LHON diagnosis

June 24, 2005

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

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