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.

The weird symptoms of a VSer

Okay so to most people visual snow is a weird enough symptom/syndrome in itself. But within the Visual Snow Facebook group and forum, I often notice the description of symptoms I did not know were possible even for a VSer.

VSers are united by their symptom of TV-like static in the visual field. It may or may not be more noticeable under different light levels, or times of day, but most VSers have this symptom 24/7. It can even be seen with closed eyes.

Goadsby and Schankin have recently published research suggesting that visual snow sufferers experience hypermetabolism in the lingual gyrus of the brain. However, this is merely a correlation and does not identify a cause. Further research is expected to commence in the near future, once the fundraising target has been raised.

There is currently no known treatment for visual snow; however the static is often not the only, and sometimes not the most debilitating symptom suffered by VSers. Symptoms commonly suffered by VSers are tinnitus, brain fog, derealisation/depersonalisation, fatigue, and anxiety. However it is not uncommon to see symptoms previously unheard of, even by your average VSer, described by member of the group.

The opportunity for sufferers to talk with others about their symptoms is of course largely a therapeutic experience, especially for sufferers of such a rare condition, many of whom have had negative experiences with members of the medical profession that haven’t heard of the syndrome before. However, ‘symptom sharing’ may also pose a potential psychological problem because of one influence. The power of suggestion.

Sufferers may read the description of another member and, realising they share a specific symptom, be able to eventually put a name to their symptom. But alternatively, it may cause a sufferer to realise the possibility that a symptom exists, which they may then dwell on, and self-analysis of an already anxious individual can lead to all kinds of stress.

I personally recommend ignoring posts that you know will not be useful to you. Discovering the similar plight of another may be comforting, but reading  about all the possible things that can go wrong in the human body may induce extra worry that not even a healthy person needs.

Video: Visual Snow for Beginners

Visual Snow for Beginners: http://youtu.be/0V-XFbah0LM

For anyone who read my post on this topic, this video may help to summarise that information a little better.

For those that haven’t heard of this condition, I would be grateful if you could spend a few minutes of your time to familiarise yourself with it. The more people that know about it, the better. It’s about time that people could discuss their symptoms with their doctor, without receiving a look of bewilderment. Thank you.

Uncertain about uncertainty

I have recently realised that there must be a lot of people out there who also have to deal with uncertainty.

It is a difficult feeling to deal with. It affects all aspects of life, because it affects goal-setting, and most things in life require a goal to be successful.

For those dealing with uncertainty, you are forced to choose between setting goals which may not be achieveable, and then the feeling of disappointment, if not also financial loss, if they cannot be achieved; or not setting goals in the first place, which can lead to a feeling of unfulfillment.

Most of those dealing with uncertainty can probably look back at a time in their life that was filled with ambition and plans, and wish that they had put more effort into reaching those ambitions at a time when they could. Because now they are filled with motivation but they have nowhere to put it.

So when you are planning your holiday next year, or choosing which university to attend, remember to reach for your dreams now, because you never know when uncertainty is around the corner.

Chiari I Malformation

Ok I would LOVE to get a comment from anyone who has this or knows something about it. Could it cause the following symptoms? And could it be missed on an MRI that was only briefly looked at by a neurologist, and then all of my doctors since then have just seen the report basically saying “everything is fine”? Thanks in advance.

Symptoms are:
– Headache in base of skull and pulling sensation when sitting in certain positions
– Increasing number of blind spots in vision, which never get better
– ‘Snowy’ vision since a teenager (but worsening), particularly in dim light. It is hard to explain this to someone who doesn’t experience it, but basically a little like bad TV signal or white noise
– Occasional skin numbness
– Dizziness and slightly impaired balance
– Weakness, particularly during/after exercise
– Heart palpitations and sometimes faint heartbeat
– Poor circulation to hands and feet

The worst part is obviously the blind spots in my vision because the lost vision shows no sign of returning. I have had all tests under the sun and the field of vision test is the only thing that actually allows doctors to believe I have a problem, but they say they can’t see anything wrong when they look into my eyes.

I had a lumbar puncture last year and the doctor said the CSF pressure was normal at that time (I was in hospital as an in-patient at the time), which stumps me even more.

Thanks.