Getting diagnosed is a journey, not an event

Doctors can and often do make the wrong diagnosis.

There are also people, especially those who spend a long period of time without a diagnosis, who start to see a diagnosis as a holy grail – that one true thing that will make their lives ok again.

What a diagnosis is

Diagnoses are labels. They describe a cluster of symptoms and sometimes an underlying cause for those symptoms.

Often(but definitely not always) these constellations of symptoms come with a treatment plan – something that can and should be done to minimize the symptoms, correct the underlying issues, and generally create a vague prognosis – or estimate of what to expect in the long term.

This prognosis is based upon what has historically occurred with people who share this diagnosis.

What a diagnosis isn’t

Having a diagnosis doesn’t mean that there’s a cure.

Some diagnoses are actually just descriptions of what is happening, and as such may be useless.

For example, osteoporosis is relatively common in older women, mainly due to hormonal shifts that accompany menopause. While less common in older men, it does occur as well.

However, younger men and women who have osteoporosis need to dig deeper to find the root cause of their condition(osteoporosis is a symptom, in this case, not the whole problem).

Diagnoses are also not something we can select – wishing that you didn’t have cancer isn’t going to make the tumor go away, but the appropriate treatment might.

While a diagnosis isn’t a cure, it is a necessary step towards having your best possible life with your condition.

The challenge of being properly diagnosed

Doctors don’t often talk about ‘accepting’ a diagnosis, but as a patient, this is likely the most important(and sometimes extremely challenging) decision you need to make.

Very simply – you need to feel that the doctor’s diagnosis is correct and accurate in order to rebuild a healthy life for yourself.

If your doctor can prove to you that you have a particular condition and help you find the correct treatment, you are likely to recover, manage, and generally improve your quality of life as much as humanly possible.

However, if your doctor is wrong(which occurs for one out of every 20 patients), their suggested treatment isn’t likely to help your condition, and whatever is wrong is likely to stay the same or get worse.

Accepting your doctor’s statement too early won’t help you manage your condition or appropriately adjust your expectations of yourself.

Denial or refusal to recognize conditions is another concern when it comes to being properly diagnosed.

If you refuse to accept a correct diagnosis, you also won’t be given the appropriate treatment and either lose the opportunity to recover or have that possibility delayed until you accept your diagnosis.

This isn’t about what you want or what your doctor wants, it’s about the truth that your body speaks.

Accepting my Functional Neurological Disorder diagnosis

It took me over 3 years to get a reasonable and correct diagnosis.

When I was diagnosed, there was no real treatment plan, just some outlined suggestions that I used. 16 years after my diagnosis, I found a treatment program in another state.

There was only one location for treatment prior to that, which had a multi-year waiting list.

For me, the key to acceptance was twofold

1. I had a fair amount of diagnostic testing done, and none indicated any physical or structural issue with my body
2. I saw a movement disorder specialist who was able to rule out the other major likely causes of my shaking and rocking.

If I had no testing to rule out other physical causes, I would have wondered if they missed something.

Seeing a specialist in my symptoms(strange uncontrolled movements) reassured me that he knew what to look for and that that condition covered all of my major symptoms.

As an example, one of my big issues had been with my bladder and urinary urgency.

The urologists I saw were able to prove that there were no major problems with the structure of my bladder, but couldn’t explain my symptoms.

However, the movement disorder specialist could explain my movement symptoms and reassure me that FND(then called conversion disorder) often has incontinence as a symptom.

I had peace of mind that I had a useful diagnosis, and while the treatment plan was vague(rest, reduce stress, and talk to a therapist to determine and reduce triggers), I knew that I had a problem that didn’t require more invasive treatments and which I could recover from by managing my stress.

You need a useful differential diagnosis

Doctors make mistakes, so it is important that you not just accept what a doctor tells you as if it were guaranteed to be true.

Generally, doctors use the process of differential diagnosis to identify your condition. Often, this process involves testing that can confirm that you have(or don’t have) a specific condition.

Make sure that the doctor(or doctors) involved can give you a clear description of how they analyzed your symptoms to determine your diagnosis.

You are the only person who knows your own experience.

Your doctor is trained to be an expert on what human bodies do(or don’t do) in general, on average. However, you are the only person who knows your body, your mind, and your symptoms.

The goal, then, is for your doctor to prove(ideally through x-rays, blood chemistry or other scientifically valid assessments) that they have correctly diagnosed you, by confirming that their understanding and description of the diagnosis fits with your experience.

With my FND, the testing done ruled out options(like epilepsy, structural bladder issues, and interstitial cystitis), and led me to a movement disorder specialist who recognized the patterns.

His explanation of how FND worked fit very well with my lived experience(stress-responsive, inconsistent, and including urinary symptoms), and I knew, deep inside, that it all fit together.

While technically a diagnosis of exclusion, it was one reached by an appropriate expert after the appropriate testing was completed.

When I was told I had interstitial cystitis, part of me believed her, but I had doubts and it didn’t fit together so neatly.

I couldn’t totally put my finger on why, but I had fears and doubts throughout the process. I confirmed this by getting a second opinion.

Al’s acetabular fracture was undeniable, but the cause was more challenging.

I did some research on celiac disease, one of a few possible causes mentioned by an endocrinologist, but it didn’t feel like a good fit.

Among other things, the symptoms didn’t line up well(osteoporosis is a relatively uncommon and late-stage symptom and usually gastrointestinal issues are the primary symptoms) and it’s relatively uncommon in people of Latino descent.

If your doctor is only able to make a diagnosis of exclusion or if they seem to be ignoring some of your symptoms, you need to keep searching for a useful answer – most often to be found with specialists on your symptoms.

If the medical tests and your experience line up well, then it’s much easier to accept and handle whatever the treatment plan and prognosis are.

The wait time involved

This is the big thing: going from ‘something’s wrong’ to ‘I know exactly what it is’ takes time.

First, there’s the delay between when you first notice the problem, and when you see a doctor about it. For some people, it’s relatively short, but for others, just that step can take months to years.

Secondly, there’s the time between deciding to see your primary care physician and when you actually do – which can take days to weeks depending on the severity of symptoms, your doctor’s availability, and your willingness to push to be seen sooner.

Thirdly, there’s that time between when you see your doctor and you actually get results – a rapid strep test only takes a few minutes, but most testing gets scheduled and then the analysis takes a few additional days – sometimes it can only be discussed with your doctor at the next appointment.

Some doctors may also at that time recognize that your symptoms are ones they can’t treat or identify, so they immediately refer you to a specialist.

The only ‘shortcut’ through this process is if you have a sudden and severe symptom that requires a trip to an Emergency Room.

That does usually lead to immediate analytical testing, but that’s usually because it’s a potentially life-or-death situation.

Also, our system is currently so broken that even people who do the right thing and go to the emergency room still might not be treated.

The fourth big step is you and your doctor(s) processing the findings and potentially doing more testing or sending you to additional specialists. This step can be repeated through many iterations, each of which can take months.

It took me about three years to get diagnosed with FND, though I did spend over a year in remission and with no treatment or attempts at diagnosis.

It took over six months to get correctly diagnosed after severe movement symptoms and loss of bladder control occurred.

Al’s case involved a wait of six hours or so from undeniable injury to the diagnosis of an acetabular fracture, but it took us another year to discover the underlying cause – autoimmune pernicious anemia – and start treating that with B-12.

I’ve heard stories from other chronically ill folks of it taking years – sometimes over a decade – to go from problem to diagnosis.

If long waits are involved, it often feels like you’re in this horrible limbo – you can’t do much of anything because you don’t know why these symptoms are occurring, what is causing them, or how to stop it.

As more deadly options get ruled out(testing often starts with the most obvious, severe, or immediately life-threatening options), there is some relief, but that mystery aspect is stressful in and of itself.

Also, of course, while waiting there aren’t any definitive treatment options, though many doctors will spend that time trying different medications for symptom management.

People spending a long time undiagnosed will create some patterns or attempts to manage and keep living their lives, but the entire process is always laced with uncertainty.

Often there are also financial costs of finding the correct specialist and treatment – and those costs tend to multiply as available options are tried, and fail to produce a diagnosis.

Creating your new normal

Once you understand what you have, how it can be managed, and roughly what to expect in the long term, you can truly start to plan your future and have an idea of what your ‘new normal’ might look like

Al has been through two major expectation reshufflings – the first after a traumatic brain injury(TBI), where his emotional control, sense of balance, and memory were damaged, and the second after his acetabular fracture.

With the brain injury, a long-term prognosis wasn’t possible – he simply was in not good shape and very slowly recovered, with him eventually(a bit over a year later) primarily left with a constant headache.

The first few weeks his normal was simply sleeping a lot, until we were able to get him to the right doctors and start the intensive treatment programs he needed.

In his case, that was a combination of vestibular exercises(with a physical therapist) and cognitive rehabilitation(with a neuropsychologist).

We knew that he would eventually recover some of what he’d lost, but just how long it would take was a mystery, as was how complete his recovery would be. I am very grateful for how much he did recover and for his willingness to keep going to all the treatments he needed.

With his hip, things were a bit better defined in some ways.

The break itself had a very straightforward, though technically difficult treatment plan(surgically rebuilding his acetabulum), with specific rules and timelines.

We knew he wasn’t allowed to put any weight on his injured side for 10 weeks(he was allowed to use a walker or crutches during the time, he just couldn’t put any weight on that leg), and after that time he would need to start physical therapy and relearn how to walk.

In the long term, he ended up being in constant mild pain, which was much worse in snow (and worse in rain), as well as pain-based limitations. Holding any position for a longer period of time would become increasingly painful, which gives him a pain-based limit for how far he can safely drive at a time.

We have adjusted to these new rules, and you can too!

If you have an allergy or sensitivity or intolerance, you may need to make a (possibly severe) change to your diet.

Stress-responsive conditions may require an adjustment in mindset or personal expectations.

Physical damage may result in pain-associated limitations.

The good news is, though, that once you recognize and accept these limitations you can start to focus on what you can do, can learn, can become.

Next week’s post will talk about the process of accepting your diagnosis and the psychological effects that can have.