634 Story The Three Pack
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 wasnt 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
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 didnt fit the profile since
those folks are wired out of their mind.
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 dont 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.
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.
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.
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.
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 wasnt 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 cant 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.
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.
out that all those years of having hyperparathyroid disease had
depleted my bones of calcium
they were now making up for
they couldnt 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.
by late October my blood chemistry seemed to be stabilizing. I
was down to 2000 mg of calcium and the nausea was less frequent
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.
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, its 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.
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.
drug regimen is as follows:
5 mg in the morning, 2.5 mg in the evening
0.05 mg per day
150 mcg per day
Cytomel 5mcg per day
0.25 mcg per day
500 mg in the morning, 500 mg in the evening.
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.
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 Ill 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,
MEN2B Story Surgery as a Toddler and Still Cancer Free
Multiple Endocrine Neoplasia type IIB doesnt 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 wasnt 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.
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
dont know about MENIIB stop and go, huh? What did
you just say?
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, Ill cross that bridge
when I come to it.
When my sister
and I were born (shes 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
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.
endocrinologist wasnt there during our surgeries, and according
to my mom, his partner wasnt too sympathetic to our parents.
My mom told me that the doctor said to my parents that he hoped
they werent removing our thyroids for no reason. Mom says
shes never wanted to kill someone more. I dont blame
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.
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.
remember the surgery, as I was too young, but I still think its
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.
with MENIIB wasnt 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.
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 couldnt
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
MENIIB hasnt 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.
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 its a terrifying
experience. It was probably one of the scariest times in my life,
because, well, thats my sister, and shes hurting,
forced me to deal with the consequences of this syndrome first-hand.
I was so scared for my sisters welfare. I didnt 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.
Its 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 weve 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 its 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 thats mostly because Barium tastes nasty
and I dont like needles.
isnt 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.