2001 started off with a bang (and more than just fireworks), as Chance was having a very hard time, and Madison was getting more and more lethargic.  We decided in late December 2000, that it was time to do what was needed to make a trip to one of the Mito doctors possible.  It became a much more complicated process than it needed to be, but ultimatly we decided to go to Cleveland, Ohio to see Dr. Bruce Cohen at the Cleveland Clinic Foundation and our appointment for both kids was February 26th.  In the meantime, we decided to start Chance on Coenzyme Q10, one of the supplements commonly given to children with Mito, to see if there was any chance it might help him.  We decided to not start Madison on anything and wait to see what Dr. Cohen thought.

        The next two months were filled with getting things arranged to make the trip, and we were blessed to be able to fly with American Airlines, through their Miles for Kids in Need program, for free...all four of us.  We were also fortunate that there was room for us at the local Ronald McDonald House there, so our expenses in getting there and while we stayed were really minimal.  This was crucial for us to be able to make the trip, and we are very indebted to these organizations for having both these programs available.

        Our visit to Cleveland was an amazing one.  Dr. Cohen was outstanding as a physician, and very caring and understanding of what we had been going through.  After years of searching for answers, it looked like we had finally found ours.  After examining both the kids, more tests were ordered and he let me know that this was a likely diagnosis for both children.  We were there for three days, and in that time accomplished seeing Dr. Cohen, a full range of blood and urine testing, eye and heart testing, and skin biopies on both kids.  The medical personnel were wonderful and everyone was just exceptionally kind to us while we were there.  It really is one of the best experiences I have had since beginning this journey.

        There were a few revelations about Madison while we were there (as usual with her).  The first came when Dr. Cohen examined her MRI films and shared with me that Madison's brain stem is undersized and this is something he commonly see's in Mito.  Then during the heart exam (Echo and EKG) we discovered that Madison has Mitral Valve Prolapse with mild to moderate regurgitation.  And finally, during her skin biopsy, for the first time ever, we had a hard time getting the bleeding to stop, prompting the doctor doing the biopsy to ask numerous times if she was on some kind of blood thinning medication.  All new, not so fun things to deal with further after we got home.

        Madison was started on the "cocktail" of Coenzyme Q10, Carnitor and Periactin (in hopes of improving her appetite and eating), while Chance was left on the Lamictal and CoQ10.

        We came home, exausted but feeling like we were finally on the road to some answers.  I was afraid to get my hopes up too high, but they were higher than they had been in a long time.  We found a local cardiologist to monitor Madison's MVP, and began trying to get some testing scheduled to determine if there really is a bleeding problem, or if it was just a fluke.  And we waited......

        In late March, ironically enough while we were in seeing our local neuro for follow up on both kids, Dr. Cohen called with some news.  Some of the test results were in and the most telling was Madison's skin biopsy.  It was grossly abnormal with excessive mitochondria that have all but taken over the sweat glands and ducts.  Additionally, Chance's Lactic Acid was elevated, Madison's ammonia was elevated, and both kids were over-excreeting Carnitine in their urine, producing a near deficiency in the blood.

In his opinion, all these indicated a Mitochondrial Disease, and we finally had our answer.  Still didn't have specifics as to which defect it is, but atleast we finally know what the overall diagnosis is.  Both kids are responding well to their individual "cocktails" (we have added Carnitor to Chance's also), and our doctors here have a little better understanding of whats happening with both of them.  There is further testing happening on the skin biopsies, and we should know in June if there is any more specific information to be had from either of them.

        After much thought and contemplation, we have decided to NOT proceed with a muscle biopsy on Madison in hopes of getting a more definitive diagnosis at this time.  Unfortunatly, there are no real treatments for Mito, so knowing the specific defect right now really doesn't change what we are doing.  It would require taking Madison off her "cocktail" for two weeks before the biopsy, and I am just not willing to do that to her right now.  At some point in the future, our opinion might change, but for now, we are okay with an unspecific mito diagnosis for the kids.

        So, one part of our journey ends for all intents and purposes, and the new one begins.

[Page 1:Medical History and Diagnosis]
[Page 2: History 1996-1998: birth to 2]
[Page 3: History 1999-2000: 3 - 4 yrs old]

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