calling PDH families

[Guest guest]

Thanks for your responses. I will respond individually soon, but at present

I wanted to have an idea of numbers in the group, as our family is in the

middle of being filmed for an Australian current affair program about a

paediatric hospice (which we use for respite at this stage) and of course,

Gaby's mito disease. The journalist has been quite interested in PDH/mito

issues.

We have further filming today, then it goes to air (here in Australia)

tomorrow evening

talk more after that

ne, mumto gaby, aged almost 9 years, PDH, seizures (PDH and seizures

well managed with keto diet), g tu be, wheelchair, no definitive verbal

communication, but a mamory like an elephant for repetetive rhymes and

songs!! She sings all day long!!

[Guest guest]

Cole and Zack are 2--will be 3 the end of July. They are thought to

have a thiamine responsive form of PDH which can't be tested for with

the fibroblast biopsy. One child has a Complex 1 deficit, the other

does not--so the doc believes another disorder (PDH) is causing the

bad complex. We will have to do a muscle biopsy eventually. They

were a mess last summer before the mito diagnosis (ataxia, insane,

dystonia, seizures). They are much improved now that they are

treated-Dr. Whiteman always says they are the " least affected " kids

that he sees. They have a very poor tolerance for stress and

illness. Cole becomes quite autistic when he is in crisis

(suprisingly normal when he is not), Zack becomes mean. Both become

ataxic, hypotonic, and dystonic when in crisis. My kids also get

massive diarrhea when in crisis.

Kris

Cole and Zack

>

> Thanks for your responses. I will respond individually soon, but at

present

> I wanted to have an idea of numbers in the group, as our family is

in the

> middle of being filmed for an Australian current affair program

about a

> paediatric hospice (which we use for respite at this stage) and of

course,

> Gaby's mito disease. The journalist has been quite interested in

PDH/mito

> issues.

> We have further filming today, then it goes to air (here in

Australia)

> tomorrow evening

>

> talk more after that

>

> ne, mumto gaby, aged almost 9 years, PDH, seizures (PDH and

seizures

> well managed with keto diet), g tu be, wheelchair, no definitive

verbal

> communication, but a mamory like an elephant for repetetive rhymes

and

> songs!! She sings all day long!!