Patient Stories

I am a 42 year old Australian male who had two extra adrenal pheochromocytomas removed nine years ago in 2004. It has since been discovered that I have a gene fault in SDHB. As a healthy person up to that point with rarely any need to visit a doctor, my extremely high blood pressure levels (average 110/160) were the only indication that something was not quite right. So my diagnosis in 2004 was a surprise and also a relief by giving answers to the blood pressure issue which I had known about since the age of 18.

No one really knows how long my body was playing host to these tumors, but I suspect it may have been since birth or as a toddler. I consider myself very lucky to be alive. I was very hyper-active as a toddler and am told by my parents that I always resisted going to sleep, would run from the moment I woke up, and had to be physically held in order to calm down. I was a very happy but exhausting child to all those around me and so it was with real delight that my parents discovered that a daily dose of Vitamin B took the edge off my erratic behavior. Around that time as well, I remember running around at primary school and later asking my parents if my heart could burst because it was beating so hard. The beginnings of a pheo? Who knows, but interesting nonetheless.

Fast forward to my teenage years and many people started noticing that during my participation in sports my face would go very pale and the skin around my eyes become dark grey. They were concerned I was going to faint. I thought my heart rate was always quite high, but I wasn’t concerned about fainting as I had never even felt light headed. In a particular gym class, however, my teacher instructed the class to do an exhaustive workout and then taught us how to take our pulse rates. I remember taking mine (I don’t remember the actual number) and the gym teacher said it was too high and that I must have made a mistake. I had to do the workout again and this time the teacher took my pulse rate. He was astounded at how high it was but said that because my pulse rate recovery was quick, I must be quite fit. I continued my high school years believing I was a pretty fit teenager.

Next was University, and in my first year at age 18 I thought it would be a good idea to follow in my father’s footsteps and become a blood donor. At my first donation the nurse noticed that my blood pressure was quite high, but she put it down to the fact that I may have been nervous. So I rested for 10 minutes and my BP reduced to just within the acceptable range and I was able to donate. The same pattern continued for every donation.

Many of the nurses recommended that I see a doctor regarding the high BP readings. Of course, being a teenager, I didn’t bother and didn’t even think anything more about it. That casual attitude was all about to change once I married my wife (who is a nurse).

I was married a few months prior to my 25th birthday. We both had good jobs and a house and were planning a large overseas trip. My wife was well aware of my blood pressure issues at the blood bank, and I was still a regular donor. However, the nurses were getting more insistent that I check out the issue. My wife wanted to make sure that everything was ok before our trip, and I had myself checked out by my local GP. It was confirmed that I was experiencing some mild hypertension and being a non-smoker and a slim 72kg (158 pounds), I was referred to a cardiologist who performed some renal testing and a heart stress test. The end result of those tests was that everything was normal and once again it was confirmed that I was actually very fit, so off to the Mediterranean we went!

The visits to the blood bank continued, but on a couple of occasions I was not allowed to donate because my blood pressure didn’t get back to the normal range while I was resting and waiting for the needle. Eventually the blood bank refused to see me any more until I could get a letter from my GP confirming that I was as fit and healthy as I would have had them believe. Also, we were starting to think about planning a family (I was now in my early 30’s) and so there were even more reasons to ensure that everything was ok. I must admit it was probably only at this stage that I started to question why someone like me (fit, healthy, lean and a non-smoker) would have such high blood pressure. I even purchased a blood pressure monitor and regularly recorded the readings. One particular evening after going for a jog my blood pressure reading was 241/120!

During this time I had an interesting situation occur whereby I was under considerable stress at work. One night after a difficult day at work I discovered that my pet cat was missing. On going to bed that evening I remember feeling quite uptight, tense, and with a sense of dread regarding my cat. I knew that my blood pressure was probably extremely high and so I didn’t even bother measuring it. However, overnight I awoke with a bloody nose, and it just wouldn’t stop bleeding. Large clots of blood were literally pouring out of my nose to the point where I had to use a container to catch all the blood. This went on for hours and eventually stopped, but only for a short while and then it resumed with the same ferocity. The same process continued for days and eventually I saw an ear, nose and throat specialist who advised that a clot had lodged behind my nose cavity somewhere.

I guess I was lucky that it didn’t travel anywhere more sinister. The treatment consisted of stuffing endless amounts of medically treated gauze up both nostrils and eventually five days later it stopped. Once I returned home from my final visit to the specialist, battered and bruised, I was amazed to see my cat staring back at me from inside our house. She was locked underneath a neighbor’s house, and they brought her back that day! There have been no more nose bleeds since then!!

Around this time I decided to spend a few months really looking after myself by watching what types of food I ate, limiting my alcohol intake, exercising when I could, and taking lots of vitamins and mineral supplements, all to lower the persistently high blood pressure. I started to lose weight which was odd for me because all of my adult life my weight had always been 72-75kg no matter what I did. Suddenly I was below 70kg. Also, I started having a reaction to one of the supplements, causing me to vomit for hours on end. Suddenly I found myself at just above 60kg, and looking back at photos of myself then I look like a skinny old man ten years older than what I was. I really hated that time but grew more and more determined to find a solution.

It was time to go back to my GP, and after a number of visits the final diagnosis was for essential hypertension or hypertension where an exact cause can’t be diagnosed. I was quite happy with this until I was told that I would be prescribed anti-hypertensives for the rest of my life. I really wanted to know an exact cause, and my wife and I decided that we would look into it further before going down that path. We also prefer to try and solve health issues through diet and lifestyle methods first before taking medication. This led us to a cardiologist that has authored books regarding that same subject. It only took one visit to this cardiologist and after some scans and tests he decided that I was pretty fit and healthy and that the original diagnosis of essential hypertension would probably be correct. However, he also suggested a 24 hour urinary catecholamine study to exclude pheochromocytoma. So a few days later I took the test and within a week I was informed by my GP that the results were positive for a pheo, and I was referred to an endocrinologist.

I must admit that I was quite relived that we had finally found a reason for the persistent high blood pressure. All further tests confirmed the existence of a pheo impacting my adrenal glands, thereby producing adrenaline at six times the normal rate. At this early stage of diagnosis, I was made well aware that surgery was the only option, and key-hole surgery was most likely. So not only did I have my solution, but it was going to be a quick and easy removal of the tumor and life would get back to normal.

However, further tests (CT scans, nuclear scans, MRIs, and blood-work) revealed that it was an extra adrenal pheo about 6cm in diameter and my aorta was wrapped around it so that surgery was now reclassified as major. As the specialist and hospital visits continued in earnest prior to the surgery date, my normal positive happy attitude to life was quickly evaporating. I had a brilliant surgeon and specialist and was receiving excellent care from all angles, but it was made crystal clear to me over and over again, the risks in undergoing this surgery were many and varied. At that stage I was working as a project manager and so I was used to determining risks and then developing mitigating strategies for each risk. My surgeon and his team had followed a similar process and even though their strategies to mitigate the risks gave me some comfort, there were just so many risks. Finally on my last pre-op clinic when I think I was at particularly low ebb, the surgeon mentioned the elephant in the room. Death. I knew death was a possibility but I had conveniently pushed that risk to the back of my mind. My wife was four months pregnant with our first child by this stage, and so the gravity of the situation was nearly too much to bear. That day I found myself at the lowest point in my life but decided that I would not share this particular risk with my wife (as she was under enough stress already). In fact, I would not share it with anyone. I found a much more productive thing to do and that was to meditate and focus on a positive outcome where I clearly visualized myself tumor free and healthier than ever.

Surgery day came around and I just wanted it done. I was feeling positive, fit, and healthy. I’d even put back on a few kg’s. I said my goodbyes to my family, my wife, and unborn child and was wheeled to the theatre where I continued to breathe deeply and calmly and focus on the new me that I would find after my induced slumber. We were expecting the surgery to take around six hours, but it actually took nine hours due to the discovery of a second pheo which was hidden behind the main one. Also, I believe they had some difficulty in stemming the bleeding, but I was blissfully unaware of all of this. It was my poor wife and family who were waiting for what seemed an eternity. The surgery went extremely well. I was alive and had all my major organs intact, two tumors were gone, and at last my blood pressure was normal. The only negative was that I was told that due to the extensive surgery near my groin, it was unlikely that I’d be able to have any more children. I was, of course, disappointed by this, but considered it a small price to pay for my own longevity. The hospital stay was meant to be about ten days, but I worked hard and got myself out in seven. My pain management and care was brilliant, but with a surgical scar from sternum to groin held together with 56 staples I was extremely uncomfortable and felt like I was going to burst open every time I sneezed, coughed, or laughed.

I had three months leave from work, so ample time to recover. However, I was still extremely tired for about six months post-surgery, and I think it was probably 12 months until I could class myself as 100%. During the early weeks of recovery I just spent the days falling asleep. Then I’d wake, only to fall asleep again. I have never experienced such extreme tiredness and lethargy and a five minute nap would often turn into five hours. At four months post-surgery my first baby girl was born, so life was busy but fantastic. My blood pressure remained normal, and I continued with regular CT scans, bloods, and urine tests. This is where I thought my journey with this disease would end: regular tests, eventually no tests, then, being such a rare disease, I would never hear of it again. I also thought that I had dodged a major bullet, and by my logic, would live to 100. That theory was about to change…

A few years later we decided to try for another baby, after all we were only told that it might be impossible to conceive. To our surprise we conceived straight away and just over three years from the surgery our second baby girl was born. I had another few months off work to help with the baby. During that time my wife and I hatched a plan for me to work for myself, trading the share-market. However, it took another seven months before I actually left my employer a few days prior to my 36th birthday. It was a very exciting time, and I felt on top of the world, nearly bullet-proof. It was very surprising then when after only one week enjoying my new life, I found a small pea-shaped lump on one of my testicles. My specialist was hoping that it might just be scar tissue from the pheo surgery but referred me to a urologist. It took less than a minute for the urologist to confirm that I most likely had testicular cancer. I took a blood test for final confirmation. I was assured that this was very quick and easy surgery with minimal risks, and that because I’d acted early there was a 95% chance that I won’t be affected by it again. However, this didn’t mean anything to me because I was so angry. I have never felt such anger before; it was scary that I could feel this way and suddenly my bullet proof persona was shattered and thoughts of living until 100 were gone. Once again, surgery went well and my recovery was excellent. I continue to be tested and scanned for both pheos and testicular cancers, but at 42 I am probably fitter and healthier than most. Incidentally, it’s not known whether the testicular cancer was somehow linked to the pheo, but it was a pretty big co-incidence and therefore deemed “possible.”

As mentioned earlier my genetic testing revealed a fault in the SDHB gene, and I knew it would be prudent to eventually test my daughters for the same faulty gene. Eight years of age is considered a good age to start the process and so a few months ago we arranged testing of my oldest daughter who turned eight at the start of the year.

Unfortunately she does have the defective gene, and now the process of blood tests and scans will begin for her. The good news is that she tested negative for any trace of an existing pheo, and I am well aware and hoping that she will be one of the many people with the defective gene that don’t develop any tumors. The confronting part for me is that I was hoping to eventually finish my testing cycles and then the pheo would become just part of my history. Of course, I have always known that it could surface again. Now I feel it is my duty as a father to get involved where I can, learn as much as I can, and arm myself with knowledge. To be forewarned is to be forearmed. And ‘battling the enemy within’ at this stage of my life is more about focusing on the present, being grateful for my past, and allowing my future to evolve. It’s turned from a battle of the body to a battle of the mind and I feel very well prepared!

Written by Justin Kranz, June 2013

Post Script: After completing this story my other daughter, my father, and my two sisters have all since been diagnosed with the same genetic mutation, but all are enjoying excellent health.