Living with an Undiagnosed Illness

Most of us believe that if we get sick, we can see a doctor, and they will find out what is wrong and start us on our path towards recovery.

But what if your doctor doesn’t know what is wrong or how to treat it? This is the story of many people worldwide, and yet it is rarely talked about.

The medical community undoubtedly wants to keep these stories out of the limelight, for risk of losing the public’s trust. But the truth is that there are several reasons why a person may miss out on a diagnosis, and it is rarely the fault of the doctor; however, there may be times when doctors can improve their approach. 

Here are a few scenarios:

The Invisible Illness
The patient’s symptoms are vague and self-reported. The GP either assumes a common illness fitting those symptoms, or the basic tests they perform all come back normal, and the doctor suggests the patient comes back if they get worse or the symptoms don’t clear up.

Persistent patients, or those whose symptoms are debilitating, will likely persevere with their doctor and push for further testing and to see specialists. This may eventually lead to a diagnosis, but even then, it may take months or years if symptoms are not backed up by abnormal test results. Others with milder symptoms may just learn to live with them.

Doctors may become suspicious of hypochondria, and suggest that the patient also takes steps to help them deal with the symptoms psychologically. This is not necessarily a bad thing if it helps the patient accept the situation, as long as it is not assumed that it is solely a psychological issue.

The Oddity
This patient presents with a variety of symptoms. One of them is apparent to doctors (either directly visible or easily determined), but further testing doesn’t explain why it is there.

Doctors may initially appear very interested in these cases and want to find the cause. But they may quickly lose interest/concern when results come back normal and, unless the illness becomes life-threatening or increases in severity, the patient may eventually be discharged from care without a diagnosis.

Symptoms may be treated directly, but doctors may (understandably) be reluctant to treat an unknown disease, in case more harm is done than good.

The Overly-Trusting
We should all have faith that our doctors are trying to help us the best they can. But, they are only human.

If your symptom description leaves something to be desired, or you feel the doctor has missed something, it is your responsibility to speak up or seek a second opinion. Doctors can only work with the information they are given, and what seems irrelevant to you, may be the final piece of the jigsaw to your doctor.

This type of patient describes their symptoms to the doctor, and the doctor assumes a minor or common illness, telling the patient the symptoms will likely resolve on their own, but advising him/her to return if they do not.

This overly-trusting patient will accept the doctor’s diagnosis, and will feel too silly to return if the symptoms don’t resolve. It is a minor ailment, after all.
DON’T DO THIS. DOCTORS ASSUME YOU’RE BETTER IF YOU DON’T RETURN. THEY WANT TO HELP YOU. GO BACK TO THEM.

My Story
I had experienced a variety of strange symptoms, some of which I had seen a doctor about, and some which I hadn’t. I had been given a couple of possible diagnoses (asthma, migraine, viral ear infection…) over the years, but didn’t feel that any of them were correct. Each symptom either resolved on its own, or didn’t increase in severity, up to that point. Other than the ‘asthma’ attack (which didn’t involve any wheezing or coughing and felt more like my diaphragm was temporarily paralysed), none had been life-threatening or particularly serious.

Then, things came to a sudden head four years ago when I was twenty-four. My left little finger became numb, and over a couple of weeks, the numbness travelled up my arm, and eventually spread to the other arm, my left leg, my back, and my face. During this time my scariest and permanent symptom also arrived: Paracentral blind patches in both eyes.

I had seen my GP when the numbness was restricted to my left arm, and told it was likely caused by a trapped nerve. But it takes a while to get an appointment, and so I wasn’t able to see anyone as it continued to spread.

The arrival of the blind spots was possibly the scariest day of my life, eased only by the delusion that they would probably be temporary. At the same time, they were a symptom that would be ‘visible’ to doctors on a visual field test, so I felt reassured that it wouldn’t be long before I would get a diagnosis and begin an appropriate treatment.

The opthalmologist carefully examined my eyes, but didn’t offer an explanation.
“Your eyes look fine,” he stated, which eased his concerns of a detached retina, but didn’t do much to help me.

Over the next few months, I had a variety of tests, including blood tests, MRI/MRV (without contrast), Fluorescein Angiography, Visual Evoked Potential, EKG, and several visual field tests and eye exams. Needless to say the results were all normal. A slight abnormality was picked up on the EKG, but it didn’t appear to worry anyone, despite episodes of tachycardia in the past.

Overall I was very impressed by the examinations that the NHS offered me, and my only dissatisfaction involved human error (including my own lack of persistence – worry is exhausting), and ‘The System’. Inevitably there was a waiting list that meant procedures were performed when my mystery illness was no longer in its acute stage, i.e. the numbness had subsided, and the eye symptoms had presumably become residual damage rather than the inflammation or trauma they had started out as.

Eventually my investigations turned into periodic monitoring, and ultimately to discharge from care. It had been a trying year, and whilst I failed to mention to doctors that the reason they had thought that my vision had improved somewhat during this time was because during the ‘monitoring’ stage I had received broad-range field tests rather than the central one that had led to the discovery of my blind spots (I’m not perfect and it’s hard to remain persistent, which involves arguing with doctors), I had only one recurrence of numbness, which was restricted to one thigh, and resolved much faster than the previous episode. I hoped this was over, but still worried about my missing vision and desperately hoped it would one day return, or at least remain stable.

What we can Learn
As humans, we need to be aware that some struggles are invisible to others, and to remain compassionate and accepting towards one another, and accept what they tell you without judgement.

As employers, you need to be understanding of the need for medical appointments, and know that a healthy and cared-for employee is a more productive and loyal one. We also need to remember that people with disabilities are not redundant, and may prove to be your best employees if accommodations can be made.

As doctors, you need to listen to what patients are saying. They know their own bodies better than what a test result can tell you, and there is still much that is unknown in the medical world. As one doctor once told me, “Medicine doesn’t have all the answers”. Don’t dismiss a patient as ‘depressed’ when they appear upset; listen to why they are upset. Could you live with all of the symptoms they are describing? Sometimes it is better to admit that you don’t have the answer, rather than condemn a person to a psychological diagnosis. Perhaps their anxiety is situational, rather than chronic.

As patients, we must listen to our instincts, and learn to take responsibility for our own healthcare. Doctors make mistakes; this does not mean they are negligent or incompetent, but they are only human. If you’re not satisfied, seek a second opinion, or persist with your current doctor. Write down your symptoms on a timeline so that you don’t forget anything, and can tell your story coherently and peristently. You will probably be anxious on the day.

Ultimately, put your health first. Always. You never know when it may be taken from you, and you need to be prepared to fight your case.

Warning: This is a Rant…

I appreciate British healthcare and the NHS, I really do, but sometimes I think medical staff are forced to justify their actions to such an extent that patient wellbeing suffers unnecessarily.

For example, if I went to my GP with a stomach bug or a fever, they will happily hand out antibiotics without a formal diagnosis. They don’t pass you from specialist to specialist so that by the time you finally receive treatment the infection has spread to the rest of your body!

But this is not the case with all types of illnesses.. I am now on my 3rd ‘episode’ of whatever this is (see previous posts for details). I know with things like this they often tend to take a ‘wait and see’ approach and a lot of people are left in limbo for years during this time with no treatment.

In my case, although most of my symptoms largely ease after each episode, the damage to my visual field remains permanent. But the last episode lasted from May to October 2012. I just wish that a doctor was able to try treating me with something without a diagnosis. I have heard cases where GPs have handed out a single course of steroids without a diagnosis but this is not my experience.

I actually got upset at my opthalmologist appointment this morning due to the feeling of helplessness, to which he suggested I see my GP for ‘psychological help’. I don’t want that… Sorry for the rant.