Another Rare Disease Delayed Diagnosis: Extra Adrenal Pheochromocytoma
At Rare Disease in Washington DC, we talked with Brian Wood about the years of being unable to properly get a diagnosis of extra adrenal pheochromatocytoma.
As Brian explains in this interview, the years of high blood pressure, emergency visits, seizures, sporadic episodes of excessive strength and fatigue were not relieved until he was able to get a proper diagnosis and have the tumor surgically removed.
Well, I was diagnosed with a secreting neuroendocrine tumor called an extra adrenal pheochromocytoma in 2015 after having been ill for over a decade and been misdiagnosed with several other disorders and illnesses from some of the top institutes and medical centers in the country.
An average day for me when my tumor was active was – I would sweat profusely, have elevated blood pressure, fits of rage body, tremors, nausea, weight loss, incredible fatigue followed by incredible bursts of strength. My friends called me the Incredible Hulk.
And I went for many, many years being very ill and having periods of time when I was hospitalized several times a year and there was a period of time when I would go to the emergency room two or three times a week with episodes that involved extremely elevated blood pressure.
None of the doctors that I saw and I went to many different organizations, university medical centers, tertiary care centers, including the Mayo Clinic. None of them were able to diagnose me properly.
Finally, out of desperation, I started researching myself and I came across a differential diagnosis for what i suspected was this type of tumor. My endocrinologist tested me for five years. There's something called a diagnostic protocol where you have to meet a minimum threshold in order to be diagnosed with having one of these tumors and my elevations of catecholamines never met that minimum threshold so the doctors kept telling me it was impossible for me to have this tumor.
Well after five years of testing, I found this differential diagnosis of another disease called mast cell activation disease and what that disease involves is a process where the body”s mast cells degranulate inappropriately and they release over 200 known cytokines and bioagents into the body many of which are designed to help the body in times of crisis.
I found out that there's a large community of people of patients that have this disease but they're not getting diagnosed with it either because it's so very little is known about it and there isn't much research about it at all. There's only handful of doctors in the country that know about the disease and how to diagnose it properly.
So, I went to one of those doctors and I said, well my endocrinologist tells me I don't have this kind of tumor so it must be mast cell disease. Could you please help me? He said he would. He gave me some testing and he went ahead and also suggested that i have a full body diagnostic imaging done, which up until that point, the endocrinologist had not ordered for me since the diagnostic protocol for the pheochromocytoma says that if you don't have the three to four fold elevations of the catecholamines in the blood, diagnostic imaging is not suggested.
Thankfully because of this doctor suggestion (he is not an endocrinologist but a hematologist), I was able to get a full body scan. Concurrent to that, he ran the necessary blood testing for the mast cell disease.
I received a phone call the day of my scan and I was told to come back to this to my doctor's office and that they had found a lesion in my abdomen in the retroperitoneal area that was suggestive of something called the paraganglioma which is another word for extra adrenal pheochromocytoma.
So after some investigating, it was determined that that is indeed what it was. I went to the Cleveland clinic in December of 2015 and had a world-class procedure by some excellent physicians and surgeons and I had the tumor removed.
Immediately after removal of the tumor, a lot of my symptoms, 85% of my symptoms, went away. It was a great sense of relief and a realization that I had been very ill for a lot longer than even I realized. So it was life-saving surgery and I'm so grateful for that.
But one thing I did find out following that surgery, I went back to the first doctor, he called me back, and he said ‘you know, you have elevations of certain biomarkers in your blood that are indicative of mast cell disease.’ So over the course of the next year i had more testing and I eventually found myself in Minnesota at the offices of Dr Lawrence Afrin, considered one of the world's premier experts in mast cell activation disease, and he diagnosed me with that disease as well.
So, while I'm not dying anymore and my days are what i would consider normal, I still have a life-threatening anaphylaxis events as a result of the mast cell disease. Fatigue, food intolerances, medicine in tolerances make life difficult but every day is a gift and I've come so far. And there are so many people in this community that are far worse off than I am and it gives me courage and hope that cures and treatments are going to be found for these rare diseases.