LHON diagnosis

[Guest guest]

Glad you found out more info, hope they can use it to help you out.

I was wondering, what lab did the DNA bloodwork? Did have

the same bloodwork done?

I'll be in Boston in August, but not sure whether I'll be there by

myself or with the family. Glad your PICC is doing well. I always

craved meat when I was pregnant, no chance of that LOL? I am on a

high protein diet, so I eat a lot of meat and my mito symptoms seem

better on that type of diet.

Take care,

RH

> 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

[Guest guest]

Heidi,

I am sure you are having mixed feelings about this news. It is kind

of scary to think about what might happen. Of course you have already

been dealing with that. On the other hand I am sure it is a relief to

finally get some definative answers. I am so glad you found some

answers and I hope that they help you in your treatment.

Joanne

[Guest guest]

PREGNANT??? Bite your tongue! The factory's closed. Surgically. For

good. Lack of :::ahem::: doesn't hurt either. I never craved meat

before the glucerna diet. I eat all kinds of meat but I wouldn't

consider it a high protein diet. I usually crave coffee and chocolate!

lol

The bloodwork was done at BU. never had these specific

mutations checked. I guess the plan is to track down her muscle biopsy

slides and send them for the DNA testing, plus some additional things.

If you stay at the Double Tree hotel across the street from the

hospital they give out free chocolate chip cookies!

Heidi

> Glad you found out more info, hope they can use it to help you out.

> I was wondering, what lab did the DNA bloodwork? Did have

> the same bloodwork done?

>

> I'll be in Boston in August, but not sure whether I'll be there by

> myself or with the family. Glad your PICC is doing well. I always

> craved meat when I was pregnant, no chance of that LOL? I am on a

> high protein diet, so I eat a lot of meat and my mito symptoms seem

> better on that type of diet.

>

> Take care,

> RH

>