Re: New here - LIZ

[Guest guest]

hey liz,

thanks for looking at the website. that picture of anna grace is

now 2 years old, but it still kind of looks like her. she is just

much longer now, with a little shorter hair!

anyway, we do still see dr. cohen but only like once every 1-2

years. and then we also see dr. carol greene at childrens hospital

in dc. we live in western maryland.

anna grace does not have seizures on a regular basis. her first one

was this past halloween night, and it happened after she fell and

hit her head...she had 3-4 that night, was put on seizure meds and

then weened off a few months later. they are hoping those seizures

were " contact " seizures, casued by the fall.

anna grace did always have feeding issues....starting with poor suck

when born, followed by not tolerating formulas, to not tolerating

textured foods. the gtube was a very hard decision, but one of the

very best things we could have ever put her through.

she was on a mito cocktail for a while back when first dx with mito,

but we saw no difference and dr. cohen ran blood work while she was

on cocktail and while off, with no difference.....so she is

currently not taking any meds or vits, except zantac for reflux.

She was first dx with mito at about 14 months, then with leighs a

year later. I was not expecting leighs (our family friend, david

campbell-wish upon a cure-had passed away from leighs, so i knew how

terminal it could be) and it was very hard to accept, but now both

my husband and our families i think are dealing very well...just

enjoying everyday and being thankful for having anna grace in our

lives. (i do still think about her prognosis, and get very sad, but

can snap out of it pretty quickly)

would love to know more about milo.

feel free to email me directly.

bethany

> > > Hi my name is Liz and I have a son, Milo [14 months old]

> > > who is suspected of having COX deficiency or Leigh's

> > > Disease based on his March 2004 MRI results. He just

> > > had a muscle biopsy here at UCSF (san francisco) and they

> > > sent the frozen muscle to Columbia in NY.

> > >

> > > His MRI shows symmetric irritation/inflammation of the brain

stem

> > and

> > > basal ganglia. His docs would not give a prognosis except to

say

> > > he will either improve a little or start to deteriorate.

> > Everything I

> > > read about Leigh's is very negative. They did put him on

COQ10,

> > > Vit C and Carnitor. He has had seizures since he was 2 months

old,

> > is

> > > hypotonic and delayed. He can roll over but cant sit

unasissted

> > > or walk. He has never had feeding problems.

> > >

> > > So I was very interested in reading about Dr. Shoffner and the

> > Fresh

> > > vs. Frozen debate. Milo's neurometabolic doctor feels that the

> > frozen

> > > biopsy is as accurate and I guess I also wasn't excited about

> > making

> > > a big trip to Atlanta or Cleveland and coming home with a

> > > fussy baby. I am hoping that the frozen biopsy does not turn

out to

> > > have been a waste of time. We're also hopeful that they can

find

> > the

> > > gene causing the problem.

> > >

> > > There is no chapter of UMDF in my area, (Northern CA) but I

did

> > join

> > > the UMDF, its been a great resource.

> > >

> > > Thanks for reading!

> > >

> > > Liz, mom of Milo [14 mos]