Association for Multiple Endocrine Neoplasia Disorders

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]