Weird diagnosis, and DMDs when it's not RRMS?

[writer74]

Finally reviewed my lab results with the neurologist today, and I'm kind of confused. Apparently i'm in mystery diagnosis land.

My CSF protein was elevated, but had no oligoclonal bands. One of my long-chain fatty acid ratios was also high (like 1.5 and the normal lab range is <.8) but my other ones were normal, suggesting that I have some evidence of adrenoleukodystrophy but not enough lab results to support that diagnosis.

My neuro thinks that I have a combination of a mild form of leukodystrophy and primary-progressive MS, given the extent of the lesions in my brain. Despite that, she's going to put me on DMDs anyway. I'm not sure what I think about that because they've never been proven effective in primary-progressive MS, and I actually don't have primary-progressive MS for sure.

She's going to look into drug assistance programs because my insurance only covers 60% of the cost of DMDs and I definitely can't afford the difference. Meanwhile she's starting me on a 5-day IV infusion of solu-medrol starting tomorrow for the flare that I'm currently in.

Has anyone else been prescribed disease-modifying drugs when their diagnosis ISN'T relapsing-remitting MS? i don't even know if this should be posted in this particular forum since most people are still waiting to get a diagnosis. I now have one...but only sort of, and I'm confused!

[22cyclist]

writer74: I can understand your confusion. Is your doc an MS specialist? The only reason I ask is because she is diagnosing PPMS based on the number of MS like lesions in your brain. Normally, PPMS patients have a large volume of lesions in their spine as well as well as a history of symptoms that do not let up (no remission) at all. Is this your history? Or, have you had times of relapse and remission? This is how the diagnosis is normally made, by history of symptoms and MRI lesion load.

So, she may be questioning her diagnosis and that is why she is starting you off on a DMD to see how you respond. I hope that it works for you, and that you find one that works for you.

Best of luck
Lisa
Moderation Team

[writer74]

I don't know if my neuro is an MS specialist; she certainly seems to know much more about the subject than the previous neurologist I saw did. The problem is that I'm apparently kind of a unique case. I have tons of lesions in my brain, but very few in my spine. As I posted, I have some lab work consistent with leukodystrophy.

I've had significant memory loss for 10+ years, poor balance, some bladder issues. I don't really know if what I have is relapsing or not. I do know that I haven't really been GOOD in at least 10 years, but I do have some times that are worse than others. I've been in a bad state for about the past 6 months.

I get the sense that I don't really fit any diagnosis but my doctor is going with PPMS because there isn't anything else she can diagnose me with instead. I've done a ton of research and it appears that she's right. I don't seem to *really* have MS as far as I can tell but there are enough symptoms that it can fit within that category. does that make sense? Even my neuro said "you meet the criteria for MS, but I'm not really convinced that's what it is. You seem to have a hybrid of something else."

[MSer102]

If you have a unique case then it might be a good idea to get another opinion from a neurologist at a large clinic like a university medical center. If that's where your current neurologist is then I think you should go to a doctor at a different one.

The more unusual your case is the more sense it makes to get more opinions from doctors who are used to diagnosing unusual cases. In you position I wouldn't be satisfied with being diagnosed by a doctor who isn't sure what I have and is willing to settle on calling it a hybrid just to cover herself. That's what other expert opinions are for.