Mitochondrial Disease

[DonnaBallona]

Does anyone have an experience of Mitochondrial Disease?
My son has just been diagnosed with complex 1 and 4, wondered if there was anybody out there in the same boat as us and could tell me what to expect.

 

[annanouska]

its on the long sheet of paper to be tested for from samples we are doing next week. Sorry that's not much help we are beign tested for so many odd things that I don't even understand. How is your son? Are you coping ok x

 

[DonnaBallona]

is your LO having a muscle biopsy Annanouska? that's what my son had as a last resort to try and get a diagnosis for him. we've been running tests since he was 9 months old.

We are ok thanks.. just trying to understand the conditon really. Hope your sons biopsy goes smoothly.

 

[annanouska]

Errr not to my knowledge I thought it was just bloods but it says on the letter a lactation is required so has to be done on a ward not normal blood test and nobody has explained that. We have been on testing for over a year too it started as "it's likely autism" to now him having epilepsy and some random spots on the brain MRI which has now sent us down all these other lines with autism monitoring alongside. It's a really hard road isn't it xxx

 

[mummy3]

No experience but Always around if you want to pm and chat

 

[BlueHadeda]

We're also going to be tested for this!!

For a year now, the specialists has been saying they think my son might have a mitochondrial disease. But we've been sent from one doctor to the next, everyone ending in the "you need to see the mitochondrial specialist". But, the mitochondrial specialist in our small country, is so fully booked neither me nor the doctors could get my son an appointment!!

So the cardiologist has now put my son on carnitine (sp??) and q10. She said if he improves, she's going to try and work with the mitochondrial specialist, but doing the muscle biopsy herself. Because improvement on the medication will comfirm her hunch, that there's reason to believe he has a mitochondrial disease. Unfortunately, we'll have to take him off the medications for a couple of months before she can do the muscle biopsy. So at the earliest, we're probably looking at around March/April to do the biopsy.

So unfortunately I can't help you on what to expect, but I'd love to learn from your experience, if you don't mind? What did the biopsy entail? How long are they in hospital? Is it very painful?

And what's your son's symptoms? I guess it's your youngest son that's been diagnosed? Do they know what caused it? There's speculation that in our case it's inherited, because 3 of my children have different special needs. My son's biggest problem currently, is that his heartwall is thin (precursor to dilated cardiomyopathy) and he has been physically tired ALL of his life. Since he was about 4 months old, I've noticed it. As if his body just can't sustain his energy needs unless he rests inbetween.