After learning I would not be receiving any further help from the oncologist or my PCP figuring out what is going on, I had to move on to my next plan of attack. For a variety of reasons – including the obvious reason that I am very symptomatic and had a suspicious Octreoscan finding from January – there is no way I can just give up. My current plan is to try and gather some more hard evidence and then, with the help of the Wizard, try again with another specialist.
I am getting very impatient waiting for the results of the genetic test to come back from the NIH. If I do have MEN-1, I am most likely a “sporadic” case (i.e., I don’t have a clear family history of MEN-1). I already know that roughly 40 percent of clinically confirmed sporadic cases do not end up with a positive genetic test. But I would like to know for sure. In the event I do have a positive genetic test, it would certainly speed things up. The NIH informed me in January that the test would take three to six months to come back and I am just hitting the three month mark now. So, I decide to go and see a geneticist myself to talk about the test and perhaps order one privately as well.
I was very glad M and I went to see the geneticist. He took a very thorough history. I told him what had been going on over the past few years and didn’t even really get into the details of the last few months when he put his pen down and paused for a moment before saying: “Your chest. You have a big red spot in the middle of your chest. Does your chest get red like this often?” Of course I said “YES!” and proceeded to tell him what had been going on. He responded with “There are neuroendocrine tumors called carcinoids. I think you might have one. You need to get this looked into and soon.” I wanted to run around the other side of the man’s desk and hug him.
He finished taking my history and was simultaneously impressed with what I had managed to figure out on my own through my various efforts and horrified that despite the fact something was obviously and horribly wrong, it had managed to get dismissed by so many doctors. It turns out this particular geneticist tends to get a lot of difficult cases and he clearly enjoyed these cases. Music to my ears at this point!
I received a formal dictation from him in the mail by the end of the week, with the following conclusion: “There is an indisputable need to exclude multiple endocrine neoplasia type I and if necessary, type II, and for this purpose I obtained your blood sample for sequencing and deletion/duplication analysis. If results are negative, consideration will be required for other possibilities including a polyendocrine inherited disorder. I am willing to work with you until we can solve your troubling issues. This may require further visits.”
You have no idea how much those last two sentences meant to me. This is all I ask. A couple of intelligent and caring doctors to work with me to chase this down until we figure it out one way or the other. I already have my endocrinologist, the Wizard. Now I have the geneticist too. We WILL figure this out. They are not going to give up on me when the going inevitably gets tougher. I am starting to feel a little hopeful we might actually crack the case reasonably soon.
Of course, as luck would have it, I get a call from a genetic counsellor at the NIH later the same day. My genetic test for MEN-1 came back negative. He was very happy to deliver this reassuring news to me, but as I explained to him at this point I had bittersweet feelings about the news. MEN-1 is a very scary diagnosis, and we both agree that it would be a life-changing diagnosis. On the other hand, I am sick and I can’t get treatment for whatever is wrong (and in my mind, MEN-1 is still the most likely candidate) until I know what it is. The negative test result therefore doesn’t help us figure out what IS wrong. The genetic counsellor confirmed that the genetic test does miss a large percentage of sporadic cases and that although a positive result can definitively confirm MEN-1, a negative result cannot rule it out.
Furthermore, after an extended conversation about what was going on with me, the genetic counsellor revealed that the NIH did not run the “full” genetic test on me. The genetic test that was conducted was for the sequencing only – not the deletion and duplication analysis. Sequencing is similar to looking for spelling mistakes (e.g., the letter “G” should never follow the letter “Z”). It doesn’t pick up cases where whole pieces of code have been duplicated or are missing. He told me that because suspicion for MEN-1 was low, they decided not to do the full genetic test but that if I did end up getting diagnosed with MEN-1 clinically, I should let them know and they would run the duplication and deletion analysis. Grrrr….. Needless to say, I was glad I did my own “audit” of the genetic test and saw a geneticist on my own. And maybe it won’t make any difference at all that only the sequencing was performed. But to me, it still highlights the importance of asking questions and fully understanding exactly what tests have been run and what they mean. Had I not asked a million questions and pushed back with the genetic counsellor, I would not have received this information on the phone.
I should have the results of the second genetic test back in two weeks. I am fully expecting the results to come back negative, given the negative findings from the NIH and the high proportion of negative tests for sporadic cases in general. However, I will still rest easier knowing that I did everything possible to thoroughly investigate MEN-1 from the genetic side. More importantly, I now feel I added a really valuable doctor to my team, one with an entirely different perspective and with some new thoughts on differential diagnoses as well.