Re: Re: Barb- MELAS

[Guest guest]

Darla and Barb,

Would you mind sharing with me anything that you may learn re suspected MELAS and negative blood work for such.

Darla, you mention that you have read on the Internet that sometimes a person can have MELAS and still show negative test results. Can you tell me where you read this please.

Like your child Darla my two daughter's appear to have medical issues due to MITO but blood work says negative so the Doctor's are not interested although they can give us no other explanation for their unusual medical issues.

Thanks for your help.

.

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.>