Wednesday, June 20, 2012

UMDF 2012 Conference: Saturday

Session 1: Navigating the Medical World with a Child with Mito, Jodie Vento
·        This session offered the opportunity to create yet another to-do list! This one is more about being and staying organized with health history, medical records etc. It’s going to take a while to compile everything even though I already have a large portion done. I think it will help in the long run, but goodness it’s going to be tedious.
·        My favorite tip was: Be nice. Yelling, screaming, being demanding never gets you anywhere. The doctor’s staff will tell the doctor if you are mean.
o   I think you can be nice and ask for things, otherwise if you don’t your job as a parent advocate is pointless.
Session 2: Nutritional Considerations Lynne Wolfe
·        Miralax: there is a recent running debate on the extended use of Miralax. For Will, it works. Do I want him to stay on it forever, no. But that might be our only choice. So, here we stay and experiment getting him off it when things are going well. Note, most people mess up the dosing and it’s 1 gram / kilo of body weight. 17 kilos is in 1 cap full of Miralax. So, likely I am under dosing Will which says that likely he may not actually need it. We shall see.
·        It’s suggested that Mito kids eat a high protein diet. Carbs make mito worse because it can inflame something. I didn’t quite catch what, but I figure the basic principle is keep the carbs low. Shocker….
·        We are likely going to include a bed time snack for Will now as it should help his body recover while he sleeps. This time you want it to be a good carb and a protein. The good carbs like peanut butter or cheese will stick with him through the night and the protein will help break it down.
·        Someone suggested cornstarch with pudding as a good option, but it causes constipation so that we shall avoid.
Session 3 & 4: Living With Mito Panel discussion AND Ask the Mito Doc. I combined these sessions because most of it was patient specific issues and questions. I learned bits and pieces of stuff, most of which I’ll capture somewhere else.
Session 5: Summary of the Clinical and Scientific Meetings. This conference is somewhat unique in that it combines researchers, doctors and patients/families. So earlier in the week there was a series scientific and clinical meetings where a variety of super highly technical “stuff” was presented and discussed. This session was to break it down for the families as to what was going on.
·        My favorite nugget of news was that if the Mito complex work load increases then so does the output in Complex 5. So in theory, if Will is exercising and moving around his Complex 5 might push out some more ATP. His mutation affects Complex 5. Kind of an interesting thought, increase exercise increase ATP. But where is the line where too much exertion actually hurts him. I’ll file this in my “Things that make you go hmmm” file.
·        Exome sequencing and Next Gen testing: since we have a diagnosis I didn’t pay as much attention to these issues.
o   Exome testing is brand new with a high volume of output, but not a high volume of help. It’s too much information that researchers and doctors do not yet know how to analyze. Plus, it takes 3+ months to get results
o   Next Gen is kind of the same thing, but focuses on a more narrow panel of DNA.
o   The long and short of it is that we are close, but it’s not ready for mega-consumer use yet.
I promise the next post will be more fun and have pictures! Did you join the UMDF advocate page yet? Please please consider doing this. It's the only way our voices will be heard.

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