Weekend update (Mito conference) *HEY ED* and farewell

[Guest guest]

Hi all :-)

Wow, what a weekend!!! The Mitochondrial Disease conference was

amazing, very emotional, and full of information that I am still attempting

to get to stick in this brain of mine. The doctors were ALL very

accessible and willing to give advice and recommendations....something

we were all amazed at, there were just not any ego's here and it made the

conference a huge success. There were people there from as far away

as the Netherlands (a researcher) and Senegal, West Africa (a mom!!), all

over the US and Canada too. There were affected adults there, as

well as many parents of affected children, some that were very educated

in mito and knew alot of people there, and others that heard about the

UMDF and the conference literally days and weeks before the conference

and came to meet others for the very first time, and hear information for

the very first time. There was a nice contingency of docs there,

from the mito experts in the country, to the locals that were learning

this information for the very first time. I am thrilled to say that

almost ALL of my kids docs were there!! Most importantly right now,

their pediatrician was there, and she walked away with a new wealth of

knowledge and better understanding of this disease. Much like Myositis,

we came away with the understanding that there is still not alot known

about this disease, but with the hope that they ARE continuing to research

and gain understanding.

The UMDF (United Mitochondrial Disease Foundation) has set forth an

initiative to raise quite a bit of money over the next couple of years,

and it was incredibly inspiring to see what fund raising efforts across

the country have been able to raise so far. They were able to hand

out FOUR substantial grants while were there to researchers, and that was

SO exciting. And the local Ohio Chapter was able to announce what

they had made at their first annual fun walk/run the weekend before......$92,000.00!!!!!

Can you imagine!!! I still have goose bumps everytime I say it.

Our local group raised $150,000.00, in part to cover the expenses from

this very conference (the fee's they charge for families to come is far

less than what it takes to put one of these on), and to put towards research

grants, which so far is the largest fund raiser the UMDF has ever had.

It was a really inspiring thing to see so many contributing and how successful

they have been.

Ultimatly, it was an inspiring, hopeful, and emotional get together.

I was able to meet in person people I have known for years now online,

and was able to meet many that are not online and had never been able to

find others dealing with this disease. I literally talked till I

had no voice left!!! And I managed to make it through a very long,

busy week without feeling worse after the fact!! I've slept quite

a bit since Sunday, but I am okay!!

One thing that I heard and made me think of Ed (as well as myself) is

in regards to the muscle biopsy as well as the testing done on it.

This is information that I KNOW is not out there in the general medical

community yet, and it IS significant. Dr. Schoffner is one of

the top mito docs in the country (although only works on kids) and he is

in Atlanta. He is a researcher as much as anything else, so does

an incredible job of getting information from the biopsy's etc that he

gets from the kids, and has got to be one of the most humble men I have

ever met!! Anyway.....was sitting in on his session and he said that

LESS THAN 10% of mito is going to be detected via the basic

stains they do on biopsies looking for mitochondrial changes (these would

be the stains looking for ragged red fibers, mito proliferation, and COX

fibers)....these are the stains that are pretty much always done on everyone's

biopsy......and that they have found the Electron Microscopy is equally

as useless most of the time, and thus the absolute importance of doing

the Enzyme Essays on the muscle tissue. These would be the testing

that indicates how the respiratory complexes (or Electron Transport Chains)

are working, and that these are often (obviously at 90%) the only tests

that are gonna show the mitochondrial disease. I know that even though

they suspected it with me (the mito) these tests were NOT done.....and

I know that they generally are not. This is something to definatly

check into Ed in your case. If they have not been done, it may be

that they might give you all the information that you need. There

IS a doc in New York that specializes in getting this information from

Frozen tissue (less reliable than fresh tissue) and you can send whats

left of the biopsies they have already done, something I am in the process

of getting done myself. Let me know if you'd like the info on the

doc in New York and I'll be happy to share it with you. The other

thing that he said is that frozen CAN be okay, if its prepped very well

(there is much debate over fresh biopsies over frozen with mito because

when they are frozen (or what docs call "fresh-frozen") it makes it more

difficult to test the respiratory chains). The gist being though

that many don't know how to do it right, and there is degradation of the

sample all too often to get the information needed. I wanted desperatly

to ask when the rest of the medical community was going to get up to speed

on this, but didn't have the chance. Makes you realize how many out

there are still undiagnosed, simply because the right testing was not done.

Personally, I was able to talk to some docs (the kids mito doc was there

from Cleveland too) about me and the kids, had atleast one real revelation

and unexpected response, and otherwise had some things confirmed that were

hard to hear, but nothing I didn't already really know. My revelation

came from the pediatric cardiologist that spoke at the conference, regarding

the kids heart valve disease. Its very rare to see in kids this age,

so our cardiologists have not been real sure what to expect in the future

or whether we were doing all we should be for them, but ultimatly considered

what was happening to be still basically benign at this time. I shared

with the cardiologist what the issue was and asked if we were doing all

we could, what he thought the future held, and whether he would be concerned

about my son's problem only appearing in the last year (his ECHO last year

was normal, but showed the same problem as Madison at this years).

Fully expected he was going to say the same thing the others have, but

NO!! LOL He was very concerned, said the kids need to be on

meds to help the heart, that he felt sure they would need valve replacement/repair

sooner than later, if not more, and that he was very concerned about Chance's

showing up in just the last year. He immediatly said he wants me

to bring the kids to him (he's in Houston, about 6 hours away) where they

will do a much more advanced ECHO, will better determine what the real

issue is (he doubts its really a valve issue, but more a muscle issue that

support the valves), start them both on ACE inhibitors, and we'd go back

every 6 months for follow up and to chart progression. His biggest

concern being that we might have a sudden cardiac event in either child

at this point. Turns out this doc is who all the cardiologists in

Texas send their complicated cases to, so he knows our local cardiologist

and we don't have to worry about stepping on toes going to see him.

I am waiting to hear back from them when our appointments will be, and

trying to prepare myself for the news. His response was just very

unexpected, but then, reality is that we have not been able to speak with

a cardiologist that has experience with mito kids....heck, none of them

have ever even seen this problem in kids this age before!! So I guess

its not a huge surprise that they just didn't know.

As for things I knew, but didn't want to hear.......Madison needs to

see an endocrinologist now (issues with Ketoacidosis and what we suspect

are blood sugar problems) and this means she will have 8 doctors we'll

see regularly now (Chance has almost this many, Abby is gaining on them

now, as am I)......that the issues we have been seeing with our youngest

child Abby, ARE likely mito related (she was our only asymptomatic one),

further testing needs to be done, and we need to start her on the cocktail

they prescribe for mito......that the experts confirm the suspicion that

ours is a maternal inheritance and that they have little doubt that my

issues are mito related and not "just" myositis (as if myositis wasn't

enough), and that we need to get some further testing to determine the

DNA defect we are dealing with, that I need to start on the cocktail also,

and that there is a real chance that I will be acquiring other symptoms

and problems for here on out........and that they believe that the continued

neurological issues that my son is having are the result of continued further

damage being done to his brain and we need to try and figure out whats

happening and try to stop it, and that his issues with handwriting and

posturing with his hands are likely the start of muscle issues with him.

Its a tremendous amount to absorb, and was very hard to hear, even if I

suspected it was what they were gonna say. I actually almost didn't

ask because I didn't want to hear it!!! It DOES give us some guidance

though and some things we can try and do, and thats important. We'll

get some of this stuff done here and then we see the kids mito doctor in

Cleveland in August and will do more then. Just never does seem to

end. Gotta keep praying for a miracle and a cure!!

As for my farewell....well, things are just getting more and more hectic

here and I am having to simplify again, meaning letting go of some of the

email lists. I cannot thank you all enough for the help, concern

and support you have given me for the last 8 or 9 months.....its been absolutly

the thing thats kept me going and helped me understand what I was dealing

with. You all are amazing and strong people and will remain in my

thoughts and prayers. I'll be on for a couple more days, and anyone

that might need to contact me, please feel free to at kass@...

BIG hugs,

, DM/Mito(?)

proud mom to Chance(8), Madison(5) and Abby(4)- all with mito

Keeping the faith!!!