I've been thinking about this blog post for a long time - it's a hard one to write because it talks about the fear, anxiety, and frankly, denial that come with being diagnosed with a genetic disease. This is *my* experience - your mileage may vary.
To start, a brief explanation of Multiple Endocrine Neoplasia (MEN1) from the Mayo Clinic website. Everything stated below hasn't necessarily been my family's experience but it's a good introduction:
Multiple endocrine neoplasia, type 1 (MEN 1), sometimes called Wermer's syndrome, is a rare disorder that causes tumors in the endocrine glands and parts of the small intestine and stomach. In MEN 1, the endocrine glands — usually the parathyroids, pancreas and pituitary — grow tumors and release excessive amounts of hormones that can lead to disease. However, the tumors are usually not cancerous (benign).
The excess hormones can cause symptoms such as tiredness, bone pain, fractures and kidney stones, as well as stomach or intestinal ulcers. Although MEN 1 can't be cured, if regular testing detects problems, doctors can provide treatment as needed.
MEN 1 is an inherited disorder, meaning people who have the gene mutation can pass it on to their children. Each child has a 50 percent chance of inheriting the disorder.
I can't remember exactly when I found out, or understood, that it was a genetic issue that caused the cancer that claimed my father's life. It may not have been until I was 11 years old when my mother took my brother, sister, and I to a local clinic to have a blood test done. I did understand that we were getting tested to find out if we had the same disease our dad had. Understanding that was pretty scary, but not as frightening as the prospect of getting a needle poke and blood drawn was. I had one vial of blood drawn and passed out cold - thus beginning a pattern that has continued into my adult life - but that's a topic for another time.
Genetic testing for MEN1 didn't exist back in the 80s, of course. What we were being tested for were elevated calcium levels which would be a sign of hyperparathyroidism, typically the first presenting complication of MEN1. It would be unusual for a child to develop hyperparathyroidism but, sure enough, I had elevated calcium though my brother and sister did not. I had MEN1 - if you have a family member that was known to have MEN1 and present with one trait of the disease it is a confirmation of a positive diagnosis. I am not certain that I understood at this point what having MEN1 really meant for me in the long term. I knew more blood was going to have to be drawn from time to time which was scary enough but don't think I comprehended or was told much more than that.
My mother and I were referred to Shands Hospital at the University of Florida. This is where my father was diagnosed with MEN1 and where he sought treatment and surgery for his pancreatic neuroendocrine cancer. At age 13 we made our first trip to Shands where I was hospitalized for a few days and underwent numerous scans and blood tests. Frankly, this felt like torture for a kid who was anxiety prone on even a normal day. I was old enough to understand now that I had a disease that had killed my father but also had been told that the same thing might not happen to me. I also understood that I would have to have testing for the rest of my life to stay on top of issues that might develop. Based on the passing out, throwing up, and general anxiety I showed on that trip, I am also sure that my Mom also didn't look forward to the prospect of more testing. My roommate on that particular trip was a girl of about 16 that had terminal cancer. My mom and I both remember her cries of pain and her mother's anguish. While I may have felt bad for myself, I had that in my face reminder of how lucky I truly was. In the end it was determined that I could still wait for surgery. My calcium was elevated but not out of control and I had no other symptoms of hyperparathyroidism or MEN1 to deal with.
My next trip to Shands was at age 17. I'm not entirely sure why there was a lapse of several years before this return trip. I would guess that it had as much to do with anxiety and fear on the part of my mom and me as it did with the busy schedule of a working mom and two teenage kids. And besides that, I felt perfectly fine and was a healthy, busy teenager according to anyone's standard. A blood test and ultrasound on the first day at Shands told a different story though, my calcium levels were very elevated and my parathyroids had grown quite large. Surgery was needed and there wasn't any putting it off. So I had my first surgery at age 17 (1988). It took 8+ hours for the surgeon to locate and remove 3 of 4 parathyroids and I was in the hospital recovering for a week. (Kind of funny to look back on those facts, now a parathyroidectomy only takes 1-2 hours and you may not even stay overnight.) I was old enough to understand that this wasn't likely the end of my MEN1 journey but that there was no telling when other issues (pancreas, pituitary?) may present themselves. I think it's also important to say again that I felt absolutely no symptoms of my hypercalcemia. Without testing we just wouldn't have known. I was also advised that if I ever wanted to have children that I would need to undergo genetic counseling. While I had never had an overwhelming desire one way of another about motherhood, this did make a big impression on me. I didn't see myself ever wanting to go through a selection process for healthy children knowing that I wouldn't have made the cut myself. I didn't like thinking of myself as 'damaged' and this pretty much put an end to any thoughts of having children.
From this point on it became my responsibility to care for my MEN1 and I was certainly old enough to understand what this might mean long term. I spent my college years fearful of what the future might bring but at the same time I was fatalistic in my outlook. After all, this was in my genes and not something I felt I could prevent or even minimize based on my behaviors. I didn't have the feeling of invincibility that some young adults have but also didn't see a need to avoid bad habits like smoking cigarettes.
Coming out of college, I wasn't fortunate enough to have employment that gave me access to health insurance. One of the first opportunities I had was once I joined Americorp in 1995 and got very basic health coverage. At that time I went to see an endocrinologist in the Atlanta area who screened me for high calcium, which was back, but there was no way I was going to be able to afford surgery or more advanced scans. My 20s were spent pretty much in this pattern.
During this time, I brought up MEN1 with my family on occasion. By this time a genetic test had become available and I shared this info with my family. I didn't feel like it fell on receptive ears though. By this time I think we knew that my brother had exhibited some elevated calcium levels but since neither he or my sister had any symptoms I suppose we all figured what could be the harm. We were all still young - in our 20s and 30s - I suppose we thought there was still time. I even remember discussing with my sister what the symptoms of MEN1 were and she wasn't experiencing anything. I think we hopefully concluded that she didn't inherit the issue.
In my 30s I think this same feeling - was it denial? - began to be my default about MEN1 as well. By this time I had been to 3 different endocrinologists who didn't seem particularly concerned about anything other than my elevated calcium readings. In fact no doctor ordered anything other than blood work for me. No CT scans, no MRIs. Again, I felt very healthy and had begun pursuing cycling and seemed to be in great health. I certainly didn't understand that the doctors I was seeing weren't familiar with MEN1 and probably weren't familiar with the protocols for screening. There still weren't a lot of online resources about MEN1 at that time though a few were beginning to pop up. But by the time I was in my mid to late 30s I very rarely thought of MEN1 any longer as being part of my life. I knew I probably needed another parathyroidectomy but just couldn't be too bothered to schedule time off for a surgery on something that didn't even seem to bother me at all. I logically knew that there might be long term consequences for hypercalcemia but... well, I don't know. There just isn't a good excuse.
Of course if you're at all familiar with my story you know that this all came crashing down for my family when my sister was diagnosed with stage IV neuroendocrine cancer in 2008. Debbie felt fine like I said - until she didn't anymore. I will never forget the phone call I had with Debbie when she asked me what our father's symptoms were. I was still in such denial and want to believe that Debbie had hepatitis or some other liver issue - anything but that MEN1 had caused this but of course it had. Those feelings of guilt and regret over the next six months were very hard and they still nibble at me from time to time.
Looking back, there were actually small symptoms that Debbie and I shared. GERD that we both handled by taking a PPI or with Tums. TMI ahead... diarrhea that we probably should have realized was happening a little more often than normal. But I think we both just figured this was part of getting older. We also come from a family culture that didn't put up with whining. I still get a kick out of the fact that my Mom always told me that I was too young to have a headache whenever I asked for an aspirin growing up. A little of this attitude isn't a bad thing - but too much of it clearly isn't. Had we been a little more educated about MEN1 we also would have recognized that we were exhibiting classic dermatology symptoms of MEN1. Angiofibromas that kept popping up on our noses, collagenomas on on our chest and upper arms. A researcher could probably fill a career on our family MEN1 dermatology issues alone.
So when all was said and done it turns out that all of us kids did have MEN1. Every single one of us hit that 50/50 genetic jackpot. I don't think a single one of us felt so much sad about this for our individual selves as we did for our Mom - that is more than a woman who already lost her husband to this disease should have to tolerate. My parathyroid issues were the 'strongest' in my family which is why I likely presented so early with elevated calcium. By the time I got around to my second parathyroidectomy in 2008 the surgeon said my tumor (benign) was the largest they had ever removed at Mayo and my calcium levels were through the roof. All 3 of us had pancreatic tumors that were malignant, though, thanks to my sister's diagnosis both my brother and I discovered ours before there was any metastatic spread. My brother also has thymic and pituitary issues he is dealing with that I have not yet exhibited. One of the ways that MEN1 is particularly unfair is that males are subject to a thymic complication that females don't seem to be. Looking back, it seems based on anecdotal evidence that my father may have had thymic carcinoid himself.
So why put this all out there? I'm hoping these lessons will help another family. Here's the conclusions I've drawn:
1) Find a doctor that knows what they're talking about when it comes to your rare disease
I shouldn't have wasted time on doctors that didn't specifically know MEN1. Even once I went to Mayo clinic for my screening I had an admitting doctor that said he was quite sure that I was fine since I was in such good health. That gave me a glimmer of hope that just didn't prove to be true.
If you can afford it, go to one of the big centers that treats a lot of MEN1 patients; Mayo Clinic, MD Anderson, etc. Do a web search, there are resources out there. For example, amensupport.org.
2) Educate yourself and be your own advocate
There is a ton of info out there on MEN that wasn't available back when I was diagnosed. You can even get protocols on how often you should be screened and what tests should be performed. If you can't get to a doctor that knows MEN you can at least bring them a copy of a screening protocol.
3) Be an advocate in your family
Ah, regret. I didn't want to be the doomsday speaker in my family and I just gradually bought into a hope that everything would be fine. If I had only known a little more, found out where genetic screening was available. Woulda, shoulda, coulda. Don't let that be you.
4) My MEN1 is not your MEN1
For that matter, my MEN is not my sibling's or parent's MEN. The spectrum of issues with MEN1 is going to vary from person to person. Some families, like mine seem to have more malignancies. Other families may go a lifetime with only parathyroid issues. My siblings and I had pancreatic tumors that produced different hormones for each of us.
The thing is, you shouldn't read my story and assume things will be the same, or even similar, for you. Which brings me to my last lesson learned...
5) Being fatalistic doesn't work - you can help yourself
Being in great shape from cycling and triathlon likely played a big part in my speedy recovery from my pancreatectomy. Having training to look forward to day to day plays a big part in my mental well being. It turns out that cigarette smoking can exacerbate thymic carcinoid in males with MEN1. That is certainly something that we didn't know growing up that might have made a difference in the choices my siblings and I made.
It also doesn't help me to spend too much time looking at MEN1 studies online. It was overwhelming to see all the medical studies out there about MEN1 and shortened life span when I was getting ready for my pancreatectomy. I recognize that MEN1 has a place, sometimes quite a big place in my life, but I need to fill my life with lots of positives to make up for what has been so devastating for me and my family. So I try not to give it too much more thought than what it deserves. Sometimes it requires a lot of time and thought - sometimes it's very little.
I was very fortunate last year to be put back on a yearly maintenance plan at MD Anderson after three years of frequent checks. So far, so good. PTH and calcium levels are good, hormone levels and scans on my abdomen, chest, and brain are crystal clear. So time to keep on keeping on - crossing my fingers for positive outcomes and taking care of what is in my control. That's the best anyone can do and I'm really hopeful that good things are in store.
