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 MEN2A 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
“Do you believe you can fly?” asked the community psychiatrist.
If I didn’t have my head over a bucket puking up the nothing I had eaten for weeks, I would have made HER fly – right out the window – for asking such a stupid question. Wearily I shook my head. Couldn’t she see that I was ILL?
It was the year 2000, and for weeks now I had been retching and vomiting, unable to keep even water down. I had been suffering episodes of severe ‘migraine attacks’, palpitations and breathlessness off and on for 4 years since the birth of my first child, but now they were ever present and significantly worse. My family doctor was insistent, despite my protests, that the attacks were due to postnatal depression and had prescribed a cocktail of drugs to no avail. It seemed the antidepressants and sleeping medications were making things worse and I was now desperate.
“Do you want to harm yourself?” the psychiatrist persisted.
A sensible question at last! All I could manage was to nod pathetically into my bucket. Suddenly, urgent phone calls were made: to my husband to check if I had private health insurance; to my family doctor; to a psychiatric hospital.
“They can take you tonight, it’s all arranged” she said. I could not have cared less anymore.
My husband, Alan and my mother, Janet, carried me almost unconscious into the psychiatric hospital. This quiet unassuming place was to be my saviour. After 4 years of pain, it was now a matter of days before they had diagnosed a large adrenal tumour (NOT post-natal depression). The tumour (a phaeochromocytoma) had been causing my blood pressure to reach immeasurable heights and had put me at serious risk of stroke and heart failure. In fact, the surgeon who finally removed it hadn’t seen anything quite like it for size and activity (probably because he doesn’t perform post-mortems).
Once again, things began to move fast. Within the space of the next few years I was genetically diagnosed with multiple endocrine neoplasia type 2a (MEN2a), along with my mother and my then 2 ½ year old son; I had both tumour-containing adrenal glands removed along with my cancerous thyroid, as did my mother; and my son had a prophylactic removal of his thyroid to avoid developing thyroid cancer.
I do relatively well now, on a cocktail of different drugs, and am regularly monitored for optimum doses and disease recurrence (which resulted in the replacement of one of my shoulders in 2007 due to a thyroid cancer bone metastasis). My son is closely monitored for signs of phaeochromocytomas.
As you might expect, primary healthcare is one area of concern for me for patients with rare diseases like MEN and Phaeo Para; particularly regarding diagnosis. The specialist UK NHS hospital team were fantastic throughout, confirming the need for rare diseases like MEN to be managed in an expert multidisciplinary setting.
I had so very nearly died and this would have left 2 very young children motherless. The thought of what could have happened still haunts me today.
[Jo is now the CEO of AMEND and Phaeo Para Support UK]
My name is Danielle and I live with a rare genetic cancer syndrome called Multiple Endocrine Neoplasia type 2a or MEN2a for short.
I started getting symptoms aged 21. Out of the blue I would have these episodes where my heart would start to race, I’d feel nauseous, go deathly pale, lips would be blue and I would go very weak in the limbs. It could last anywhere from 30 seconds to 5 minutes and as time went on the episodes occurred more and more frequently. My doctor thought I was having panic attacks but I knew it was something physical. After a lot of appointments where I would push for another explanation, he finally sent me to a cardiologist. The cardiologist did a few tests and told my heart was fine but he said that I may want to test my adrenal glands. When I asked why and how the test was done, I didn’t like the answer so I didn’t take it any further nor did my GP follow me up on it. I put up with these episodes for the better part of a decade.
When I was 31, in 2004, I had just started dating my now hubby when we received a call from my Aunty in the UK. She had been struggling with breast cancer for years and had some devastating news for our family. During all of her testing, it was revealed that she also had a very rare form of thyroid cancer which was genetic and part of MEN2.
When my parents sat us down explained this to us and told us we were all to be tested for the gene, I knew immediately that this was what was wrong with me and I was actually relieved to finally have some answers but I also had a sudden pang of guilt as I remembered the cardiologist words from years earlier that I had ignored.
Testing started with my dad, because if he didn’t have the gene, none of us could. Children of the gene carrier have a 50/50 chance of also carrying the gene. I chose to test at the same time as my dad because the results took up to 6 weeks and I knew in my heart that I would have the gene. We both came back positive as well as my younger brother came back positive as well. 2 out of 4 kids had the gene.
Due to the nature of the thyroid cancer, all carriers have their thyroids removed at a young age as a preventative strategy. By this stage, my aunty, being undiagnosed for so long, had already developed metastases in her lung and bones. After surviving breast cancer, this was a terrible blow for her.
My dad and I began the barrage of tests to determine the extent of the disease. We both tested positive for MTC and also for adrenal tumours. My dad’s surgery on his adrenal tumour was scheduled first. Mine was to follow a few weeks later. The surgery itself has it’s complications as even the general anaesthetic can kill you if you have an adrenal tumour. The necessary precautions were taken and even so, my dad died and was revived 3 times on the operating table. By some miracle, doctors managed to save him and he is still with us today.
I was up next to have my right adrenal removed. My left gland looked clear at this point. Funnily enough I wasn’t worried about the surgery, more so about the recovery as I had never had major surgery before.
Four weeks after the adrenal surgery we were scheduled to have our thyroid surgery. After the surgeries, the biopsy results came back. My dad, myself and my brother, were all confirmed to have medullary thyroid cancer (MTC). They also removed our parathyroid glands and many lymph nodes in the surrounding area to be sure to remove all cancerous cells.
Normally in a healthy person your thyroid makes the hormone thyroxine which regulates the metabolic rate so from here on, I was to take synthetic hormones to replace those made by the thyroid. I also had my Parathyroid glands removed which regulate calcium in the blood and bones so I am now dependant on calcium tablet and also have to have bone density testing on a regular basis to monitor for osteoporosis. Luckily at this stage I still had one adrenal gland left, which should pick up the slack of the missing gland because you really don’t want to lose both of those.
I have to say that my hubby and I had only been together about 2 months when all of this came about. He was honestly an absolute blessing. I was still in the honeymoon phase of love and this took up more of my attention than the cancer.
After these surgeries, we were all in the clear (so to speak) and just had to have 6 monthly / annual tests for the rest of our lives. After everything died down, hubby and I married. Sadly, after trying to have a baby for quite some time, it was discovered that we needed help. In order to be approved for IVF, you need the all clear from any cancer for 5 years. I had the necessary testing and got the letter from my specialist to say I was good to go. In 2009, we had our first egg retrieval and I almost died of a massive internal bleed. I had no idea at the time what had caused it and neither did the doctor. Luckily I recovered and after 2 rounds of IVF we fell pregnant with our first child. When I was 3 months pregnant, we moved to Western Australia. When I was 6 months pregnant, I felt a lump in my neck. After Jacob was born, I started to get the heart palpitations again.
When Jacob was a couple of months old, I began the testing; CAT scans, ultrasounds, blood tests. The thyroid cancer had spread to a lymph node and it was decided that I undergo what is called a radical neck dissection whereby all of the lymph nodes in the neck, shoulder and chest area are removed. I had no idea at the time, how invasive this surgery would be.
My blood tests were also showing signs of another adrenal tumour. The doctors were pushing me to have a highly radioactive scan called an MIBG. The half-life of the radio-isotope they inject into you for this scan was 6 months which is huge! When the doctor sat me down and I was told I would have to stop breast-feeding my baby in order to have the scan I broke down in his office for the first time since this all began. I could not believe that this was being taken away from me. I held my 3 month old baby in my arms and told the doctor to go to hell.
I know this sounds completely mad now, but at the time, the most important thing in the world to me was to feed my baby. I refused the scan, refused the medication to prevent a stroke or heart attack from the adrenal tumour and continued to feed my baby. I think I was in denial. I put my head in the sand for another 2 months. During these 2 months I Googled and Googled, looking for a way to have 2 major surgeries, a radioactive scan, and also to keep feeding my baby. All the while I was creeping out of bed at 2am, expressing and stockpiling milk, so subconsciously I guess I knew what I would have to do in the end.
I went ahead with the scan when Jacob was 5 months old. I was not allowed to pick him up or cuddle him for 3 days as I was too radioactive. The scan revealed another adrenal tumour on the other side. This explains why I had almost died during a simple IVF procedure. Any surgery performed with an adrenal tumour can dangerous so I was very lucky looking back. I flew back to Sydney for my next round of surgeries as I had a lot of faith in my medical team and didn’t want to go to anyone else. The 2nd adrenalectomy would mean that I would be steroid dependent for the rest of my life. Adrenal glands produce hormones that are vital to life, such as cortisol (which helps regulate metabolism and helps your body respond to stress) and aldosterone (which helps control blood pressure). They also produce adrenalin in response to stress and regulate the balance of salt and water in the blood.
I now had what they call surgically induced Addison’s. I would have to carry an emergency injection kit with me wherever I go to be administered if I am injured, sick, in shock or unconscious etc. The adrenal glands are a pretty vital organ and losing both was something I was very worried about. My beautiful Aunty from the UK offered to fly over to Australia to help me through it. She lost her battle with this dreaded cancer earlier this year so I deeply regret knocking her back on her offer as I would have gotten to see her one more time.
The recovery was difficult but 4 weeks later I went in for my radical neck dissection. This was the most horrific operation I have ever experienced (and I have had 6 surgeries including 2 C-sections). Due to the fact that they cut through nerves, I lost all surface feeling from my cheek, chin, down my neck, out to my shoulder and my ear, as well as all around the back of my head and down my shoulder blade. I still do not have all the feeling back to this day although it has improved somewhat I can’t carry my handbag on that shoulder. The worst part was when my baby tried to put his little arms around my neck. I couldn’t feel his little hands on my face.
As a first time mum with a new baby, I was very angry. I felt ripped off that I wasn’t allowed to enjoy just being a mum. I would look at him and wonder if I was going to be around to take care of him. I was stressed out that I might never be rid of this thing as well as worrying that I had passed on what I had to my baby.
Looking back on this I feel very lucky to be alive. I was told that only one of the 100 or so lymph nodes they removed was cancerous so I had some chance that I won’t have metastases down the track. I was originally told that metastases were inevitable so this was great news.
After the 2nd round of operations, I had about a month to recover and then stupidly went all out undergoing IVF again in the hopes for another baby. I did not give my body enough time to heal completely as all I could think about was all the time I had wasted having surgeries when I should have been doing IVF. The first month of IVF failed. The second month failed. The third, fourth and fifth and sixth month failed. The seventh month we decided to transfer 2 embryos which also failed. At this point I had one embryo left. We were out of money and my husband was out of patience. I was getting desperate. I decided to undergo an elective D&C. I started to see a natropath, I drank brown goop every morning and I underwent acupuncture. I also prayed as hard as I could and I basically begged God to let this last attempt work. When I received the phone call from the clinic to say that my pregnancy test came back positive, I literally dropped to the floor in a blubbering mess.
I now have 2 beautiful boys and both have been tested for the gene. Jacob was tested at 2 years of age and came back negative. Nate was just recently tested and recently we got the amazing news that he too is negative. I have to say we were offered genetic selection at the IVF clinic but declined. I do not think we would have any children today had we thrown away 50% of our embryos.
I am now on a concoction of medication for the rest of my life. I have to carry an injection kit everywhere I go. My mood, weight, mental wellbeing is all regulated by pills, but overall I am in pretty good health. I keep fit and am happy and have a very optimistic outlook on life. I can eat all the salt I like and I may not be able to go to Bali without all the drugs but at least if I go up to the ER I am always fast-tracked! I find getting out of bed every morning particularly hard as I am running on empty by the time I wake up and have to wait for my medication to kick in whereas normal people would have a rise in cortisol from about 4 am so that it is peaking upon waking. But I am grateful that I get to wake up every morning: each and every day.
My latest blood tests indicate higher than normal traces of calcitonin, suggesting microscopic cancer cells still remain in my body. There is nothing I can do at this point but wait. This is not an aggressive cancer in that it is slow growing but once it takes hold, there isn’t a lot you can do other than surgery. There is no cure yet for this type of MTC. They can manage it and at best try to prevent it from spreading, however this type of thyroid cancer does not respond well to radiation or chemotherapy. The reason for this is because chemo attacks fast growing this has a slow growth rate and it won’t work.
Unfortunately, my dear Aunty lost her battle this year from lung and bone metastases. I am forever grateful to her for discovering the gene which gave us all a fighting chance. I am so grateful to be here today. To have an adrenal tumour for 10 years and come out the other end pretty much unscathed is nothing short of a miracle. I could have had a stroke, heart attack or died at 21, but I didn’t.
Take home lessons: If any of you are putting off going to the doctor about something that may scare you or sounds unpleasant. Just think, maybe it’s not just you that this may affect. Maybe your early detection of something will help out another family member. Had I gone ahead with the adrenal test when I was 21 would my aunty still be here today? I don’t know & I don’t like to think about it but I definitely stay on top of all my appointments these days and I urge everyone here to do the same.
Do you know why you have a thyroid? Do you know what it does? Do you really need it? Where is it in your body? I did not even know the answers to most of these questions either. I just took my thyroid for granted, until I had to let go.
Where shall I begin this story of mine? From the beginning I suppose. Well, my name is Ashley, born on the hot summer night of August 30th. I was pretty normal kid growing up, despite my mom telling me I was adopted or switched at birth. At one point I was told I was lactose intolerant and had to endure Lactaid pills with every bowl of ice cream with my siblings. But I was overall a compassionate, naive, jovial, and easily distracted, kid (according to my mother).
Fast forward to 2011 when I was still 19. It was beginning of the year, while I was with my grandmother at the temple. It was cold and we were by grandpa’s brand new van. While I was fixing my veil, my hand ran across the protruding lump on the left side of my neck. I remembered seeing it many times while getting dressed in the morning, but never thought much of it. I always thought my grandma was a wise woman, knowledgeable in experience, so I showed it to her and asked if she knew what it was. She ran her aged fingers over it softly and told me, “Show your mom, she’s the nurse.” My grandma knows me all too well and how forgetful I am which is why, not even 5 minutes after I got home from the temple, she called my mom and told her about it. Mom inspected my neck and made an appointment with the doctor. I did not think that day would be as memorable as it is to me now, besides the fact that I got to drive grandpa’s van.
At the appointment, my doctor felt the lump and around it, then concluded that it was in my thyroid and referred me to an endocrinologist. I went home and opened up my computer and textbooks, looking up the thyroid. All I knew was that it released hormones in the body, but that was it. I looked up lumps, goiters, and everything that I could.
When I saw my endocrinologist, Dr. Hetnal, she ordered some blood tests. Between then and now, I believe I’ve given enough blood to save a few lives, but I know I did it to save my own. My hormone levels were fine, but antigens were a little high, so we figured it was an autoimmune disease. She then ordered a biopsy, which came back a little scary and unclear. The entire pathology team could not agree whether it was malignant or benign, or if it was a tumor from the liver. She had me give another vial of blood and said to come back in a week. But instead, 2 days later, on May 26, her assistant called and asked, “How fast can get here today?”
I met my mom in the lobby and we went to the office. Dr. Hetnal was giving up her lunch hour to see me, so that alone scared me. She explained the last test was a calcitonin test. Calcitonin is released from the thyroid to help regulate calcium in the body. The more calcium in the body, the more calcitonin released to even it out, and vice versa. The normal range is 5 or less. I had 3,804. I was officially diagnosed with medullary thyroid cancer.
I went home with a print out from the Physician’s Desk Reference on MTC. It was a tumor in the C-cells that release calcitonin, hence the high numbers and assumption of lactose intolerance. I also went home with a tired and sick body from the giant bottle of barium I had to drink for the quick CT scan the radiologists were kind enough to perform. I woke up the next day with, not an upset stomach, but extremely livid one, and looked up MTC. The results were scary, telling me I was going to die in 3 months, or I will never be happy again, or that it will spread throughout my body. I shut down my computer then and there, and decided I had enough for the day.
A few weeks later, I got a call from Dr. Gosnell, one of the endocrinologists and surgeons at UCSF. I went to the consultation, where I learned she does several thyroidectomies every week. Her nurse, after hearing my internet scare, made me promise I would not check any other websites except ThyCa or AMEND. THYCA, I learned, was an organization for thyroid cancer patients and survivors. To this day, I’m so happy I’m a part of them. AMEND was an organization for patients with hereditary endocrine cancer. I learned I have MEN2A, a mutation which is one of the causes of endocrine cancers. Joining them too reminds me that I’m not alone.
Anyways, Dr. Gosnell scheduled my surgery for 6:30am on Tuesday, July 12th. The weekend before surgery, my sister stayed at grandma’s while my parents and I stayed at a hotel by the hospital and explored San Francisco. Monday night, I went to a Pre-Surgery Preparation class to ease my nerves (it failed), then spent a sleepless night in anticipation. The next morning, at 4am, I took my shower and got ready for surgery. I will never forget after my surgeon came to see me before surgery to discuss what was happening, and as she left, my dad shook her hand, tears in his eyes, and whispered, “take care of my baby please.”
Surgery was successful: a total thyroidectomy with central lymph node dissection. I went home the next day, and it took a few weeks to a month for my mom to finally tell some close family (grandma and her sister) what really happened. It was an emotional ride from there to now, mainly due to my body depending on pills to function. I have my occasional rants and my roller coasters too, but in the end I know I’ve become a stronger person. I won’t let my cancer define me, but it has become a big part of me. So that is why I wear my scar with pride, my THYCA colors in awareness, and my butterfly necklace in signification of my lost friend, my thyroid, the butterfly gland.
[Ashley’s story has also been used by ThyCa.org.]
Patient Experience Videos
Come and meet Liz, Laura and Mandi and hear their experiences of diagnosis and treatment in MEN2A, as well as how they feel that their disease may affect their futures. Huge thanks to Liz, Laura and Mandi for participating in this project!
The following videos were produced Red Goat Productions thanks to a grant from Ipsen, and launched in September 2021.
Living with MEN2A - Diagnosis
Living with MEN2A - Treatment
Living with MEN2A - Future