Re: - MELAS

[Guest guest]

Thanks Darla, I would appreciate this. So often when I read your e-mails to others they sound so much like something I could have written about my own two girls. I also believe that my daughter -Kay would not be here if she had been started on the Mito cocktail.

Our children all have dysautonomia in common and I feel they may respond to the Mito cocktail due to this.

Thanks again Darla,

Hugs,

.

Re: Son with IS > > > HI , my son Matt started with infantile spasms when he was > about a month old, i was told by the ped at the time not to worry, > that Matt was a premie and would be fine. At age 15 months old Matt > had his 1st gran mal seizure, and the seizures became daily. and > that got the ball rolling (so to speak), we went to see the neuro, > (i figured i would be told my son had epilepsy and that would be > that), they did a EEG, and it was abnormal, from there they ordered > an MRI, and that came back with white matter lesions. At this time > he was developmentally delayed, low muscle tone, fatigue, abnormal > gait, gerd, seizures. When we got the results we were told it wasnt > just epilepsy, Matt was started on seizure meds and it helped, but > more testing was needed, to find out what was going on, also at this > time Matts gerd was so severe, that he stopped eating and was losing > so much weight, he was diagnosed with failure to thrive and give ng > tube, and several months later when feeding therapy didnt help he > had a g-tube put in which we still use today (Matt is now 8 years > old). Matts neuro did blood work, which made him suspect mito, and > Matt had a muscle biopsy done. This confirmed mito, they believed > at the time (Matt was age 2 by now) that this was MERFF, We started > therapies (creatine and q-10) for Matt including OT, PT, Speech and > Feeding, behavioral therapies as Matt was diagnosed also with OCD, > SID, ADHD by age PDD-autism by age 3. He was doing great, gaining > weight, talking, walking, learning. Right before he turned 8 years > old he started to regress again, he was fatigue after any activity, > started with severe muscle spasm, cough varient ashma, and severe > migrains, and still incontinent over night, we went back to the > neuro, and he suggest we see a new specialist there a > neuro/metobolic specialist whos field is mito. He started with > looking at all of Matts history, and test. He then examined Matt, > we did more blood work, and a another of many MRI's to find MERFF is > not his diagnoses, we are now looking into MELAS with complex one, > as this is what all the new test is pointing too. WE just had blood > drawn a mtdna blood test, and hopefully that will give us answers, > if not we will have to do another muscle biopsy. I hate having him > go through all this, and unfortunely my most recent biopsy didnt > show which mutation we have (i to have mito), so i just pray we get > answers from the mtdna test. Then they will know how to better > treat Matt and hopefully slow down the progession of this disease. > Its fustrating, for him and for our family to watch him go through > so much, but hes an awesome child, son, brother, nephew, grandchild, > friend, boyscout, fisherman, ect... he's living life just like any > other kid, cant do all things most kids can do, but he loves doing > the things he can!! Hes loving and compassionate and hes dearly > loved!! he is now included in 3rd grade, (pulled for specials), > he'll be 9 in June, no one can tell ya what will happen in the > future, so we take the here and now as it is, and we make the most > of it each and every day. Matt has also been seizure free for over 2 > years now, and we are weaning him off of seizure meds. Look for the > silver linings and find joy in everything you do and as Matts neuro > told me a long time ago "look what Matt can do today" and thank God > for these support groups!! Good luck with your son, i hope he > doesnt have mito but if he does your in the right place. Barb > > > > > > > Please contact mito-owner with any problems or questions. >

[Guest guest]

I will have to do some research to figure out which site I read it at.

It was quite a while ago and I read tons of info from as many places as I

could. If I find it I will let you know. I do remember reading something

about 80-90% accuracy and thus the other 10-20% have to rely only on

symptoms and other labs.

Our girls definitely show lots of abnormal metabolic labs that indicate

Mito. Several acid levels off (amino, pyruvic...), metabolic acidosis

issues, lactic acidosis, low carnitine levels, low COQ10 levels, along with

tons of the symptoms you see in Mito (you can read lots in my signature).

Dr. Whiteman believes our family is dealing with a metabolic issue, most

likely Mitochondrial and treats the girls accordingly. They both take the

cocktail even though their biopsies only indicate a strong possibility

rather than " proof. " The cocktail has done wonders for Asenath and we can

only imagine it is also what is holding Zipporrah together. I know that if

she hadn't been helped as much as she has been in her short life that she

wouldn't be here. If we didn't have Asenath first and learn from her...

Zipporrah has shown things so much earlier and needed the G-tube by 6

months. Asenath really should have received one at 1 1/2 years, but didn't

till she was almost 3.

Sorry I am not too much help with specifics on MELAS right this minute.

SOMEWHERE in my bedroom I have lots of good web pages printed on paper with

loads of info. Maybe others can help here too.

See www.caringbridge.org/ia/mitomomof9 and www.heartbeatsformito.org (a

photo look into Mito)

Darla: mommy to

Asenath (5) Mito, CNS Vasculitis, strokes, migraines, seizures, G-tube,

hypotonicity, disautonomia, SID, global delays, cyclic vomiting, bladder

issues, some wheelchair use, eye issues, gastric emptying issues...

Zipporrah (17 months) Mito, strokes, neuro-motor planning, SID, GERD,

dysphasia, G-tube fed, speech delays, extreme fatigue, aberrant subclavian

artery, disautonomia, hypertonicity, migraines, possible seizures, dumping

syndrome, iron deficiency...

Luke (17)migraines, sensory issues, & some evidence of SLE's...

Leah (14), Rachael (13), Isaac (11), Tirzah (8), Kezia (4), Marquis (3)

Joey (15 months) with hydrocephalus, dysgenesis of the corpus callosum,

encephalomalacia & leukomalacia, G-tube, GERD, immobile, severe dev. delays,

left hemiplegia (arm)...

(15 months) SID, dev. delays, right hemiparesis issues...

Re: Son with IS

>

>

> HI , my son Matt started with infantile spasms when he was

> about a month old, i was told by the ped at the time not to worry,

> that Matt was a premie and would be fine. At age 15 months old Matt

> had his 1st gran mal seizure, and the seizures became daily. and

> that got the ball rolling (so to speak), we went to see the neuro,

> (i figured i would be told my son had epilepsy and that would be

> that), they did a EEG, and it was abnormal, from there they ordered

> an MRI, and that came back with white matter lesions. At this time

> he was developmentally delayed, low muscle tone, fatigue, abnormal

> gait, gerd, seizures. When we got the results we were told it wasnt

> just epilepsy, Matt was started on seizure meds and it helped, but

> more testing was needed, to find out what was going on, also at this

> time Matts gerd was so severe, that he stopped eating and was losing

> so much weight, he was diagnosed with failure to thrive and give ng

> tube, and several months later when feeding therapy didnt help he

> had a g-tube put in which we still use today (Matt is now 8 years

> old). Matts neuro did blood work, which made him suspect mito, and

> Matt had a muscle biopsy done. This confirmed mito, they believed

> at the time (Matt was age 2 by now) that this was MERFF, We started

> therapies (creatine and q-10) for Matt including OT, PT, Speech and

> Feeding, behavioral therapies as Matt was diagnosed also with OCD,

> SID, ADHD by age PDD-autism by age 3. He was doing great, gaining

> weight, talking, walking, learning. Right before he turned 8 years

> old he started to regress again, he was fatigue after any activity,

> started with severe muscle spasm, cough varient ashma, and severe

> migrains, and still incontinent over night, we went back to the

> neuro, and he suggest we see a new specialist there a

> neuro/metobolic specialist whos field is mito. He started with

> looking at all of Matts history, and test. He then examined Matt,

> we did more blood work, and a another of many MRI's to find MERFF is

> not his diagnoses, we are now looking into MELAS with complex one,

> as this is what all the new test is pointing too. WE just had blood

> drawn a mtdna blood test, and hopefully that will give us answers,

> if not we will have to do another muscle biopsy. I hate having him

> go through all this, and unfortunely my most recent biopsy didnt

> show which mutation we have (i to have mito), so i just pray we get

> answers from the mtdna test. Then they will know how to better

> treat Matt and hopefully slow down the progession of this disease.

> Its fustrating, for him and for our family to watch him go through

> so much, but hes an awesome child, son, brother, nephew, grandchild,

> friend, boyscout, fisherman, ect... he's living life just like any

> other kid, cant do all things most kids can do, but he loves doing

> the things he can!! Hes loving and compassionate and hes dearly

> loved!! he is now included in 3rd grade, (pulled for specials),

> he'll be 9 in June, no one can tell ya what will happen in the

> future, so we take the here and now as it is, and we make the most

> of it each and every day. Matt has also been seizure free for over 2

> years now, and we are weaning him off of seizure meds. Look for the

> silver linings and find joy in everything you do and as Matts neuro

> told me a long time ago " look what Matt can do today " and thank God

> for these support groups!! Good luck with your son, i hope he

> doesnt have mito but if he does your in the right place. Barb

>

>

>

>

>

>

> Please contact mito-owner with any problems or

questions.

>