Sierra’s story begin in Febuary 2016. She was 8 years old. Out of nowhere she had no appetite, wasn’t drinking and lost about 20 lbs. Over a 6 month span, she was fussing horribly about right side pain and had headaches that would knock her out for hours. She saw the doctor, they did tons of tests, and diagnosed her with constipation. She was given daily medicine and things seemed to get better for the most part. Life went back to normal, so we thought.
From then on, there were still headaches three times a month, and the right-side pain was something she still complained about off and on. Fast forward to May 2018. Sierra was really fussing about the pain in her right-side so we saw the doctor. The doctor noticed her blood pressure was elevated and the focus quickly turned to that. We started blood pressure checks at home and followed up with the doctor. Her readings were consistently high. Her doctor started her on a medicine for her blood pressure, but her BP was still not coming down. The doctor felt considering Sierra was only 10 and not responding to the medication, further testing needed done.
Throughout the following months, she saw a nephrologist and a cardiologist. She had an echo, an EKG, an ultrasound, urine tests, and bloodwork. Everything seemed to be coming back fine. The nephrologist was changing BP meds and trying to find something that would bring her numbers down, but nothing worked. In December 2018, Sierra had her first 24-hour BP study, the readings were too high. So, the Dr added a second medication. In March 2019, she had another 24-hour BP study, and again the readings were still too high. Her nephrologist said there was no way that he could increase her medication any higher. So, he wanted to do another ultrasound of her kidney, and that is when we started to get answers.
In April 2018, the ultrasound showed the artery going into her kidney was blocked. Next was a CT to get a closer look. On May 16, Sierra had her first CT, that evening the doctor called. They had found a tumor wrapped around the artery going into her kidney, which is what was causing the blockage. He wanted her to see oncology, the next morning.
At that point the doctor wasn’t sure what type of tumor we were dealing with. There were more tests, a PET scan, and an MRI. They knew they needed to remove the tumor, but her BP was not stable enough to do so. The doctor increased her BP meds and put her on a high salt diet. Taking 7 pills a day, they finally stabilized her BP and on June 19, 2019, she was scheduled for surgery.
We met with the surgeon in early June, where he explained that he could not do the procedure laparoscopically because the tumor was wrapped arpund the artery. Unfortunately, he was not confident he could save her kidney. The news was scary, she was just a kid.
We were admitted on June 18th for surgery the next morning. They expected it to take about 3 hours and she would stay inpatient for 2 or 3 days. Things didn’t go exactly as planned. They found the tumor was completely adhered to her kidney and the procedure took over 12 hours. Luckily, they were able to save her kidney, which today is functioning perfectly. The 5 cm tumor was removed as well as her right adrenal gland. She spent 8 days in the hospital with some small complications, including a spike in BP and she was again put on BP meds, but she was able to come home.
About week after being discharged the oncologist called and they found her tumor was a paraganglioma, which is what they suspected. Then genetic testing was done a few months later. The testing showed that she has the SDHB gene mutation. So, in the end she finally, after all these years was given a diagnosis of Hereditary Pheochromocytoma and Paraganglioma syndrome Type 4.
Sierra still sees oncology and has an MRI every few months. So far, she is doing great and has recovered wonderfully. She has been released from nephrology and we keep a close eye on her BP. She is currently not taking any medications and doing wonderful. We are so thankful for her amazing team of doctors who didn’t give up until they got answers and who worked tirelessly to perform her surgery. We are still learning about her condition and are hopeful that she will lead a long and healthy life from this point on.