Re: Lactate levels in blood -

[Guest guest]

"You wouldn't base a diagnosis of mitochondrial cytopathy on lactate levels alone. "

I meant: when the only metabolic test with abnormal results were the lactate blood levels. All other tests have been normal (MRI, aminoacids, organic acids, acylcarnitine, CK, etc.) so far.

Besides that our doctor is suspecting a mito diagnosis bases also on my son symptoms of 'three organ systems involved': muscle weakness, hypotonia, deafness, gerd, developmental delays, vision problems, choreo-athetoid movements, etc. However, those symptoms could be also the results of my son's neonatal complications given the fact that he was born prematurely and pretty sick.

Marie

[Guest guest]

,

Did you notice improvements after your son was started on the mito cocktail? Is he still on that? Since that is one of the treatments our doctor will probably give my son, I would like to know if the cocktail helps in any way. I have read that it differs from child to child and that no scientific evidence has been gathered to prove its efficacy.

Marie

[Guest guest]

> Besides that our doctor is suspecting a mito diagnosis bases also on my

> son symptoms of 'three organ systems involved': muscle weakness, hypotonia,

> deafness, gerd, developmental delays, vision problems, choreo-athetoid

> movements, etc. However, those symptoms could be also the results of my

> son's neonatal complications given the fact that he was born prematurely and

> pretty sick.

The thing is--if you don't have tests to back up a diagnosis, then you will most

likely have troubles getting physicians to act upon the diagnosis. Our daugher

has

a host of problems---heat intolerance, possible bleeding disorder, SID, anxiety,

hypoventilation, fatigue (uses w/c for distances), left hemiplagia CP with

spasticity

in both legs, chronic sinus infections (has had two sinus surgeries and is on

abx

ALL the time, has failed trials without them), asthma, GERD (post Nissen, and on

meds), abnormal sleep studies, periodic oxygen use, weight loss, inconsistent

height gain, early signs of puberty (aged 7), migraines with auditory and visual

aura

(onset age 4), g-tube, lactose intollerance, dysphagia, etc. She has normal

intelligence but appears to have a learning disability in math, poor balance,

and

poor fine motor skills. She was born at 22 4/7 weeks and all is blamed on that.

No

real mito labs have been done for her.

Our son is 16. He has high pyruvate (precursor to lactate), low ceruloplasmin,

and

some slightly low organic acids. Lactate has never been drawn. Some other labs

have been falling (CoQ10, etc) but are still slightly normal. He has

dysautonomia,

peripheral neuropathy, resistant migraine, chronic diarrhea, recurrent GI

bleeds,

GERD (with esophageal erosions), joint pain, fatigue, type 1 von Willebrand's

disease, short term memory loss, cognitive function loss, depression, anger,

?eosinophilia in GI tract, etc. All is blamed on psychiatric issues.

A clear cut diagnosis is needed if you want to get diagnosis and not be

questioned

about the care your children receive. I know of people who have been reported to

the state as abusing their children because of (sometimes in spite of) a lack of

a

clear cut diagnosis.

Have you looked into a fresh muscle biopsy?

[Guest guest]

> Did you notice improvements after your son was started on the mito cocktail?

Our son isn't and never has been on the cocktail. We can't even get the pedi to

acknowledge its existance. We will hopefully be able to start it after we get

our

official diagnosis.

[Guest guest]

" Did you notice improvements after your son was started on the mito cocktail?""Our son isn't and never has been on the cocktail. We can't even get the pedi to acknowledge its existance. We will hopefully be able to start it after we get our official diagnosis."

,

Sorry I addressed this questions to you. It was a mistake. It was meant for Kathy Foley.

Marie