Mitochondrial Disorder Information and video - Page 4

[hdirks]

just found this thread and wanted to bump it.

neurologist just mentioned testing for this and I think we are headed down that route.

DD has practically something on every level.....

The only thing is she hasn't ever really been medicall ill. two ear infections as a child and a only a couple colds since. she definitely has the developmental delays and autonomic dysfunction, deafness, strabismus, suspected hypotonic cp......the list goes on. Does this mean hers would not be progressive? (just the word progressive scares me as she is just now doing so much better progressing developmentally, I would hate to see her regress!)

Also we just did a water deprivation test where they were looking for diabetes inspidous but I know they tested urine and blood every hour. I do have those results........would the testing for this be different than testing for initial mito things?

Any advice would be GREATLY appreciated!

[sbgrace]

Hi. I had just opened your thread on hypotonic CP to see if it fit mito so I'm glad you're ped. is investigating the possibility. My son has an unspecified (undiscovered they think) metabolic condition affecting mitochondrial function.

Who you see for mito testing matters. It sounds like your neuro is aware. If you want to pm who and/or where I might know the person. We spent a lot of years with a list of dx. that fit but didn't my son.

He was declining but after we began treatment he became stable and has remained stable. When dx'd his Carnitine was extremely low and he had a lot of fatty acid metabolites built up so that was causing our declines. Those findings are specific to my son and not in all mito kids. We don't know what the future holds for my son. A lot of the doom and gloom was based on the severe kids initially diagnosed. Now we know many parents (hmmm...me) have lived with it in adulthood. So there are degrees of severity and progression and a lot of what you read is based on the more severe forms. My son is doing well. The hurdle we're unsure about at this point is puberty. Right now it looks like we're stable till then and maybe beyond. That's the hope.

[monocyte]

Thinking I belong here too...

Its been a really, really long road with my almost 4 year old, but we are finally doing a muscle bx and probably putting a gtube in at the same time....

will be back here later...

[jenrose]

God, so important.

Shiny has a chromosome disorder which happens to affect her CoQ10 production, but not in her blood, we suspect it is primarily in neural tissue and muscle. Supplementation with CoQ10, R-lipoic acid, multivitamin and DHA has been a godsend.

Symptoms that were telling for us:

Muscle tone issues

Periodic epsiodes that were almost "absence" seizures, where she would just STOP and seem to be recharging and then go on about her business. 

Total lack of hunger/fullness sensations

Constipation

Inability to retain language when she learned new words. (First, most obvious sign that supplementation was learning: She stopped forgetting old words when she learned new ones. Next big sign that we had a bad batch...she lost language again. Next sign that we were onto a new supplement... sudden two-word sentences and shared attention. Next supplement change: She started singing Beatles songs.)

Other kids with her exact deletion had kidney issues, electrolyte imbalances, more obvious seizures....

It took us almost two years to figure out not that there was a mito issue, but that it was treatable. I will ever mourn those lost years, as I think she'd be doing so much better if she'd had supplementation earlier. 

I figured hers out through google searches and reading the freakin' gene map and playing hunches. Turns out if one of her "missing" genes is mutated twice, you get double her problems, but all in the same area. Hm.