Association for Multiple Endocrine Neoplasia Disorders

MEN1 Patient Stories from members of AMEND

I live in a suburb just north of Seattle, Washington.  I have been married nearly 26 years to the love of my life, and we have identical twin sons who are currently in college.  I was a paralegal for 15 years and left that career to stay home and focus on raising my boys.  I have since worked as a business manager for my husband’s dental practice and have enjoyed volunteering in my boys’ school and Little League activities. We love to spend time in the mountains skiing and hiking, and enjoy traveling.

My journey began in 1996 when I was 32 years old, married to a loving and doting husband, had beautiful and healthy twin boys and was pregnant with our third child.  On February 14th I was being treated in the emergency room for a miscarriage and an ultrasound revealed a pancreatic “cyst” that the doctor suggested I might want to have checked out.  My grandmother had passed from pancreatic adenocarcinoma, so I was definitely going to get it checked out.  Within three days, I was diagnosed with a pancreatic islet cell tumor and surgery was recommended.  I sought a second opinion from a surgeon who, upon learning a family history of my father having kidney stones and my grandfather dying of complications of diabetes, suggested I might have a disorder called MEN-1.  I also had a history of what doctors thought might be gall bladder disease, as well as persistant lactation since breast-feeding my twins two years prior.  I had never heard of MEN-1 and really just brushed off the idea.  I had surgery a few weeks later and pathology came back as a benign non-functioning islet cell tumor, possibly somatostatinoma due to a mildly elevated level prior to surgery. The tumor was difficult to remove due to its location in the head of the pancreas and I suffered some damage to my bile duct.  This resulted in many years of dealing with pancreatic complications from surgery.

I was healthy but struggled with infertility issues.  In 1998, with continued lactation and an elevated prolactin level, I had an MRI that revealed a small pituitary micro-adenoma.  My husband and I began researching neuroendocrine disease and started to think that maybe I had the disorder.  Additional labs showed my calcium was high-normal, I had a mildly elevated parathyroid hormone, and a bone density study indicated I had early onset osteopenia.  An official diagnosis was made and I was referred to an endocrinologist.  In spite of the diagnosis, I continued to try to get pregnant and suffered two more miscarriages.  At no time did any doctor advise me that my children had a 50/50 chance of inheriting the disorder, or suggest a genetic counselor.  I had one failed attempt at IVF.  After 10 years of trying to have another baby I decided it was no longer a good choice, for me, to have another child that might have MEN-1.  My prolactinoma has remained stable for 17 years and I underwent sub-total parathyroidectomy in 1999.  My levels are rising again and it looks like I will require a second surgery.  I hope to have tissue transplanted into my arm this time though.

I was curious how I had gotten this disease and who had I inherited from – my paternal grandfather’s family was the likely origin but we had no knowledge of this side of the family.  My grandfather died when my father was a young boy and he had no contact with any relatives throughout his life.  When the genetic test became available in 1999, my father and I both tested positive and we strongly suspected his father’s side of the family. It wasn’t until I researched my ancestry and later came in contact with distant cousins that had an obscure illness including parathyroid disease that we knew for sure I had inherited MEN-1 from my grandfather.  So far, I have traced the disease back to my great-great grandmother in Oxfordshire, England and have been acquainted with other relatives who are afflicted.

In 2005 while on vacation I went to the emergency room with severe abdominal pain and vomiting.  The doctor advised me that I had extensive liver metastases.  I was shocked and confused.  I was being followed closely by my gastroenterologist, as well as other specialists, and this was the first mention of cancer.  Six months, three cancer centers, two liver biopsies and one amazing radiologist later, I was diagnosed with metastatic islet cell carcinoma in the liver.  I had radioembolization to the liver in 2007 that reduced the number of tumors and in 2010 I underwent a liver resection that was successful in removing all remaining tumor burden.  I learned last year through a Gallium 68 PET/CT scan that is in clinical trial currently in the US, that I have progressive disease with new tumors in both the pancreas and liver.  My husband and I attend neuroendocrine conferences around the country seeking the newest treatment options and to meet knowledgable and experienced medical professionals.  Our sons were diagnosed gene positive in 2007 and were diagnosed last year via the GA68 study with multiple pancreatic lesions.  AMEND has been a great source of information and knowledge for me over the past several years, as well as a fantastic support system.  It is amazing to meet and share information with others who are also afflicted by MEN disorders.  I feel compelled to become involved in AMEND USA to be a beacon for bringing awareness and knowledge to this disorder. 

[2015]

"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 re-occurring 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.

On the whole my life with MEN1 has been positive.  Although this story illustrates the hurdles I have faced during the 14 years since my diagnosis, I do lead a normal life and hope people can relate to the experiences and circumstances I have faced.  My support networks, particularly my husband and my Mum, have certainly helped me to achieve this outlook and I thank them very much for that.

My MEN1 story began in 1999 when my periods stopped.  My GP did a routine blood test and found that I had high levels of calcium and prolactin.  I had been having awful migraines for a long time, sometimes with blurred vision, but my GP did not know the cause of them and so referred me to an endocrinologist.  Within 4 months of my appointment, I had had an operation to remove 2 parathyroid glands and whilst being discharged from the hospital was given the news that I also had a large pituitary tumour: a macro- prolactinoma.

Everything seemed to happen quite quickly then.  I remember feeling very bombarded with all the big words but I can’t actually remember when I was told I had MEN1.  It was really due to the skill of my Endocrinologist in Hull where I was living at the time to realise that there was a link between high calcium and high prolactin and I am so thankful to him for picking it up and acting on it so quickly.

Through my clinical diagnosis we learnt that it was very likely that one of my parents had the condition.  My Mum’s Dad had died from cancer, and my Mum’s sister had had part of her pancreas removed in her teens but the doctor dealing with both these cases hadn’t realised that there was a link.  If he had, he could have warned the family of a possible link to the genetic disorder.  I was 20 when I was diagnosed and my Mum was in her late 40’s.  It had been in the family for a long time and no-one had suggested that all the relatives be screened.  We felt lost, annoyed and upset.

My Mum went through similar tests to me: rigorous blood tests, MRI scans, CT scans, visual fields tests and so on.  The family had genetic testing to find out that not only did we both have the faulty gene, but that my brother and sister have it too.  Mum felt guilty but it simply wasn’t her fault.  Counselling would have been helpful but, laughably, our genetic counsellor asked us: “What is MEN1?”

After the initial shock and upset we gained enough strength to allow us to not let the condition get the better of us, and started up AMEND.  Through trying to help others we helped ourselves in coming to terms with and understanding our own condition.  We worked hard to make sure our bodies were healthy and sought the best treatment possible.  We tried to unify our problems so they didn’t seem so bad individually.

I have treated my prolactinoma ever since its diagnosis with the controlling drug, cabergoline.  Although there have been ups and downs with its shrinkage, the prolactinoma appears to be stable for now and is checked regularly.  I did get some side effects from the tablets, such as depression, but a slight reduction in the dosage seems to have helped.  Surgery may be an option for the future but I’ll face that when necessary. 

A routine MRI scan in 2003 showed up 2 tumours on my pancreas and after an endoscopic ultrasound this was found to be 4: one in the head, 2 in the main body and 1 in the tail of my pancreas.  I had the whole of my pancreas removed in Leeds in November 2003 and became diabetic overnight as a result, so I now have to try hard to keep my glucose levels in balance.  The histology in fact reported 97 tumours across my pancreas although mainly they were very small.

I got married in 2004 and I found it was great to have this as a focus to get better for following my pancreas surgery.  I was determined to be fully back at work, recovered and ‘back to normal’ (if there is such a thing) as quick as possible.  Soon after this, my husband and I began to think about having children.  We spent many nights discussing whether to try naturally, opt for pre-implantation genetic diagnosis (PGD) or decide not to have children.  We did much research into PGD (which is a bit like IVF but where they only replace fertilised eggs which don’t have the genetic condition) but decided that due to both the expense and the stress that would be put upon us through the process it was not for us.  As we both wanted to have children we decided to go down the natural route and take the 50/50 chance.

It was a roller-coaster ride!  I guess I was pretty much focused on trying to get pregnant at this time and my mind wasn’t really thinking much about MEN1 specifically but was more focussed on getting all my body functioning properly ready for pregnancy.  Between 2005 and 2008 it all seems quite a blur.  At some point I had an abdominal scan which showed up a ‘shadow’ on my liver but as I didn’t have my MEN1 passport at the time I don’t seem to have recorded this in my note book that I used.  We were back and forth to clinics having tests for fertility levels and I was about to have fertility treatment when I got pregnant.  Unfortunately I miscarried in Nov 2007 but quickly got pregnant again in Jan 2008.

I was told to maintain very strict sugar levels prior to conception and during my pregnancy which was made slightly easier as I was now using an insulin pump rather than pen injections.  We had to also think about whether we would have the foetus tested at 11 weeks for the MEN1 condition and then what we would do if this was positive as they could offer a termination at this point.  We decided that leaving things to fate was what we wanted.

Being pregnant with diabetes and MEN1 was hard work!  It felt like I was constantly at appointments.  Unfortunately my prolactinoma enlarged so I couldn’t stop my cabergoline which meant I wasn’t able to breastfeed which was a bit upsetting.  Being diabetic meant that I was booked in to be induced at 38 weeks and that I was more likely to have a large baby.  This turned out to be true when Matthew arrived early at 37 weeks 5 days on 3rd September 2008 weighing in at a healthy 9 pounds 5 ounces!

Unfortunately being pregnant didn’t seem to help my body!  In 2009 when I got back into regular appointments for MEN1 my PTH had elevated so I’ve been under the watchful eye of an endocrine surgeon in Leeds, as I may have to have my remaining parathyroids out as some point.  My calcium still isn’t very high 4 years later but has slowly been creeping up but apparently being Vitamin D deficient may be masking my true calcium level: hopefully Vitamin D tablets will sort this out.

What was first described as a shadow on my liver was now definitely a small lesion.  After some watching and waiting as the tumour was described as ‘slow growing’ I was referred to the liver specialists.  Following a negative octreotide full body scan later, and numerous CT’s, ultrasounds etc 3 tumours now seemed to be appearing and there was much debate as to what to do.  Radio frequency ablation was what I was initially geared up for (which is where they blast the tumours with heat waves through a long needle).  But further deliberation from the Multi Disciplinary Team suggested surgery as the preferred option.  So I had a right hemihepatectomy (the right 3rd of my liver removed) in March of 2010.

The histology report showed that the surgery was a success in that 2 tumours, and what they thought was a third tumour but which turned out to be a dilated vein, had been removed.  However, it also revealed that they were metastatic neuroendocrine tumours (carcinomas) and most likely tumours that had spread from my pancreas.  I have been going back for CT scans of my chest, abdomen and pelvis every 6 months for the first 2 years and these thankfully have all been clear and now go once a year for the first time in July.  I am doing my best not to think any further about the ‘what if’s’ and potential for more spread or surgery.

My second son Oliver was born in November 2011 and now my life revolves almost completely around my two boys and my husband!  But all that effort and hard work in pregnancy was worth it!  We haven’t dared get the boys tested yet and if either of them do have MEN1 I am going to feel very guilty and dread the day when they can ask ‘Why did you make the decision to have us knowing you could pass it on?’

I have sometimes found it hard to deal with all that has been thrown at me but I have always tried to look to the future and have plenty of little, manageable goals to achieve.  Silly things like, making sure I get to a concert if it’s something I want to see or booking a holiday.  I thank all the team in Leeds for their support and particularly my consultant who loves it when I arrive with my long list of questions!  I can’t state how important my husband, friends and family have been as they can keep me going when I don’t quite feel 100% and they accept me as I am.  Sometimes I do wish I didn’t have to burden them with my health problems but I know they wouldn’t be there if they didn’t care.  Having my two sons has made me think about what’s important in life and to make sure I pack in as much as possible.  Most of the time MEN1 takes a back seat and allows me to get on with my busy but happy life – lets hope it stays that way for many more years!! 

[1999-2013] 

Funnily enough, my story ‘began’ in 1992, but I didn’t find out I had a story to tell until about 6 years ago, 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 neonatal 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 so 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 5 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 as long as I can – 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 81 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.

During these last few years 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 recently, did some 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 a couple of years ago, 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 was nominated and accepted as a trustee for the Charity and help to 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 the charity.

[2013]

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.

[2012]