagnosed with Multiple Sclerosis in 2006 and developed blurred vision in both eyes at the start of her condition which she is managing since that time. The symptoms are occasionally severe for her with sometimes high doses of steroids but mostly good spells and she is fully mobile.
 
PRESENT DAY AND ADDITIONAL INFO
A walking aid is now required and a wheelchair more and more.  His joint and mobility problems are still deteriorating and in the last 6 months his teeth have started to decay.  His teeth were always good and he attended the dentist regularly for check-ups and treatment if needed.
He has a Synacthen test at the Endocrine clinic. He was tested at infectious diseases clinic. Blood tests inflammation levels are slightly above the normal range. Vitamin D below normal. Testosterone level is low. He had a Bronchosopy test (examination of the lower tract). He had an MRI with contrast and a Scrotal lump removed.
SUMMARY
At this point his family and friends are desperate for a diagnosis and treatment and are at our whit’s end as he continues to go downhill and very frustrated that we still don’t have a diagnosis as what his illness is to get him on the right treatment options.  We are extremely gratefully for all the treatments and tests to date by the various medical professionals to date and in no way, can fault there dedication.  
They are also very frustrated at being unable to diagnose or treat his condition so we are reaching out to this forum to share his story with others who may recognise something from this narrative.
Also in the hope that someone can maybe suggest something that could help us find out what he is suffering from or suggest a route to try to get to the bottom of this mystery condition.  Our gut feeling at the minute is it is MS but this has been dismissed for now by the medical professionals.  Or it may be some form of rare disease but which one?

Regards

John (A close personal friend)

[johnassist]

Current Symptoms

• Fatigue
• Joint Pain (Hips, Shoulders, Elbows, Hands)
• No Appetite
• Can’t Sleep
• Vision problems
• Balance
• Shortness of Breath (Not all of the time )
• Rash on head, face and chest
• Takes a long time to pass water
• Tooth Decay
• Short Term memory
• Low mood
• Dry mouth
• No concentration
• Mouth twitches
• Muscle spasms
Medication
Morning Tablets
• 2 M.S.T Continus – 10mg tablets
• 1 Pantoprazole – 40mg tablet
• 1 Gabapentin 600mg tablet
• 1 Duciltia – 60mg tablet
• 1 Adcal-D3 Tablet
• 1 Colecalciferol – 800 Unit – Capsule Fultium-D3
• 1 Folic Acid – 5mg

Afternoon Tablets
• 1 Gabapentin – 600mg tablet
• 1 Sevredol – 10mg tablet

Teatime Tablet
• 1 Arcoxia – 90mg tablet

Night Time Tablet
• 1 Mirtazapine – 45mg tablet
• 1 Temazepam – 20mg tablet
• 2 M.S.T Continus – 10mg tablets
• 1 Pantoprazole – 40mg
• 1 Gabapentine – 600mg
• 1 Adcal-D3 tablet
• 1 Zantac – 300mg tablet

During Night Tablets
• 2 Sevredol – 10mg tablets