It was the annual Mito Conference this past weekend.
Kristi Wee's over at Baby(food)steps on facebook took notes and shared throughout the conference. A big thank you Kristi! I was able to feel plugged in and knowing that Kristi is quick on her feet I knew she would catch all those little nuggets of valuable data I love to hear about. She shared just the highlights of the data, enough to keep me entertained via google until the conference gets released.
The one bit of data that I keep repeating in my mind is one shared by Dr. Cohen,
#mito2014 Cohen estimates (in his patient population) 15% primary mitochondrial disease (genetic confirmation) 1% secondary and the rest (over 80%) are "possible" mitochondrial disease
15 percent of patients are primary.
1 percent secondary
and 80 percent "POSSIBLE"
So out of a 100 mito patients 84 of them could possibly have Mito or NOT.
Of course this is in reference to his patient load, but I would think he has a reasonably rounded representation of what most Mito Specialists handle.
By the time a patient ends up in a Mito Specialists office it is likely they have seen many other Specialists who have failed to be able to identify the disease process. So, if we have ruled everything else out, Suspected Mito it is. My question is, have they really ruled everything else out? Probably not. A Mito Specialist is just that, going to focus on Mito. In order to rule out everything else you have to find Specialists who specialize in everything else.
To me, Dr. Cohen's comment was TERRIFIC news. It means you might not have Mito- which is the best news you can get. No one in the right mind wants Mito or jumps to accept it. It about the most awful thing a Dr. can tell you.
Lucky you are if you are part of that 80 percent. Maybe you have another disorder that can be treated and/or cured.
Maybe by next year they will have sorted all those "possible" patients and those patients have found Specialists that might be able to help.
Or, maybe they will have found more definitive ways to diagnose Mito.
No gene, no absolutes, pretty good odds this year we have good reason to keep looking. Actually at 80 percent? We would be irresponsible not to keep looking.