Re: Hi, New to list!!

[Guest guest]

Let me be the first to say WELCOME friend!!! Glad to see you made

it over to the list :-)

BIG hugs,

Kass

Britchick0074@... wrote:

Our son Dylan is 2 1/2 and was just recently

diagnosed with Partial PDH

(Pyruvate Dehydrogenase Deficiency). His Pyruvate is working

at only 50%.

It has taken over 2yrs of testing to finally get this diagnosis.

He had a

muscle biopsy in June 2000 which gave this result, Columbia University

in New

York were able to confirm this again through a skin biopsy also.

The first

lab his skin biopsy was sent to told us it was normal, that's when

the

Geneticist decided to send it up to Columbia. I have to admit,

though this

is a lousy diagnosis, we have a real sense of relief to finally

know what is

causing Dylan's delays. We have suspected Mito for a long,

long time.

Therefore it really wasn't too shocking when we finally were given

these

results a couple of weeks ago. Our Geneticist is now about

to ask if

Columbia can do a Gene Sequence to see if this "may" show where

the mutation

is. "If" this can be found then we will be able to receive

prenatal testing

if we decide to try for another baby. She has told us that

we have a 1 in 4

chance of this happening again as she believes this to be autosommal

recessive. Dylan is our only child and our priority right

now though!!

Okay, onto how this disease has affected Dylan so far. He

is severely low

tone, especially in his upper body. His legs are pretty strong

although he

will bear no weight through them. He is unable to sit unsupported

and cannot

crawl etc. He has constant athetoid like movements in his

arms and legs

which only totally cease during his sleep. Sometimes though,

they are hardly

noticeable. These movements started when he was 3mths old.

The ped and

Neuro at that time thought they may be infantile spasms, a 24hr

video EEG

ruled this out. He also had pretty severe "silent" reflux

as a baby. When

he was 18mths he had surgery which included a Nissen Fundoplication,

Gtube

placement, muscle biopsy, adenoidectomy and tubes in both ears.

The Gtube

has been a blessing!! He has gained 12pds in the last year,

now weighing

32pds. I have had to cut back on his Pediasure!! He

looks great though, not

"chubby", just right. He is pretty long, 36inches.

He also has seizures,

Generalized and Simple Complex Partial. These are pretty

well controlled on

meds, Depakote, Keppra and Klonopin. We recently weaned him

off Topamax and

presently very slowly weaning off the Klonopin also.

Dylan also has Cortical Visual Impairment. He will very rarely

track to the

right (his whole body has a preference for the left) with his eyes.

We have

a vision therapist who comes to our house once a week to work with

him. He

also receives PT, OT and ST, each twice weekly.

He had Pneumonia a couple of months ago and spent a week in Intensive

Care.

He bounced back well though, thankfully. The Ped is recommending

that he

gets a a Flu shot this year, he's never had this shot before.

Does anyone's

child get this also??

Though Dylan has had a Gtube for over a year, up until last Jan/Feb

he was

taking his full bottles by mouth with no problem. Then he

caught a bad cold

and shortly after also got Bronchitis. He was so sick and

wheezy that I

bolus fed his feeds in the day for 2/3wks. When he was better

I couldn't get

him to take a bottle. He can still suck but just doesn't

seem interested

anymore. Not sure if he got used to getting all his feeds

via the Gtube or

if the illness caused him to kinda lose this "skill". Has

anyone else gone

through this??

Anyway, I could go on and on but want to try to keep this short!!

I look

forward to getting to know you all and you're beautiful children

Heidi mom to Dylan 2 1/2 Partial PDH (Pyruvate Dehydrogenase Deficiency),

Severe Hypotonia and Develop Delays,Seizure disorder, Gtube.

Blonde hair,

big blue eyes and a smile and giggle that melts our hearts )

[Guest guest]

Tony & ne,

Welcome to the list. You have found a great place full of wonderful people with a wealth of information to share. I am fairly new to all this but the support and information I have learned from these terrific people her just can't be beat.

Again welcome to the list. Let us know how we can help you...

Horsley

mom to

Sensory Integration Disorder

Suspected Mito. Disease

[Guest guest]

Oh Heidi,

How I have just had tears flow down my cheeks as I read your post. It sounds so similar to my own little girl's story. Gaby is 6 and has PDH. She was diagnosed quite early. She also had horrible reflux and has had a fundoplication and gastrostomy button. She was breast fed for the first year, but when she developed a few months worth of viral I infections her swallow deteriorated. I have been trying to re establish oral feeds ever since, but as soon as I get Gaby swallowing jelly (jello?), she gets a cold or virus, and we are back to square 1 again.

Gaby has basically low tone, her lower limbs worse than the top. She sits, rolls and commando crawls, but this took some time to achieve. She too has periods of constant athetoid like movements in her arms when awake. They settle when she is concentrating on something else (like me singing to her!), or when she is asleep.

For a long time we thought Gaby was blind, as her cvi was so gross. However since starting the ketogenic diet, she is now fixing and focusing beautifully,though remains very short sighted.

Gaby is absolutely delightful, She has a web page if you would like to read her story (needs updating for this year) www.gabylavender.webhop.com

welcome to the group.

Keep in touch,

ne

(in Australia). Mum to Gaby 6 years, mito disorder, ketogenic diet, G Tube, microcephaly, seizures,global delays, and the prettiest smile. :

Please contact mito-owner with any problems or questions.

[Guest guest]

<< When he was better I couldn't get

him to take a bottle. He can still suck but just doesn't seem interested

anymore. Not sure if he got used to getting all his feeds via the Gtube or

if the illness caused him to kinda lose this " skill " . >>

Heidi, I was told by my daughter's OT that gtube fed children often lose

their sensation of hunger. This is because the brain connection between

mouth/chewing action and sense of fullness is lost. I do oral stim with my

daughter just about every time she is fed. There are special infant

toothbrushes available that are great for this; one brand is NUK. A regular

toothbrush is fine too, or teethers or probably even a pacifier if that is

preferred by your child. Using these items ice cold is great sensory input.

My daughter has been totally tube fed for almost a year and a half and still

often indicates she is hungry or responds positively when I ask if she is

hungry( she is non verbal).

Krisitine, Chelsea's mom(non-specific mito)

[Guest guest]

Welcome to the list.

I have a little guy who just turned 3. He has developmental delays, seizures, ataxia, vomiting spells, chronic diarrhea, reflux, possibly an enlarged heart and now, some stridorous breathing. He is still undiagnosed.

Our son had the flu shot last year and I won't do it this year. Two days after his shot last year he developed a new seizure type that we had never seen before and I have a hard time thinking that it is coincidence. I just don't have the guts to do it again this year.

Alison

Hi, New to list!!

Our son Dylan is 2 1/2 and was just recently diagnosed with Partial PDH (Pyruvate Dehydrogenase Deficiency). His Pyruvate is working at only 50%. It has taken over 2yrs of testing to finally get this diagnosis. He had a muscle biopsy in June 2000 which gave this result, Columbia University in New York were able to confirm this again through a skin biopsy also. The first lab his skin biopsy was sent to told us it was normal, that's when the Geneticist decided to send it up to Columbia. I have to admit, though this is a lousy diagnosis, we have a real sense of relief to finally know what is causing Dylan's delays. We have suspected Mito for a long, long time. Therefore it really wasn't too shocking when we finally were given these results a couple of weeks ago. Our Geneticist is now about to ask if Columbia can do a Gene Sequence to see if this "may" show where the mutation is. "If" this can be found then we will be able to receive prenatal testing if we decide to try for another baby. She has told us that we have a 1 in 4 chance of this happening again as she believes this to be autosommal recessive. Dylan is our only child and our priority right now though!!Okay, onto how this disease has affected Dylan so far. He is severely low tone, especially in his upper body. His legs are pretty strong although he will bear no weight through them. He is unable to sit unsupported and cannot crawl etc. He has constant athetoid like movements in his arms and legs which only totally cease during his sleep. Sometimes though, they are hardly noticeable. These movements started when he was 3mths old. The ped and Neuro at that time thought they may be infantile spasms, a 24hr video EEG ruled this out. He also had pretty severe "silent" reflux as a baby. When he was 18mths he had surgery which included a Nissen Fundoplication, Gtube placement, muscle biopsy, adenoidectomy and tubes in both ears. The Gtube has been a blessing!! He has gained 12pds in the last year, now weighing 32pds. I have had to cut back on his Pediasure!! He looks great though, not "chubby", just right. He is pretty long, 36inches. He also has seizures, Generalized and Simple Complex Partial. These are pretty well controlled on meds, Depakote, Keppra and Klonopin. We recently weaned him off Topamax and presently very slowly weaning off the Klonopin also. Dylan also has Cortical Visual Impairment. He will very rarely track to the right (his whole body has a preference for the left) with his eyes. We have a vision therapist who comes to our house once a week to work with him. He also receives PT, OT and ST, each twice weekly. He had Pneumonia a couple of months ago and spent a week in Intensive Care. He bounced back well though, thankfully. The Ped is recommending that he gets a a Flu shot this year, he's never had this shot before. Does anyone's child get this also??Though Dylan has had a Gtube for over a year, up until last Jan/Feb he was taking his full bottles by mouth with no problem. Then he caught a bad cold and shortly after also got Bronchitis. He was so sick and wheezy that I bolus fed his feeds in the day for 2/3wks. When he was better I couldn't get him to take a bottle. He can still suck but just doesn't seem interested anymore. Not sure if he got used to getting all his feeds via the Gtube or if the illness caused him to kinda lose this "skill". Has anyone else gone through this??Anyway, I could go on and on but want to try to keep this short!! I look forward to getting to know you all and you're beautiful children :)Heidi mom to Dylan 2 1/2 Partial PDH (Pyruvate Dehydrogenase Deficiency), Severe Hypotonia and Develop Delays,Seizure disorder, Gtube. Blonde hair, big blue eyes and a smile and giggle that melts our hearts ) Please contact mito-owner with any problems or questions.

[Guest guest]

Welcome to the Mito list Heidi!

e and

[Guest guest]

Welcome Heidi!!!!

Horsley

mom to 11

Sensory Integration Disorder

Susp. Mitochondrial Disease

[Guest guest]

Dear Heidi:

I was away for a week, so am just checking on my email. I have a daughter,

Leah,

age 3, who is still not offically diagnosed yet. But suspected mito. Anyway,

we

all (meaning family) get the flu shot. Because Leah was hospitalized once with

the flu. So if any one of us gets it, or her, it shouldn't be as bad. Plus she

had the shot for pneumonia. Even as a parent I love getting the flu shot. Go

for it.

Oh, Leah goes to school today. Can you believe it. It's that time of year.

Hey, I will have all three kids in school. Wow, what will I do with my time?

Heh, heh, I've already signed up for a class at the YMCA when Leah is in school.

Something for me. It feels good to know Leah is in good hands at school. Will

let everone know how it goes.

mom to Leah, age 3

Britchick0074@... wrote:

> Our son Dylan is 2 1/2 and was just recently diagnosed with Partial PDH

> (Pyruvate Dehydrogenase Deficiency). His Pyruvate is working at only 50%.

> It has taken over 2yrs of testing to finally get this diagnosis. He had a

> muscle biopsy in June 2000 which gave this result, Columbia University in New

> York were able to confirm this again through a skin biopsy also. The first

> lab his skin biopsy was sent to told us it was normal, that's when the

> Geneticist decided to send it up to Columbia. I have to admit, though this

> is a lousy diagnosis, we have a real sense of relief to finally know what is

> causing Dylan's delays. We have suspected Mito for a long, long time.

> Therefore it really wasn't too shocking when we finally were given these

> results a couple of weeks ago. Our Geneticist is now about to ask if

> Columbia can do a Gene Sequence to see if this " may " show where the mutation

> is. " If " this can be found then we will be able to receive prenatal testing

> if we decide to try for another baby. She has told us that we have a 1 in 4

> chance of this happening again as she believes this to be autosommal

> recessive. Dylan is our only child and our priority right now though!!

>

> Okay, onto how this disease has affected Dylan so far. He is severely low

> tone, especially in his upper body. His legs are pretty strong although he

> will bear no weight through them. He is unable to sit unsupported and cannot

> crawl etc. He has constant athetoid like movements in his arms and legs

> which only totally cease during his sleep. Sometimes though, they are hardly

> noticeable. These movements started when he was 3mths old. The ped and

> Neuro at that time thought they may be infantile spasms, a 24hr video EEG

> ruled this out. He also had pretty severe " silent " reflux as a baby. When

> he was 18mths he had surgery which included a Nissen Fundoplication, Gtube

> placement, muscle biopsy, adenoidectomy and tubes in both ears. The Gtube

> has been a blessing!! He has gained 12pds in the last year, now weighing

> 32pds. I have had to cut back on his Pediasure!! He looks great though, not

> " chubby " , just right. He is pretty long, 36inches. He also has seizures,

> Generalized and Simple Complex Partial. These are pretty well controlled on

> meds, Depakote, Keppra and Klonopin. We recently weaned him off Topamax and

> presently very slowly weaning off the Klonopin also.

>

> Dylan also has Cortical Visual Impairment. He will very rarely track to the

> right (his whole body has a preference for the left) with his eyes. We have

> a vision therapist who comes to our house once a week to work with him. He

> also receives PT, OT and ST, each twice weekly.

>

> He had Pneumonia a couple of months ago and spent a week in Intensive Care.

> He bounced back well though, thankfully. The Ped is recommending that he

> gets a a Flu shot this year, he's never had this shot before. Does anyone's

> child get this also??

>

> Though Dylan has had a Gtube for over a year, up until last Jan/Feb he was

> taking his full bottles by mouth with no problem. Then he caught a bad cold

> and shortly after also got Bronchitis. He was so sick and wheezy that I

> bolus fed his feeds in the day for 2/3wks. When he was better I couldn't get

> him to take a bottle. He can still suck but just doesn't seem interested

> anymore. Not sure if he got used to getting all his feeds via the Gtube or

> if the illness caused him to kinda lose this " skill " . Has anyone else gone

> through this??

>

> Anyway, I could go on and on but want to try to keep this short!! I look

> forward to getting to know you all and you're beautiful children

>

> Heidi mom to Dylan 2 1/2 Partial PDH (Pyruvate Dehydrogenase Deficiency),

> Severe Hypotonia and Develop Delays,Seizure disorder, Gtube. Blonde hair,

> big blue eyes and a smile and giggle that melts our hearts )

>

>

> Please contact mito-owner with any problems or questions.

>

>