A Gaby update

[Guest guest]

Hi everyone.

I have been reading posts regularly, but Gaby has been keeping us quite

busy at the same time. Thought it was time we updated!!

Gaby' PDH is largely under control ,still with her keto diet. No new

seizures either.

She has recovered well from her hip surgery late last year, but instead of

her mild scoliosis improving with her hip dislocation repaired..it is far

worse. Her scolioisis is now more than 50%, and she is off to see the

orthop. specialist again today for advice.

She has always had some mild autistic tendncies, which have not bothered

us, but over the last year she has been yelling for long periods,

particularly at school, or in crowded places. After mucg investigations

(EEGs, telemetries etc..) a Prof feels this si Obsessive compulsive

disorder; something he has seen quite a bit of in children like Gaby with

neurological/mito disorders over the years.

He has used a combination of 5-Hydroxy-L Tryptophan, and Seroquel (special

authorisation for this use only), which we have agreed to trial.(anything at

present to stop her yelling)

I would be interested if anyone else has had similar experiences.

Like most Mito kids, Gaby is still a bit unique to her team of specialists.

Despite her presenting symptoms (microcephaly, and cerebral atrophy at bith,

uncontrolled seizures, dysmotility, swallow dysfuntion. ?CVI.?deafness, CP

etc, she has defied the odds.

Once on the keto diet, it became evident she wasn't blind or deaf, her

seizures stopped (and so did all the meds), she sat up and began to crawl,

she can verbalise and sing (though all by memory, not so much spontaneous),

and is such a funny delightful little girl!!

So you can see, we are keen to trial these meds if it will continue to help

improve her quality of life.

Her general health remains the least of our worries..for some reason, she

has managed to remain quite robust and healthy, (though those first 3 years

were a nightmare!!)

ne, in Australia, mum to Gaby (PDH)plus 3 more older children, and wife

to Tony,