Thank you to everyone who has shared their story with us. We know from experience that newly diagnosed patients find it very helpful to see how others were diagnosed and treated, as well as how they are living with their disease years later. If you want to share your story too, please scroll down and download a template (if required) and send your story to Jo Grey.
Joanne - Sporadic Phaeochromocytoma
On Friday 25 August 2017 I collapsed during a HIIT class at my gym. I was struck with excruciating pain in my head and the back of my neck. My heart felt like it was trying to pound its way out of my chest, and it was very frightening. Within about 20 minutes the symptoms had calmed down and I was able to get home where I felt totally wiped out for 24 hours. With hindsight I should have gone to hospital, but over a couple of days I returned to normal – until Sunday morning. I got out of bed, got dressed and went to go downstairs. On the stairs my legs started to feel weak and my heart felt like it was pounding. I Felt generally strange and went into the kitchen where my head started banging hugely (worse than on the previous Friday). This time we called an ambulance and I was admitted to Cheltenham Hospital. Investigations were conducted, focusing on my head, but everything, including brain scans, failed to identify the cause.
Over the next few weeks and months I had similar symptoms, but not always as severe. I saw the GP several times in respect of this, culminating in a neurology appointment at Gloucester Royal Infirmary in April 2018 and an MRI scan in May 2018 at Cheltenham Hospital – all clear! The eventual suggestion was that I was suffering from ‘cluster headaches’ or migraines, and so having been persuaded that there was nothing life threateningly wrong, I tried to get on with life.
Numerous appointments with doctors over the following months variously suggested migraines, vertigo, anxiety, and yet the ‘Episodes’ (this is what Mark and I started calling the attacks) continued to varying degrees of severity, on average about twice a month. I could almost always feel them starting to happen, and so on some occasions I was able to calm myself and control the episodes, but on other occasions it was like being completely pole-axed, and the remainder of the day was written off with me having to go to bed to try and sleep it off.
At the end of December 2018 we retired from work and headed off on ‘The Trip’ – our journey of a lifetime to New Zealand, Australia and Fiji. We had the most amazing time, but I can’t pretend that it wasn’t overshadowed slightly by the fear and apprehension of suffering further ‘Episodes’. There were a few whilst we travelled, and so I resolved that on our return to the UK we had to get to the bottom of what was happening to me, as it was really affecting my quality of life.
After multiple visits to the GPs at Portishead Medical Group – who were all absolutely fantastic – I was referred to a cardiology specialist at Bristol Royal Infirmary (BRI). Investigations here included heart monitoring and exercise tolerance tests on a treadmill. I was referred to have an implanted long term heart monitor fitted to investigate the palpitations and a slightly irregular heart rhythm had been detected by an ECG. Whilst waiting for this appointment I went for a further heart and chest scan, and it was this that detected a tumour on my right adrenal gland!
I was referred to an Endocrinology Team and I was told that they believed I had a rare tumour on the adrenal gland called a Phaeochromocytoma. This was confirmed by a 24 hour urine test and an MIBG scan, which apparently showed the tumour ‘shining bright’ (the consultant’s words – not mine!).,
Looking back over the last few years now it all falls into place, as I suffered from all of the above symptoms to a greater or lesser degree! Surgery to remove the affected adrenal gland cures most non benign or early stage malignant phaeochromocytomas. However it is a specialised operation which is managed by a multidisciplinary team with a surgeon and anaesthetist who are very experienced in dealing with such issues. This is because the anaesthetic and surgery can make the tumour release large amounts of adrenaline and noradrenaline. This causes very high blood pressure and can lead to serious problems and so for 10 weeks before the operation I was taking Alpha Blockers to control blood pressure to ensure I was safe to undergo surgery.
On 25 February 2020 I was admitted to hospital for the tumour and right adrenal gland to be removed. Thankfully everything went very well. After three days in the Intensive Care Unit, and feeling, post operation, like I had been kicked by a horse, I was able to go home to recover. I am now one week on, and feeling a bit better every day. Thankfully my remaining adrenal gland ‘woke up’ after a day or so in hospital and is working well enough to avoid life long medication, which is a big relief! Once I am over the actual surgery I should be ‘cured’ and the distress and symptoms of the past few years will hopefully be consigned to history. So now I’m looking forward to recovering my fitness and travelling in the new van as soon as it is ready!!
Carol - Sporadic Phaeochromocytoma
For years I experienced palpitations, night sweats and a pale face. I put it down to too much caffeine and sweats possibly the start of early menopause. (I was in my early 40’s) In 2015 I went to see my GP as I would have episodes of my heart racing, the feeling of my head going to explode and breathlessness that often resulted in vomiting. I was told it was panic attacks. As a result I was diagnosed with anxiety and depression, given anti-depressants and sent for counselling. At the end of 2016 nothing was working, my symptoms worse and I was signed of sick for 2 months with depression.
After I finished a counselling session where I ended up counselling my counsellor, I decided I needed to just try and get on with it and get back to work despite my symptoms worsening and the ‘panic attacks’ triggered with any kind of physical exertion and strangely laying flat on my back!
Spring 2017, I came down with a bad sickness and diarrhoea bug after working in the slums in Romania and ended up taking a month to recover. It was also discovered I had ridiculously high blood pressure and was pre diabetic.
My ‘panic attacks’ were now daily occurrences and more debilitating than ever with countless episodes in any one day. But my stubbornness made me battle on. I felt so Ill but even the doctor’s at work (I work in pharmacy for a GP surgery) insisted it was stress related! A couple of months later, I was now a full-blown diabetic!! I’ve always been fit and healthy and never overweight so was very upset about this!
In August 2017 I could no longer get out of bed without a ‘panic attack’ and knew something was seriously wrong. I begged my doctors and work colleagues as I knew something was wrong but to no avail.
Then on August 26th 2017, age 45, my body could take no more. I got up, had the usual ‘panic attack’ followed by vomiting. The last thing I remember is my hubbie taking away the sick bowl to clean. The next thing I know I’m laid on our living room floor with a room full of paramedics telling me I’d had a seizure. My blood pressure was off the scale and my sugar levels dangerously high.
What followed was an MRI head scan, which was clear, more blood pressure tablets and a referral to neurology. After 4 days in hospital and still no answers they attempted to send me home. I got halfway down the ward when I collapsed again. They explained to my worried girls who were taking me home that it would just be my blood pressure being a little low as I’d been in bed for a few days.
But I’m sure you’ve guessed right by now that actually it was dangerously high again and I didn’t get to go home.
What followed was talk of a rare condition (they didn’t say what) and wanted to do a 24hr urine collection. They sent me for an ultrasound on my kidneys the next day and that is when they accidentally found a 7.8cm mass on my right adrenal gland. The urine collection confirmed the diagnosis: phaeochromocytoma. One of the levels on the urine sample shouldn’t be higher than 500. Mine was 25,000!!
What followed was lots of new medication to stabilise and alpha block me and 4 weeks later I had surgery. My surgeon managed the surgery keyhole despite it being a large tumour, which actually measured 13.5cm by 9cm once removed!
I stayed in ICU for three days as my remaining adrenal gland took a while to wake up and begin to work after years of being dormant.
4 months after surgery I returned to work on a phased return and began Couch to 5k. I was no longer diabetic, BP normal, if a little low, on no medication at all and ran my first park run in June 2018.
I was sent for genetic testing. I thank God that the results showed I DID NOT have the type I could pass on to my precious girls.
I also returned to Romania leading an amazing team with my hubbie in October 2018.
To date, I ran my first 10km race in June 2019 and this year completed my 50th Park Run. It’s been quite a journey!
I am currently under cardiology to make sure my heart is healthy after a few worrying symptoms and awaiting a 7 day heart monitor, as well as my annual checks with my amazing endocrinologist.
But I’m not letting this beat me! I’m an overcomer and am so grateful for how far I’ve come. I firmly believe that I haven’t got this far to go backwards.
Onwards and upwards!
[This story was previously featured by the Pheo Para Alliance]
Natalie - Sporadic Phaeochromocytoma
I am 48years old, married and have a son. I love knitting baby clothes, keeping fit, baking and reading crime thrillers.
How were you diagnosed and how long did it take?
In 2015, I started having palpitations which increased steadily over the year. I raised this with my GP and he checked my blood pressure. To our surprise (as my BP was always low) my blood pressure was quite high. Initially my GP thought I could be suffering from ‘white coat syndrome’ where a person only exhibits a higher than normal blood pressure in a clinical setting. On his advice, I purchased my own BP machine and began emailing my results to the surgery.
My BP kept increasing so I added more gym classes to my weekly routine but instead of feeling invigorated afterwards I felt worse. I decreased the amount of salt I ate but did not see any improvements. I was not overweight so could not understand why my blood pressure kept going higher and higher. My life was not particularly stressful, so it was a real conundrum. Finally, my GP insisted that I needed to take medication to lower my blood pressure as the stress on my kidneys and eyes would eventually cause long term damage.
By the end of 2015, I was taking 10mg of amlodipine and 10mg of propranolol each day for hypertension, but my blood pressure was still increasing and uncontrolled. In addition to the palpitations and high blood pressure, I now suffered with tremors, shortness of breath, sweating and headaches. I also felt this constant dread, that something awful was going to happen.
Despite taking a variety of beta blockers religiously each morning, in June 2017, I had a Transient Ischaemic Attack (mini-stroke) and was referred to the Stroke unit. My consultant Dr Durkin (one of my heroes) was amazing. I knew that there was something wrong with me and Dr Durkin listened and believed me! I was overwhelmed with relief. Despite having to remain in bed and being unable to do much for fear of another stroke, I believed that things would get better. Together we started a journey of investigation. Initially, I had numerous tests which confirmed that my heart was functioning properly. The next step was to check that my kidneys were functioning properly. In October 2017 I had an MRI scan. A phaeochromocytoma (neuroendocrine tumour) was discovered. It was approximately 4-5cm in size and had completely obscured my left adrenal gland. Additional tests were ordered by the endocrinology team: 24-hour urine test, blood tests and MIBG imaging.
I was relieved to finally have a diagnosis, however this relief very quickly led to concerns about whether my tumour was related to an inherited disorder which meant that my son could also be at risk of developing a phaeochromocytoma. Fortunately, blood tests confirmed that it was a sporadic tumour and not a genetic mutation.
What treatment have you had and how did it affect you then and now?
Prior to my diagnosis of a phaeochromocytoma, I had been taking various beta blockers and statins (amlodipine, propranolol and atorvastatin) however, after my diagnosis I was prescribed an alpha blocker called phenoxybenzamine.
I was referred to the Endocrinology teams at Stoke Mandeville and Churchill Hospital. My surgeon Mr Sadler (my second hero) progressively increased the dose of phenoxybenzamine to lower the secretion of adrenaline.
For many months, I felt sick and the headaches, palpitations, tremors and sweats intensified despite my dose of phenoxybenzamine steadily increasing to 32 tablets per day. I was admitted onto the GI ward at Churchill Hospital on the 2nd July 2018 where they increased my phenoxybenzamine even further. The aim was to lower my blood pressure to such an extent that I would be unable to stand without support. I think that my body had become so accustomed to this drug that I was able to continue walking to the garden at the end of the ward without feeling lightheaded. On the 5th July 2018, I had an adrenalectomy. The phaeochromocytoma was 6cm. Throughout the operation, I had labile hypertension, where my blood pressure would increase to dangerous stroke levels and then drop drastically to the point where my heart would barely register a beat, so all credit goes to my anaesthetist Dr Hilary Bridge (my third hero) who managed to control my erratic blood pressure.
I was referred to AMEND by Mike Tadman my advanced nurse practitioner (my fourth hero) who has shown incredible patience and understanding throughout this ordeal.
After the operation, my blood pressure immediately returned to a normal level, however, some symptoms persisted (headaches, sweats and less frequently palpitations) which I had not expected and so I felt quite low at times. For histology to confirm whether a tumour is malignant or benign they use the Phaeochromocytoma of the Adrenal gland Scaled Score (PASS). A score of 4 or more out of 20 is used to identify tumours with the potential to behave aggressively. My score was 8 out of 20.
For approximately 1 year, I had 3 monthly appointments with the endocrinology team at Stoke Mandeville hospital and the Churchill Hospital, thus enabling these teams to gather as much data as possible about this rare condition. At the end of 2019, I was discharged from Stoke Mandeville Endocrinology but will remain under the care of the Churchill Hospital for the rest of my life.
Kym Winter from AMEND (my fifth hero) has been a real source of strength and support throughout this ordeal by providing telephone counselling which was invaluable. Her calm demeanour and soothing voice were reassuring.
It is 2020 and I am pleased to say that I am not taking any medication. It has been a long and arduous journey. The fantastic care that I received from all the staff at the NHS and the love and support from my family and friends is why I am able to tell my story.
How has all this affected your family?
It was extremely hard for my husband and son (my absolute heroes) but throughout this ordeal their positive outlook kept me strong. My son completed his Duke of Edinburgh award, supporting other young carers and volunteering at a Residential Care Home.
What lessons have you learnt along the way (if any)?
The biggest lessons that I have learnt –
- Trust your instincts, no one knows your body as well as you do. If you feel that things are not right, do not keep quiet. Speak to your doctor.
- “Worrying does not take away tomorrow’s troubles, it just takes away today’s peace”. There is not a lot of information about phaeochromocytoma as they are rare. You can literally scare yourself searching the internet, so I would recommend AMEND who provide accurate, balanced information and have published numerous guides on multiple endocrine neoplasia disorders.
- The value in spending time with family and friends can never be underestimated. No one on their deathbed wishes that they spent more time at the office. I worked tirelessly for a Local Authority for over 14 years and was made redundant whilst going through this ordeal in 2019. I have learnt the importance of working for organisations that: –
- live their values and genuinely care about their employees
- desire to enhance the quality of life for their clients by strengthening their communities
- strive to eliminate barriers to opportunities.
Who’s been your hero? Perhaps it was you!
My heroes are my husband, son and the consultants and nurses that took such great care of me at Churchill and Stoke Mandeville Hospital. The words ‘thank you’ are just not sufficient in expressing my deep gratitude for each and every one of them.
Was AMEND helpful during your journey?
AMEND were extremely helpful and informative. I cannot thank them enough. Unfortunately, I missed the AMEND Annual Patient Information Day in May 2019 because I was back at the Churchill Hospital having my gallbladder removed. Due to COVID-19, the 2020 Annual Information Day was streamed on Facebook and YouTube. I attended a regional peer support meeting via Zoom for the very 1st time in September 2020, where I met some amazing and inspiring ladies who have been diagnosed with various neuroendocrine tumours. Talking and listening to these ladies was such an uplifting experience. I would whole heartedly recommend this support to anyone who has had a diagnosis.
How are you now?
I am well and appreciate the small things so much more now.
Emma - Metastatic Phaeochromocytoma
My journey started in 2010, this is the year my life changed this is the year I first heard the word phaeochromocytoma.
My phaeo was found in 2010 purely by accident I had been studying at collage and had severe pain in my neck. I went to the hospital where they found my blood pressure was extremely high. For the next two weeks I was in and out of hospital and seeing my doctor who was frantically researching for any conditions that could cause it when he stumbled across phaeochromocytoma. He ran a 24-hour urine test that came back with high noradrenaline. Nether my doctor or the lab could believe I was fully functioning with these levels. I was then referred to an endocrine doctor my blood pressure systolic number was always in the 200s and the diastolic in the 100s. I was becoming more and more unwell. A CT scan confirmed a tumour on my right adrenal gland so I was started on an alpha-blocker and booked for laparoscopic adrenalectomy. It took a year to get from the first hospital admission to surgery.
After surgery at my post-op appointment I was told that they had removed it all and was fine now. I asked if I needed any follow-ups and they told me ‘no – it was that rare it would no way happen again’. Boy were they wrong, and I wish I had not put my trust in them, but they were the experts and we all believe they know what they are doing. I wish I had extended my knowledge on the subject and learnt that it is actually extremely important to have yearly testing.
For years after that I struggled with anxiety this started to become more and more intense I had moved areas so had new doctors and was told time and time again that I had treatment resistant anxiety. Phaeo did not even cross my mind as it had been a long time ago and I presumed it wouldn’t happen again. Then in 2017 things started to become a lot worse I would have these strange episodes which I didn’t have with my first phaeo. I would go extremely hot, my face would flush, blood pressure and heart rate would rise, I would feel or be sick, my vision sometimes went funny and I would feel dizzy, severe migraines even shaking. I have probably missed a lot out but you get the idea. I went to see a different doctor expecting the usual ‘it’s high anxiety; you’re having panic attacks’, but this time she listened. She then looked through my history and spotted my previous phaeo and asked when I was last tested. That’s when I realised that I should have been tested yearly. The further along I got with testing the more I started to realise how many mistakes had been made with my previous treatment.
I was referred to endocrinology and asked to complete 24 hour urine test which I did, but my appointment with the endo came before I had received any results. I told my husband to stay in the waiting room with our son and that I would be ok – it was just a chat and I would be fine. When I went in the endocrinologist said to me, ‘so we have phaeo again – let’s find it’. I felt like my whole world had been pulled out from underneath me and cried. My husband and I were not expecting that blow. I had a CT scan that showed recurrence on the right side – the same side as the previous one. I then had an MIBG nuclear medicine scan which lit up. I was scheduled for open surgery which I had in February, 2019.
Open surgery is pretty rough but I was glad that it was going to be sorted and I would feel better. After my surgery I could not shake the feeling that something was still not right. I knew I wasn’t fixed and my bloodwork 6 weeks later confirmed that my levels were still high, and I was also highly symptomatic. This led to more CT and MIBG scans and the same area was lighting up. They decided that the best option was more surgery, but more drastic surgery to clear the area completely. They were going to remove my kidney – I was terrified.
The second open surgery was completed in January 2020. My kidney and lymph nodes were removed along with part of my liver due to it being stuck to my kidney. The surgeon noticed a small tumour on my abdominal wall when he went in, so he removed that as well. After surgery I had that dreaded feeling again that something was still not right and that I was not very well at all. I remember arguing with an endocrinologist while in hospital 3 days after my surgery. She was telling me I was fixed and I told her she needed to run tests as there is still something very wrong with my endocrine system. She wouldn’t listen to me. I then started to be sick and began collapsing at which point a doctor finally realised what was going on. They had forgotten to check my cortisol levels and I was going into adrenal crises. This prompted the need for steroids to replace my cortisol.
After that surgery I knew things were still not right as I was still highly symptomatic but had to wait until my tests were completed these come back high. I was devastated that, after going through two major open surgeries in a year and losing a kidney, I was still not fixed. Pathology had found tumour inside and outside of my kidney and on my abdomen. There was a tumour and tumour cells in the part of the liver they removed, all of which tested positive for phaeochromocytoma.
After this I was diagnosed metastatic phaeo and adrenal insufficiency. It’s very hard to manage both these conditions at the same time. I also have mobility issues due to the surgery and I am very symptomatic with poor quality of life. I am currently waiting for an FDG-PET 68Gallium DOTATATE scan and an octreotide scan. They have told me they cannot cure me, which is hard to take in. Every scan and every hospital visit brings dread and anxiety to me because I feel traumatised by what I have been through and what I am still going through.
I wish there was more awareness of phaeo and I wish people understood that these tumours are not simple tumours – they do so much more. Phaeo comes in to your life like a tornado ripping everything up in its path leaving a trail of destruction behind it. Phaeo is not just a tumour – it affects every part of your life physically and mentally and it doesn’t care what it does to you. Phaeo also affects more than just you – it also has a massive impact on your family who have to watch you go through it all. And the biggest heartbreak of all is having to tell your kids each time that ‘I will be better after my op’, and then the reality is that I have to break their hearts all over again and tell them ‘mummy isn’t fixed’ and now, ‘mummy can’t be fixed’.
If I could make one difference in the world, it would be to create more awareness of these tumours and to get doctors to understand and think to look for them. Just because we are rare doesn’t mean we don’t exist. But I am just one person – I can’t make that much of a difference to the doctors. I am just a case file, someone with a rare condition. To my family, I am a person, I am a mum, I am a wife, I am a daughter, I am sister, I am an aunty, a cousin, a niece, a granddaughter, and soon to be a nan. I am very much loved and I want to live, so I will continue to fight this horrible disease as much as I can. The most important part in these journeys is to remember that you are still you underneath. Phaeo takes a great deal from you, but don’t let it take all that you love and who you are. Don’t let it win – keep fighting back!
Emma on a good day with no symptoms:
Emma on a bad day with symptoms:
Dorne - Hereditary PPGL Syndrome (SDHC)
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.
Ashleigh - Hereditary PPGL Syndrome (SDHB)
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.
Jo - Hereditary Phaeochromocytoma (MEN2A)
“Do you believe you can fly?” asked the community psychiatrist.
If I didn’t have my head over a bucket puking up the nothing I had eaten for weeks, I would have made HER fly – right out the window – for asking such a stupid question. Wearily I shook my head. Couldn’t she see that I was ILL?
It was the year 2000, and for weeks now I had been retching and vomiting, unable to keep even water down. I had been suffering episodes of severe ‘migraine attacks’, palpitations and breathlessness off and on for 4 years since the birth of my first child, but now they were ever present and significantly worse. My family doctor was insistent, despite my protests, that the attacks were due to postnatal depression and had prescribed a cocktail of drugs to no avail. It seemed the antidepressants and sleeping medications were making things worse and I was now desperate.
“Do you want to harm yourself?” the psychiatrist persisted.
A sensible question at last! All I could manage was to nod pathetically into my bucket. Suddenly, urgent phone calls were made: to my husband to check if I had private health insurance; to my family doctor; to a psychiatric hospital.
“They can take you tonight, it’s all arranged” she said. I could not have cared less anymore.
My husband, Alan and my mother, Janet, carried me almost unconscious into the psychiatric hospital. This quiet unassuming place was to be my saviour. After 4 years of pain, it was now a matter of days before they had diagnosed a large adrenal tumour (NOT post-natal depression). The tumour (a phaeochromocytoma) had been causing my blood pressure to reach immeasurable heights and had put me at serious risk of stroke and heart failure. In fact, the surgeon who finally removed it hadn’t seen anything quite like it for size and activity (probably because he doesn’t perform post-mortems).
Once again, things began to move fast. Within the space of the next few years I was genetically diagnosed with multiple endocrine neoplasia type 2a (MEN2a), along with my mother and my then 2 ½ year old son; I had both tumour-containing adrenal glands removed along with my cancerous thyroid, as did my mother; and my son had a prophylactic removal of his thyroid to avoid developing thyroid cancer.
I do relatively well now, on a cocktail of different drugs, and am regularly monitored for optimum doses and disease recurrence (which resulted in the replacement of one of my shoulders in 2007 due to a thyroid cancer bone metastasis). My son is closely monitored for signs of phaeochromocytomas.
As you might expect, primary healthcare is one area of concern for me for patients with rare diseases like MEN and Phaeo Para; particularly regarding diagnosis. The specialist UK NHS hospital team were fantastic throughout, confirming the need for rare diseases like MEN to be managed in an expert multidisciplinary setting.
I had so very nearly died and this would have left 2 very young children motherless. The thought of what could have happened still haunts me today.
[Jo is now the CEO of AMEND and Phaeo Para Support UK]
Jodie - Sporadic Phaeochromocytoma
Tell us about yourself?
My name is Jodie, I am 32 years old. I was 31 at the time of diagnosis. I am a qualified Accountant, working as a Head of Finance. I have a husband and 2 young children – 1 boy, 1 girl – who are my world. I enjoy walks in the great outdoors, eating out and spending time with my family.
How were you diagnosed and how long did it take?
When I was 39 weeks pregnant with my youngest (now 19months old), I started with extremely aggressive pounding headaches, so much so that I thought my brain was going to explode – it was so painful, I was screaming in agony. My husband called for an ambulance, they did a few checks and found that my blood pressure was excessively high and I was in hypertensive crisis. I had never had issues with blood pressure before, even the prior week at my midwife appointment my BP was 120/70 so very good and normal. But during the hypertensive crisis, it was probably double that if I remember it right. The doctors couldn’t understand as I didn’t have pre-eclampsia. Anyway, they induced me, I gave birth naturally, and both me and baby were fine.
Following on from the birth, I had to stay on blood pressure tablets to try to keep my BP down but every week I found myself back at the GP with high BP that was not coming down despite being on high doses of blood pressure medications. Week in week out, I would have to increase my dosage and add in new BP tablets. Then I started to have other symptoms too, so would be back at the doctors to discuss those – they put it down to side effects of the medication. BP was still not coming down so I was put on yet another BP medication. I was then on high doses of 4 different BP meds… and my BP was still around 150/100 while highly medicated on the 4 BP meds. Other symptoms were – tremors, headaches, fatigue, pre-diabetes, excessive thirst, flushing and sweating, digestion issues, constipation, nausea, abdominal pain, high heart rate, anxiety, heart palpitations, excessive thirst.
At around 10-11 months post birth, it got so bad that I was in agony, crippled over with abdominal pain – I knew something wasn’t right. I had known gallstones so thought it could be pancreatitis, so I went to the GP about that, then ended up in A&E over the weekend as the pain had got worse. I had severe hypokalaemia (low potassium) hypophosphatemia (low phosphate) and hyperglycaemia (high blood sugar), so they put me on drips and supplements to help with all of that. I was kept in hospital and while doing scans of my gallbladder and pancreas, they came across something else….. a tumour on my adrenal gland. And I had Cushing’s Syndrome caused by the tumour.
I was in hospital for quite a while, while I underwent lots of tests – blood tests, urine tests, MRI scans, CT scans, PET scans, salivary tests to name a few. I was under the care of a team at Preston Royal Infirmary (Preston, UK) and then was transferred to The Christie (Manchester, UK) where I was under the care of Dr Adam. I’d had dexamethasone suppression tests and apparently I did not respond well to them – my mum passed lots of information on to Dr Adam about this and how it affected me, and I believe this enabled him to get onto the right research path to find what exactly my tumour was. I had a pheochromocytoma, which is very rare… but even rarer, mine was an ACTH secreting pheochromocytoma. My cortisol and adrenaline levels were over 10 times higher than normal range.
So from my initial symptoms to diagnosis, it took around 11 months. But I think this was only due to my symptoms being so severe and my levels being so high. I was very lucky that my Endocrinology teams were able to diagnose and treat me so quickly, as I know some people wait several years for their diagnosis. I am very grateful to my Endocrinology specialists.
What treatment did you have and how was that?
I was kept in hospital for a total of 11 weeks from initial A&E admission. I was treated with lots of drips to keep my potassium, sodium and phosphates up. I was on a lot of medication to treat the high BP and pheo. During my time in hospital, my cortisol was so high that it caused psychosis, hallucinations and delusion… this was very strange and I do still get flashbacks of certain bits but thankfully don’t remember most of it.
The doctors worked really hard to get my BP low enough so that they could operate. There were lots of struggles, lots of tests, and lots of lonely days. Finally, after 2 months in hospital, I had surgery (open unilateral adrenalectomy). And I began to feel better immediately. I had 8 weeks of recovering from the surgery and I was on hydrocortisone to artificially increase my cortisol levels while my remaining adrenal gland started to “wake up” and begin to work again. Then after several months of reducing the dosage, I was able to come off the medication all together. Now, I am completely medication free and feeling more like myself again!
How did all of this affect your family?
My family has been through so much – watching me be so poorly, not knowing what was going to happen, and pushing through regardless. They were so strong!
It was a really scary time for us all. Thankfully, I don’t remember a lot of it. Being the breadwinner in the family, it put financial strain on us as I had to have time out of work. There was a lot of uncertainty and it was very hard for everyone in many different ways!
Now, we are very grateful that I have my health and we are all together again.
What lessons have you learnt along the way?
To trust myself, trust my body. To never give up and fight for what is right for yourself. To advocate for yourself.
I have also learnt that family is everything (more so than I already knew) and the small things in life are what really matter.
Who’s been your hero?
Myself – for everything I have been through, for bouncing back stronger than before!
My mum – for her support and help with my children, and for her input and care during my time in hospital. My story would be very different if not for her. And I simply can’t thank her enough for all the support she gave in so many ways.
My husband and children – for their bravery whilst I was in hospital and during my recovery. It must have been so scary for them and they were amazing throughout!
Dr Adam @ The Christie – for being the best Endocrinology specialist and doing everything possible to get my right diagnosis, ensuring I got the right care, and also being so supportive both during my time in hospital and thereafter.
How are you now?
I am feeling good! Much more like myself. I am working full time in a brilliant role, I am there to support my family and enjoy being with them, and I am extremely thankful!! Hoping to spread awareness and help others who have phaeo or similar, help them to see that there is light at the end of the tunnel!
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