We Can Adjust The Sails

It took eight years for me to get a diagnosis.  Eight years of wondering and worrying, speculating and self-diagnosing.  From my early twenties, to my dramatic collapse at 32, I knew there was something medically wrong.  I had started to walk slower, swim slower, run slower than my peers.  Despite moving at half their speed, I’d huff and puff, then stagger and stop to catch my breath.  I exercised more, I exercised for longer, I exercised harder, I exercised faster.  But instead I got worse.  GPs dismissed my repeated concerns; blaming anxiety or ageing.  I would leave feeling guilty that I was to blame.  I was being lazy, not training enough, getting stressed.  I’d leave feeling guilty that I was wasting their time, a hypochondriac.  But deep inside a little voice supported me, agreeing with my worries.  And over the years as my health worsened, the little voice grew louder.  Until it was a shout.  I’d joke and laugh … “One day this’ll kill me, and then you’ll all find out I only had one lung!”.  How strangely prophetic, how close that came to being reality.  It’s a lonely world when you are the only one convinced something is wrong.  And confusing.  Believing the doctors, believing me, believing the doctors, believing me.  I’d reluctantly accept their authority, they had the medical knowledge; whilst the little voice inside screamed out against their words.  I had a pile of jigsaw pieces waiting to be pieced together, waiting to be solved.  But no one believed the jigsaw pieces existed.  Only me.My world got even lonelier when I collapsed in 2013.  Now the doctors accepted there was a problem, but didn’t know what.  I’d always assumed that doctors could solve everything.  It never occurred to me that they wouldn’t know what to do, what was wrong, how to help.  That was a terrifying reality check.  They could see my big pile of jigsaw pieces, but had no idea how to put them together.  For six months I battled to get a diagnosis.  Monthly doctors appointment would leave me in tears.  Tests, tests, tests, tests… agreeing to everything, hoping for an answer.  Prodding, poking, injecting, lying still, scanning.  Probe down the throat, walking on the stepper, touch your nose with your finger.  Being passed from one hospital department to the next, from one consultant to the next, as they’d fail to draw a conclusion from their area of expertise.  They’d look at my jigsaw pieces, move a few around, then give up.  There were glimmers of hope and relief when suggestions of diagnosis’ were made- Chronic Fatigue Syndrome, Hole in the Heart.  And then there were disappointments when they were ruled out.  For six months I hoped and prayed and wished and put my faith in the only people who could help me.  I felt helpless, desperate, unimportant.  My life was on stand still and in shatters, but I was a tiny speck of dust in the great hall of the NHS.  The doctors couldn’t spend hours thinking about me, they couldn’t fit my tests in more quickly.  With millions of others like me needing help, one tiny speck of dust is insignificant.  Having no diagnosis is a difficult world.  It’s lonely.  It’s frustrating.  It’s scary.  It’s maddening.  Questions would circle my head, but no answers would come.  Why has this happened?  What did I do wrong?  Will I improve?  Will I get worse?  Am I the only one?  It’s psychologically very difficult, very draining, very traumatic.

So when they eventually concluded that it was PH, I was relieved.  With a name, we could start to put together my puzzle.  I told my cardiologist that I was relieved to get a diagnosis… only for him to stop me short, saying I shouldn’t be relieved by THIS diagnosis.  But I was.  And I still am.  I feel lucky I was only actively searching for answers for six months.  Some people search for years, some people never solve their puzzle.  My consultant disagrees, but I think even bad news is better than not knowing.

Slowly over the last four years, more pieces of my jigsaw have been slotted together.  My diagnosis of ‘Idiopathic Pulmonary Arterial Hypertension’, answered many questions, but also created more.  ‘Idiopathic’ means unknown cause.  The doctors were baffled as to why I’d developed the condition.  So more questions, more unknowns, more wondering.  Phil and I would joke that my PH did indeed have a cause… we just didn’t know it yet!  Later when I didn’t respond as positively to the PH medication, or make as much improvement as they’d expected, it left more questions.  Were they missing something?  Was something else wrong with me?  Cue more worry and the return of my niggling voice inside.  For three years, my jigsaw remained incomplete.Only when my health nosedived in 2016 did I get more answers to my puzzle.  I was diagnosed with an even rarer lung condition: Pulmonary Venous Occlusive Disease.  Here was the reason I’d developed PH.  This was my cause.  I was no longer classed as idiopathic, or cause unknown: instead my PH was induced by PVOD.  The PVOD came first, and caused the PH to develop.  The worst news, the worst outcome, the worst diagnosis… but it brought relief.  No more wondering and worrying.  Knowing allowed me to move forward.  Slowly the jigsaw pieces were slotting together.

We now have another clue, more information, a further jigsaw piece to add to my puzzle.  A year after my diagnosis of PVOD, I know why I developed it.  Genetics.  In my DNA I have a gene which causes it.  Over the last four years, I have donated blood samples for research projects investigating the disease.  One study analysing my DNA, found I have a gene mutation attributed to PVOD.  Last week I had a really interesting appointment with the geneticist at my local hospital, who explained my results.  Amazingly they know which specific gene was affected, and exactly how it differs to everyone else.  Fascinating!  Another answer brings further relief, further excitement that my puzzle is being completed.  However more questions are now created.  How did I get this faulty gene?  Why did I only develop symptoms in my 20s?  Did I inherit the gene from my parents, or did it randomly mutate at creation?  Further light will be shone when my parents have their blood and DNA tested to see if they’re carriers of the PVOD gene.  Hopefully soon I will have one of the final jigsaw pieces to add to the puzzle.  Many years have passed since I first sat in my GPs surgery talking about my inability to walk very fast.  Many years, many events, many tests, many doctors, many ideas.  Many years have passed, but slowly my jigsaw is being completed, my questions are being answered.  With each piece of extra information, I feel relief, a weight off my shoulders.  Because whatever the diagnosis, whatever the cause, whatever the consequences, whatever the future… I think knowing is better than not.  I’ll be forever thankful to the lovely consultant who diagnosed me three years ago, but he was wrong to judge my relief and happiness.  Until you’ve walked in the shoes of someone searching for answers, you’ll never understand how wonderful and relieving it is to solve the puzzle.