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 MEN2B that different people experience. 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
Well, where do you start with something you’ve had for over two thirds of your life?
I am now 32 and was diagnosed with MEN2b when I was 10. It was Christmas time and we were visiting my grandparents in Adelaide (South Australia). My Grandma who was a nurse by training noticed that there was a lump at the base of my neck and thought that Mum and Dad should get this checked out. When we returned home to Canberra, it all became a bit of a whirlwind. After seeing an endocrine specialist, the diagnoses came incredibly fast and, within two weeks, we were driving up to Sydney to a big hospital there to have my thyroid removed as it was cancerous. I still remember the look on my parents faces as the doctor told them about MEN2b. I wasn’t scared but I knew that it was serious from their expressions. I just remember saying that I didn’t want to be different from the other kids at school and asking whether I would need to tell people about the medication I’d have to take afterwards. It’s funny the things kids worry about but they also take things in their stride and I sometimes think the whole MEN journey has perhaps been rougher on my parents, and now also on my husband, than it has been on me. It’s a day-to-day thing for me, just a case of getting on with life while trying to make sure that my medical condition is managed and gets in the way as little as possible. They imagine the worst and I see the worry that it causes them.
My family were all tested to see whether or not my condition was hereditary. It turned out that it was not and that I had a spontaneous gene mutation while the rest of the family were clear. When my Grandma heard about all of this, she said that, if it had to be that I had this condition then she was relieved at least to hear that my condition was so rare and also that it was unlikely to affect anyone else in the family. She wisely pointed out that, if you have to have an illness, you get far better attention and care from the medical world if you have something rare which they don’t see 10 times a day
After my thyroid was removed there was a 2 year lull. My calcitonin levels were stable and it looked like they had removed all of the cancerous cells. But then the count started to rise very slowly – enough to know there must have been a couple of renegade thyroid cells hanging around somewhere but not big enough to be found. And so life went on much as it had before the operation but just with a yearly bunch of tests and a visit to the local endocrine unit. I’ll always feel eternally grateful to Fred Lomas (endocrinologist) and Janet (endocrine nurse) for their kindness and ability to make my yearly visits to them feel more like a visit to aunts and uncles than one to a medical institution.
Don’t get me wrong, having the condition had its ups and down at this time. I remember my first 24 hr catecholamine urine test. I was so upset at having to do this that I refused to drink any liquids and managed to wee only half a cup over the whole 24 hours to my mother’s despair, and the ensuing tantrum I threw when told that I had to do the test again.
I’ve always had lumps on the inside of my mouth and big lips (the classic MEN2b smile), but then that was just me, the way I looked. I was teased of course for it at school but then kids can be cruel and always find reasons to tease, and I’m sure that I was no kinder to my class mates than they were to me. Now that I am an adult and my face has grown proportionally to my mouth, I don’t mind my lips being how they are and it’s true to say some women pay a lot of money for lips like mine.
I did however by the time I was 18 have surgery to remove many of the larger nodules in my mouth since they had grown so big that I would bite them off accidentally, or they would catch on my teeth braces which got quite painful.
At 19 I had just finished high school and was busy juggling part-time jobs, saving up to go travelling in Europe during my gap year. Before I headed off, I went for the routine tests but there was a hitch: the doctors finally located a bunch of the renegade thyroid cells in the lymph-nodes on the left hand side of my neck and surgery was called for. I remember feeling incredibly inconvenienced but also relieved that, if these were the only cancerous cells left and they were removed, this could be the end of the cancer. I booked my ticket to go overseas and worked up until the day before the surgery. I think I underestimated how incapacitating a ‘T-section’ (removal of lymph glands) could be. For years after the surgery, hailed a success by the surgeon, my neck was wracked with pain as the nerve-ends re-grew, making me feel as if a thousand ants were biting me up and down my neck. However, I felt determined to get away and, six weeks after the operation, I headed overseas. I had to wheel and drag my backpack as my shoulder could not bear any weight. .
After 8 months of backpacking and working in the UK and Europe, I returned home to stay with my parents, save up again, and undergo another set of tests. Sadly, although the surgery had brought down my test readings, it hadn’t solved my problem entirely, and we were back on the track of those renegade cells. At this point I headed off from home in Canberra to Sydney to pursue my adult life and my dreams of becoming a costume designer. I transferred my medical care to the Royal North Shore Hospital under the care of Dr Bruce Robinson, Australia’s leading authority in MEN and a truly excellent doctor. I spent the next four years in Sydney working in the film, television and theatre world as a costume maker, with bouts of travel between contracts. Bruce regularly monitored my condition and was always willing to be flexible with appointments to minimise their interference with my work. A couple of years into my time in Sydney, my test readings suddenly started to rise again which was quite alarming as I’ve always felt quite blessed to have what I call the laziest cancer ever. It appeared that, instead of hanging around in my neck area, some of the cancer cells had jumped to my liver and suddenly decided to grow there like crazy. So it was another stint in hospital, this time to remove half my liver. Livers are amazing organs as they are almost the only organ of the body which grows back. Within six months, my liver had restored itself to full size and function, minus any cancer.
After this operation though, something had happened to my digestion. I felt continuously full and bloated, with waves of nausea and constipation. For a long time I hoped that this state of affairs would get better with time and that the symptoms were perhaps part of recovering from liver surgery. I restricted what I ate and ended up eating almost entirely tomato soup, tabouleh and porridge. It’s funny the way humans can become accustomed to things and simply accept new routines as normal. About a year after the operation my Mum talked some sense in to me and finally persuaded me that it wasn’t acceptable to live on a diet of puréed food. When I got back, I spoke with Bruce about my symptoms and that these were not getting any better. After visits to dieticians and various tests, it turned out that I was suffering from acid reflux and I was put on drugs to regulate the acid build-up in my stomach. It was the most amazing thing. Suddenly I could eat again and not feel sick all the time. At the time, I blamed this tummy trouble entirely on the operation. In recent years when my tummy complaint rears it ugly head again as it does from time to time, I learn more about MEN. It seems likely that the nodules in my mouth extend throughout the digestive tract as well and that they are probably the cause of these symptoms. Nowadays, indigestion is no longer too much of an issue so long as I generally stay away from highly processed foods, drink loads of water and take my medication daily.
Over the years different things have popped up. Irritatingly, my back goes out regularly,
I get massive blisters from all new shoes, funny little growths on my eyelids and so on. I thought all of these things were just me but, the more I read up about MEN2b, the more I come to realise that these symptoms are simply other expressions of the condition. In the end, the condition has not stopped me from living life as I want to so much as forced me from time to time to take a different route.
After 4 years of working crazy hours in the costume business, I decided that, amazing as this had been, the time had come to move on. I resolved to move to Melbourne and to enrol there in a BA in Photography. On moving I had to find myself a new endocrinologist. I will not mention the name of the first endocrinologist I found but I say only that, after many years of brilliant medical care and advice, I found myself with a person who managed to misread a scan and inform me that my liver was riddled with a new cancer. As I started to get my head around this news he then informed that he had got it all wrong and that what he had thought was cancer was actually only scar tissue. Oops, silly him!
Needless to say, I moved endocrinologist and ended up with the excellent Warwick Inder. For the next 3 years, life just plodded along with 6 month to yearly check-ups. No signs of movement on the cancer front except for a couple of small lymph nodes on the right hand side of my neck which we decided to leave until they had become bigger before thinking about surgery as my test assays had stayed pretty stable. As Warwick said, why have invasive surgery before it’s necessary. At the end of the three year degree, I married my amazing husband Martin, a Swede and fellow student on the photography course. Martin at this point wanted some time closer to his family in Sweden and, since my Swedish was not yet up to my working there, we compromised on London. This allowed us to move closer to
Sweden and also offered a lot more scope for our work as photographers.
It’s been a really amazing leg of the journey my time in London. I first visited the UK when I was 7 and then again when I was backpacking at 19. This time I’ve ended up staying for over five years. It’s a country I’ve always felt relatively at home in, maybe partly because my father was raised here. There are many aspects of the culture which are so similar to Australia’s but others which are very different: often in the most subtle of ways. As an Australian citizen we have reciprocal arrangements for health care with the UK and I feel very grateful that this is the case as this has given me the opportunity to be able to live here. The work here has been amazing and I have made friends who, I hope, will last for life. With regard to medical care though, it has given me endless frustration, with lost files, doctors not introducing themselves, random letters that inform me of unexplained appointments, missing consultants and inexperienced replacement Registrars. I have had an operation scheduled and then cancelled without anyone informing me and letters in the mail which told me of quite distressing diagnoses without giving any real explanation but with weeks to wait before my next appointment.
Perhaps I have just been very unlucky, but it seems from my perspective that it is a system that has forgotten that we are people and not simply case studies. Please, don’t misunderstand me. I’ve met along the way some brilliant individuals working in the NHS. But on the whole I’ve found the experience distressing. I’m used to working with the medical team on my case and not, as I feel here, finding myself constantly at odds with them. I have to say though that the surgeons I’ve had here have been really excellent. I’ve had two operations in the UK, one to remove lymph nodes from the left hand side of my neck. Within 6 months my left hand shoulder was already working better than my right hand shoulder does ten years later. I’ve also had my adrenal glad on the left hand side removed with key-hole surgery. The recovery was extraordinary fast. Within a week of surgery I was out of the hospital and out of the house looking for a new flat, and within less than a month I was back at work.
During my time in England I also feel very lucky that I have come into contact with AMEND. The advice, support and boundless energy of Jo and Janet has been truly inspiring. Before last year I’d never met anyone else with MEN. It’s an amazing experience to see the MEN2b condition, my condition, in other people’s faces and to hear their, sometimes so similar, experiences. It is a bit like meeting relatives for the first time.
So what of the future? At this point it looks like there’s a pheo in my second adrenal gland. That will need to be removed later in the year. And then in the not so distant future my husband and I will start to ask the question of whether we are comfortable passing this on to another generation.
I feel grateful that I’ve lived in a time and in countries where MEN is part of my life but it has never defined me. It has made me value the things in life that I do have. I have been able to first and foremost live my life.
VIDEOS: MEN2B AND ME
The following films were produced in early 2019 to raise awareness of MEN2B, to encourage earlier diagnosis, and to inform and support other families affected by the syndrome. We cannot have achieved this work without our incredibly brave film star volunteers – and they are all that – stars!
Funded by AMEND and a grant from The Society for Endocrinology.
MEN2B and Me: Asher
MEN2B and Me: Ethan
MEN2B and Me: Kristina