Guest guest Posted June 24, 2005 Report Share Posted June 24, 2005 Heidi I'm glad you are getting some answers. I'm also glad your new PICC line is working. laurie > Hi All > The DNA bloodwork came back with all sorts of mutations, so I won't > be going to Atlanta for a biopsy. The big one was for LHON, plus 2 > other mutations associated with complex 1, plus a bunch of unknown > mutations that may or may not be diagnostic of anything. The dr. > told me that some mutations are associated with heritage, people from > northern europe sometimes have a change that causes the mitochondria > to be less efficient so more heat is produced, hence my family full > of " little teapots " (think of the song, hee hee), And the info will > be saved so as the field evolves we can compare my results to other > families. > > As far as LHON, the high incidence of blindness is pretty scary. The > ataxia and dystonia definitely fit, but I also have GI problems and > dysautonomia and we haven't found out a cause for that (except if we > assume that I have complex 1 def). Anyone else here with the Lebers > gene? is legally blind but we thought it was from RP and > cortical vision impairment. > > Other than that, things are stable. I had the PICC line replaced > because of a clot and now I have a new PICC that's working fine. The > IV fluids are going well. I'm zipping all over the place in a > scooter and the motorized chair should be here next month. My foot > drop is getting pretty bad on the right and I may have to consider > bracing but no big deal. I'm doing completely fine on formula but I > have this intense craving for MEAT. Beef in particular. With > spices, like teriyaki or A1 sauce. > > Does anyone have suggestions for food cravings? Especially non-oral > folks or people on formula like me. Don't mean to be graphic, but > does chewing and spitting work? One of the docs even mentioned a G > tube for venting so I could eat to maintain QOL but that seems a bit > drastic. Abdominal surgery for a meat craving? Yikes! > > is inpatient at NEMC in Boston. Anyone coming to Boston > soon? I'd love to chat. > > Take care > Heidi > > > > > Medical advice, information, opinions, data and statements contained herein are not necessarily those of the list moderators. The author of this e mail is entirely responsible for its content. List members are reminded of their responsibility to evaluate the content of the postings and consult with their physicians regarding changes in their own treatment. > > Personal attacks are not permitted on the list and anyone who sends one is automatically moderated or removed depending on the severity of the attack. > > Quote Link to comment Share on other sites More sharing options...
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