Association for Multiple Endocrine Neoplasia Disorders

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]