Re: Son with IS

[Guest guest]

We don't deal with IS but wanted to welcome you to the group anyway. I

hope you are able to make connections in the group and are able to get some

of your questions answered.

See www.caringbridge.org/ia/mitomomof9 and www.heartbeatsformito.org to see

a photo look into what Mito looks like

Darla: mommy to

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

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

bladder issues, wheelchair for distances, eye issues, autistic behaviors,

gastric emptying issues...

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

dysphasia, 100% G-tube fed, speech delays, extreme fatigue, excessive

phlegm, asthma, trach issues, aberrant subclavian artery, disautonomia,

hypertonicity, migraines, possible seizures, dumping syndrome, iron

deficiency...

[Guest guest]

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

[Guest guest]

>

>

> Hi -

>

> I am new to this group. My son, Alec, had a muscle and skin biopsy

> last week that we are waiting for results from. I was wondering if

> anyone else in the group has had a child that had Infantile Spasm

> seizures and was then diagnosed with a mito disorder. If so, what

> type or disorder? Alec started to have seizures the day we brought

> him home from the hospital after birth (myclonic) and then started

> having IS at about 2-3wks old. Was actually diagnosed with them at

> 1 month of age. Any info would be greatly appreciated. You can

> contact me either by responding to this message or through our

> caring bridge site. www.caringbridge.org/sd/alec

>

> We currently just added carnitine, vi-daylin, and co-enz q-10 to

his

hello. i also am new to this group. my son didn't start having

seizures until he was almost six years old, however he just had his

muscle biopsy the end of january. none of my son's past metabolic

dr's ever looked at him for mito disorders even though over 5 years

they couldn't make sense of his lab work. i have faith that our

current dr's are looking in the right direction. i know that you

will soon get the answers you need. the hardest part so far is the

waiting for the results. goodluck. keep us updated.

> meds.

> Thanks for your help!!