The Day of my Diagnosis at last!  - Mixed feelings and Big Ben!

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After a journey of nearly 7 years and numerous tests, specialists, consultants and alternative therapists scratching their heads, even being told it was psychological, my GP suspecting RP for 2 years and my push to see the ‘UK Specialist for RP’ ..finally, I had a diagnosis!  

 

There was a sort of disbelief at first - and I asked him to repeat what he had said.  For the first time, someone in a ‘white coat’ was prepared to state what they thought and was telling me that it was necessary to treat now before it got any worse and possibly too late.   Relief!  Finally, someone was taking me seriously, had listened to how debilitating my symptoms were and were prepared to take me on to get a treatment plan together!

 

I didn’t have many questions then, I'd researched enough beforehand to know that this was a rare and progressive auto-immune disorder.   This Specialist had the most patients in the UK under his supervision (35 then) and I had already connected with support groups on the internet.  Whilst not particularly the result I 'wanted', I felt that at least now I could improve my quality of life!   I listened to the ordering of scans, biopsies and blood tests.  We booked another appointment for 6 weeks time.  My local GP and Consultant were sent instructions as to the plan of action.   After shaking his hand, I walked to another building to have the basketful of tubes of blood to be taken and left the hospital..dazed!

 

I walked across Westminster Bridge, noticing that one of the London Eye cages was missing and then to the Houses of Parliament.  I don't think I'd ever stood in front of them before...it was coming up to 12 noon and I realised that Big Ben was about to boom!   Suddenly I got into tourist mode, rang my mum and made her listen to the familiar sound before telling her my news.    We didn't talk for long, the energy of London, the cars, the people and the noise was getting too much and I was shattered.

 

The questions began to arise on the journey on the Tube, to the car, back home - I had time to write these down and ask for clarification at a later date.

 

At 3am that night I woke and inevitably started to think about what was happening.  I cried.  The tears were so so hot, they burnt!   Whilst it was a relief to have a diagnosis and someone that was going to plan a course of treatment - there was mixed feelings in that.  I know there is no cure - the drugs given are likely to just stall the progression and hopefully improve my day to day living.  I already have another rare disorder - Protein S Deficiency which I have lived with for many years..how fair was it that I had two rare disorders now?

 

My tears were for the 'unfairness' I felt, the fear of what was to come, what they still might find from the tests, fear of how this will effect my loved ones, my friends and the sick feeling that I might not be able to do or have the things I yearn for in life.  I just looked up at the ceiling and let out a sigh!  

 

These were some of the words I wrote in my diary back in November 2011.

 

Within a few weeks, I had had dynamic CT scans and a bronchoscope which found that my trachea had narrowed dangerously.  I was immediately put on a cocktail of drugs including steroids, methotrexate and other supplements.  By Spring 2012 I had had surgery to widen my trachea.  

 

I went into hospital not knowing whether I was going to wake up with a stent or not.   The surgeon managed to do a laser and dilation to wide my trachea to about half the size of a ‘normal’ adult.  Within weeks I was breathing 90% better, the hoarseness had improved and slowly over the next few years, I became used to the medication side affects and living a relatively normal life, albeit with frequent visits to my local hospital for breathing tests and follow up visits to London to see the specialist team.  

 

Thankfully, I haven’t had to have a repeat dilation but it is likely that I will need to in the future.  I have other health issues alongside RP so unfortunately I am not able to work/hold down a job but I feel I live a full life.  I've adapted my life to accommodate all the daily symptoms and side affects of medications.  The breathlessness is still always there but comes and goes in its severity.  I still have a hoarse voice and sounding ‘sexy’ husky is really the only benefit! 

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Here's a 'Before' Picture taken just after diagnosis in 2011.  You can see it is very inflamed.   Early symptoms were progressively worsening breathlessness on exercise, a hoarse voice and constantly clearing my throat.  I had no outward signs which made it very difficult to diagnose.  In the summer of 2011, I suddenly had an episode of severe ear inflammation (my only one to date)..two lots of anti biotics hadn't worked to reduce the swelling and It was thought I had been bitten by something and about to be sent to another specialist in 'tropical' diseases.   However, that day my GP had been reading about a rare disorder in a journal and he thought my symptoms were similar.  We researched it and lo and behold, I had all the symptoms of RP.

 

 The picture on the right is one taken from just below my voice box last year.  less inflammation and you can see the cartilage rings in the trachea.  Its still narrower than the average adult but doesn't require further surgery yet.  

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