(Joanne) Question re: MELAS diagnosis

[Guest guest]

We are all on a cocktail which consists of compounded Carnitor, CoQ,

Riboflavin and Vitamin C. In addition we take B Complex.

We have tried creatine and lipoic acid on a several month trial with little

change noted. Some of us have trialed corn starch at bedtime.

Our 9 year old, has significant autonomic issues with heat/cold

(among other things). We did an inpatient trial of 24 hours of IV fluids

and started him on Florinef in June. We felt there was some positive

change. The dose was recently increased and we are carefully watching.

(During that hospitalization a team of docs who are Diagnosticians spent

hours with DH and I going over family history and reviewing all 's

records back from the beginning. Their decision was that they had no doubt

that we are dealing with Mito.)

Some of us are on Reglan and Prevacid for reflux and delayed gastric empty.

Another son has problems with too rapid a gastric empty.

We monitor fatigue levels and nutrition intake. We keep fluid intake up.

(Our son goes to school on a decreased day basis. The rest of the

school age kids miss numerous days due to fatigue and do altered days as

needed. None of us are late nighters. :-)

The four younger kids (ages 15, 11, 9 and 6) are followed by a metabolic doc

in addition to Pulmonary, GI, Cardiology, Orthopedics and an MDA Neuro. (We

have one left in OT and four receiving speech in school.)

The four older kids (ages 27, 24, 21, 19) and myself are followed by an MDA

Neuro who knows Mito better than anyone in our area as well as other needed

specialists.

The three oldest are in their own apartments. We have five at home.

We have all been through the gamut of metabolic labs on a repeated basis as

well as lots of other labs and tests.

The long list of symptoms reads like a bad stew receipe.

There are days I count the mito fog as a blessing as it leaves me unable to

focus or concentrate on some of what we deal with.

I continue to read and am so very thankful that a list such as this exists

to turn to.

Thanks for reading my ramble I know it was more info than was asked for.

Hugs,

Marie

_____

From: [mailto: ] On Behalf

Of Joanne Kocourek

Sent: Wednesday, October 19, 2005 12:34 PM

To:

Subject: Re: Re: (Joanne) Question re: MELAS diagnosis

Our daughters are currently taking: Coenzyme Q 10 (in extremely large

doses), Carnitor, Vit E, B2, B 50 Complex, Vit C, Selenium, Niacinamide, and

alpha lipoic acid. The doses are adjusted based on blood levels of some of

these supplements. Their activity levels vary from day to day dependent on

how they feel. They are allowed to rest when tired. If they push

themselves to do something that exceeds their reserves, they definitely " pay

for it " with migraine headaches, nausea, vomiting, severe aches, etc. It is

not uncommon for their lactate levels to be into the 100's with 4-6 minutes

of sustained activity. lies volunteers once every 2-4 weeks for 1- 1

1/2 hours at church to help with a mailing. She typically sleeps for 2-3

hours afterward and most of the next day.

In the past we tried Uridine and had major side effects to deal with and

BH4. The BH4 seemed to help with fluid balance for a few years but we lost

that beneficial effect and decided to stop it given the expense (thousands

each month).

Joanne Kocourek (mom to , lies, and )

visit us at: http://www.caringbridge.org/il/annakris

[Guest guest]

From what I read somewhere, cant remember where, There is a complex III

defect that is either similar or associated with a MELAS phenotype.

Does anyone know of this?

[Guest guest]

According to this site, yes, MELAS is occasionally associated with Complex

III deficiency.

http://www.neuro.wustl.edu/neuromuscular/mitosyn.html

" Cytochrome b (Complex III): Myopathy is most common phenotype; Occasional

MELAS. "

The emedicine feature on MELAS says Complex I or I+IV but doesn't mention

III.

http://www.emedicine.com/ped/topic1406.htm

" Measurements of respiratory enzyme activities in intact mitochondria have

revealed that more than one half of the patients with MELAS may have complex

I or complex I + IV deficiency. A close relationship appears to exist

between MELAS and complex I deficiency. The defect in complex I currently is

the best candidate for the underlying biochemical abnormality induced by the

mitochondrial deoxyribonucleic acid (mtDNA) mutation in MELAS. "

Barbara

> Re: Re: (Joanne) Question re: MELAS diagnosis

>

> >From what I read somewhere, cant remember where, There is a complex III

> defect that is either similar or associated with a MELAS phenotype.

> Does anyone know of this?

>