Patient Stories

About nine years of age, I began to experience frequent vomiting immediately following exercise. Profuse sweating and heart palpitations often accompanied this. Over the course of three years, I frequently went to my pediatrician to determine the cause of the vomiting and other symptoms. During this time, I received a complete G.I. workup, including an upper and lower G.I. exam and various imaging studies including x-rays and ultrasounds. Unable to conclude anything specific, the pediatrician prescribed antacids, Propulsid, Zantac, and Prilosec as treatment for suspected GERD, a chronic digestive disease. As with many pheo/para patients, the diagnosis can be a long process and, obviously, none of the prescribed medical therapy had any effect on the symptoms.

In February of 1999, at the age of 12 and about 3 years from when symptoms were first noticed, I began to experience episodes of high blood pressure. Over the course of several days, I went to my pediatrician, school nurse, and an EMT friend several times. With no known cause, blood pressure medicine was prescribed while answers were sought via a 24-hour urine test to screen for a rare disorder, which produces an elevated level of catecholamines. After two days, before the results of the 24-hour urine test were known, I experienced an episode of acute high blood pressure and was immediately referred to Boston Children’s Hospital.

Treated initially in the emergency room at Children’s Hospital to control my blood pressure, I was admitted and began a series of imaging studies including a CT scan, an MRI, and a renal function scan. From these studies, a diagnosis was made of a large paraganglioma located in the abdominal cavity. Coincidentally, shortly after this diagnosis was made, the results of the 24-hour urine test became available, and this test showed that I had an extremely high level of catecholamines.

After approximately three weeks of hospitalization during which my blood pressure was kept under control, I was discharged to allow my blood pressure to stabilize more before surgery. After one week at home, I returned to Children’s Hospital to prepare for surgery. An angiogram was attempted, but had to be halted due to dangerously high blood pressure and after several more days of increased medications, the procedure was done without incident.

With the information provided by the angiogram about the location of the tumor, the surgeon was able to remove a large paraganglioma (greater than 8 cm) that was wrapped around the aorta. It was an 8+ hours, difficult surgery. After a day in the ICU and nine more days of post surgical hospitalization, I was discharged and two weeks later returned to school.

After my surgery, it was suggested by my doctors in Boston that any family member with high blood pressure be checked for their own occurrences of paraganglioma. My older brother, who was in college at the time, had borderline high blood pressure that over the course of the next few months progressively increased. His doctor refused to perform studies as it was “too rare to have one in a family and there wouldn’t be another one.” Disregarding his doctor, my brother went to another doctor to get the tests performed, and it was determined that he had metastatic paraganglioma with bone lesions throughout his body. This is just another example, prevalent in our community, of doctors refusing to consider pheos/paras, as they are just too “rare.”

From 1999 to 2006, I received regular imaging studies at 6 month intervals that were generally inconclusive and utilized extensively by the hospital as teaching exercises. Teams of radiologists and radiologists-in-training would compare the various images from each study to prior studies in search of any new occurrences of paraganglioma.

In May 2006, following a routine nuclear scan with MIBG, several new spots of suspected paraganglioma cells were detected by strong uptake of MIBG. These spots were located in the left shoulder and left leg (tibia). After considering the options, it was decided that an interventional radiologist would perform an image guided needle biopsy of the shoulder. The goal of this procedure was to obtain a specimen for pathological examination and to hopefully remove the lesion. Location of the lesion proved difficult to access and while a specimen was obtained, the pathology report was inconclusive due to the small sample that had been obtained.

Afterwards I was referred to an orthopedic surgeon to consider a biopsy of the lesion in my tibia. An open surgical biopsy was performed in June 2006. During this procedure, a specimen for pathology was obtained and the surgeon attempted to completely resect the lesion. The pathology report on the specimen confirmed metastatic paraganglioma. Follow up scans in 2007 revealed that the two biopsy locations were still active, signaling incomplete resection. In addition, a new lesion on the spine (L4) was found that was present on prior scans and just not noticed.

In September 2007, we connected with Dr. Pacak at NIH and starting in early 2008 we have traveled to NIH every 6 months for continued imaging studies. Not long after starting at NIH, it was determined via a researcher at Ohio State who later went to the Cleveland Clinic where they had been studying our DNA for years, that we had the SDHB deletion trait. With all this information, we will continue to monitor my lesions and take it one-step at a time.

When I look back on all these experiences over the past 17 years, I see myself as lucky in many ways. While many of the experiences were difficult and the diagnosis process long, the disease was found on the early side and therefore I have been able to receive excellent medical treatment throughout the years. Most importantly, this disease has brought my family together and created bonds that would have formed differently otherwise. I feel that this has provided me a great opportunity to really appreciate all the great things in my life, and allows me to live a happy life with my wife.