Re: New Member Intro/Kass&co

[Guest guest]

Thank you, Kass.... and Marie.... and Arlene

-- Beth

Re: New Member IntroWELCOME FRIEND!!!! Glad to see we (finally) got you over here and know you'll learn a ton while here. These are without question the most informed parents I know!! BIG hugs, Kass, proud mom to Chance(9), Madison(6), and Abby(almost 5) Beth wrote: Hello- I'm new to this group and wanted to introduce myself. My family has been on quite a journey for several years and we still have little in the way of real answers or concrete dx. This past year (2002) brought some unexpected twists and resulted in a new direction for our dx search. My husband and five children (ages 10, 8, 6, 2.5-yr-old twins) are affected with "it", whatever the "it" is. Within the past few months, we have learned that we have a non-specific myopathy, but also have some indicators of central nervous system involvement. At a recent drs appt, the ped neuro told us that he considers us to have some sort of "energy crisis" going on, but no one has been able to figure out what kind. Our oldest child (10 yrs) had a muscle biopsy done in the fall, and we are currently waiting on Dr Shoffner's final report. We have summary reports with the histology and oxphos results, and also several other things that were checked and came back negative. The histology results showed a non-specific myopathy, with significant fiber size variation (greater in the type 1/osphos dependent fibers). I had expected black and white oxphos results, but instead got "funky numbers" (the words of our neuromuscular specialist). We are anxiously awaiting Dr Shoffner's final thoughts on the matter. Our family first heard of mito in 1995, when my husband's nephew (17 mos at the time) had a stroke. The reason for his stroke was never determined, but MELAS was a leading possible dx. At that time, we had two children with strange, unexplained neuro stuff going on and I pushed for a "real" dx and reason for our kids' hypotonia, delayed development, and other issues. We were told repeatedly (a pattern that still repeats itself, as recently as a new pat appt with an internist on Dec 26, 2002) that mito could not be a possibility because "mito disorders are maternally inherited." We argued then, citing an internet article (that we found after our nephew's stroke) that described a case that was paternally inherited, but the argument fell on deaf dr ears. I have many, many questions and hope to learn a lot from you all. Our ped neuromuscular specialist did think that beginning supplements (carnitor and CoQ10) is reasonable, and I'm currently looking for any and all advice on that matter. He gave us scripts for carnitor and the dosage range for CoQ10. One question I have re: the CoQ10 is does anyone know if it's advisable to "cut down" the dose if you're using the Q-gel (hydrosoluble) form... I keep getting told by the folks at the various vitamin companies that a lower dose of Q-gel is just as effective as a higher dose of "regular" CoQ10... and I'm getting very, very confused. The cost of starting the family on it is staggering to begin with, but if/when we do it, we sure want to be doing it in the most useful, cost-effective way. So far, only my husband has started the carnitor.... thought being that he could better recognize adverse effects of it, as the dr was very concerned about side effects. We went ahead and started the carnitor because it was "on hand" while we try to figure out how/where best to get CoQ10. I'm also interested in hearing other people's experiences with biopsy reports from Dr Shoffner. I'm wondering just how "funky" my daughter's oxphos numbers are. And I'm also curious about what to expect in the way of a final report from Dr Shoffner. Also, has anyone seen Dr Shoffner's associate, Dr Dougherty (she's the director of "metabolic" part of the lab, wiht him doing the "molecular" part)? Thanks- -- Beth Please contact mito-owner with any problems or questions.