My name is Dorne.  I am 62 years of age and have been married to Richard for 44 years.  We have two sons and one daughter and last year our first grandchild, a little girl, was born.  We are both semi-retired we love our holidays and love to spend our summer months in our caravan touring in and around the UK.  We love live music and going to many shows.

In October of 2011 I felt a small lump behind my right ear.  I mentioned this at a visit to the dentist. I was told to see my GP who referred me to ENT.

My appointment came through very quickly, I was seen at ENT three weeks later.  An endoscope was used to look at my throat where my tonsil was enlarged on the right side.  An MRI scan was ordered along with a twenty-four-hour urine test and a CT scan with fine needle aspiration.

I was called back to the hospital in the first week of December when I was told that I had a carotid body paraganglioma.

I was advised to have surgery to remove my 6cm tumour as soon as possible to prevent further growth and further problems.  My ENT surgeon had come across a paraganglioma patient before so he was quite confident in removing it.  He arranged for a vascular surgeon to be present for my operation which took place in February 2012.

After the paraganglioma was removed it was a relief to know it was out.  Now I said to myself, ‘onwards and upwards to the next step’.  My swallowing was difficult at first as my tongue was curved to the side.  I had to puree my food but it wasn’t long before I could swallow normally and my tongue straightened out.  My speech was affected the most due to a paralysed vocal cord.  I also developed a condition called GERD (Gastroesophageal Reflux Disease) due to my vagus nerve damage.  I was left with Horner’s syndrome* too.  I had lots of speech therapy which was very helpful.  I developed a cough which I still have slightly due to acid reflux and nerve damage at the side of my face although I take medication to ease this. Three years after surgery I was diagnosed with an underactive thyroid.

The worst part for me after diagnosis and treatment was, I didn’t know of this condition and didn’t know anyone who had had it or come across it only my doctors, they did tell me it could be hereditary and to check my children regularly and keep an eye on them, I asked for genetic testing for my family but it was something they could not offer me at the time.

I was searching the internet for information but there was nothing out there at all.  I felt very alone and isolated but my family was my saviour.  I carried on for them, but I worried that my children could be next.

In 2017, five years after my operation, I came across the charity AMEND on the internet. They were having an annual patient information day in Manchester, so I got in touch with Jo Grey and booked two tickets for me and my husband.  At last, a light at the end of the tunnel.  This day I will never forget: we went along and listened to the professionals who AMEND had arranged to give talks on our different syndromes.  Jo put me in touch with a genetic nurse who had come along on the day.  She advised I talk to my GP and get a referral to an endocrinologist near to where I live, as well as genetic testing for me and my family.  When we did this, it led to me and one of my children being diagnosed with the SDHC syndrome and we now receive MRI follow up screening appointments.

Eight years on and it has been a journey.  I feel very lucky to have the support of great teaching hospitals in my area where I live, the AMEND charity for being there for me, and the people I have met along the way who are also like me.

*Horner’s Syndrome: a rare condition characterized by constriction of the pupil, drooping of the upper eyelid, and an absence of sweating of the face.  It is caused by damage to the sympathetic nerves of the face.

I’m Ashleigh, turning 30 this year (gulp) and currently working in the communications department of a lovely charity in Rochford, Essex. In my spare time I love to write poetry or paint watercolours, among other things – all of which usually involve sitting on my bum.

How were you diagnosed and how long did it take?

The year was 2017 and I was 26 years old. I was diagnosed backwards, and by that I mean that I only started suffering the typical high blood-pressure symptoms after my surgery. I was lounging on my right side one day when I thought to myself, “That feels a bit weird. It’s like my organs haven’t got any room for movement.” That’s exactly what it was like – as if too many squishy bits had been stuffed into my body. Moving felt very strange. I booked an appointment with my doctor and told him I was experiencing discomfort in my side, but no other symptoms. Being somebody with an underactive thyroid, I was used to feeling tired, being pale, and struggling with my weight; none of these were new to me.

Thankfully he booked me an ultrasound to take images of my kidneys. I received a scary call at work to say they’d found a ‘shadow’ and would like to do an MRI. After a week or two they told me they’d found something they’d like to discuss: I had a tumour on my right-hand side, attached to my kidney and liver. At the appointment they told me it wasn’t cancer (thank you God) but it was rather large: 20cm. I was chilled by the news but experienced a sort of quasi-resignation-denial about it too. How big is 20cm anyway? That’s nothing, surely – and anyway, I get all the bad luck. Typical.

At the age of 26, I was living a bit of a whirlwind lifestyle with poor mental health. Things had been going so horribly with some rotten people in my life that being diagnosed with a tumour didn’t even seem remarkable at the time, but rather inevitable. Everything was already rubbish – what’s a tumour on top of that? However, I soon realised that I was facing something big, and there’s nothing like a big tumour to make you realise: “Okay, I need to focus on my health now.”

So it was out with the awful people in my life and back home to mum and dad so I could recover safely from my surgery.

What treatment have you had and how did it affect you then and now?

Initially, they had no idea what this tumour could be. They assumed it was a hepatic adenoma, which is a tumour which can grow after years on the contraceptive pill. Given I was put on that very pill at the age of 12 due to heavy periods, this seemed plausible. I was booked for surgery at a London hospital with principally a liver surgeon. The plan was to operate laparoscopically and remove over half my liver. I had a lovely anaesthetist and I was feeling confident.

When I woke up, I found that my initial 4-hour surgery had actually taken 8 hours, and they’d had to perform open surgery because the tumour was just too large. My liver was left intact because in fact the tumour originated from my right adrenal gland, which had been completely dwarfed and swallowed by the tumour. While I was barely coming-to, my anaesthetist was excitedly telling me about the sheer size of the tumour; he sandwiched two sick bowls together and said, “It was like that!”

During my recovery in hospital, I received wonderful treatment by their nursing teams and couldn’t have felt safer. I spent a few days in the HDU and then the rest on the general ward. I was in pain and swollen but I thought the hardest part was over.  Unfortunately, it wasn’t over and I would not be swiftly moving on. The surgeon told me they simply didn’t know what the tumour was after all; it was not what they initially suspected it to be. After two weeks at home, he called and told me they’d discovered it was something called a Phaeochromocytoma.

By the time my first endocrine appointment came, I’d developed very high blood pressure (200 over 140 had become normal) and my heart was racing. I was having sweats and night terrors – all typical behaviours for people with a phaeo before surgery, and yet mine had already been taken out. I’d had visits to my local A&E where the endocrine doctors suspected I had another one, or perhaps a brain tumour – but the scans pulled up nothing.

Since then, I’ve been working with the endocrine team to try and manage my blood pressure. They believe the severity of damage to my kidney caused the high blood pressure, and after two angiograms and a failed embolization, I’m now due for more surgery to take the damaged kidney out.

How has all this affected your family?

Genetic testing was performed on all of my immediate family – me, my mum, dad, and brother – and we found that my brother and I have inherited the SDH-B gene mutation from my mum. Scan-xiety ensued when we awaited results for my mum and brother, but thankfully they were both clear of tumours. We now all go for regular screenings, and my wider family had to be tested too – luckily, my mum is the only one of her siblings to inherit the disease. The whole family was affected, not just by anxiety but by guilt too. My aunts and uncles felt dreadful for not having it, while my mum felt guilty for having it and not knowing. It’s a funny old thing.

What lessons have you learnt along the way (if any)?

This whole process changed my life. For once I had to stop constantly looking for distractions or ways out in life and I had to actually focus on me. It got worse before it got better, but if I learned anything it’s that I have to look after myself and be my own best friend. I’d always been somebody who reacts with their emotions instead of thinking with their head, and it was getting destructive. I’ve had to learn to behave myself and take my health seriously. This did not happen instantly, but I have grown enormously since my diagnosis and I like to think even the worst parts of my life were necessary for my personal growth. Aside from that, I’ve learned just how lucky we are to have the NHS and the professionals within it at our disposal – they are saints to me, the lot of them. We’re a blessed country with resources and expertise that they only dream of in other parts of the world.
I’ve also learned how vital my family are to me and how precious life is. There’s an obvious link between your mental and physical health, and I’ve learned the hard way to nurture both – you neglect one at the cost of the other.

Who’s been your hero?  Perhaps it was you!

My heroes are my mum and dad for looking after me post-surgery and beyond, my surgeons and anaesthetist, the angel nurses at the hospital where I had my surgery, my endocrine team, and all the researchers who are developing the knowledge surrounding these gene mutations. My own tumour features in a good few papers now and I’m proud to have helped further medical science! I’d also like to mention the PHD students/doctors who wanted to meet me before sampling my tumour for research – thanks for making me feel like a sort of weird celebrity, if only for 10 seconds.

Was AMEND (PPSUK) helpful during your journey?

Yes, in many ways. AMEND was recommended to me by my endocrinologist and I find myself popping back and forth to the website for bits of information. Much of it was baffling to me when I first read it, and it’s only now, a few years later when things have settled down, that I feel I can get a proper perspective on all of this. AMEND helps me to see myself within the framework of all the other endocrine neoplasia disorders where before I felt isolated and completely in the dark. Now I know I’m not on my own, and the fantastic literature and resources remind me of the facts when I need reassurance.

How are you now?

Better than ever actually! My life finally calmed down and, especially over the last two years, I’ve been focusing on my career and the things I love, taking absolutely nothing for granted. I feel secure and in control of my life. I bought a house with my long-term partner and I’m two years into a job I love. I’m exercising more and making concrete plans for my future. I’m now vigilant in taking my medications where I was lazy before. I’m actually looking forward to surgery and getting my health back on track.