Leigh, Kym, William, Jorryn, and Macyn … and our adventures!

First, if you’re wondering about the paratrooper reference, go here: http://www.pheoparatroopers.org/. This is the patient run site for the condition that Leigh has.


On Tuesday, February 8th, I received a call from Karen Adams, the clinical coordinator for the Pheochromocytoma/Paraganglioma Clinical Research Study at NIH. Pheochromocytoma (pheo, for short), is a rare genetic condition that contributes to high blood pressure and the tumors that Leigh has been diagnosed with. The protocol for the study describes it better than I can:


“We are inviting you to participate in this study because we believe you may have pheochromocytoma, a tumor located either in or outside the adrenal glad, or may carry a genetic predisposition towards developing pheochromocytoma. Pheochromocytomas are a surgically correctable cause of chronic high blood pressure. The clinical features and consequences of pheochromocytoma results from release of substances called catecholamines (epinephrine and norepinephrine) by the tumor. We wish to know whether various biochemical and scanning methods will improve our ability to diagnose and localize a pheochromocytoma. In addition, we wish to find out if there are any specific genetic or other markers to predict the course, malignant potential, and recurrence of pheochromocytoma. Some of this testing is not available elsewhere and so may benefit you.”


Karen informed me that they see about a thousand cases (from all over the world) a year. Leigh has already been diagnosed with the paragangliomas, but this testing will help identify the cause (genetic markers) and location of the excreting tumor(s). It is common for paragangliomas to secrete these enzymes, however it is rare (a word we are rapidly getting used to hearing!) for paragangliomas in the head and neck regions to be pheos. So, they want to know if the tumors he has are in fact secreting, and/or rule out that he does not have tumors elsewhere, even though previous scans showed that he did not.


Because of the nature of this study, the program only has a certain number of scans that they may perform weekly, and, because of this, it would be quite a while before we would be able to be scheduled. Karen said that she was going to ask for permission to go over her allotments, and that she may be able to get us in to begin testing on February 22nd.


Later that afternoon, I received an email from Karen that, if we were available, she could get Leigh in THAT Friday to begin his testing! We, of course, accepted, and shortly thereafter, we received our schedule for the initial testing that Friday, and were told that the remainder of the testing would be scheduled for the next week.


Friday morning, we got up bright and early, and left the house about four in the morning to begin our long day at NIH! We arrived, went through all of the security procedures and Leigh began his labs and scans. We received the rest of the paperwork, and our schedule for next week, so things are well on their way!


As it looks now, we will be back at NIH most of next week for the remainder of the testing, and then once all of the results are back (about a week), we will have a definite diagnosis. The hope is that at this point, Leigh will be able to take the necessary medication, and we can then proceed with the surgeries.


Also, when he is positively diagnosed with pheo, we can begin genetic counseling, and he and his “first-degree” blood relatives will be able to have genetic testing performed. Aside from getting him healthy and back to normal, this is so important to us; we want to know for certain whether or not our girls (and his sisters and brother, if this gene is found to be from the paternal side of his family) have this genetic mutation, and if they do, find out what needs to be known and/or done so that they don’t have to go through what he is going through now.


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