My Thyroid and Parathyroid Test Results:

(for comparison purposes to test standard values)

My DNA Test results for MEN2a and familial Pheochromocytoma:

I have had DNA testing performed at Washington Medical University, Barnes Hospital, through Dr. Samuel Wells. I've also have the DNA testing performed by military research facilities as a volunteer in clinical trials in California. I tested positive for the genetic illness MEN2A, including Medullary Thyroid Carcinoma (MTC), parathyroid adenomas and pheochromocytoma. In the side of my family which has this illness, it has never skipped generations, and no relative seems to be completely free of some form of the illness.  Most of my family had problems which started at the onset of puberty, and that seems to be our family pattern.

I was tested positive for a Ret Protooncogene, with a mutation at C634Y in Exon 11.  This is characteristic for expecting that I will develop a Pheochromocytoma, although no signs had been found other than this DNA test, and some high epinephrine levels during "episodes". (Date: March 1999).

Since that time, I've tested positive for pheochromcytoma biochemically, with several Plasma Free Metanephrine tests. However, other older type tests, such as VMA still return negative. Scans found nothing but the expected MTC which is radical in my case. It was speculated that one or more could possibly be a very small pheochromocytoma. (Date: August 2006)

My most recent history includes a neck exploration by Dr. Orlo Clark (Mt. Zion Hospital, San Francisco, CA) in 1998.  At this time two parathyroid adenomas were removed. I had previously had another parathyroid tumor removed years before at Oakknoll Military Research Hospital, along with a complete thyroid removal at University of California San Francisco Medical Center because of advanced MTC.

Postoperatively, I have done well in terms of my calcium balance, but I have extensive damage to my bones, and I have a persistent focus of medullary carcinoma, the site of which is as yet unknown. These are called C-cells, or Calcitonin cells. I was to have another surgery in late 1998 to remove C-cells in both sides of my neck, and to explore and remove C-cells from my breast area, my collar bone area, and under my arms.  I was nervous and depressed over this radical extra surgery I was to have, and I was experiencing chest pains, bone pains and other unpleasant symptoms. As a result of these mentioned problems, I was placed on some medications to help deal with the pain and anxiety. For the first time in years, I felt as if I were a healthy person who could live a fairly normal day and night without suffering. Several days before the other exploratory surgery, a new MRI indicated that the C-cells in my neck and chest area were gone. I asked my endocrinologist, Dr. Francis Greenspan (UCSF Medical Center/Stanford University) if the C-cells had migrated elsewhere, and he said they don't do that. The tests above show that I still have C-cells, but not as much as before. I personally believe that the medications for pain and anxiety helped indirectly to help my body heal, but this is my opinion only. For the first time in many years, I was able to rest, sleep, and enjoy a higher quality of life. At this point, I still have a cardiology examination each month because of occasional high blood pressure and rapid heart beat, which is probably due to the unpredictable elevated epinephrine. Every three months, I am also tested to see if my doctors can find the source of my elevated Calcitonin and CEA levels. (Date: March 1999)

More recently, I've developed a problem once again with high calcium, higher elevations of calcitonin, and low potassium. I'm in the process of having numerous tests to find the causes. It is thought to be related to the MENS illness, which is likely. I no longer take medications for depression, as I have learned the cause of my depression through therapy, and I do fine dealing with this problem by myself for the time being. (Date: August 2006)

• View the entire "Report of Laboratory DNA Study - Molecular Diagnostic Laboratory"

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