Pheos and Children

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by Alison E., Texas

Caleb and Chloe

My husband Troy and I recently attended the First International Pheochromocytoma Symposium held in Bethesda, Maryland. It was exciting to be among all of the top pheo experts in the world but also a little daunting. I found myself in absolute awe of these wonderful doctors and researchers. My husband works in the music business, and we are around celebrities all of the time. However these masters of science had rock star status in my eyes! I, too, have done quite a bit of research, so I was familiar with the current protocol on how to diagnose and treat pheos. It was a privilege to have the opportunity to discuss and share with these dedicated men and women.

I wanted to share my personal experiences with pheos from a Mother’s perspective. I have two children that have experienced the wrath of pheos.

My husband Troy was diagnosed with VHL as a teenager (we have been together since we were teenagers). Once the location of the gene was discovered, we had our daughter Chloe tested at the age of 4. We started the screening process right away wuth Dr. Sharon Plon, a geneticist at Texas Children’s hospital.

Chloe was six when her urine catecholamines started climbing. Her primary symptom was sweating, especially at night. She also looked very tired most of the time. She had headaches as well, but didn’t complain about them too much. I remember visiting her second grade class and thinking that she just looked so tired and pale compared to all the other kids. That was kind of an eye-opening experience because I had gotten so used to seeing her look that way. My husband had had pheos as a child, and we knew from DNA testing that Chloe carried the VHL alteration, so we suspected a pheo.

With a positive DNA test and family history of pheos at a young age - what else do you need to start imaging? Yet during this time period, she was seen by the chief of pediatric endocrinology at a major hospital. He told us that there was “no way” that she had a pheo at that time despite her urine testing results, because she did not have sustained hypertension. He said that children with pheos always have sustained hypertension. While it is true some kids will have sustained high blood pressure, there are still children that will not. There are a number of myths about pheos, and this is one of them. At the conference we learned that 50% of people with hereditary pheos have normal blood pressure.

A year later her urine catecholamines increased even more, and that is when they realized this indeed could be a pheo. It was during this time that I contacted Dr. Graeme Eisenhofer at the NIH. He told me about a new test that he and others had developed called the “Plasma Free Metanephrine” test. This test is around 97% accurate compared to the 24 hour urine test which is only about 80% accurate. [1]

While Chloe was getting an IV for her MRI sedation, her blood pressure went through the roof. She is very dramatic and would rather be dismembered than have a needle coming at her. It was a high stress situation as it always is with Chloe and needles. Nurses ignored the dangerous high BP readings, claiming that “there must be something wrong with the cuffs.” I tried to tell them that these tumors cause high blood pressure, but my words fell on deaf ears. I was mild and soft spoken back then and believed the doctors and nurses had to know more than me. How could I possibly know more about these tumors than doctors?

After Chloe was sedated, blood was taken and sent off to the NIH for the Plasma Free Metanephrine test. Dr. Eisenhofer called me and said she had the highest numbers ever seen with this test. Because of all the stress with the IV, it was thought that she had an “episode” while in the MRI chamber. When they rolled her out of the machine, she was drenched with sweat. It took a lot of medicine to sedate her because of all the excess stress hormones in her system. After we got her home, she would not wake up from being sedated at the hospital. We called her doctor who said to bring her into the ER [emergency room]. She finally began waking up very late that night.

However, the night before surgery, because it is standard to draw the necessary labs, our pleas were ignored and blood was taken. (Today, I would ask the doctors to give me a written copy of their orders, so that I would be able to show the orders to the medical staff if another similar situation arose.)

Her surgeon was able to remove her three centimeter pheo laproscopically, and she recovered fully. Again, our excellent anesthesiologist, Dr. Nancy Glass, had to give her a generous amount of anesthesia because of the excessive catecholamines circulating in her system. The doctors could not believe that she was still wide awake and alert after all of the drugs they administered. They all clamored around her not believing what they were seeing. Chloe finally went to sleep, but only after a lot of anesthesia.

Thankfully she came through very well. She is thirteen now and very active in competitive cheerleading and theater. She is my expert in making PowerPoint presentations. Currently, she has three eye tumors that are being watched closely.

Two years after my daughter’s surgery, our son, Caleb, who is now eight, developed three paragangliomas (extra-adrenal pheos) on his aorta at the age of four. He is one of the youngest known cases world-wide. His biochemical testing revealed that his levels were two and a half times the upper limit of normal.

Since he was so young, we didn’t notice a lot of symptoms. When he was only two, he complained of headaches. We took him to a neurologist and told him of his DNA diagnosis of VHL with a predominance toward pheos, but he didn’t think we had anything to worry about. Caleb also had some night sweats, but that was pretty much it.

An MRI revealed two pheos. A follow-up MIBG confirmed it, and surgery was scheduled. Our nephrologist, Dr. Daniel Feig, admitted Caleb to the renal floor of the hospital where we were told that he needed to be on a high salt diet because of the alpha blocker -- phenoxybenzamine -- he was taking. But, because most renal patients are on a low salt diet, the nursing staff would not listen to us. We had to contact Dr. Feig so he could inform the nurses that this was correct and not a typo. Again, this wasn’t the norm, and it required us to be on our toes to make sure that the staff understood the reasoning behind every decision.

An “open” surgery was deemed best because of the location of his pheos. While they were in surgery, our surgeon found another pheo close to the other two that did not show up on any of the previous imaging. Needless to say, his surgery was a delicate one, and ended up taking eight hours. All was well until the day after surgery; he had a code-blue because of a problem with his epidural line. The epidural was threaded high up to ease the pain of his rather large abdominal incision and there was some excess epidural anesthesia in the line that affected his respiratory rate. Caleb turned completely blue as his oxygen saturation dropped to 9% (normal being 95 to 100%.) So far I had handled everything else fine until this happened. I still have nightmares about it. It’s something I don’t think I will ever get over.

Despite my knowledge of pheochromocytomas and the Mama Bear instinct to protect her young, this experience has made me realize I cannot control everything. That truth has been very difficult for me to accept. My personal way of dealing with the stress of this disease is to educate myself as much as possible. I want to know it all, the good, the bad, and the ugly. I want to know numbers, statistics, ratios -- you name it. Because pheos are rare and even more so in children, you have to become an expert.

Not only do I search out the absolute best doctors locally, but we also have a team at the National Institutes of Health (NIH). After attending the pheo symposium [see page 1] there are a few more doctors I’d like to add to my team -- so now we can have a local, national and international team! My husband laughs at this notion, but he knows I am dead serious. With such a rare disorder, why not seek out the experience of as many experts as you can? They are few, and you have to seek them out.

The biggest blessing we have had during this whole journey is the knowledge of our DNA testing results. Had we not elected to have our kids tested at a very young age, our victorious outcome might have been different. We know that 50% of all pheos are discovered at autopsy. And, yes, I truly feel victorious, because when and if another pheo appears, we will conquer it will the same faith and determination that has gotten our family through it before. Ultimately, I believe my children are in God’s hands and, in the meantime, He has blessed me by surrounding my family with excellent doctors and resources to learn more about VHL.

What about my children’s outlook on their experiences? Both of them recently asked when they could go back and have more surgeries at Texas Children’s hospital. They asked in a happy Disney-World like tone, without fear. An ever-protective Mother’s heart smiles when she hears questions like that, even though my jaw fell to the ground. I think it is extremely important to remain positive, especially when you are in this type of situation, because your kids will instinctively adopt your outlook. This is not difficult for me, because it is truly how I feel.

My biggest hope is that by sharing our personal experience with pediatric pheochromocytomas, Troy and I may be able to shed light on a rather dark area of medicine and hopefully help other families going through a similar situation. I got most of my knowledge from the pheo support board [2] as well as correspondence to all of the known pheo experts. We learn so much from each other!

See also the Report from the Pheo Conference Alison attended

Notes:

1. The Fractionated Plasma Free Metanephrines is the best test for a pheo. This lab test is only performed in a small number of labs, preferably at the Mayo Clinic, where many hospitals send blood for processing.

2. See www.vhl.org/pheo for pointers to the pheo support board and other pheo resources.

As printed in the VHL Family Forum 13:4, December 2005. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org. mystory