's intro

[Guest guest]

Hi, my name is Heidi and my daughter is 15 1/2 months old.

was a preemie due to a malformed placenta and things have

just gotten more interesting sice then. I'm not quite sure what to

write to tell you what's going on with . The VNA lady asked

me what her primary diagnosis was and I had no clue what to say. She

just had bloodwork and a skin biopsy for metabolic stuff and mito,

but no diagnosis yet. She has terrible GI problems and has a G-J

tube with the g tube to drainage and the j tube for tiny feeds of

neocate. She has a broviac and gets TPN 20 hours a day. She has

neuro involvement with seizures, dystonia, delays, and autonomic

disregulation. She has some kind of renal involvement, possibly

RTA. She has lung issues and is on a monitor at night. So, what's

the main problem? I guess it's that 's body just doesn't work

the way she wants it to. She is a bright, happy, wonderful toddler

who wants to get into things and explore like other kids her age.

I've gotten over the fact that may not ever be 'typical' but

I just want to keep her feeling good. The TPN has worked wonders.

She's trying to move around by wiggling and scooting, and I wouldn't

dare leave her on the bed now. She used to be so wiped out by any

movement that she had to take a nap after laughing and playing peek-a-

boo. Now, it's a 40 minute nap maybe twice a day!

I'm looking forward to talking to folks who have the same

experiences. We've met up with some great families at the hospital,

and it was nice to talk to people with similar issues at home. Nice

change from the typical playgroup scene where I have to spend too

much time explaining everything and not have anything really current

to talk about.

Thanks!

Heidi, 's mom

[Guest guest]

Heidi,My 2 sons have a complex 1 and 4 defect in OxPhos. Your daughter sounds very similar to them. They too are TPN dependent 24 hrs a day. Both have g tubes for draining and J tubes which they have stopped tolerating feeds through - though we are able to get a few meds in. Most meds we do IV but there are a few they get that do not come IV. Both have significant renal tubular wasting for all lytes and minerals including bicarbonate - I guess it is kind of a step beyond renal tubular acidosis though that is how they started out. Both have significant autonomic dysfunction, endocrine failure, seizures, coagulation problems and bone marrow failure. Sam has heart failure and lungs issues and like your daughter is on monitors at night and often oxygen these days. if you'd like to read more they have website which is www.caringbridge.org/wi/zachsamif you look at past journal entries I have their history up until a few years ago posted. Also I don't know if you are interested but (who already wrote you) and I are on a wonderful email list for families who have children on TPN plus there area few young adults on the list who are on TPN). Most everyone has the severe GI problems and many have both the G and J tubes, etc and quite a few have mito. if interested go to yahoogroups. com and type in TPN support. I will say that the list tends to be very very busy though - hard to keep up with some days. Even though it is only a small list everyone is pretty chatty. However, it has been a great source of support and so nice to meet others who are cooking up TPN every night and dealing with sepsis, etc. I sure remember the difference in Sam's energy level when he first started TPN. I resisted it for months but finally when he was 18 months old we started it. At the time he lay on the floor most of the day and a 1/2 hr of PT would render him asleep for the rest of the day. Once he got some TPN in him he was a different baby and started growing and developing - it was sunshine in my eyes. he is 6 1/2 now - still incredibly tiny at only 35-40 pounds (depending on how his heart is handling fluids) but developmentally can walk and talk and learn new things. Anne 's introHi, my name is Heidi and my daughter is 15 1/2 months old. was a preemie due to a malformed placenta and things have just gotten more interesting sice then. I'm not quite sure what to write to tell you what's going on with . The VNA lady asked me what her primary diagnosis was and I had no clue what to say. She just had bloodwork and a skin biopsy for metabolic stuff and mito, but no diagnosis yet. She has terrible GI problems and has a G-J tube with the g tube to drainage and the j tube for tiny feeds of neocate. She has a broviac and gets TPN 20 hours a day. She has neuro involvement with seizures, dystonia, delays, and autonomic disregulation. She has some kind of renal involvement, possibly RTA. She has lung issues and is on a monitor at night. So, what's the main problem? I guess it's that 's body just doesn't work the way she wants it to. She is a bright, happy, wonderful toddler who wants to get into things and explore like other kids her age. I've gotten over the fact that may not ever be 'typical' but I just want to keep her feeling good. The TPN has worked wonders. She's trying to move around by wiggling and scooting, and I wouldn't dare leave her on the bed now. She used to be so wiped out by any movement that she had to take a nap after laughing and playing peek-a-boo. Now, it's a 40 minute nap maybe twice a day!I'm looking forward to talking to folks who have the same experiences. We've met up with some great families at the hospital, and it was nice to talk to people with similar issues at home. Nice change from the typical playgroup scene where I have to spend too much time explaining everything and not have anything really current to talk about.Thanks!Heidi, 's momPlease contact mito-owner with any problems or questions.

[Guest guest]

Heidi,My 2 sons have a complex 1 and 4 defect in OxPhos. Your daughter sounds very similar to them. They too are TPN dependent 24 hrs a day. Both have g tubes for draining and J tubes which they have stopped tolerating feeds through - though we are able to get a few meds in. Most meds we do IV but there are a few they get that do not come IV. Both have significant renal tubular wasting for all lytes and minerals including bicarbonate - I guess it is kind of a step beyond renal tubular acidosis though that is how they started out. Both have significant autonomic dysfunction, endocrine failure, seizures, coagulation problems and bone marrow failure. Sam has heart failure and lungs issues and like your daughter is on monitors at night and often oxygen these days. if you'd like to read more they have website which is www.caringbridge.org/wi/zachsamif you look at past journal entries I have their history up until a few years ago posted. Also I don't know if you are interested but (who already wrote you) and I are on a wonderful email list for families who have children on TPN plus there area few young adults on the list who are on TPN). Most everyone has the severe GI problems and many have both the G and J tubes, etc and quite a few have mito. if interested go to yahoogroups. com and type in TPN support. I will say that the list tends to be very very busy though - hard to keep up with some days. Even though it is only a small list everyone is pretty chatty. However, it has been a great source of support and so nice to meet others who are cooking up TPN every night and dealing with sepsis, etc. I sure remember the difference in Sam's energy level when he first started TPN. I resisted it for months but finally when he was 18 months old we started it. At the time he lay on the floor most of the day and a 1/2 hr of PT would render him asleep for the rest of the day. Once he got some TPN in him he was a different baby and started growing and developing - it was sunshine in my eyes. he is 6 1/2 now - still incredibly tiny at only 35-40 pounds (depending on how his heart is handling fluids) but developmentally can walk and talk and learn new things. Anne 's introHi, my name is Heidi and my daughter is 15 1/2 months old. was a preemie due to a malformed placenta and things have just gotten more interesting sice then. I'm not quite sure what to write to tell you what's going on with . The VNA lady asked me what her primary diagnosis was and I had no clue what to say. She just had bloodwork and a skin biopsy for metabolic stuff and mito, but no diagnosis yet. She has terrible GI problems and has a G-J tube with the g tube to drainage and the j tube for tiny feeds of neocate. She has a broviac and gets TPN 20 hours a day. She has neuro involvement with seizures, dystonia, delays, and autonomic disregulation. She has some kind of renal involvement, possibly RTA. She has lung issues and is on a monitor at night. So, what's the main problem? I guess it's that 's body just doesn't work the way she wants it to. She is a bright, happy, wonderful toddler who wants to get into things and explore like other kids her age. I've gotten over the fact that may not ever be 'typical' but I just want to keep her feeling good. The TPN has worked wonders. She's trying to move around by wiggling and scooting, and I wouldn't dare leave her on the bed now. She used to be so wiped out by any movement that she had to take a nap after laughing and playing peek-a-boo. Now, it's a 40 minute nap maybe twice a day!I'm looking forward to talking to folks who have the same experiences. We've met up with some great families at the hospital, and it was nice to talk to people with similar issues at home. Nice change from the typical playgroup scene where I have to spend too much time explaining everything and not have anything really current to talk about.Thanks!Heidi, 's momPlease contact mito-owner with any problems or questions.

[Guest guest]

Heidi,My 2 sons have a complex 1 and 4 defect in OxPhos. Your daughter sounds very similar to them. They too are TPN dependent 24 hrs a day. Both have g tubes for draining and J tubes which they have stopped tolerating feeds through - though we are able to get a few meds in. Most meds we do IV but there are a few they get that do not come IV. Both have significant renal tubular wasting for all lytes and minerals including bicarbonate - I guess it is kind of a step beyond renal tubular acidosis though that is how they started out. Both have significant autonomic dysfunction, endocrine failure, seizures, coagulation problems and bone marrow failure. Sam has heart failure and lungs issues and like your daughter is on monitors at night and often oxygen these days. if you'd like to read more they have website which is www.caringbridge.org/wi/zachsamif you look at past journal entries I have their history up until a few years ago posted. Also I don't know if you are interested but (who already wrote you) and I are on a wonderful email list for families who have children on TPN plus there area few young adults on the list who are on TPN). Most everyone has the severe GI problems and many have both the G and J tubes, etc and quite a few have mito. if interested go to yahoogroups. com and type in TPN support. I will say that the list tends to be very very busy though - hard to keep up with some days. Even though it is only a small list everyone is pretty chatty. However, it has been a great source of support and so nice to meet others who are cooking up TPN every night and dealing with sepsis, etc. I sure remember the difference in Sam's energy level when he first started TPN. I resisted it for months but finally when he was 18 months old we started it. At the time he lay on the floor most of the day and a 1/2 hr of PT would render him asleep for the rest of the day. Once he got some TPN in him he was a different baby and started growing and developing - it was sunshine in my eyes. he is 6 1/2 now - still incredibly tiny at only 35-40 pounds (depending on how his heart is handling fluids) but developmentally can walk and talk and learn new things. Anne 's introHi, my name is Heidi and my daughter is 15 1/2 months old. was a preemie due to a malformed placenta and things have just gotten more interesting sice then. I'm not quite sure what to write to tell you what's going on with . The VNA lady asked me what her primary diagnosis was and I had no clue what to say. She just had bloodwork and a skin biopsy for metabolic stuff and mito, but no diagnosis yet. She has terrible GI problems and has a G-J tube with the g tube to drainage and the j tube for tiny feeds of neocate. She has a broviac and gets TPN 20 hours a day. She has neuro involvement with seizures, dystonia, delays, and autonomic disregulation. She has some kind of renal involvement, possibly RTA. She has lung issues and is on a monitor at night. So, what's the main problem? I guess it's that 's body just doesn't work the way she wants it to. She is a bright, happy, wonderful toddler who wants to get into things and explore like other kids her age. I've gotten over the fact that may not ever be 'typical' but I just want to keep her feeling good. The TPN has worked wonders. She's trying to move around by wiggling and scooting, and I wouldn't dare leave her on the bed now. She used to be so wiped out by any movement that she had to take a nap after laughing and playing peek-a-boo. Now, it's a 40 minute nap maybe twice a day!I'm looking forward to talking to folks who have the same experiences. We've met up with some great families at the hospital, and it was nice to talk to people with similar issues at home. Nice change from the typical playgroup scene where I have to spend too much time explaining everything and not have anything really current to talk about.Thanks!Heidi, 's momPlease contact mito-owner with any problems or questions.