Nigel’s story - Normal is as normal does

I had an idyllic childhood, born and brought up healthy and active on a farm in East Kent, blissfully oblivious to the fact that since birth, I had been carrying a mutation in my NF2 gene.

It manifested in minor ways in my adult life: a lump on my foot wrongly diagnosed as a ganglion; subcutaneous nodules on my calf; tightness in my hamstrings; a tendency to limp; a lump growing on my eyelid but any diagnosis of NF did not start until I visited a chiropodist to have a verruca removed, when I was 47 years old.

He noticed an unusual gait and asymmetrical callus formations on my feet so referred me to a GP who referred me onwards for a precautionary MRI because “something didn’t seem right”. At the MRI, I was too stressed by the claustrophobia of the scanner to wonder why it took twice the time expected and thought nothing of the result – “just precautionary” – until I was asked a few days later to call my doctor’s surgery URGENTLY.

After a detailed clinic, bamboozling me with degenerative L4/5 and L5/S1 discs; multiple soft tissue nodules related to the cauda equina between L1 and sacrum; lobulated soft tissue mass along the sciatic nerves; large mixed signal intensity destructive masses; bony erosion/ destruction; in fact, what sounded to me like so much destruction, that I wondered how my spine managed to keep me upright.

But all that destruction paled into insignificance when I fatefully reached for Google after reading the radiologist's final sentence, “Does this patient have any family history or previous diagnosis of neurofibromatosis?”

Of course, I’d never heard of NF so when I read of the devastating effect that this condition can have on sufferers and families, I came out in a cold sweat, took a lot of deep breaths and went out for a long shaky walk to clear my head.

 

I had reached 47 years of age living a normal life with a wife and three healthy children, so why should one MRI change my normal.

Normal, in my case, after that idyllic childhood meant an average academic career, teacher training college and a year of teaching before I was plucked out of teaching tedium in 1978 to win a place on the Operation Drake expedition and find myself sailing the Atlantic in a square-rigged sailing ship.

Despite pressure, from people who cared, for me to get a normal job, I had a naïve fantasy that being my own boss would bring me freedom from having bosses who didn’t see things my way.

After two years graft. this is what I achieved, so that over the next thirteen years, we grew to thirty employees, maintained data on over 100,000 petrol stations, using 200 surveyors in over twenty countries, with hundreds of customers achieving sales of £3,000,000 a year. Oh, and when Google Maps was launched at about the same time as that diagnosis of my NF, their petrol station locations were sourced from Catalist. 

Even my diagnosis was unclear, and I soon learned that there is no normal NF. The first real insights came from an excellent clinic with Ricky Nelson, a leading, now retired, Neurosurgeon from Frenchay Hospital, Bristol. He felt that despite my lack of abnormal freckling or café au lait patches, that I had sporadic mutation NF1.

A subsequent biopsy proved inconclusive, but my next diagnosis came as a surprise when I attended my first Neurofibromatosis Association (forerunner of NTUK) Annual Conference and bumped into a genial, middle-aged gentleman on one of his many excursions to a side room to check how Wales were performing in the Rugby World Cup Quarter Final (they lost!) that was taking place during the conference.

He enquired about my interest in the conference and when I told him I had NF1 he looked me up and down and said “I don’t think you do”. In further conversation he surmised that I had the newly discovered Schwannomatosis, and I discovered that I was talking to Prof Gareth Evans, a world leading specialist in NF2 and long term advisor to Nerve Tumours UK. He kindly agreed to become involved in my diagnosis if we could supply two separate samples of tumour. 

Over a few years of consultations, MRI’s, nerve conduction studies and multi-disciplinary team meetings all the evidence at that time pointed towards a diagnosis of Schwannomatosis.  Such is the fast-evolving world of genetics research that twelve years after the initial discovery of NF type fibromas in my nervous system, I was re-diagnosed.

My twenty-year diagnostic history morphing from NF1 to NF2 to Schwannomatosis to mosaic NF2, demonstrates the challenges presented to everyone involved in this rare condition.

I decided that the best way to manage this uncertainty was to ignore it and let my mind and body decide what I could do, supported by, but not controlled by, the medical advice. Whilst all this was going on I had far greater influences in my life, not least the sale of my business and an amicable divorce, so I launched my next adventure which was to see if I could be part of the burgeoning business opportunities in India. Setting up two businesses and a home in Mumbai, I experienced the sights, the smells, the poverty, the wealth, the frustration, the joy and most of all the overwhelming sense of living life to the full in this extraordinary and vibrant country.

My father reaching ninety years old became the catalyst for this next phase and in March 2017 I moved to Canterbury with no plan other than being near my father for as long as he lived, which in the end was another year. A year I will never regret and made me so grateful for not leaving my return to the UK a moment longer. I settled easily into Canterbury where my non-father time was split between the Golf Club and a part-time project working for the British Government developing trade with India that involved extensive travel across the UK and more trips back to India.

Being in Canterbury under the care of The Oxford and South West Neurofibromatosis 2 Service did not make logistical sense, so I was transferred to the London NF2 clinic based at Guy’s and St Thomas’ Hospital. This demonstrated more than anything how we as patients are at the mercy of the system.

In 2020 the pandemic impacted all our lives though my new normal in Canterbury changed more significantly two years earlier when my father died and later that year my project with the Government came to an end. Those events were the catalyst to write the novel I’d always promised myself and the one continuity in my life was golf. This was fortunate because we had no foreboding of how life would be in a pandemic but at least one of the first sports to be liberated from lockdown was golf, so in 2020 I met lots of people and spent lots of time in fresh air.

For so many people the pandemic was devastatingly life-changing, but I was one of the lucky ones for whom it was positively life-changing. All that time on the golf course meant not only was I appointed Senior Captain for 2022 but I also met Alison, a far better golfer than me, who became the reason I gave up my ‘bachelor pad’ in Canterbury and now live in a delightful village nearby the farm where I spent my idyllic childhood. 

In conclusion, I’d like to share my experience of the best day of my Senior Captaincy, when I was given the support of the Club to run a golf day in aid of my chosen charity, which needless to say, is Nerve Tumours UK. 

With planning coordinated by Alison, using her previous experience as Club Captain, we were able to put together one of the best days in the Seniors Calendar with eighty-four players, refreshments provided by volunteers, numerous donated raffle prizes, generous prizes for the top three teams and special prizes donated by Canterbury Cathedral on each of eighteen holes that ranged from Cathedral prints for playing the hole the best, to a rubber duck wearing a bishop’s mitre for playing a hole the worst.

The Nerve Tumours UK team were so supportive with banners, t-shirts and branding and we were delighted to welcome Trustee Richard Goode whose fascinating insights into the impacts of NF on the family and the important work of Nerve Tumours UK, was well received by the hundred attendees. We not only raised some additional funds for the cause but as importantly we raised awareness of this rare condition and I now have fellow players offering me (unfounded) excuses for why my golf balls don’t always go straight.

What my personal twenty years’ experience highlights more than anything, is that healthcare is inadequately equipped to handle multi-disciplinary conditions such as NF. I did get treatment across disciplines, either by fortuitous meetings such as with Professor Evans at an NF Association conference, or by excellent awareness and communication such as I experienced from Mr Nelson and the Oxford and South West Specialised Commissioning Team.