Differential diagnosis?
 

Hi. I realize that I'm an extremely bizarre potential case for PNH, being young (28) and female, and having less than 1.7% clonal mutations... not to mention the fact that this whole disaster manifested itself as a minor portal vein thrombus that did not a) kill me or b) debilitate me in any way (beyond a weekend in the hospital)... but as my doctors have so far not said a word about what might be wrong with me or provided any insight into where I might look for answers, I thought I'd ask other people that are dealing with this... so...
Is it possible that I have mutational clones (CD15, CD24, and a lovely FLAER array showing around 1.7% along with slightly (but sub clinically) elevated LDH levels and I DONT have PNH? Honestly, I'm young enough and stupid enough to be hoping for AML because at least then I can fight like hell, but because my doctor is taking the "wait and see" approach, I haven't had a BMB yet... and I just want to know. Is it possible? Has anybody else dealt with this? Is there anywhere I should be looking?

As a side note, this level of paranoia exists because I want to be a general surgeon, working with Doctors without Borders in sub-Saharan Africa or Haiti, and the idea of being tied to a massive industrial hospital complex in North America because of an incurable medical condition has me completely spooked... especially considering that I appear to be a complete freak of nature that nobody in my home state is prepared to deal with...

Thanks in advance...
-Jameson-

Jameson,

Were you already told that you have PNH? Have you had a flow cytometry test (the usual way to identify PNH)? A bone marrow biopsy may be necessary to pin down just what's going on and if it's PNH, PNH in combination with another disease, or something else. I hope you can get the tests necessary for a confirmed diagnosis soon, both because you don't want to risk another thrombus and because you are obviously concerned about where this will lead.

Your professional goal is admirable. I encourage you to think long-term about how to get there. Nobody your age would want to be tied to a hospital, but if you need treatment don't rule out being tied down temporarily rather than indefinitely. Once you have a diagnosis you can decide what to do about it. For example, if it's PNH then you could be cured with a bone marrow transplant. It's just too soon to speculate because you need more information.

Rather than make guesses or assumptions about your medical condition, work on finding out where you really stand. If the doctors aren't giving you answers, be more direct and specific. And if they still don't seem to be working with you, seek a second opinion at a major medical center. I would call the Aplastic Anemia & MDS International Foundation and ask where you can find the best specialists for suspected PNH in Iowa or the surrounding states. You can also talk to the PNH groups listed here. You may find out that you're not as unusual as you think.

I was told that I had findings that "...support a diagnosis of PNH" but that my hematologist wanted to wait and see. I was just wondering if anyone else had experienced mutational clones without PNH. I'm not scared yet, mostly because what's the point? But I don't want to alienate my medical team with speculation, especially when they seem to think that waiting is no danger.

and yes, my flow cytometry test is what led the pathologist and my hematologist to agree that my results showed evidence of PNH.

I would pursue a second opinion with a center/doctor who has extensive experience with PNH. It should not alienate your current team. If it does, you have to wonder what that says about them.

My husbands LDH was only 100 pts off of the normal range at dx. His clone size was 17. Both low enough that Solaris is not needed (we did not know that at the time and his old Dr. Started him on it) he is 30.
Did you find out your clone size? the granulocytes clone on your test determines the clone size.
PNH has come so far over the years treatment and understanding it wise. Although it effects everyone differently I assure you my husbands second dx of AA is much more difficult. As I can tell it seems AML is even tougher.
We were very scared as well at first and most of the info you get on a google search is outdated and scary! Solaris has made such a difference for a lot of pt and there are more and supposedly better drugs in clinical trials.
And PNH has gone away on its own in cases!;) I hope you get good news and if you have any questions I hope we can help.
I think that Neil posted a link to a PNH support site. Between Marrowforums and that one we have learned so much and seen great stories of people doing well w PNH.
Best of luck!

My son was dx at 17 yrs old but the dr thinks he's had this since he was 6, but wrongly dx with a platelet defect. They went through everything from cancer to lupus, till they said it just looks like a platelet defect. 10 yrs later they found out what it really is PNH. He is on soliris with no transfusions, and does everything he wants to do (except leave the country).:o With an ultra rare disease I dont think there is a typical or normal. I hope everything works out ok for you and good luck.