Friday, March 30, 2007

What IS Men2a? Medullary Cancer? Pheochromocytomas? Hyperparathyroidism?

*I previously posted this in December 2004 but with all the people who still visit this site on their search for MEN2a, I felt it was important to post again WITH corrections because we all know I've learned alot more about this in two years. ) As always, thank you for reading and please remember that I have had two surgeries since this for the pheos and medullary cancer.*

I figured that I would post some information about MEN2a and the things that come with it as well as links for anyone who is interested to read.

"Multiple Endocrine Neoplasia II (MEN II) is a hereditary disorder in which patients develop a type of thyroid cancer accompanied by recurring cancer of the adrenal glands. One type of this disease (MEN IIa) is also associated with overgrowth (hyperplasia) of the parathyroid gland. The cause of MEN II is genetic -- a mutation in a gene called RET. Multiple tumors may appear in the same person, but not necessarily at the same time. The adrenal tumor is a pheochromocytoma and the thyroid tumor is a medullary carcinoma of the thyroid. The disorder may occur at any age, and affects men and women equally. The main risk factor is a family history of MEN II." Excerpt from MEN2a.

Basically all that means is that I inherited a mutation in the RET gene (codon C634R) that causes medullary thyroid cancer, pheochromocytomas, and in my case hyperparathyroidism too. Ninty seven percent of people with MEN2a develop medullary thyroid cancer, 50% develop pheos, and 20% develop parathyroid problems. Lucky me got all three. WHO I got this from I don't know. My mother and I are not on speaking terms so she won't tell me the results of her testing and she has denied me my birth father's true name my whole life. So I get to be considered the first in my family history from here on out to have this. We believe it came from my father's side though because I have 6 aunts and uncles and there was never word of this before now. It's hard not knowing for sure though and had my mother been a little less selfish I might not be as far advanced in my cancer as I am now. :(

Symptoms of MEN2 can include severe headache/migraine, heart palpitations, rapid heart rate, profuse sweating, chest pain/angina, abdominal pain, nervousness, irritability, loss of weight, diarrhea, cough, cough with blood, fatigue, back pain, increased urine output, increased thirst, loss of appetite, nausea, muscular weakness, depression, and personality changes.

I've had problems with some of these things over the years but I feel that I am one of the lucky ones. I am not in alot of pain and have only dealt with some things here and there over the years whereas some people have felt poorly and this has completely changed their daily life. For awhile I just thought I was a lazy person and just a weinie to be honest because all these little things would go on. I'm also a very stubborn person though so I have always just gone on and not complained about any of it.

There is no "cure" for this unfortunately although there is hope for one in the future. I am keeping my fingers crossed because my two oldest children have tested positive for MEN2a as well. Only my youngest son tested negative. Had I known about this when I was younger then I could have had a thyroidectomy and been saved from ever having the medullary cancer. We would have known to watch for the pheos and my bones and teeth could have been spared from the hyperparathyroidism. All of this could have been so simple yet someone's selfishness has made it so complex. Of course, I never would have had my children either sooooooo...

Since we've found this fairly early in my children they will have the thyroid surgery and hopefully be cured of the medullary cancer. We will unfortunately always have to watch for the pheos and they have a 1 in 5 chance of developing the hyperparathyroidism. At least they will never have to have my life and go through all I'm about to. For that I am very thankful.

What is Medullary Thyroid Cancer? There are four different kinds of thyroid cancer- papillary, follicular, medullary, and anaplastic. There is also recurring thyroid cancer as well. The first two are the ones most people get and can be treated and possibly cured with radiation therapy and chemotherapy. Anaplastic is a very fast moving and very deadly cancer. It's the one you just don't want to get. Recurring I honestly know nothing about and I apologize for that.

Medullary cancer is thankfully slow moving but it can not be cured by radiation therapy or chemo. In fact, neither one of those really does much of anything for my kind of cancer. People say to me "Well at least you won't have to go through chemo" and I am thankful for that BUT what they don't get is that I will also never know what it's like to be cured or in remission. You might think not having to endure chemo is a great thing but for someone who wishes for a cure and hope, it's not.

Anyway- this cancer is malignant and goes through C cells and calcitonin. Here is a link to help - Medullary Thyroid Info. As you can see there, around 700 cases are diagnosed per year in the US of MTC. They give people like me who it has spread in and who have tumors over 1cm less than a 15% chance of survival after 5 years. Does that bother me? Some of course, but I know of people who have had it worse than me for 20 years so I say "Pppppfffffffftttttt" to their 15%. ;)

What are Pheochromocytomas? Pheos are adrenal tumors that are usually bilateral in MEN patients. Only 10% of the time are they malignant so the cure for them is to have an adrenalectomy. Some people only get one gland out and the tumors never come back. Others battle them constantly until both glands are removed. I have a tumor on each gland and will have to get both glands removed. My children thus far have tested negative for pheos but we will always have to watch and wait.

The most common symptom of pheos is high blood pressure. Other symptoms can be found here along with more information Symptoms of Pheochromocytoma. All three of us have normal blood pressure which in my case the doctors find interesting. With my pheos as big as they are I guess I should be suffering from hypertension but I have always had normal to low BP... thankfully.

What is Hyperparathyroidism? "Hyperparathyroidism is excessive production of parathyroid hormone by the parathyroid glands." Excerpt from AllRefer-Hyperparathyroidism. As you can read at that link some of the symptoms are a royal pain in the butt. For me the itching, "bone" pain, ulcers, just over all achiness, and fatigue get to me. The fact that this has sucked most of the calcium from my teeth upsets me because my teeth are horrible and in a bad state of decay that no dentist could have ever saved me from. I've also had more kidney and UTI infections than I can count and blockages to my right kidney as well. The hypercalcemia that results from it has caused a slight curve in my spine (scholiosis), memory loss, bone and muscular pains, and flank pain as well. I think I hate the hypercalcemia more than anything.

Hopefully what I've posted and the links help you understand this more. You can also Google for MEN2a, pheos, or any of the other stuff to get more information. Thank you for reading.


Anonymous said...

I also have MEN2A. All 3 of my daughters also have it. My oldest has had her thyroid, parathyroid and 64 lymph nodes in her neck removed. My younger 2 both have had thyroidectomies and partial parathyroid removal. Their ages are 22, 20 and 17. We are tested (at the Mayo clinic in Jacksonville) once a year. It has been a roller coaster ride for sure but we have made it so far. In my family (their was 15 of us) 1 brother and 5 of us girls have the MEN2A. A few, 4, of my sisters had the pheos. We were one of the orginal families first diagnosed with it in the early 70s. One sister and a cousin died from advanced cancer, that was before testing at an early age. I enjoyed your blog and all of the info you provided.

Gossamer Axe said...

Thanks for writing this. I just found out on Friday that I have MTC and am being tested for MAN2A as well. There is no thyroid cancer on my Moms side, but I don't know anything about my Fathers side, so who knows.

Best of luck to you and thank you again.

Anonymous said...

Growing up, i always new that MEN2A ran in the family, That is was cancer that took just about everyone out. That was just the was it was and so I just was to face the facts. So when I was 10 and had my first surgery, no suprise realy, at that point I beleve I was # 37 in my family to have the cancer. And yes, i did have the cancer on my thyroid size of a pea on 1 side and a pea 1/2 on the other (lol I was a kid thats how they told me). my voice box was also infront of my thyroid...not normal, but I got lucky and didnt loose my voice (everyone else has suffered sence lol). At 15 I had to have some lympnoids in my neck taken out they had swellon. then at age 15 I was also put into the hospital and diagnosed with bipolar disorder. At age 23 (and preg.) I was told my calsatona lvl was up and that my thryoid cancer was back (although not in my thyroid). So they did 3 seperate surgerys taking out lymnoids in my neck, over the next few years, taking out around 200. At age 30 I was so very sick and had been telling the doctors for so long, that somthing was long, but they would not listen. One day, my brother took me in to the ER (in fact it was Super bowle sunday, he never lets me forget this lol) and the ER discovers that I have a tumor on my addrenal gland. Well I go to my doc. they check my metanephrins and such, and they say that they are not as high as they should be if I were to have a "Pheo", yet I tell them, I am too sick and they need to take care of this. They finaly agree to do surgery after around 4 months, and sure enuff, I not only had 1, but 2 and as they took out the second one, it burst! Well it has been about a year & 1/2 sence the surgery and still tryin to ajust to the steroids, but there was somthing that I had also found very interesting... when they removed the pheos, my moods changed, and I was no longer up and down, I could suddenly think clear. it was so great! so I started talking to my doc about it, and she began to wonder if it was a misdiagnosis that I had had in the past for the Bipolar. the problem was we did not have proof that I had the phoe befor I had been 30. Well Just resently i was serching through old medical records of mine, and noticed that an off doctor that I had went to had ran a few test on me. In the test results it clearly states that I had a tumor in my adreal gland and could have been a Pheo! this was from Several years ago!!! Oh I think that doctor messed up, but at least i am still alive!
I still have an elavated calsatona lvl and my CSA lvl is high as well. they are wanting to do surgery on my neck again, and I am wanting them to to a venus sampaling again first. They are also worryed about me possably having uterian cancer, I have had displasia twice. Unfortunetly With having endomitrios, and such..yeah.
Anyways, I wanted to add my story in hopes that it could also help someone else. I think that what you have done on this site is AWSOME! I would like to add one thing, even though this cancer is slow on landing, once it does decide where it is going to land it tends to grow pretty fast. But the good thing is, it realy does seem to take years for it to decide where it is going to land! And as I said befor, this site is great! I realy felt like I had someone who understood, who had gonethrough it. I am the 1st in my family to have the double pheos.. go
Live, Laugh and Love AND always find a Positive in every negative!
Just cause you have cancer dont meen your gana die, so if a doctor says you got six months to live, say to him... where?! What?! do I have a Stamp on my ass that say I exspire in six months!!!

Jo said...

First Anonymous- I'm sorry it has hit your family so hard. I can honestly say I understand how you feel and as I've posted, I recently lost my father to this.

If you EVER have anything to add I would love to hear from you. Take care and sorry it took me so long to get back to you.

Gossamer Axe- I'm sorry to hear about your diagnosis but if you need ANY help or info please feel free to email me. I'm also sorry to you that it took me so long to get back. Hugz.

Second Anonymous- I'm so glad my blog makes you feel like you're not alone. That is honestly the reason I started the blog in the first place! When I was diagnosed I went online and couldn't find anyone posting about MEN2a and MTC. I too felt alone so I started just logging what was going on and soon other people let me know they were out there too.

I'm always here to talk and will try not to be absent so long in the future. Hugz

Bill said...

My family has dealt w men2a for years ive lost alot of family members to it! My sister and her son have it he was diagnosed at 4 years old my sister was 12 both have had their thyroids removed! My mother grandmother multiple cousins great aunts and uncles have it! Just found out today our family is #1 in the us to have this gene! The slagle family!! Also it was found out that persons w men2a cannot have anything that involves radiation done to them especially if their calcitone levels are high for radiation feedsthe cancer! Thats why my grandmother died in 2006! Glad i came across this site

Anonymous said...

My mother was diagnosed with MEN2A in 1959. She had MTC and bilateral pheochrompcytomas. She lost her battle in 1979. I was diagnosed in 1984 with MEN2A and MTC after being mis-diagnosed for 7 years. I rarely had spikes in my blood pressure and never had a 24 hour urine test come back positive. However ultrasound and MIBG scans confirmed my bilateral pheochromocytomas. My first adrenalectomy was performed October 1984, total thyroidectomy 1985 and left adrenalectomy in 1991. At least I was spared from 1984 to 1991 of not having to take steroid therapy. The steroid therapy has caused medically induced glaucoma. My son tested positive for MEN2A at the age of 10 and had bilateral adrenalectomy performed at the age of 22 for bilateral pheochromocytonas. All three of his sons also tested positive and all three have had complete thyroidectomies. I lost my son to this disease in 2005. It is a terrible disease, but with research so much is being learned. If you feel you have any of the symptoms see an endocrinologist immediately. It is an extremely dangerous disease if not treated.