We are very grateful to everyone who has gifted us their My Story. The following stories give you a flavour of the variety of journeys with MEN1 that different people experience. In addition, scroll down for our three patient story films produced in 2021. We hope you find them interesting, useful and maybe even inspiring. Writing about your experiences of living with a rare disease can be cathartic. If you would like to write about your journey, please download our template and send it to Jo Grey at the AMEND HQ. Thank you
I was 3 years old when my father died, and back in 1981 his doctors didn’t know that the multiple tumours that kept cropping up around his body were caused by MEN1. It was 23 years later that my brother’s endocrinologist read over my father’s autopsy and suspected there might be a link and therefore sent one of my brother’s DNA to be genetically tested. After my brother was confirmed as having MEN1 the rest of us were tested, and after months of waiting for results my three older brothers and I were all confirmed to have it. Four out of four seemed unlucky and knowing that our father had died at the young age of 44 years, we all wondered what the future held.
Soon after this diagnosis, it was discovered that we all had high calcium levels with one or two parathyroids that were over-active and so the decision for surgery had to be made. After reading a lot of medical journals, overseas forums and especially the AMEND forum I saw a common theme of patients needing multiple surgeries to remove parathyroids. This led me to the decision to have all my parathyroids removed and one re-implanted in the arm right from the beginning to avoid having to repeat the same operation down the track. At this time, this type of surgery wasn’t commonplace in New Zealand (NZ) so I really had to campaign in order to convince my doctors this was the right path to take. At the grand old age of 25 this showed me how proactive I would need to be in order to get the right treatment because not only is MEN rare but as NZ has such a small population, every doctor I had seen told me they had only read about MEN1 in their text books and had no experience in treating patients with it. I was concerned that this was the beginning of a constant array of blood tests and hospital visits, however the operation was a complete success and after around 6 months my implant ‘woke up’ and I began what I call my ‘MEN1 holiday’.
Early on my specialist recommended that if I did want to have children it would be wise to start earlier rather than later as it could become complicated. So once my calcium levels had stabilized enough, I became pregnant with our first child. In the later stages of my pregnancy my doctor prescribed extra calcium to keep up with the demands of carrying this baby, and in hindsight I was prescribed too much as 3 weeks after naturally delivering a healthy but large 9½lb baby boy, I passed a kidney stone (made up mostly of calcium) from my kidney to bladder where it became stuck and I needed surgery to remove it. Not the best start to parenthood but somehow we muddled our way through.
Two and half years later we welcomed our 2nd boy who was (thankfully) a much smaller baby and wondered if our two boys had inherited the MEN1 gene.
During my initial diagnosis, my scans showed a 1cm ‘cyst’ on the body of my pancreas which my specialist assured me was most likely to be just a harmless random cyst that many people have without knowing: however, this diagnosis never sat well with me.
Over a period of 6 years it was watched and even though I knew my specialist was getting sick of me asking, every year I asked if there were any other tests that could be done to ascertain what this ‘cyst’ really was. Eventually ultrasound endoscopy became available to me in order to take a biopsy. The biopsy results showed it wasn’t just a ‘cyst’ but was a neuroendocrine tumour and now it had grown to 2.5cm. As I was being seen through the public health system, appointments and further tests were taking months so I opted to use my medical Insurance and have the surgery straight away. I knew that these tumours could be unpredictable once they reach the 2cm mark. Going into surgery I was told that the plan was to operate laparoscopically and take the body and tail of my pancreas and leave most of the head. However, there was a possibility that they would also have to remove my spleen, and potentially open me right up and remove my entire pancreas so it could be a 3 month recovery. I was so happy when I awoke from surgery to find all went to plan and that I had even got to keep my spleen. They took 12cm of my pancreas which was the body and tail leaving behind about 3 cm of the head. The part they removed was dragged out through an incision just above my belly button, and my scars are very small. I recovered in hospital for 5 days but when I left hospital I had a lot of pain just in one side of my chest. After several visits back and forth to hospital over a 2 week period, I eventually went to my local GP who took one look at me had told me that I had a lung infection. After taking the antibiotic he prescribed I quickly bounced back and I felt great!
During the 2 weeks following surgery I couldn’t really eat, and mostly drank nutritional supplements and quickly lost over 10% of my body weight. A year post op and thanks to my husband’s new hobby of baking every weekend I have definitely put it back on. With only a small amount of pancreas it amazes me that my digestion is almost completely normal.
The histology results from my surgery showed that the tumour was a 2.5cm glucagonoma and it hadn’t spread to my liver or any local lymph nodes – it was such a relief.
My two boys now aged 7 and 4½ years have just been tested and result show that neither of them had inherited my MEN1 gene. I have recently had my annual scans and they all came back clear, so I am now two years post op and completely tumour free.
From early on I have felt passionate about the importance of sharing information about MEN. As our stories are rare, knowing what another patient has been through can help others with their decision-making.
Even though at times having MEN1 has been stressful, I do feel so blessed to know that because it has taught me early on what is truly important in life. I have learnt there is only so much I can control and being proactive about my health and encouraging others to manage their own health is something I hope to pass on.
I hope my story can help in some small way with someone else’s journey.
I knew I’d had a funny turn but had no idea about the scale of what had happened.
My symptoms started back in September 2008 (I was 25 at the time). It was whilst spending a day in London I noticed that I was feeling drunk. I knew I was only drinking lemonade but still asked my dad if he’d mixed in some gin, which of course he hadn’t! We went for a meal shortly after that and I soon felt a lot better.
My symptoms became more and more apparent and by May 2009 I was experiencing the following regularly; dizziness, lack of concentration, exhaustion, tingling mouth and lips (particularly after eating), severe memory loss and the need to eat regularly as I was constantly hungry, which resulted in weight gain. It got to the point where I wasn’t waking up in the morning, my Husband would often attempt to wake me but despite my eyes being open, I didn’t respond. Matt realised that I needed something sweet to eat to bring me round gradually; I began struggling with even basic day to day tasks as I felt so exhausted. Exercise became increasingly difficult as I often experienced blurred vision and would feel very unstable on my feet.
By this point I was regularly visiting my Doctor to provide updates. One reoccurring incident in particular was having strange attacks whereby I would experience erratic involuntary limb movements (both arms and legs) which appeared to look like a seizure. This was starting to happen in public places, on one particular occasion in a coffee shop during peak time but thankfully my Husband was with me and I didn’t injure myself. In May 2009, given the similarity of the symptoms, my Doctor advised me there was a possibility I could have epilepsy and I was referred to a Neurologist as soon as possible to look into this further.
On 2nd June 2009 I experienced something like never before. I was following my boss home after work, as I was going to see his new baby boy. En route I remember following him and then all of a sudden my foot went down on the brake, I was trying to control my driving but I couldn’t control my feet. My boss noticed and therefore slowed down. From here on in, the rest is a complete blur, I don’t have any recollection. The next memory I had I was parked on a grass verge with my boss stood next to my car looking very concerned. I had my head down on the passenger seat and I burst into tears. I knew I’d had a funny turn but had no idea about the scale of what had happened. We then left my car on the grass verge and my boss drove me home. My husband opened the door and knew instantly that something had happened. Thankfully, just that day, I had told my boss about the possibility of having epilepsy so he was aware of what I was going through (to a certain extent). He told my husband in private that I had actually driven into the back of his car and he could see that I was unable to control my vehicle. I was in total shock when he told me; I felt like I was losing control but couldn’t understand why.
I saw the Neurologist a few days later and I was sent for an MRI scan and an EEG. I returned to get the results of the tests but they didn’t show anything abnormal, apparently this can be quite normal for people with epilepsy as they often need to catch a seizure during or shortly after it had taken place. Our wedding was pending so it was decided that I’d start some epilepsy medication and monitor how I coped, increasing the tablets weekly until I reached the correct dose. At this stage I voluntarily surrendered my driving licence. I didn’t notice many changes from the medication although I was becoming increasingly tired; I just put this down to the increased medication I was taking. During the meeting the Neurologist did recommend that I also saw an Endocrinologist just to rule anything out from their point of view, which was sparked following the confession of my constant hunger and the need to eat regularly.
One of the most frightening occasions was in August 2009 when Matt and I arrived at my mum’s house; I knew the code for the alarm so she told us to let ourselves in. It took me a while to even get the key in the door and I felt something was wrong. As soon as we got into the house the alarm was going off and I looked at the key pad to enter the alarm code and it was as if I had never seen it before, I had no idea what the number was. I just stood there in a daze whilst Matt tried to engage me in conversation. He called my mum to get the code and I went to lie down as I was exhausted. In hindsight this was the worst thing I could have done as I needed to eat to bring my blood sugar back up. I went into a deep sleep and two hours later my mum and Matt woke me up for tea. I was apparently very vague and had a blank expression. I then had two hypos which lasted about 20 minutes each. This was the first time my mum had seen this, it was very distressing. When the first hypo lasted longer than usual they called an ambulance, as the ambulance staff arrived I had the second hypo so they were able to see firsthand what had been happening. They said that this wasn’t characteristic of an epileptic attack and they checked my blood sugar level which was 1.9. I was given a sugary cup of tea and some bread coated in jam but as a precaution, given how low my blood sugar was I was taken into hospital and kept overnight for further investigations & released the following day.
I visited my doctor again at the start of September 2009 after my time in hospital and it was during this appointment that the first discussion of insulinoma was raised. My doctor mentioned that whilst she was at medical school she had learnt about insulinomas and the symptoms. The Doctor said that she would notify the Neurologist about her thoughts and take it from there.
Matt & I then got married and we had a wonderful day and a wonderful honeymoon! Upon our return my symptoms got increasingly worse and I was now seeing an Endocrinologist. I had a series of fasting blood tests and the lowest it went was 2.6. I was now adamant that I had an insulinoma and so continued on my quest to get a diagnosis. The Endocrinologist was very helpful and now that he knew that I didn’t have any additional stress I had a prolonged fast which lasted about 6 hours, by which time my blood sugar had dropped to 2.4 and after analysis it showed increased C-peptide and insulin levels, by this point an insulinoma was looking increasingly likely. In early January 2010 I had a CT scan which confirmed a 2.6cm lesion on the tail of my pancreas which was confirmed as an insulinoma. I was shocked but also relieved at the diagnosis and thankful that after the journey I had been on I had reached a point whereby it could be dealt with. I was put on Diazoxide in the short term and I then had an endoscopic ultrasound to confirm the location.
During March 2010 I had open surgery to remove the insulinoma (at this point the original site of the insulinoma was ruled out and an insulinoma at the head/neck area of the pancreas was confirmed). Although this was successful, the original site of the insulinoma, on the tail of my pancreas, was in fact another insulinoma and so my symptoms remained. This was then successfully removed at the end of April 2010 as well as my spleen and although I had had two lots of open surgery in close succession, I was relieved to see that my blood sugar levels were slowly returning to a normal level despite a few peaks in my sugar levels as my body readjusted. I had some complications following both lots of surgery which included infections, a collection of fluid where my spleen used to be and a build up of fluid on my left lung. All of these were treated following a few returns to hospital.
I continued to have regular checkups and made slow but steady progress with my recovery. During one of my visits to the Endocrinologist the genetic condition MEN1; Multiple Endocrine Neoplasia Type 1 was discussed and it was suggested that I should be tested as I had had multiple insulinomas. Thankfully, I had read an article on MEN1 so had some background knowledge. I agreed that this was worth investigating and an appointment was made to see the genetics team. It began with genetic counselling which explained all about the condition and my family tree was reviewed to see if there had been any particular health issues that could be connected to MEN1. I had the genetic blood test and had to wait a number of weeks for the results. The results arrived through the post on the morning of New Year’s Eve 2010. It was confirmed that I had the genetic condition MEN1 and there was a booklet enclosed explaining the condition. To say I was shocked was an understatement and it really did take some time for the news to sink in. No longer was I dealing with two insulinomas that had been removed, I now had a lifelong condition to consider. Since then, both my dad and uncle have been diagnosed (my brother was clear).
During 2011 I was found to have one further small insulinoma on the pancreas which was picked up by a scheduled endoscopy (I also had another suspected one however it was too small to take a biopsy at the time). I was upset to hear of further growths however, the one insulinoma was treated with a new treatment which involved injecting the insulinoma with alcohol to try to break it down. This treatment is still in its research stage, however for me it was a success. I had a course of two injections via an endoscopy. The side effects afterwards were uncomfortable however, the fact that I didn’t need open surgery again was a big relief and it meant recovery time was a matter of days.
I have since had a further Endoscopy in December 2012 whereby another small Insulinoma was found & treated the same way with an injection. At the start of July 2013 I had an MRI scan with contrast which highlighted a potential problem area at the head of the Pancreas by the bile duct which was thought to be another Insulinoma. I then had an endoscopy & a biopsy was taken. I did unfortunately have pancreatitis following this procedure however the results showed nothing to report at this stage. A further scan will be completed in December 2013. I have a shadow on my pituitary gland and have annual checkups on this via a scan. I just keep my eye on things in the meantime.
I have a fantastic team who look after me at the hospital and I know that if I ever have any problems I can get in touch with them without hesitation. I now have an annual check up when my bloods are checked along with an endoscopic ultrasound to view my pancreas as this seems to be my troublesome area. My Consultant wants to ensure that I hold onto my pancreas for as long as possible by trying to deal with any new growths as quickly as possible. There is no guarantee that I will not continue to get insulinomas however, regular checks keep me positive.
Life has its ups and downs living with MEN1, it’s important to try not to worry about what may happen and instead enjoy life to the full, dealing with things as and when they arise. It’s amazing the difference steady blood sugar levels have on you and I’m just thankful to my fantastic Husband, family and friends who continually support me along this journey, thank you to each and every one of you.
Funnily enough, my story ‘began’ in 1992, but I didn’t find out I had a story to tell until 2008, and then only by my own quest for knowledge!
I was sitting waiting for a routine annual blood test at my local surgery to check cholesterol levels etc, idly reading my own medical notes on the computer screen. “Possible hyperparathyroidism”, it said, and I memorised the word to check on Google when I got home.
It was on my notes from 1992, the year I had my second child, a son – Greg. He had been admitted to hospital at 6 days old suffering from tetany (muscular fits), which, they found out within 4 hours, had happened because Greg had hypocalcaemia – very low calcium. At the time they checked my calcium levels and found them to be at the very top of the normal range (2.2 mmol/L – 2.6 mmol/L), and decided that my relatively high levels had caused his problem. Because Greg had received high levels of calcium before he was born, his little glands hadn’t ‘woken up’ to make any of his own and his levels had steadily dropped since his birth. He was given calcium intravenously and vitamin D drops (to aid the absorption) and within a few days was right as rain, and sent home with no long term effects.
No one said anything more, and I didn’t realise the significance of having ‘high’ calcium until I went home, Googled the magic word and started to read about hyperparathyroidism, the probable cause. There was a long list of symptoms which could describe how I was – tired sometimes, forgetful, irritable, aches and pains…..the list went on, but they were all part of being a normal, busy working mum who juggled every day life just like the rest of us! There were other things on the list like osteoporosis and kidney stones that could happen as a result of high calcium and I thought it was sensible to get my levels checked again – after all, this was about 15 years later! So I made an appointment with my GP, who arranged for a blood test, and a couple of weeks later the results showed that it was now very high – 3.1mmol/L. I was referred for tests and scans, and it was thought that I had an enlarged parathyroid gland which needed attention. Tests also revealed that by this time I had indeed got osteoporosis and nephrocalcinosis (small calcium deposits throughout my kidneys) – as a result of 15 years worth of too much calcium being taken out of my bones and dumped in my blood by a tiny little dysfunctional gland the size of a grain of rice! It had to go, I was only 49!
So in July 2007 the gland was removed during a one night stay in hospital and a fresh blood test done the following morning to confirm that my calcium had begun to return to normal (yes, it happens very quickly!) Except that in my case it hadn’t happened. So I found myself a few months and tests later, having two more parathyroids removed and at last my calcium level went back to normal. Jo says I’m the only patient she knows with 2 vertical matching scars on my neck!!
Me being me, by the time I went back for the follow up appointment with my consultant I had read all about multiple parathyroid gland removal and had already come to the conclusion that it may be likely that I had MEN1, so it was no surprise really to have it confirmed as a strong suspicion, and I was referred to a Geneticist and the Endocrinology Dept at my local hospital. My first genetic test was negative, but the geneticist still believed I had the faulty gene and asked for further tests, which came back positive. I was put on a screening programme which involves an annual MRI scan and blood tests to check on gut peptides etc.
Meanwhile my children, then 15 and 19 both elected to have their genes tested and in a true 50/50 chance situation, one has the disorder and one doesn’t. So my son and I go together to the screening and consultant appointments and keep each other company. Greg doesn’t suffer with any problems yet despite having the faulty gene, but will probably have to face his parathyroids becoming problematic at some point.
My MRI scan also revealed a tumour in the head of my pancreas which appears to be non-functioning (all my blood tests are normal). It was missed at the first scan and picked up a year later, but it remains exactly the same size as it was at first, and has continued to be stable for the past 3 years. My decision at the moment is to watch and wait, since it is causing no problems, and further, more detailed scans have revealed no spread or change in behaviour. Because of the position of the tumour, the operation to remove it would be a major one which may involve losing other bits of my digestive system, which I would rather keep – I like my food too much!!
I think my Mum has MEN1 too, although she has never been diagnosed officially. Her calcium is over 3.0 mmol/L but she has reached the grand age of 80 this year with few problems – a kidney stone and a carcinoid tumour (a rare complication of MEN) removed from her lung. I can fully understand her reluctance to go down that path of scans, tests etc at her age….sometimes too much information can be difficult to cope with, and my Mum would rather not know. She’s happy how she is.
Since my diagnosis I have found AMEND and becoming a member of the charity has been an enormous help to me. I have become more involved, volunteering to be a Telebuddy (have probably spoken to some of you!!) and now I am the UK MEN1 representative sometimes accompanying Jo and Janet on their travels to spread the word to other patients and hopefully help them come to terms with their diagnosis. I even got to go to Italy with Jo to the international MEN conference in 2010, where I was lucky enough to have dinner with some of the top experts in MEN. Where else would I ever get an appointment and manage to have a chat with someone so well informed and held in such high regard in their profession?!
Finally I became a Trustee for AMEND and enjoy helping make sure we deliver our aims and objectives fully. Fundamentally we support patients with MEN and I have felt so much better as a patient since knowing about AMEND and its work. If I can help others to feel that way too then I will have achieved something! I feel very strongly that because knowledge is growing at a very fast pace about MEN, the future is all about preventing problems by regular screening and sorting things out in good time.
I am very happy to speak with anyone about their experiences or mine if it helps, and can be contacted through AMEND.
I was diagnosed with MEN1 in 2005 and had my first surgery, a subtotal (partial) parathyroidectomy in early 2006. My mother had died in 1985 from cancer and had undergone a parathyroidectomy earlier in life following kidney stone episodes. We made the link with her illness and I was able to obtain a copy of her post mortem report, from this it was clear she had had MEN1 but was never diagnosed.
Since 2005 I have been regularly scanned and monitored at the OCDEM at Churchill Hospital, Oxford under the guidance of Professor Rajesh Thakker. They have identified a pituitary tumour that currently appears to be stable and some obscure tumours on my adrenal glands, again these are stable and non-functioning and it’s possible they have nothing to do with MEN1. Recently, I am hypercalcaemic again so it looks like I will need to revisit the parathyroids sometime soon.
For several years prior to 2010 I had been having abdominal symptoms, mainly diarrhoea and latterly nausea and sickness. I work as a Lighting Cameraman in the broadcast industry, generally outside on location so you can imagine the difficulties that these symptoms presented at my workplace. I coped fairly well and kept myself under control with a cocktail of ever increasing doses of Omeprazole, Imodium and eventually Ranitidine. But occasionally things got the better of me and I ended up being sick at work, one occasion in Green Park just opposite Buckingham Palace where I was supposed to be operating a camera covering the state visit of President Obama and the other notable occasion was in the car park at Glyndebourne following an opera performance, just as the well healed audience were leaving following their night of culture. That didn’t go down particularly well.
My regular bloodwork at Oxford was showing elevated levels of gastrin, a hormone that stimulates the stomach to produce acid. This was obviously the cause of my symptoms and the Omeprazole, a proton pump inhibitor helped to suppress this excess acid. Although we were unable to image anything with regular MRI, there was definitely something going on and the team at Oxford suspected a gastrinoma. Eventually, in late 2010, they decided to perform an endoscopic ultrasound examination and were able to image a lesion of about 9mm on the neck of the pancreas. I was told it is usual to allow lesions to grow to about 2cm before intervention because of the complexity and risks involved with pancreatic surgery. But it was quite unlikely to turn nasty until this point, so a wait and see approach was undertaken.
Further scanning was done in late 2011 but this now showed lesions in the liver and local lymph nodes and was consequently malignant, my illness had not followed the expected protocol. Further Octreotide scanning was undertaken in January 2012 for confirmation. I met with the surgical team lead by Mr Zahir Soonawalla in early March and a date for the operation was set.
They were going to attempt to remove the pancreatic lesion but if that was not possible, they were ready to do a Whipple procedure. In addition, they were going to perform a left side liver resection to remove the tumour there and remove the surrounding lymph nodes. The gall bladder was attached to the area of the liver that was coming out, so that had to go too. They told me that often gastrinomas are located in the duodenum, are tiny and not easily imaged, so once under general anaesthetic they would explore this area with an endoscope.
Surgery took place on the 3rd April 2012. They got the pancreatic lesion out without needing to do a Whipple. The liver resection worked too. They found five duodenal gastrinomas and were able to remove three without doing too much damage, so I am left with two in situe. As they had not needed to do a Whipple, I woke up on the general ward instead of ITU as I had been expecting. Initially that was a worry for me as I was unsure if they had done anything at all, but I was soon brought up to date and I could rest easy for what remained of the evening.
Next morning I awoke in pretty good shape although a little delicate, I had had a quiet and comfortable night thanks to the epidural they had offered me before anaesthesia. I had two drains through my stomach wall near the incision and had two nasogastric tubes, a catheter (don’t ask), IV meds and fluids too.
I was quite surprised when they wanted me up on my feet as soon as I could. In fact, the physiotherapist was around that afternoon and made me walk a few steps, and then having completed that, the length of the ward. It was all quite a challenge, not because of pain, but wrangling all the tubes, bags and monitoring was a new skill I was going to have to master. To help prevent chest infections I was told to walk around and get as much exercise as possible.
I was going to be nil by mouth for some time and was outrageously thirsty. All they would allow me to do was sip water. Anyone who knows me will be aware that being nil by mouth for more than about an hour would be a significant challenge.
The days passed quite quickly and I had a stream of welcome visitors. I was soon able to walk unsupervised and set myself a target to walk around the unit twice a day. The epidural was removed after four days and I needed only paracetamol from there on. The catheter was gone too, so I could add visiting the toilet to my exercise regime.
One of the tubes through my nose was dangling into my stomach, and the other went further, I think into the upper intestine. My duodenal area and lower stomach were clamped shut because of the post operative swelling. So anything I swallowed would return via the NG tube to be collected and measured. The idea was to record all fluids going in via the mouth, no matter how small, and to record everything coming out. Any difference would be passing through the swelling so, with this method they could tell how well the healing process was going. In my case, more fluid was coming out than going in so my stomach was still well sealed. The extra fluid must have been stomach secretions etc.
This presented a problem, there was lots of fluid coming out through my nose and the more natural route, (which I also had to collect and measure). But the only real volume going in was via IV. In those excreted fluids were minerals and salts. Because of this, I began to suffer from depressed potassium levels, not an ideal situation apparently. Initially the lost potassium was replaced via IV. But it got to the stage that they could not safely get enough potassium back in to balance what was coming out.
We were at around day twelve and they had just removed the staples from the incision site, when due to the salt and mineral imbalance, I got a dreadful attack of hiccups. I was having literally massive convulsions every 20 or 30 seconds for three consecutive days. That was horrible and the convulsions caused my wound to open up again – quite a shocking sight.
Because potassium has an effect on heart rhythm, to get any more into me I was taken to ITU so they could increase the dosage further but monitor me more thoroughly and have one to one care whilst this was taking place. I really don’t know what they did to me whilst I was in there but I was off with the fairies, imagining all sorts and got quite confused. I am told this was normal and was all due to the drug regime. I don’t remember very much about it but I was in there for five days whilst the superb team got me rebalanced. Everyone was fantastic and it was a real multidisciplinary effort
After my ITU stay, I was back on the upper GI ward and felt much better but I was still not able to eat, although I was allowed to drink small quantities now. All the fluids I consumed were still returning via the NG tube. They had begun to feed me, but as a fluid down the other (NJ) tube into my upper intestine. I had lost a huge amount of weight. I was 118kg at the time of operation and got down to 95kg before the feeds were started.
After several CT scans they decided that my stomach was not opening as there were sacks of unidentified fluids surrounding the stomach and duodenal area and maybe this was causing the difficulty. I underwent a procedure to introduce a drain into these sacks under CT guidance. Once the drain was in, they were able to draw a significant amount of this fluid off and the tube was left in so any new fluids could be cleared.
Within two days of this, I was in trouble again. I had spiked a temperature and began to get confused. Somehow I had contracted an E coli infection and it was knocking me for six. I went into acute renal failure; my kidneys could not cope with the infection so simply gave up. Again the multidisciplinary approach in the renal unit paid off, I was under the simultaneous care of six departments including the hepatobiliary, ITU, renal, endocrine, and microbiology teams. Together they prescribed high dose antibiotics and IV fluids and quickly got the situation resolved just before I was going to need kidney dialysis. I ended up with a catheter again and the associated tubes, bags etc. I was totally unaware of what was going on during this time. I slept a lot, but although I was awake during visits, I was away with the fairies again and talked nonsense most of the time, I am told.
After around five days I was well enough to return to the upper GI ward again. My fluid intake had improved dramatically and I was allowed to start eating. Although only hospital food – soup and ice cream to start with – this was a moment of sheer pleasure. After a further five days or so, I was eating well, feeling fit and ready for discharge. I made sure I was always washed and dressed in time for the doctors’ ward round so they could see the progress I was making. I returned home on the 18th of May so I had stayed at the Churchill for about six weeks.
The first two days out were quite surreal. Yes, it was great to be home, but it did take me 48 hours to get used to the home environment and seeing all the colours of the garden again. It was quite a contrast to being institutionalised for all that time. I did absolutely nothing for nearly a week, watched a bit of television, read the papers, and sat outside in the sunshine with the family. It was paradise.
The community nurses visited me every other day to redress my still slightly open wound. That lasted for about a week until they realised how mobile I was, so I had to attend the GP’s surgery from then on. I had to self administer an injected anticoagulant for the first seven days and I was allowed to drive again shortly afterwards. I started to do some simple work (from home) after about two weeks, and I undertook my first location job, (although on light duties) on 10th June. My first day on full duties was on the 27th June but I was still only ready to do perhaps two to three days a week at that stage. I started the Olympic project for the BBC on the 16th July and completed 10 consecutive 12 hour days before getting a day off, so this was a real test of whether my stamina had returned. My wound finally fully healed in the first week of August and following five weeks working on the Olympics I spent a fortnight away in France with the family. I fully relaxed whilst away and now feel like I did before the operation – just with a huge abdominal scar to show for my adventure.
I have to say how brilliant everybody was at the Churchill Hospital, from the consultants, the surgeons, the nurses and health care assistants etc. I could not have asked for better care, a triumph for the NHS. Although I had a fairly stormy post operative course, my stay in hospital was a positive experience. They have certainly extended my life expectancy and, although I am uncertain what the future may bring (we might end up repeating this all again shortly), I am delighted with what has been done for me. A big positive is that although I have MEN1, I have not passed the gene to either of my daughters, so it all stops with me. That’s a real relief.
In addition to the NHS care, my family and friends have been a huge support. Love and care from those that mean the most to you is so important. I had a constant stream of visitors both in hospital and during the first few weeks at home. The people I work with ensured that conditions were created that would allow me an early return, they stood over me and made sure I wasn’t doing things to early. You can’t ask for much better than that.
In hindsight, the only thing I would say to others, those who might be about to go through this, is to be careful about taking at face value the reassurances that might be given by medical professionals. I did lull myself into a false sense of security. The line was, don’t worry, we will get this out before it turns nasty. You make life choices based on this information and in my case it did not quite work out as I expected. It must be unpleasant to have difficult conversations with patients but I wanted to know everything, irrespective of how bad the prognosis might be.
At the fresh age of 21, my MEN1 tale is already complicated and drawn out, though I feel grateful for it having taken place with speed and precision compared to the lengthy trials I have heard other patients endure.
In 2008, when I was 18 and had just started my first term of a Medieval-English degree, I went to see a GP because of some persistent, frustrating symptoms that had pestered me for a few years, but which I had ignored. When I was at college studying for A-levels, I’d often make a desperate walk home feeling as though my legs were about to give way, and would collapse on the sofa after scrambling for some junk food, which I knew would quickly set me right.
For two years, my parents and I put these occurrences down to ‘growing pains’, which seemed reasonable at the time, but once they became more regular, more debilitating, and were accompanied by dizziness and headaches, I realised that they were probably a manifestation of something a little more serious.
Soon after my initial appointment, a quick blood test showed a high calcium level alongside a ‘normal’ parathyroid hormone level (which, despite being in the reference range, was actually far too high for such soaring levels of calcium). My brilliant GP immediately referred me to an endocrinology department at the nearby university hospital, suspecting hyperparathyroidism (a diagnosis that is apparently frequently missed according to the online research I indulged in as soon as I got home).
After a few months of waiting, and an impatient letter to the doctor in charge of the endocrinology clinic, I was added as an ‘extra’ to my consultant’s list of patients, meaning I don’t have to wait to float to the top of a waiting list, for the small price of turning up on time while my consultant runs an hour late – after having learned of all the possible complications that could be brought about by hyperparathyroidism, I simply didn’t want to risk any symptoms or operations coinciding with important exams.
I remember that my first appointment was rather confusing; it seemed clear enough to me that I had hyperparathyroidism and that was the end of it, but my consultant didn’t seem to believe that my reported symptoms fitted the condition. At the time, I naively thought that she was just missing something, but I put up with the countless blood and urine tests that ensued, unknowingly accepting a genetics test among them.
Once seventeen months had passed since my first appointment with a GP, I was hit with the surprise diagnosis of MEN1 – a condition I had never heard of or read about before – as determined by the genetics test. It turned out that my earliest symptoms – fatigue and muscle tremors rectified by eating – were not brought on by hyperparathyroidism after all, but rather by a collection of insulinomas on my pancreas, which were confirmed by a 72-hour fast the next week (thankfully, I only had to last for 60 hours before the tumours were confirmed!).
Naturally, as soon as I was diagnosed with MEN1, I had a multitude of scans: ultrasounds, CTs, MRIs, a bone-density scan, as well as blood-glucose monitoring. Despite having no family history of MEN1 (with familial genetics tests eventually showing that I was the lucky recipient of a sporadic mutation!), and though I was only 19 at the time of the scans, they determined that I had multiple parathyroid tumours which had already caused weakening of my spine and hips; I had insulinomas in the body and tail of my pancreas, as well as non-functioning tumours in the head; I had a pituitary microadenoma, which has recently been confirmed as a prolactinoma; and, though it wasn’t discovered until the day of my distal pancreatectomy, I also had a large, non-functioning adrenal tumour.
It took some time to get used to this information – it still doesn’t seem quite real – but the condition has affected me greatly in a very short time. By May 2010, I had reached a point where carrying on with university was no longer an option. Concentration became constantly elusive, leaving me with the ability to read for just twenty minutes at a time, and I was too tired even after long sleeps to drag myself to lectures or bother with socialising. So, I took the difficult decision to suspend my education. Two months later, in July 2010, I had a sub-total parathyroidectomy (3 parathyroids were removed, along with my thymus), though this only granted me a week of symptom-free life. Then, in September 2010, I had a distal pancreatectomy (about half my pancreas was removed) and an unexpected unilateral adrenalectomy. My pancreas has remained functioning (though it gives me pain at meal-times), and I don’t have any signs of diabetes, though, while I haven’t suffered from hypoglycaemia since that operation, I still feel fatigued, forgetful, depressed, and debilitated.
Disappointed after two significant operations – and my pituitary tumour not being taken seriously by the doctors at the time – it seemed that my symptoms, clinging to me for as long as possible, were the result of one last parathyroid tumour. This was finally removed at the start of June this year, meaning that I’m now on life-long vitamin D and calcium (which I don’t really mind – I even think the calcium tablets taste like candy sticks I used to have as a child!).
Unfortunately, I still didn’t feel any relief whatsoever from the symptoms that have pestered me persistently since leaving university. I started to wonder if it was all just psychological, but I pushed and pushed for explanations, making my doctors give me a second 72-hour fast, as well as other non-standard blood-glucose tests, and had them keep me in hospital when they were ready to let me go home. Eventually, I got them to take my pituitary tumour seriously – bizarrely, up until this point, they thought it was insignificant compared to the more pressing parathyroid and pancreas problems, but they just ended up forgetting about it entirely – and I’m now in the process of arranging medication for a prolactinoma, which I am desperately hoping (via lowered testosterone) is the cause of my symptoms, as it’s the only untreated MEN1 condition I have left.
Through all this, my treatment has not been without its fair share of complications: I have suffered through the unforgettable pain of two extreme infections, one of which shut down my digestive system, while the other played havoc with a kidney and later threw up a stone; my second operation caused a surprise pulmonary embolism, which was missed by the medical team at the time and was only incidentally discovered on a CT scan; and I have been on the receiving end of some unfortunate medical absent-mindedness, forcing me to take control of situations that I oughtn’t have to deal with without professional help.
So, on the face of it, it would seem that I have a lot to be sad about, yet, through it all, I have never really minded having MEN1. I’ve been unsure about my future and concerned for my education, but it has never really upset me. I am too grateful for the fact that my family will never be affected, and for the tremendous work done by AMEND; and I am so lucky to be a patient with 21st century medicine and modern doctors, that I simply cannot feel unhappy about it. To me, it’s a strange, sometimes painful quirk of my bodily mechanics, but it’s one that will soon be brought under control, and my most difficult trials are not in dealing with the health condition itself, but rather with making sure that my doctors are paying sufficient attention to all aspects of my case.
I have no medical explanations or elixirs to offer – just the story of how it was to discover that I’ve inherited MEN1, followed by some of the subsequent experiences. Here’s the picture. I am an ex-restaurateur, still working as a writer and living in a small Victorian terraced house with steep steps to the front door and even more stairs indoors. None of these things noteworthy until three plus years ago when, increasingly tired and with legs more jelly-like by the day, the stairs, walking, focussing on simple tasks, became a problem. My father had recently been seriously ill following removal of a non-malignant pancreatic tumour and of his left kidney around which the tumour had wrapped itself; he was very frail and subsequently found to be suffering from hyperparathyroidism, although no link was made between his pancreas and parathyroids during his life time, and it certainly didn’t occur to us, his family, that he had an inheritable illness. In fact he lived, unknowingly, with MEN1 until his eighties, although not a well man. I assumed my increasing exhaustion was the usual scenario – work pressure and the constant travelling to see him in hospital. My brother, five years younger than I, was on the brink of being diagnosed with hyperparathyroidism. And so, reluctantly I went to the GP, personally convinced my problem must be a spinal tumour causing the increasing muscle weakness, not only in my legs but arms too, along with a general feeling of malaise. A classic case of patient misdiagnosis!
Don’t worry, the following diary extracts don’t go on for long, but these snippets will ring true to many with parathyroid problems, although written well before diagnosis.
July25th, 2006: Hot, hot weather – bones hurt and feel depressed.
July 28th: Very flaky but got to surgery to find doctor is anxious about hyperparathyroidism (????); was told to return to the surgery immediately if I feel any iller. Came home and Googled hyperparathyrodism………
4th August. Blood results back. Doctor says parathyroid levels off the wall.
Broke the news to my mother who says this isn’t possible, only men have parathyroids. So much for maternal wisdom! But of course she has the excuse that when she was born, parathyroids in the human were unheard of: they were not medically understood until the nineteen thirties.
The rather weary diary entries continue.
In the following weeks I went to see the surgeon at Southmead Hospital in Bristol, Mr Justin Morgan, who would ultimately remove the said parathyroids and who proved to be the fount of much valuable information. I discovered the perils of hyperparathyroidism, Stones, Bones, Abdominal Groans and Psychic Moans. Stones (kidney stones due to excess calcium in the blood) Bones (the aches and pains caused by metabolic activity in the cells of the bones breaking them down, abdominal groans (some patients suffer from stomach ulcers and constipation) and Psychic Moans (the extreme tiredness that seems impossible to combat). Having had anaphylaxis after previous surgery and being latex-sensitive, I became increasingly jittery prior to the operation. So much so that on waking up from the surgery, incidentally with the neatest scar in the business, I had to enquire as to whether or not I was alive – but actually life did begin again. And I quote here from Mr Morgan, who likens the removal of troublesome parathyroids to ‘putting the lights back on’ for the patient. It seemed extraordinary that the word parathyroid was unknown to me until this year and now played such a major role in my family’s life.
In the interim my father died and my brother was found to have malignant pancreatic tumours. Sadly the diagnosis of MEN1 came too late for my brother and he too died, and here I offer greatest sympathies to those of you who have suffered similar family bereavements. As any MEN1 patient will know, discovering a hitherto unknown serious inherited disease is disturbing, and is also a lonely business. Let’s return to the role of the GP. Mine was very supportive but he had no other MEN1 patients and could only hope to move with my illness, not ahead of the game. I knew almost as much as he did at this juncture. Suddenly life was taken over by hospital visits, not just one hospital because the appropriate specialists don’t all work under one roof. You find yourself telling and retelling your story, confronting a battery of methods of investigations from MRI to CAT scans to blood tests, including signing along the dotted line for genetic testing. On confirmation of diagnosis, the geneticist, knowing my anxiety, rang one Friday evening when I was away for a weekend in Devon and curiously I found myself unable to discuss either the confirmation or the diagnosis with anyone over that weekend. If you suffer from a better know illness, there may be some sympathetic tooth-sucking amongst friends, but MEN1 is such a complex and far-reaching problem and I couldn’t find the wherewithal to begin to explain it. Thankfully the geneticist made the crucial introduction to the knights in shining armour, the AMEND group.
There is a giddying relief in finding others with the same problem. The three PPP’s, parathyroid, pituitary and pancreas make a formidable challenge to one’s well-being. I am fortunate in that I do not have the Full House, i.e. only parathyroid and pancreatic problems. With new-found insight into the pitfalls of MEN1, my big fear became that of extensive pancreatic surgery, the removal of such a crucial yet difficult organ. I did not believe people could exist without a pancreas, yet at AMEND meetings there was walking, talking, laughing evidence that pancreatectomies are not only possible, but life can continue afterwards – however, only with courage and an ability to adapt to the use of insulin and fistfuls of other medication. Having never considered support groups as being a necessary part of life, I now found myself a needy person. It was a blessed relief to find AMEND had well annotated information right across the spectrum of this illness.
Of course things don’t end here. There are family questions and personal issues involved. My brother left two teenage children, one of whom does not even consider she may inherit a disease; she is at present, the family air-head! Her brother, my nephew, is at university in the States and though curious and anxious, is fearful that positive diagnosis may affect his future chances of work, the possibility of an American visa and equally the chances of satisfactory insurance; so far he remains untested. These are imponderables we all face, and although logic may tell us that families should discover their inherited risk factor in their teens, I can understand both view points.
There is the question of ongoing monitoring of the illness and the inevitable bouts of anxiety. In the initial stages of discovery of MEN1 when the specialist visits are frequent, it’s comparatively easy to log the questions, ask them and allay immediate fears. My concerns occur in the middle of the night and often seem too trite when dawn breaks to bother the specialists with: I am like many, reluctant to go the GP’s surgery because unless guaranteed a knowledgeable ear – my particular GP within the group who is familiar with the way things are – satisfactory help is often difficult. Emergencies are never planned and I suspect this is an area where we could all do with easy access to someone who knows our case history and about the illness and can suitably judge the relevance of various symptoms, whether or not the bumps, gurgles, creaks and groans are of any import.
At present scans show that I have pancreatic neuroendocrine tumours. These were being monitored with an endoscope, measuring their size through the pancreas but this is no longer possible because of calcification at the head of the pancreas. From now on I have to rely on MRI scans, with my fingers permanently crossed that the scans won’t show that the tumours have grown beyond the critical 2cm size when surgery would be required. Consultations can be another foggy area, remembering exactly what was said and interpreting it correctly. It helps immeasurably to receive a letter outlining the conclusions of a consultation, also blood test results. I think my overall view is that I have had some brilliant treatment but subsequent communications are sometimes chaotic and inadequate, leading to unnecessary anxiety. The new AMEND MEN passports are an excellent aide-memoir when it comes to keeping track of medical events; you think you will remember every blood test, x-ray, and scan but details become blurred, particularly when it comes to order of events. As patients, we walk quite a fine tightrope between medical episodes, so sympathetic and informed treatment is our lifeline. Stem cell research and therapy may feel like stardust in our eyes today but let us hope it will produce a bright future for our families.
A 2013 postscript
I remain well! My brother’s children remain untested; my niece has metamorphosed from the family air-head to into a bright young medical student! But I would reiterate that in order to allay the inevitable barrage of anxieties that accompany Multiple Endocrine Neoplasia Syndrome, medical support and understanding is crucial for us all.
Erin's Poem, 'Ode to MEN1'
Ode to MEN1
From the beginning, to the end
With you my mind and body contend.
Embedded within chains of sequence
To whom do you owe your allegiance?
To the host? To yourself? What is your aim?
There is none of which you are left to gain.
I defy you as you do me
My own goal is to get you away from me.
You hijack my organs and wreak havoc where you tread.
Though you can be extracted, and the hole sealed with thread.
Fighting nature is a futile spend of time.
Most feel nature is wonderfully sublime.
Yet it often defeat its own objective
And how you attach me is not selective.
Within each being you choose your own route
Although you are bound to the cells you recruit.
Your existence depends on mine only.
Was always there but only now you show me
What it is you do to the being you inhabit
However, I have come to terms that I have it.
What can I do? How do I cope?
I hate you, I loathe you, you eclipse my hope.
Burying my head I weep in front of you.
Then, I feel a compulsion to rise and confront you.
There are people out there to whom I can turn
And much information, I have mounds to learn.
You are not the reaper I perceived you to be.
Just a small part of life and of me.
Whilst it is likely you will in the end win the war
I will never give up to at least even the score.
Battles to fight and I am forever ready
To face you with courage, strong and steady
Somehow or other, I’m actually glad we met
The test to identify you I do not regret
Strength of the mind is underestimated
There will be days when I feel sad, deflated.
But I see you differently now.
Above your station, to me you must bow.
This is my life, my head and you may not enter.
Stay on the periphery, I stay in the centre.
“I can do this” I say when I venture once more to hospital.
I go with an open mind as anything is possible.
Whatever the result, I will not be beaten.
Any negativity is simply fleeting
The fear of ill health that plagued me for years
Needed a catalyst to forever quench my tears.
Something to break the irrational barrier
It was after I was told I am a carrier.
An opportunity to see what I am made of
The arena is free and never rained off.
I’ll fight you anytime, permanently poised.
You are not stronger than my resolve and my voice.
Lead with the head and let logic rule
The will to live is my perpetual fuel.
You may destroy my body but my mind will not yield.
The goal is to leave no dream unfulfilled.
We dance, we spar and I am victorious.
The efforts can soon become laborious
But I accept you are my opponent forever
No second chances for me to endeavour.
You are here to stay – well, so am I.
Right to the end when our two fates collide.
We are often blinded by perceptions of weakness
Mistaking the darkness as a sign of meekness.
Each time you strike, up I will rise
To look at you in my very own eyes
And put you back in your rightful place
Until you shrink into a smaller space.
Just you and me, that’s how we will be.
And when I have to leave, I’ll be taking you with me.
Harry (aged 7) - by mum, Christine
Is is very rare for someone as young as Harry to develop so many MEN1-related tumours. Harry’s mum describes what they’ve been through over the last couple of years and how Harry is now.
Tell us a bit about you and Harry
My name is Christine and I am mum to Harry who is 7 years old. Harry was diagnosed with MEN1 when he was just 6.
How were you diagnosed and how long did it take?
Harry wasn’t well at school, so we ended up in hospital where we found out he was hypoglycaemic.
What treatment have you had and how did it affect you then and now?
After a few weeks Harry was admitted to Great Ormond Street Hospital where he had a lot of tests, including a genetic test. Harry had MEN1, inherited from his father.
Harry had tumours on his pancreas that were making too much insulin. He had half his pancreas removed in December 2019. Now we check his sugar levels before each meal and after his snack at bedtime. He has corn starch twice a day to keep the glucose stable.
In February 2020 Harry had his parathyroids and thymus grand removed as his calcium was too high. He now goes for regular blood tests and he’s on calcium supplements once a day.
How has all this affected your family?
It has been a tough journey for everyone. As a mum, watching your child go through something that you can’t control or make go away is heart-breaking. However, Harry has just got on with it. It hasn’t stopped him going to school, running around, playing football.
What lessons have you learnt along the way (if any)?
Not all disabilities are visible.
Who’s been your hero? Perhaps it was you!
Harry without a doubt – he’s my hero.
Was AMEND helpful during your journey?
Yes definitely. Gill is always there when I don’t understand results or I just want a chat.
How are you now?
Still learning about how to live with MEN1 in the family from a mum’s point of view. But it doesn’t hold Harry back. He’s a bouncy 7 year old, soon to be a 8 year old.
AMEND has developed information resources especially for young children like Harry.
Visit our Kid’s Section: www.amend.org.uk/patients/kids/
2021 MEN1 Patient Experience Films
MEN1 - My Story: Emma
MEN1 - My Story: Steph
MEN1 - My Story: Kevin