Unexplained illness / symptoms but no diagnosis

Medically unexplained symptoms

Mystery illnesses

As has been both one of the great joys and greatest challenge of my professional life over the last 30-something years to be involved in the diagnosis and treatment of patients with medically unexplained illness.

Below I have written a number of sections which cover my clinical approach  medically unexplained symptoms or mystery illnesses.

The most important thing is that the patient must try to leave behind  the yes/no, black/white, is it in the box/is it out of the box kind of thinking which disease based medicine is both blessed with and cursed with.

Standard medicine teaches doctors how to make a diagnosis and is very useful in acute care. The standard medical model is woefully inadequate in patients who have chronic (ongoing) symptoms. Sadly, also in standard medicine when a patient has symptoms which are severe but which are not ‘in the disease book’ they may be labelled as suffering from somatic (bodily) symptoms which are coming from a psychological (stress or anxiety or emotional trauma) cause.

Each patient is different and I want to provide you with something that is readable and informative without being over turgid so I can’t really go into all the details or  you would just find yourself completely bored to tears.

I have tried to look at some of the causes of persistent unexplained symptoms which I encounter in my practice and which are generally proven amenable to treatment over the years.

One word of advice regarding the medical system in Ireland is: it is impossible for general practitioners to be a master or a mistress of the detailed treatment of every kind of medical condition. The most important skill in general practice is to be able to diagnose patients and make a competent initial assessment and prescribe treatment. The greatest challenge for your GP is to be sure to pick up serious or life-threatening illness. Unfortunately it would add years to medical school if doctors were truly to be taught detailed skills for dealing with unexplained illness. For most patients their GP is a great support, for many also a good family friend. I would always encourage patients to not allow the difficulties and challenges of dealing with an unexplained illness to blind them to the importance of maintaining a good relationship with their family doctor.

If you have potentially serious or worrisome symptoms please be certain to get checked out by your family doctor and/or consultant before coming to see a doctor such as myself who specialises in the care of unexplained illness.

  • The first patient consultation is about organising all of the patient’s history in a meaningful way – if this is done then it becomes possible to ‘see the wood for the trees’. This is important before any blood tests or laboratory investigations are undertaken
  • In medicine nothing replaces a comprehensive and concise medical history
  • Past medical history needs to be organised in a timeline form
  • To make a one hour consultation work well the skeleton information of the history needs to be provided beforehand
  • Patient and doctor must give up the idea that there is one singular cause for the patient’s symptoms which I treated aggressively will provide a good outcome.
  • Aggressive treatment merely tends to cause side effects
  • The challenge of the consultation process is to build up a probability model which can then be tested using laboratory investigations

  • Standard medicine gets confused and somewhat frustrated when symptoms are spread over a huge number of body systems e.g. headache and migraine, cognitive dysfunction (central nervous system) asthma (the respiratory system) muscle pain (the locomotor system) and are not fitting well into a previously recognised and accepted ‘disease’ pattern
  • Below is a very typical example of the patient experiences an immune insult (some sort of infection could be viral, bacterial) and who system then goes on to develop autoimmune based symptoms – the patient’s history may tell me that e.g.
    • It all began with some infection three years ago
    • The patient didn’t really give themselves time to get better and were busy studying/working very hard and write up with regard good they also found themselves struggling to get through the work week
    • Then four months later they began to get a lot of aches and pains
    • A further two months later bowel disturbance crept in with alternating constipation and diarrhoea
    • Some time later on food intolerances appeared and it became difficult to keep track of which foods were causing symptoms
    • Later again sleep disturbance occurred and sleeping tablets were needed
  • Now the patient has been diagnosed with fibromyalgia, irritable bowel syndrome, ME and they are on antidepressants, sleeping pills, anti-inflammatories and also synthetic opiates
  • Do I think these symptoms and syndromes are coming from a common cause of origin? In a patient who previously was very well? Of course I do. That doesn’t necessarily mean, though that it will be a cinch to treat

  • Every few years I will come across a patient who has severe vitamin B12 deficiency but who has not been diagnosed despite having had some consultations with a healthcare practitioner. That’s why it’s so important to see your GP.
  • As part of a chronic illness I come across huge numbers of patients on a very, very regular basis who are magnesium deficient. When I mention this to them they will often share that they are already taking magnesium but it is obvious that they are not absorbing it or, if they are absorbing it they are not keeping it in their system
  • I also like to do basic investigations like vitamin D full blood count after first visit
  • testosterone needs to be checked in a male and almost always I assess oestrogen and progesterone levels in females who are in their reproductive years

  • Free T3 levels, as well as free T4 levels are worth looking at if there is any concern
  • Thyroid antibodies ought to be considered also
  • Definitely some patients get caught in an adrenal no man’s land between normal adrenal function and Addison’s disease and so it is worthwhile to consider carrying out salivary adrenal profiling – this is controversial but a lot of medical colleagues who deal with unexplained illness in the US and the UK use this test, also
  • Many times in my career I’ve seen patients who were given far too high doses of thyroid hormone so, while it’s important not to miss an under- treated patient it also is important not to use supra-physiological doses of thyroid hormone because these patients usually end up anxious, with a racing pulse, unable to sleep and feeling strong-out generally. So sledgehammer type treatments are basically dangerous to patients.

  • Many patients suffering from chronic unexplained illness have an autoimmune/inflammatory component to their health problems
  • Almost everyone needs to be evaluated from the point of gastrointestinal function – not necessarily fancy expensive laboratory tests but they need the gastrointestinal history questions covered – there usually will be enough pointers in the medical history
  • If leaky gut syndrome (which really means that the tight junctions between cells are not tight enough) is not addressed half digested food and bacterial particles will continue to get across what should be an impermeable barrier and will reach the immune system tissue in the gut wall and perpetuate inflammation in a vicious circle type of situation

  • Detoxification is the process of breaking down old body tissues e.g. old red blood cells and byproducts of human metabolism foreign substances which get into the body including chemicals, pesticides and alcohol
  • We need our bodies to be able to detoxify 24/7. It’s not a matter of just ‘doing a detox’ which is a fad kind of thing. It’s a matter of restoring the body’s detoxification and elimination
  • Many patients with persistent unexplained illness have issues with detoxification – it may be to smells or inhalants like perfume, because we absorb these into the bloodstream through our lungs, it may be an inability to consume modest amounts of alcohol, it may be perfume’s and personal care products which we put on our skin, it may be a person who has problems in a damp environment and this points to probable overload of fungal toxins
  • Fungal toxins especially are able to get in and disrupt liver cells because they have both a fat-soluble and a water soluble end and so they are able to semi-effortlessly insinuate themselves through membranes

  • There is no doubt that some individuals have a high level of free mercury in their system
  • It is generally accepted that elevated levels of mercury are potentially toxic
  • There is a theory that the body uses fungus as a defence against toxic heavy metals
  • It’s important to pick the right time to remove heavy metals because if someone is very sick amalgam removal, despite excellent dental surgery technique, is likely to render them more toxic

  • Methylation is one of the most widespread biochemical chemical reactions in the human body
  • Methylation affects everything from neurotransmitters in brain chemistry including serotonin, melatonin, dopamine, methylation is also responsible for the manufacture of myelin which is the ‘insulation’ which is wrapped around the sheaths of the larger nerves enabling them to conduct nerve signals more speedily.
  • Methylation is important for detoxification in the liver
  • Serotonin availability and the ability of the body to carry out effective methylation reactions are intimately inter-dependent. A very high percentage of serotonin receptors are present in the stomach and sometimes some gut disorders do not respond until methylation treatment is added
  • One pointer towards probable under methylation is seasonal affective disorder – these sensible grounded individuals find themselves feeling far below par during the winter months – since, due to their under methylation, the availability of serotonin to their nervous system is poor and this, particularly may show up in the winter months.
  • Another possible pointer to lowered serotonin bioavailability and impaired methylation is sugar cravings because, when we eat sugar, we release serotonin from our platelets and that’s why sugar can cause the sugar high.

  • it is my opinion that in many chronic illnesses there may re subtle autoimmune damage to the ovaries – not enough to knock them out of action but enough to cause them to under-function and so the ovaries under-produce oestrogen, and progesterone with consequent adverse effects on the female body and mind

  • This, for years has been recognised as one of the events which can often lead to a chain of events that can leave someone with significantly sub optimal health.
  • Many people who have had say glandular fever in their secondary school years will say I never was quite right after that

  • Lyme disease is passed on generally via a tick bite – the bacterial species we have heard most about regarding Lyme (named after the U.S. town of Lyme in Connecticut) is Borrelia burgdorferi but there are 21 species of Borrelia which caused Lyme disease and 29 species of Borrelia which are capable of causing relapsing fever
  • It is not just deer ticks which are capable of spreading Lyme disease – other types of ticks present on other animals also are capable of spreading Lyme and associated diseases
  • One of the hallmarks of Lyme disease is that it has a great capability to suppress the persons immune system and thus to slip under the immune radar – one of the ways in which it does this is by impairing the immune system’s ability to produce antibodies
  • The standard screening testing for Lyme in Ireland does not look at a broad range of Lyme-causing borrelia species , also it presupposes that the persons immune system is capable of producing antibodies and so there is a significant and documented risk of a false negative result.
  • There are other forms of testing for Lyme disease which are more sensitive and these tests rely on a subdivision of the immune system called the T-cells

  • The infections which are being found in Irish patients besides Borrelia (it is mostly the burgdorferi type of Borrelia in Ireland are :
    • Anaplasma
    • Chlamydia/Mycoplasma pneumoniae and
    • Coxsackie / Echovirus
    • EBV/CMV

  • Babesia is a malaria-like parasite which infects red blood cells and which is usually acquired from a tick bite
  • Bartonella is a unique bacterium which has a nasty tendency to insinuate itself inside cells and which is capable of causing a variety of infectious symptoms for individuals who are infected with it.

  • Mould disease and Mould toxins may be a very significant initiating factor and also perpetuating factor in situations where patients who have chronic (ongoing) illness.
  • About 25% of individuals do not have a ability to mount an adequate immune response to mould infection
  • For some patients the source of the mould may be damp or water damaged housing
  • For some patients the mould source may be within their own bodies
    • There also is something in medicine called ‘auto-brewery syndrome’ which is where a person who has a mould overgrowth in the body produces alcohol from the mould . Literally they have their own brewery ! Please recall how wine is made : we put grapes which have mould (a bloom) on their surface and which contain sugar and these make the alcohol – this patient was manufacturing their own alcohol. Needless to say the patient was tired, fuzzy headed and being accused of secret drinking.
  • It is now possible to carry out urinary screening for mould toxins and this investigation has been very useful in evaluating patients who were failing to respond
  • Some of the common symptoms of mould toxicity may include:
    • Electric shock sensations, ice pick like pains, and vibrating and pulsating sensations running up and down the spinal cord
    • Other symptoms of mould toxicity include re fatigue, muscle cramps and aches, headaches, sensitivity to bright light, abdominal pain and diarrhoea, chronic sinus congestion, cough, chest pain and shortness of breath, cognitive impairment, joint pain and morning stiffness, metallic taste in the mouth, excessive thirst, heavy periods, night sweats, equilibrium problems and dizziness, frequent urination.

  • Chronic infections affect the cytokine system(immune messenger system) in the human body and these cytokines have widespread effects both within and outside of the brain
  • Normal pituitary / hypothalamic endocrine functioning may be affected
  • The ‘weight control system’ may be affected because normal chemical messaging for satiety within the body is affected and this is one of the reasons some individuals with chronic illness may put on a lot of weight during their illness.

  • Treating unexplained illness can best be compared to peeling an onion – start on the outside layers
  • Do not provoke detox type reactions. If, as a patient, you are experiencing them back off on the treatment ­- be very, very careful about being unduly aggressive because if you get a severe worsening of symptoms then their progress may be put back for months so – it is not a simple matter of just taking a little bit more pain now to move the treatment along much more speedily. Go slowly.
  • Over the years, especially when someone’s health is seriously compromised and they are, for want of a better term ‘worn out’ they need treatment first of all to build them up so that they are physically stronger and to get their liver functioning better and the kidneys excreting better before commencing any kind of detoxification.
  • It also is important to address issues such as severe persistent constipation before beginning treatment otherwise one will end up releasing a lot of fungal toxins or bacterial debris in the gut and one will just make the unfortunate patient sicker and sicker

  • The patient needs to be part of a team with the doctor, to try and understand why they are taking the treatment.
  • You need to be able to give recovery your best shot. That means working together with the doctor.
  • Functional medicine is systems-based medicine and we need to get rid of primitive ’magical thinking’ imagining that we are going to take some magical pill which will change everything