calling all PDH families

[Guest guest]

Our family will appaer on an Australian current affairs program next week,

featuring Gaby

How many others in this group (or those you know of) have PDH..ages, current

condition? (seems there may be more than I had thought..)

I know only a few children in Australai with PDH,bu it would be nice to have

a broader picture of current kids

Thanks

ne, mum to gaby 8 years (PDH)

[Guest guest]

SEanne,

My daughter Lexi has a tentative Dx of PDH, but the test was not very clear. Her bloodwork last yr (taken when she was sick and in crisis) was the first time we've ever even had an almost name for her mtio condition. Labs came back saying that her enzyme levels were low but not depleted, so it's some form of PDH but no other info on that. My son has no Dx confirmed, as far as specific type of mito condition either...but again the suspicion is there.

ruth

mom to Mitch (9) and LExi (6), both mito affected and my treasures

[Guest guest]

Hi

I haven't posted to this list in a looong time! My son Dylan has PDH (partial), his pyruvate functioning at 50%. He is now 5yrs old and was diagnosed at 2yrs old, thru skin and muscle biopsies. Strangely though, his repeat MRI last year came back normal whereas the one we did at 2yrs of age was abnormal so the docs are now scratching they're heads a little over that!! We were involved last year in a clinical trial here in Florida for the drug Dicholroacetate. We left the trial after 3 months as the docs were concerned the drug was not targeting the area it should have been Dylan remains stable though very affected by his disease. He has severe low muscle tone, no head control at all so therefore no sitting up and so on. He is fed solely through Gtube though his swallowing has improved and we are about to take him for a swallow study. He also had the Nissen Fundo done when he was 2yrs old. He has seizures, pretty much under control with Keppra and Ativan and a very small dose of Klonopin. He has Cortical Visual Impairment which has improved over the years. Apart from the odd cold he stays pretty healthy, though this year he has developed seasonal allergies for which we give him Zyrtec. Dylan is also non verbal which is the most frustrating part. More than anything i wish he could communicate. He does make sounds and has the greatest giggle He also has involuntary movements which were very strong when he was younger. Now he's bigger they have slowed down though.

One issue we are having right now is with his sleep pattern. I can't seem to get him to sleep before midnight each evening, sometimes later. He generally wakes up at 10am each day, though on a Sunday, without fail he will sleep until 12 noon!! He is extremely irritable on Monday's and Tuesday's, it's as if he's crashing. Then from Wed on he's fine. He's always been late to bed but stuck in these cycles for the last few weeks now. I have tried Melatonin, it worked the first night and never again. The Neuro did tell me recently I can try again with an increased dose. Anyone else had sleep problems? I would be so grateful for any advise

I tend to mostly just read the posts on this list, but would like to participate more. My life just gets hectic as I'm a single mom, split up with my husband a year ago. So between Dylan and working 2 jobs life is busy!! I do have wonderful nurses though who come in 6 days and 3 nights a week. The night nursing has been wonderful as I once again have somewhat of a social life which has been great

Take care

Heidi mom to Dylan 5yrs Partial PDH

[Guest guest]

My son Sheldon (possible PDH) also has sleep problems. It is

usually very hard to get him to sleep before 11:30, he usually falls

asleep in bed with us after I do. He usually naps for half an hour to

an hour and a half during the day so at 2 1/2 he usually gets about 10

hours of sleep a day. He is very slow to wake up in the morning, we

often have to get him up and it's often an hour or two before he'll

eat or drink anything. We're going for a sleep study in about a

month.

Hi

I haven't posted to this list in a looong time! My son Dylan has

PDH (partial), his pyruvate functioning at 50%. He is now 5yrs

old and was diagnosed at 2yrs old, thru skin and muscle biopsies.

Strangely though, his repeat MRI last year came back normal whereas

the one we did at 2yrs of age was abnormal so the docs are now

scratching they're heads a little over that!! We were

involved last year in a clinical trial here in Florida for the drug

Dicholroacetate. We left the trial after 3 months as the docs

were concerned the drug was not targeting the area it should have been

Dylan remains stable though very affected by his disease. He

has severe low muscle tone, no head control at all so therefore no

sitting up and so on. He is fed solely through Gtube though his

swallowing has improved and we are about to take him for a swallow

study. He also had the Nissen Fundo done when he was 2yrs old.

He has seizures, pretty much under control with Keppra and Ativan and

a very small dose of Klonopin. He has Cortical Visual Impairment

which has improved over the years. Apart from the odd cold he

stays pretty healthy, though this year he has developed seasonal

allergies for which we give him Zyrtec. Dylan is also non verbal

which is the most frustrating part. More than anything i wish he

could communicate. He does make sounds and has the greatest

giggle He also has involuntary movements which were very

strong when he was younger. Now he's bigger they have slowed

down though.

One issue we are having right now is with his sleep pattern. I

can't seem to get him to sleep before midnight each evening, sometimes

later. He generally wakes up at 10am each day, though on a

Sunday, without fail he will sleep until 12 noon!! He is

extremely irritable on Monday's and Tuesday's, it's as if he's

crashing. Then from Wed on he's fine. He's always been

late to bed but stuck in these cycles for the last few weeks now.

I have tried Melatonin, it worked the first night and never again.

The Neuro did tell me recently I can try again with an increased

dose. Anyone else had sleep problems? I would be so

grateful for any advise

I tend to mostly just read the posts on this list, but would like to

participate more. My life just gets hectic as I'm a single mom,

split up with my husband a year ago. So between Dylan and

working 2 jobs life is busy!! I do have wonderful nurses though

who come in 6 days and 3 nights a week. The night nursing has

been wonderful as I once again have somewhat of a social life which

has been great

Take care

Heidi mom to Dylan 5yrs Partial PDH

Please contact mito-owner with any problems or

questions.

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