MTC-Hereditary MTC Stories
Mike’s 634 Story — The Three PackBy Michael D., 2007
In late May 2004, I had what was perceived to be a cardiac incident. I awoke that day not feeling well and checked my blood pressure, which I did regularly. My blood pressure was 220/120.
By the time I got to my family practitioner, he was convinced I was having a heart attack. Off to the emergency room I went, where I spent nearly 3 days being checked extensively for cardiac issues. The doctors were baffled because I was at an optimal weight, was not diabetic, and had excellent cholesterol levels.
The only odd thing they noted was that my calcium level was slightly elevated, which it had been for several years. The cardiologist could not be 100% certain there wasn’t a blockage unless he did an angiogram. Having dealt with bizarre symptoms for more than 20 years, I decided to pass on having the angiogram but to finally find the answer that had eluded me and doctors for more than two decades.
During this hospital stay, my wife and I began calling friends in the medical field and sharing my bizarre symptoms with them. One friend, who is a nurse practitioner, said my symptoms sounded like textbook symptoms for pheochromocytoma. I mentioned this to the doctor in the hospital and he said I didn’t fit the profile since those folks “are wired out of their mind.”
I mentioned that I was always “hyper,” but he replied this was probably just my personality. He did decide to run a test for hyperparathyroid disease, assuming that the high calcium, and perhaps some of my other symptoms, were being caused by this. He told me that the results would not be back until long after I was discharged, but that I should make plans to see an endocrinologist.
We were referred to an endocrinologist by my family practitioner. As we waited for that appointment, we did our own research. I became quite educated about parathyroid disease and pheos. While the rarity of the pheos seemed to make them an unlikely candidate, I was convinced this was the issue.
All the research I did gave validity to the symptoms and spells I had battled for years and which had been dismissed by doctors as me being “high strung, probably borderline hypoglycemic, and under a lot of stress.” This was the story I received over and over for years.
When I finally did get to see the endocrinologist, I mentioned to her that I would like her to test me for pheos. She laughed and said, “you MBA types always like to tell doctors what to do. I would run that test anyway but don’t worry, it will come back negative.” Meanwhile she did note that I was probably suffering from hyperparathyroid disease and possibly a thyroid issue as well, since her initial physical exam and ultrasound highlighted some irregularities.
A battery of testing began: Ultrasounds, Nuclear scans, CT scans, Sestamibi scans, fine needle aspirations (FNAs), 24-hour urine, and more blood tests than I had ever thought possible.
When the 24-hour urine test came back showing extremely high levels of catecholemines, epinephrine, etc., my endocrinologist was in shock, but now realized that the other pieces of the puzzle were painting a picture of multiple endocrine neoplasia, type 2A (MEN 2A).
As we waited for the results of the FNA, she did a genetic test for MEN 2A. Needless to say, it came back showing I had the 634 mutation. I had also received what I refer to as “the three pack” of diseases: hyperparathyroid disease in all four glands, bilateral pheochromocytomas, and medullary thyroid cancer.
My parents were then tested, and thankfully they were both negative, as were my older brother and his children. My sister refused to be tested, but with both my parents being negative that was probably acceptable.
I was listed as having a de novo mutation, and the surgery schedule unfolded. First up was to get rid of the pheos. By this time I had MIBG scans and CT scans showing very large masses on my adrenal glands; this would be the first surgery. Because of the 15 cm size, the surgery could not be done laproscopically. I was informed that these were some of the largest pheos the specialty center had ever seen. My own research validated that having bilateral pheos of this size and still being around to talk about it put me in a very unique, and, in my view blessed, category.
A regimen of drugs was begun to get me appropriately “blocked” for the surgery. Essentially what they do is open your vascular system way up using drugs so they can regulate blood pressure during surgery. One of the challenges with pheos is the extreme variations in blood pressure that can be seen during surgery.
It took nearly 3 weeks and more drugs than anyone anticipated to get me sufficiently blocked. Then on July 24th, 36 hours before the surgery, I was admitted to the hospital and they began to fill me with fluids via IV. They now needed to fill the volume of my open vascular system with fluids. I have never urinated so much in all my life.
The surgery to remove the pheos involved cutting me open below my rib cage completely across my mid-torso. I guess during surgery I gave them quite a scare as my blood sugar dropped to 38. Additionally, because pheos are so vascular and mine were so large, they nicked an artery on one of my kidneys. It was determined that an arterial graft would not be worth the risks and that it was wiser to have me move forward with one whole kidney and a 2/3 functioning kidney.
They put me in the Intensive Care Unit (ICU) for 24 hours to watch my vitals closely. After being released from ICU, I spent the next 10 days in a hospital bed. The medical team and nursing staff were wonderful, but my body did bizarre things for that 10 days. No one was prepared for the effects of turning off all that adrenaline after all those years. I faced days of uncontrollable shivering, extreme nausea, and ankle swelling. They continued to run test after test to ensure that there wasn’t anything else going on. As my body attempted to adjust to steroids, which were now a lifetime requirement, I prepared for the next surgery.
As I was recovering at home from the pheo surgery, I had a bout of extreme nausea. To date, we can’t be sure of a clear reason other than my body had stopped absorbing the oral steroids and I slowly became dehydrated. This put me back in the hospital for 3 more days. I was now down to 149 pounds (when I entered the hospital prior to surgery I weighed 176 pounds). I was sent home and waited another two weeks for the surgery to remove 3 ½ parathyroid glands and my entire thyroid gland.
After this surgery, I spent 3 days in the hospital. As I was being released, I was informed by my surgeon that the medullary thyroid cancer had not spread to my lymph nodes. This was great news.
I went home and began a cocktail of Prednisone, Fludrocortisone, levothyroxine, and calcium with vitamin D. Several days later, I was feeling miserable, nauseous all the time, often shivering, and completely lethargic. I went in for a routine calcium test and by the time I made it home my surgeon called and said my calcium was at a dangerously low level and I needed to swallow some calcium tablets and get to the emergency room. This led to another 9-day stint in the hospital as they pumped IV calcium into my bloodstream.
It turned out that all those years of having hyperparathyroid disease had depleted my bones of calcium…they were now making up for it…they couldn’t get calcium into me fast enough. I was diagnosed with having “hungry bone syndrome,” and yes, that is really the clinical name. After 9 days they were able to stabilize my calcium levels, but I left the hospital on a new drug, Calcitriol, as my body did not seem to synthesize over-the-counter vitamin D. Additionally, I needed to take 6000 mg, yes 6 grams, of calcium orally everyday. My intestinal track did not appreciate all this calcium and all the drugs.
Thankfully, by late October my blood chemistry seemed to be stabilizing. I was down to 2000 mg of calcium and the nausea was less frequent…my body seemed to be adjusting.
As I prepared for a routine checkup with my surgeon, I was reviewing paperwork I had received. I noticed on the pathology report that the lymph nodes removed during my thyroid surgery were listed as being malignant, which was counter to what I had been told. When I met with my surgeon he was in shock; this was not the initial information he had been given. They pulled the slides, and he reviewed them himself with the number one pathology person in the clinic. It was verified that the medullary thyroid cancer had indeed spread to my lymph nodes. My calcitonin was also still abnormal, albeit very low relative to pre-surgery.
After further reflection, my wife and I, along with my endocrinologist, decided to have a consult at another major specialized center. In February of 2005, I flew to that center for 2 days of intensive diagnostics. They decided that I needed to have a modified radical neck dissection of the right side.
On March 27th, my birthday, they did all the pre-op work. On March 28th I had surgery yet again. This surgery went very well, and I was released within 2 days, but had to stay in the city for a week to recover.
While my calcitonin levels have never returned to normal, they have stayed relatively low, 60, and I have not had surgery since the March 2005 surgery. I have also had full body CT scans, octreotide scans, and bone scans. As near as we can tell, the cancer is staying stable for now and has not progressed beyond my neck. Every 90 days, I have a battery of blood work to monitor my situation (calcium, PTH, TSH, calcitonin, CEA, etc.). Twice a year I have a blood test to ensure there are no residual pheo cells.
I have battled fatigue ever since my surgery and continue to have periodic bouts of intestinal discomfort. Admittedly I have never felt like “myself” again, but I am told that this is not uncommon for folks in my situation. While it may not be optimal, it’s a small price to pay to be as blessed as I have been and continue to be able to live a fulfilling and vibrant life.
Recently my endocrinologist added Cytomel to my drug regimen; to my surprise it has helped with the fatigue. It appears, for now, we have found the “cocktail” that works best for my body.
My current drug regimen is as follows:
- Prednisone 5 mg in the morning, 2.5 mg in the evening
- Fludrocortisone 0.05 mg per day
- Levothyroxine 150 mcg per day
Cytomel 5mcg per day
- Calcitriol 0.25 mcg per day
- Calcium 500 mg in the morning, 500 mg in the evening.
I consider myself very blessed to have had access to specialists where I live and at the other center a short flight away. Additionally, my endocrinologist here continues to be an amazing asset to my overall health. Finally, I am so thankful for my beautiful wife Stephanie, who spent every day, and I mean literally every day, in the hospital by my side; her love greatly aided my healing.
People often ask me how I stayed so positive throughout my most challenging periods. I have always believed, and still do, that prayer and a positive attitude aid in healing the body, mind, and soul. I continue to practice this today, and God willing I’ll be practicing it for a very long time.
If you suffer from MEN 2A or any of the “3-pack” of diseases I reference, I am happy to chat directly with you and share my insights or just serve as an informed listener.
Life Is Good,
Meredith’s MEN2B Story – Surgery as a Toddler and Still Cancer FreeBy Meredith, 2007
Multiple Endocrine Neoplasia type IIB doesn’t roll easily off the tongue of the average person. I can spit it out in one breath, but I grew up with it.
I think I was in middle school or early high school before I actually learned about the syndrome that I have lived with for the past 24 years. It wasn’t until I had to write a paper on a genetics subject of my picking that I really knew what it was that made me different from so many others.
My mother, who worked as a tumor registrar, had medical books that I read, and answered my questions. Questions like how you pronounce Pheochromocytoma (fee-oh-kroh-moh-sahy-toh-muh), a word that makes people that don’t know about MENIIB stop and go, ‘huh? What did you just say?’
Well, I’ve learned a lot about MENIIB since I wrote that paper.
I was born with MENIIB, and therefore I have a 50/50 chance of passing it on to any children I have. Whether I take my chances and have kids one day, or choose adoption, well, I’ll cross that bridge when I come to it.
When my sister and I were born (she’s 16 months older), my parents knew that my father had had thyroid cancer, and that he might have passed it onto us. The pace of medical science meant they could not test us with simple procedures like, blood tests or biopsies, to see if we had cancer. The tests that they could run came back with borderline results, but my mother the medical guru/researcher kept reading studies and talking to doctors about what they should do. She knew that we showed the physical traits of someone that has MENIIB.
After talking with several doctors, our parents chose to have our thyroids removed at the ages of three and four. That had to be the hardest day of their lives.
Our usual endocrinologist wasn’t there during our surgeries, and according to my mom, his partner wasn’t too sympathetic to our parents. My mom told me that the doctor said to my parents that he hoped they weren’t removing our thyroids for no reason. Mom says she’s never wanted to kill someone more. I don’t blame her.
They knew that if we did have cancer, the chances were small that we would make it to adulthood without having some major medical issues. Science showed that people with MENIIB could live a full life without having their thyroid.
It turned out to be a good decision, since both my sister and I actually had Medullary Carcinoma of the Thyroid (MCT). It was microscopic, since they caught it early, and we have never had any symptoms of having it come back.
I don’t remember the surgery, as I was too young, but I still think it’s cool to be able to tell others that parts of my body were sent to England for medical testing and studies. In fact, our thyroids were part of the study that found out which chromosome it is that “goes bad” and causes the syndrome.
Growing up with MENIIB wasn’t a scary thing to me. It was just something that we dealt with each year. We have doctor appointments and tests that we have to have, but otherwise, we lead regular lives. When we were young, we had to have tests twice a year, but after we hit our teens, we went to being tested once a year.
My sister and I have nearly all the classic symptoms of MENIIB and some other health things that may or may not be connected to the syndrome. The hardest part has been explaining to other people why we have bumps on our tongue known as ganglioneuromas, or why I couldn’t skip in gym class.
I have thin arms and ankle joints, and a longer facial structure, and larger lips, traits characteristic to Marfanoid Syndrome. I also have Neuromas or abnormal nerve endings in my eyes. My sister and I were born with a clubfoot, which may or may not be connected to the syndrome at all. We had corrective surgery when we were little and we have weak ankles, giving us a good excuse not to don high heels.
Life with MENIIB hasn’t always been just yearly tests. When I was a senior in high school, my sister started having symptoms of a pheochromocytoma. Mom recognized them after my sister kept complaining that she got dizzy at the strangest times.
After running some tests, doctors found a tumor on her right adrenal gland that needed to be removed in the near future. For anyone who has had major abdominal surgery, you know that it’s a terrifying experience. It was probably one of the scariest times in my life, because, well, that’s my sister, and she’s hurting, and frightened.
This situation forced me to deal with the consequences of this syndrome first-hand. I was so scared for my sister’s welfare. I didn’t want anything to happen to her. My sister had her surgery a few days before Christmas, and now has a scar that runs along her midsection. It’s about seven inches long and starts near the bottom of her sternum and travels along her ribs out toward her hip. Her symptoms have disappeared, and we’ve both been fine to date.
The only other change that happened because of her tumor is that we have to each have an MRI every year, along with our blood and urine tests. Our doctor says it’s just an extra precaution that they want to take for a while. I would rather have an MRI each year then a CAT scan, but that’s mostly because Barium tastes nasty and I don’t like needles.
Having MENIIB isn’t the only thing that makes me a unique person, but it does play a part in how I lead my life. I know I need to find a job that provides medical insurance and still fits into what I want to do as a career. For the rest of my life, I will take thyroid hormone replacement every day, and I will usually win the arguments of who has the strangest medical condition.