NIH visit two

Here's the update from our second visit to NIH.

Lori was scanned via CT and PET with contrast while at NIH. This last trip differs from the first in he number of scans and the different agents used to highlight the tumors. Put simply, since NIH now has a baseline for tumor size and location it is much easier to track without having to put Lori through the full battery of CT / PET/ MRI scans with 3 different contrasts/ radioactive elements unless something significant changes are noticed on the first run of scans. In other words, if the tumors haven't gotten a lot larger or spread to new locations, there is no need for additional testing. After getting to NIH on Saturday, Lori had a blood draw Sunday morning and the 24 hr jug to test for catecholamine levels. Monday was a full body CT with contrast followed later in the day with a PET scan. Tuesdays are always clinic day. That is where patients meet with the individual research fellow that follows their progress. After that we met with the head of the research protocol Dr. Pacek. He gave us what I consider to be extremely good news all things considered. Only two of the six tumors have marginally grown in size. The others appear to be the same size as the April scans. There also appears to be no new tumors in any other locations. I was absolutely ecstatic at hearing this. Dr Pacek indicated the tumors showed to be stable, which he also confirmed as good news in this situation. During the first visit to NIH, in addition to the genetic testing of Loris tumor samples, they also tested for genetic mutations of the succinate dehydrogenase complex. There are 4 subunits within this complex and a mutation on any of the 4 can increase the chances of developing a pheo/ para or other types of tumors depending on the specific mutation. Some of these mutations can be passed down from generation to generation, so once a pheo/ para is discovered, genetic testing is the best way to determine of direct relatives also need to be tested based on the mutation that may be found. The four subunits where mutations have been found are known as SDHA, SDHB, SDHC, and SDHD. Lori was tested for the last 3 listed and was negative for all three. That means she did not have any of the most commonly found mutations known to happen within pheos/ paras. These three subunits are also known as tumor suppressing genes where as The results of the testing for the new genetic mutation known to cause the secondary polycythemia type symptoms listed in earlier posts was also negative. Dr. Pacek indicated he was unsure if the negative test was due to the quality of the the tumor tissue sent to NIH from University Hospitals or not. He did indicate they have different procedures for preserving tumor tissue samples than other hospitals due to the research mandate. Since our first visit in April, Dr pacek indicated he had confirmed two more people with the unnamed genetic mutation and wanted to retest Lori's DNA and tumor DNA. The age at which Lori began showing symptoms of the elevated red blood cell counts and started her entire medical journey, was still in line with the other four people already confirmed to have this new mutation. This mutation can be inherited. Dr Pacek indicated there will be more information available when he publishes a paper on it in an upcoming New England Journal of Medicine. Like I said before I am overjoyed by the news that the tumors have not spread or show signs of being aggressive. The results of the genetic testing most likely will not be known for some time. We should be going back to NIH toward the end of October or early November depending on the NIH schedule.

That's all for now....