newbie w/20 month old son - need advice

[Guest guest]

Well I wrote up a rediculously long intro late last week, but it

appears to have been eaten by yahoo... and i really dont want to

retype it... so... in a nutshell

Im 22, my 20 month old son has possibly been diagnosed with a

mitochondrial disorder (it is likely he inherited it from me, as i

too have a long twisted and bizarre medical history thats never been

explained).

Anyways, my son:

In Jan 2004 we had the first (rather dramatic) signs of trouble, he

had an 'episode' where over a period of a week he went from a

healthy happy, walking (running) toddler, to a very sick baby who

could barely lift his head (started out as stumbling with his toes

scrunched up and feet turning in, then he stopped walking, then

eventually couldnt even sit up anymore... all along he had an angry

red rash over his whole body, and started throwing up on day 3. he

needed IV for 3 days just to stay hydrated). initially it was

thought to be 'post viral cerebellitis' and he recovered quite

quickly and was walking again within 2 weeks. he didnt however make

a full recovery (he is still stumbly, and his feet still scrunch up

and twist in sometimes), and was still not saying any words by 16

months, so further testing was done.

His ongoing issues are: (this is what led them to think of

mitochondrial, along with my own issues which include kidney, heart,

adrenal, and nerve damage, as well as autonomic failure, 'white

spots' on my MRI, damage to my macula (eye), and the list goes on)

-His MRI shows 'increased signal' in the deep white matter, as well

as the globi pallidi (basal ganglia?).

-His carnatine is low

-His lactic acid is high

-His urine organic acids was abnormal (?? anyone heard of this?)

-His feet still 'scrunch up' (toes curled under), and turn in on

occasion (causes him to stumble)

-He gets frequent viral infections, and rashes that go along with

them

-He runs EXTREMELY high fevers for no apparent reason (last one was

end of june i took him to the ER with a temp of 106.8) that run for

a few days then go away.

-He is FINALLY saying 2 words, so were very happy about that!

-His hands tremble, especially when hes just waking up, we were told

this is likely due to the involvement of the basal ganglia (?)

however when hes concentrating on something, his fine motor control

is extremely good (can put pegs into a crib board!).

Im sure im forgetting stuff, but overall in spite of all that, he

isnt HUGELY affected by any one problem... his balance is not great,

but not terrible either... his talking is a concern (2 words at

almost 2 years), but the fact that hes learning to talk now is

reassuring...

What im seeking advice on is this. He has been referred for speech

therapy, however the waiting list (were in Canada) is about a year

and a half minimum. If I wanted to, I could get him in earlier, im

just not sure how necissary it is at this point. he hasnt been

referred for anything else yet...

Im curious about your experiences, and how you would reccomend I

approach this. If I wanted, I could have him in Occupational,

Physical and Speech therapy withing a couple months, however I not

only have no clue what they are, I dont know how effective they are

at his age... Given your experiences, do you think he would benefit

from these things this early one? what exactly do they do at each

different therapy, and what can they do at this age?

We see the genetic metabolic/mito specialist in September,

(hopefully earlier if theres a cancellation) and will likely

consider a muscle biopsy at that point, as well as any treatment if

she reccomends anything yet... If I want him to be in these

therapies, I will need to request a referral from her, so I need to

make that decision ahead of time, and go from there...

any advice would be awsome!

thanks!

Keely

(sorry so long!)