Re: Results back from Denmark

[Guest guest]

,

I don't have anything to add regarding SCAD, sorry. You interested me in your saying that the hole in his heart miraculously disappeared. What age was your child when this happened - I realize he is only 16 mos. old. Did the docs act surprised that it fixed itself? I ask because my first child had the same thing happen - he had five defects and four healed themselves the first year. They never suspected mito with him, but now with my second son, he has a mito mutation and I do too, so maybe it was a factor. They acted like I must have taken him somewhere else for surgery when the four healed, but I did not.

Thanks!

cara

Results back from Denmark

Hello All,

I have been out of the loop for about 6 weeks. My hard drive crashed, I was out of town, had company, etc.

Cameron has the DNA sequencing for Short Chain acyl-CoA Dehydrogenases deficiency (SCAD). A very rare mito based, fatty oxidation disorder (inborn error of metabolism).

What does this mean? We know it is mito, I am not crazy, nor did I make all this up. I was so happy to hear the results, I think the lady who delivered the news thought I was odd.

I suspected it since all my research lead to it last August. I have fought for this testing and this DX for nearly a year. I contended that if I had a biochemical lab I would run the tests myself, but since I don’t have access to one I needed help proving my theory. I was told it could not possibly be SCAD because it is so rare and the genetic/metabolic Dr. at children’s had never seen a case before. (Hello! That’s why we say it is rare. lol) I insisted on an acyl carnatine profile and skin fiboblasts being sent to Baylor. Reluctantly, after I camped out an extra two hours and waited for him to see me again (after he dismissed me earlier that day. And I went away to the cafeteria, head spinning. My husband via cell phone said, “you know what they need to do go back there and get them to do the tests!) the doctor agreed to do the skin biopsy, because there was biochemical marker of ethylmalonic acid in two different urine organic acid tests. I had convinced him that on the “off chance” that I was right I would like to find out the info. while Cameron was with me, not from the morgue with lots of apologies and gosh you were right. Next, everything still pointed to SCAD or electron transport chain problems. There is a researcher in Denmark who specializes in DNA sequencing found in SCAD. He confirmed that Cam has the variation on both SCAD genes.

So, now they know he has these mutations but say they don’t know that it means anything. Hello, I have a kid on a feeding tube, failure to thrive, whole in heart (miraculously healed), hyper/hypotonia, bony spinal anomalies, GI problems, developmental delays. I think we have some clues here!

Anyway, I don’t sound like this to the docs. I am very nice and well informed and by the grace of God get what we need to have done accomplished. I need to vent sometimes, because as we all know we are not docs (at least most of us) but we know our kids, we do all the research, we network, we need to be heard.

Do any of your kids have SCAD. MCAD and LCAD and VLCAD are more common, believe it or not. I would love to compare notes. Cameron is only 16 mo. old so we don’t know what to expect, no one does. For now the mito cocktail of Co Q10 and riboflavin is working like a charm. I watch him and keep his routine in tact and he does great.

Thanks for listening. I’ll keep it short next time J

Please contact mito-owner with any problems or questions.

[Guest guest]

,

I don't have anything to add regarding SCAD, sorry. You interested me in your saying that the hole in his heart miraculously disappeared. What age was your child when this happened - I realize he is only 16 mos. old. Did the docs act surprised that it fixed itself? I ask because my first child had the same thing happen - he had five defects and four healed themselves the first year. They never suspected mito with him, but now with my second son, he has a mito mutation and I do too, so maybe it was a factor. They acted like I must have taken him somewhere else for surgery when the four healed, but I did not.

Thanks!

cara

Results back from Denmark

Hello All,

I have been out of the loop for about 6 weeks. My hard drive crashed, I was out of town, had company, etc.

Cameron has the DNA sequencing for Short Chain acyl-CoA Dehydrogenases deficiency (SCAD). A very rare mito based, fatty oxidation disorder (inborn error of metabolism).

What does this mean? We know it is mito, I am not crazy, nor did I make all this up. I was so happy to hear the results, I think the lady who delivered the news thought I was odd.

I suspected it since all my research lead to it last August. I have fought for this testing and this DX for nearly a year. I contended that if I had a biochemical lab I would run the tests myself, but since I don’t have access to one I needed help proving my theory. I was told it could not possibly be SCAD because it is so rare and the genetic/metabolic Dr. at children’s had never seen a case before. (Hello! That’s why we say it is rare. lol) I insisted on an acyl carnatine profile and skin fiboblasts being sent to Baylor. Reluctantly, after I camped out an extra two hours and waited for him to see me again (after he dismissed me earlier that day. And I went away to the cafeteria, head spinning. My husband via cell phone said, “you know what they need to do go back there and get them to do the tests!) the doctor agreed to do the skin biopsy, because there was biochemical marker of ethylmalonic acid in two different urine organic acid tests. I had convinced him that on the “off chance” that I was right I would like to find out the info. while Cameron was with me, not from the morgue with lots of apologies and gosh you were right. Next, everything still pointed to SCAD or electron transport chain problems. There is a researcher in Denmark who specializes in DNA sequencing found in SCAD. He confirmed that Cam has the variation on both SCAD genes.

So, now they know he has these mutations but say they don’t know that it means anything. Hello, I have a kid on a feeding tube, failure to thrive, whole in heart (miraculously healed), hyper/hypotonia, bony spinal anomalies, GI problems, developmental delays. I think we have some clues here!

Anyway, I don’t sound like this to the docs. I am very nice and well informed and by the grace of God get what we need to have done accomplished. I need to vent sometimes, because as we all know we are not docs (at least most of us) but we know our kids, we do all the research, we network, we need to be heard.

Do any of your kids have SCAD. MCAD and LCAD and VLCAD are more common, believe it or not. I would love to compare notes. Cameron is only 16 mo. old so we don’t know what to expect, no one does. For now the mito cocktail of Co Q10 and riboflavin is working like a charm. I watch him and keep his routine in tact and he does great.

Thanks for listening. I’ll keep it short next time J

Please contact mito-owner with any problems or questions.

[Guest guest]

Cara,

Cameron was about eight weeks old. We were at Children’s in Seattle. He was to start his

first long day of seeing every specialist imaginable and we started in

Cardiology. The Chief of staff and

an intern examined Cameron because he had an abnormal murmur. The Doctor looked at his resident and

looked at me and point blank said, “your son has a hole in his heart, we

need to do an echocardiogram to determine the size and course of action we need

to take.” I calmly looked

over at my sister who was with me and we immediately started praying. The doc said we would have to schedule

the echo for another time because it would take so long he could never stay

still that long, so they would have to put Cameron under. As we prayed and I listened to him I

asked if we could just try the echo as I could hold Cam and he would sleep

through it. (He was so lethargic I

had faith that this would not be a problem). The Doc agreed and to make a long story

short, could not find the hole after an hour of searching and calling in other

docs and quizzing the guy performing the echo. I truly believe this was an

absolute miracle. The Dr. did not

say there might be a hole, or could be a hole, he had no doubt there was a hole

but questioned only the size. That is my hole in the heart story.

Cameron’s murmur is now gone and

everything seems to be OK with his heart.

Re: Results

back from Denmark

,

I don't have anything to add

regarding SCAD, sorry. You interested me in your saying that the hole in

his heart miraculously disappeared. What age was your child when this

happened - I realize he is only 16 mos. old. Did the docs act surprised

that it fixed itself? I ask because my first child had the same

thing happen - he had five defects and four healed themselves the first

year. They never suspected mito with him, but now with my second

son, he has a mito mutation and I do too, so maybe it

was a factor. They acted like I must have taken him somewhere else for

surgery when the four healed, but I did not.

Thanks!

cara

Results

back from Denmark

Hello All,

I have been out of the loop for

about 6 weeks. My hard drive

crashed, I was out of town, had company, etc.

Cameron has the DNA sequencing for

Short Chain acyl-CoA Dehydrogenases

deficiency (SCAD). A very rare mito based,

fatty oxidation disorder (inborn error of metabolism).

What does this mean? We know it is mito, I am not

crazy, nor did I make all this up.

I was so happy to hear the results, I think the lady who delivered the

news thought I was odd.

I suspected it since all my research

lead to it last August. I have

fought for this testing and this DX for nearly a year. I contended that if I

had a biochemical lab I would run the tests myself, but since I don’t

have access to one I needed help proving my theory. I was told it could not

possibly be SCAD because it is so rare and the genetic/metabolic Dr. at

children’s had never seen a case before. (Hello! That’s why we say it is

rare. lol) I insisted on an acyl

carnatine profile and skin fiboblasts being sent to Baylor. Reluctantly, after I camped out an extra

two hours and waited for him to see me again (after he dismissed me earlier

that day. And I went away to the

cafeteria, head spinning. My husband via cell phone said, “you know what

they need to do go back there and get them to do the tests!) the doctor agreed to do the skin biopsy,

because there was biochemical marker of ethylmalonic acid in two different

urine organic acid tests. I had

convinced him that on the “off chance” that I was right I would

like to find out the info. while Cameron was with me, not from the morgue with

lots of apologies and gosh you were right. Next, everything still pointed to

SCAD or electron transport chain problems. There is a researcher in Denmark who

specializes in DNA sequencing found in SCAD. He confirmed that Cam has the

variation on both SCAD genes.

So, now they know he has these

mutations but say they don’t know that it means anything. Hello, I have a kid on a feeding tube,

failure to thrive, whole in heart (miraculously healed), hyper/hypotonia, bony

spinal anomalies, GI problems, developmental delays. I think we have some clues here!

Anyway, I don’t sound like

this to the docs. I am very nice

and well informed and by the grace of God get what we need to have done

accomplished. I need to vent

sometimes, because as we all know we are not docs (at least most of us) but we

know our kids, we do all the research, we network, we need to be heard.

Do any of your kids have SCAD. MCAD and LCAD and VLCAD are more common,

believe it or not. I would love to

compare notes. Cameron is only 16 mo.

old so we don’t know what to expect, no one does. For now the mito cocktail of

Co Q10 and riboflavin is working like a charm. I watch him and keep his routine in tact

and he does great.

Thanks for listening. I’ll

keep it short next time J

Please

contact mito-owner with any problems or questions.

Your use of

Yahoo! Groups is subject to the Yahoo!

Terms of Service.

Please contact

mito-owner with any problems or questions.

Your use of

Yahoo! Groups is subject to the Yahoo!

Terms of Service.

[Guest guest]

Cara,

Cameron was about eight weeks old. We were at Children’s in Seattle. He was to start his

first long day of seeing every specialist imaginable and we started in

Cardiology. The Chief of staff and

an intern examined Cameron because he had an abnormal murmur. The Doctor looked at his resident and

looked at me and point blank said, “your son has a hole in his heart, we

need to do an echocardiogram to determine the size and course of action we need

to take.” I calmly looked

over at my sister who was with me and we immediately started praying. The doc said we would have to schedule

the echo for another time because it would take so long he could never stay

still that long, so they would have to put Cameron under. As we prayed and I listened to him I

asked if we could just try the echo as I could hold Cam and he would sleep

through it. (He was so lethargic I

had faith that this would not be a problem). The Doc agreed and to make a long story

short, could not find the hole after an hour of searching and calling in other

docs and quizzing the guy performing the echo. I truly believe this was an

absolute miracle. The Dr. did not

say there might be a hole, or could be a hole, he had no doubt there was a hole

but questioned only the size. That is my hole in the heart story.

Cameron’s murmur is now gone and

everything seems to be OK with his heart.

Re: Results

back from Denmark

,

I don't have anything to add

regarding SCAD, sorry. You interested me in your saying that the hole in

his heart miraculously disappeared. What age was your child when this

happened - I realize he is only 16 mos. old. Did the docs act surprised

that it fixed itself? I ask because my first child had the same

thing happen - he had five defects and four healed themselves the first

year. They never suspected mito with him, but now with my second

son, he has a mito mutation and I do too, so maybe it

was a factor. They acted like I must have taken him somewhere else for

surgery when the four healed, but I did not.

Thanks!

cara

Results

back from Denmark

Hello All,

I have been out of the loop for

about 6 weeks. My hard drive

crashed, I was out of town, had company, etc.

Cameron has the DNA sequencing for

Short Chain acyl-CoA Dehydrogenases

deficiency (SCAD). A very rare mito based,

fatty oxidation disorder (inborn error of metabolism).

What does this mean? We know it is mito, I am not

crazy, nor did I make all this up.

I was so happy to hear the results, I think the lady who delivered the

news thought I was odd.

I suspected it since all my research

lead to it last August. I have

fought for this testing and this DX for nearly a year. I contended that if I

had a biochemical lab I would run the tests myself, but since I don’t

have access to one I needed help proving my theory. I was told it could not

possibly be SCAD because it is so rare and the genetic/metabolic Dr. at

children’s had never seen a case before. (Hello! That’s why we say it is

rare. lol) I insisted on an acyl

carnatine profile and skin fiboblasts being sent to Baylor. Reluctantly, after I camped out an extra

two hours and waited for him to see me again (after he dismissed me earlier

that day. And I went away to the

cafeteria, head spinning. My husband via cell phone said, “you know what

they need to do go back there and get them to do the tests!) the doctor agreed to do the skin biopsy,

because there was biochemical marker of ethylmalonic acid in two different

urine organic acid tests. I had

convinced him that on the “off chance” that I was right I would

like to find out the info. while Cameron was with me, not from the morgue with

lots of apologies and gosh you were right. Next, everything still pointed to

SCAD or electron transport chain problems. There is a researcher in Denmark who

specializes in DNA sequencing found in SCAD. He confirmed that Cam has the

variation on both SCAD genes.

So, now they know he has these

mutations but say they don’t know that it means anything. Hello, I have a kid on a feeding tube,

failure to thrive, whole in heart (miraculously healed), hyper/hypotonia, bony

spinal anomalies, GI problems, developmental delays. I think we have some clues here!

Anyway, I don’t sound like

this to the docs. I am very nice

and well informed and by the grace of God get what we need to have done

accomplished. I need to vent

sometimes, because as we all know we are not docs (at least most of us) but we

know our kids, we do all the research, we network, we need to be heard.

Do any of your kids have SCAD. MCAD and LCAD and VLCAD are more common,

believe it or not. I would love to

compare notes. Cameron is only 16 mo.

old so we don’t know what to expect, no one does. For now the mito cocktail of

Co Q10 and riboflavin is working like a charm. I watch him and keep his routine in tact

and he does great.

Thanks for listening. I’ll

keep it short next time J

Please

contact mito-owner with any problems or questions.

Your use of

Yahoo! Groups is subject to the Yahoo!

Terms of Service.

Please contact

mito-owner with any problems or questions.

Your use of

Yahoo! Groups is subject to the Yahoo!

Terms of Service.

[Guest guest]

When my son Colby was born they told he would have to have surgery on his

heart at six months. They said he had atrial septic defect. I don't think

that is the right terminology. Anyway, by six months his also miraculously

disappeared.

Prayer works

mom to Colby 12, COX IV, LCHAD, ADHD, Chad 14 healthy, Caleb 9 also

healthy

[Guest guest]

CONGRATUALTIONS!!!!!

I am so happy that you finally have a diagnosis!! You are not

strange, you are not odd, you are a mother who wanted things done and

got them done!!! If you want more information about SCAD you can go

to www.fodsupport.org . This is the Fatty Acid Oxidation Defect

information site. We went there first because Isa was originally

diagnosed with LCHAD, which we now know is wrong.

Keep up the good work and I am anxious to hear how your daughter is

doing!!!

Sharon mom to Isabelle and Rebekah

> Hello All,

> I have been out of the loop for about 6 weeks. My hard drive

crashed, I

> was out of town, had company, etc.

>

> Cameron has the DNA sequencing for Short Chain acyl-CoA

Dehydrogenases

> deficiency (SCAD). A very rare mito based, fatty oxidation disorder

> (inborn error of metabolism).

>

> What does this mean? We know it is mito, I am not crazy, nor did I

> make all this up. I was so happy to hear the results, I think the

lady

> who delivered the news thought I was odd.

> I suspected it since all my research lead to it last August. I

have

> fought for this testing and this DX for nearly a year. I contended

that

> if I had a biochemical lab I would run the tests myself, but since I

> don't have access to one I needed help proving my theory. I was

told it

> could not possibly be SCAD because it is so rare and the

> genetic/metabolic Dr. at children's had never seen a case before.

> (Hello! That's why we say it is rare. lol) I insisted on an acyl

> carnatine profile and skin fiboblasts being sent to Baylor.

> Reluctantly, after I camped out an extra two hours and waited for

him to

> see me again (after he dismissed me earlier that day. And I went

away

> to the cafeteria, head spinning. My husband via cell phone

said, " you

> know what they need to do go back there and get them to do the

> tests!) the doctor agreed to do the skin biopsy, because there was

> biochemical marker of ethylmalonic acid in two different urine

organic

> acid tests. I had convinced him that on the " off chance " that I was

> right I would like to find out the info. while Cameron was with me,

not

> from the morgue with lots of apologies and gosh you were right.

Next,

> everything still pointed to SCAD or electron transport chain

problems.

> There is a researcher in Denmark who specializes in DNA sequencing

found

> in SCAD. He confirmed that Cam has the variation on both SCAD

genes.

> So, now they know he has these mutations but say they don't know

that it

> means anything. Hello, I have a kid on a feeding tube, failure to

> thrive, whole in heart (miraculously healed), hyper/hypotonia, bony

> spinal anomalies, GI problems, developmental delays. I think we

have

> some clues here!

> Anyway, I don't sound like this to the docs. I am very nice and

well

> informed and by the grace of God get what we need to have done

> accomplished. I need to vent sometimes, because as we all know we

are

> not docs (at least most of us) but we know our kids, we do all the

> research, we network, we need to be heard.

> Do any of your kids have SCAD. MCAD and LCAD and VLCAD are more

common,

> believe it or not. I would love to compare notes. Cameron is only

16

> mo. old so we don't know what to expect, no one does. For now the

mito

> cocktail of Co Q10 and riboflavin is working like a charm. I watch

him

> and keep his routine in tact and he does great.

> Thanks for listening. I'll keep it short next time :-)

>

[Guest guest]

dear cara and mary,

we,too, have a "hole in the heart" story! Emmy is 7 now but was diagnosed with 2 holes at 6 months ( a few months before being diagnosed with Leigh's ). At the time ,she was not stong enough for the surgery and in a year or two the smaller hole disappeared as the docs thought it might(it was a vsd)

the other hole ( asd or atrial septal defect ) was still there and by the time she was 4 her cardiologist ( who we love,by the way) felt she was strong enough for the surgery .

I was very nervous as the device being placed to fill the hole was in an experimental stage and also because emmy does not always respond well to anesthesia

the day before the scheduled surgery, we talked with the anesthesiologist and had another echo--yes the hole was still there and medium in size.

the next morning , i taped emmy's rosary beads(from her grandpa) to her i.v. arm and made the cross with holy water on her forehead(this was from her favorite home nurse who actually got it in Lourdes)

i held her as the anesthesia took affect and then watched as she was wheeled into surgery---i went back up to her room and prayed so hard.

a little while later , her cardiologist was standing in the doorway---i immediately asssumed that something had gone wrong. " You won't believe it --- the hole is gone! We are slowly bringing emmy back out from the anesthesia ."

i just stared at her in disbelief and said something like, ' but Dr. jenkins that is a miracle'

thank you for letting me share em's heart miracle.

mary

LarryRIley wrote:

Cara,

Cameron was about eight weeks old. We were at Children’s in Seattle. He was to start his first long day of seeing every specialist imaginable and we started in Cardiology. The Chief of staff and an intern examined Cameron because he had an abnormal murmur. The Doctor looked at his resident and looked at me and point blank said, “your son has a hole in his heart, we need to do an echocardiogram to determine the size and course of action we need to take.” I calmly looked over at my sister who was with me and we immediately started praying. The doc said we would have to schedule the echo for another time because it would take so long he could never stay still that long, so they would have to put Cameron under. As we prayed and I listened to him I asked if we could just try the echo as I could hold Cam and he would sleep through it. (He was so lethargic I had faith that this would not be a problem). The Doc agreed and to make a long story short, could not find the hole after an hour of searching and calling in other docs and quizzing the guy performing the echo. I truly believe this was an absolute miracle. The Dr. did not say there might be a hole, or could be a hole, he had no doubt there was a hole but questioned only the size. That is my hole in the heart story.

Cameron’s murmur is now gone and everything seems to be OK with his heart.

-----Original Message-----From: C. Waller Sent: Monday, May 27, 2002 1:39 PMTo: Mito Subject: Re: Results back from Denmark

,

I don't have anything to add regarding SCAD, sorry. You interested me in your saying that the hole in his heart miraculously disappeared. What age was your child when this happened - I realize he is only 16 mos. old. Did the docs act surprised that it fixed itself? I ask because my first child had the same thing happen - he had five defects and four healed themselves the first year. They never suspected mito with him, but now with my second son, he has a mito mutation and I do too, so maybe it was a factor. They acted like I must have taken him somewhere else for surgery when the four healed, but I did not.

Thanks!

cara

Results back from Denmark

Hello All,

I have been out of the loop for about 6 weeks. My hard drive crashed, I was out of town, had company, etc.

Cameron has the DNA sequencing for Short Chain acyl-CoA Dehydrogenases deficiency (SCAD). A very rare mito based, fatty oxidation disorder (inborn error of metabolism).

What does this mean? We know it is mito, I am not crazy, nor did I make all this up. I was so happy to hear the results, I think the lady who delivered the news thought I was odd.

I suspected it since all my research lead to it last August. I have fought for this testing and this DX for nearly a year. I contended that if I had a biochemical lab I would run the tests myself, but since I don’t have access to one I needed help proving my theory. I was told it could not possibly be SCAD because it is so rare and the genetic/metabolic Dr. at children’s had never seen a case before. (Hello! That’s why we say it is rare. lol) I insisted on an acyl carnatine profile and skin fiboblasts being sent to Baylor. Reluctantly, after I camped out an extra two hours and waited for him to see me again (after he dismissed me earlier that day. And I went away to the cafeteria, head spinning. My husband via cell phone said, “you know what they need to do go back there and get them to do the tests!) the doctor agreed to do the skin biopsy, because there was biochemical marker of ethylmalonic acid in two different urine organic acid tests. I had convinced him that on the “off chance” that I was right I would like to find out the info. while Cameron was with me, not from the morgue with lots of apologies and gosh you were right. Next, everything still pointed to SCAD or electron transport chain problems. There is a researcher in Denmark who specializes in DNA sequencing found in SCAD. He confirmed that Cam has the variation on both SCAD genes.

So, now they know he has these mutations but say they don’t know that it means anything. Hello, I have a kid on a feeding tube, failure to thrive, whole in heart (miraculously healed), hyper/hypotonia, bony spinal anomalies, GI problems, developmental delays. I think we have some clues here!

Anyway, I don’t sound like this to the docs. I am very nice and well informed and by the grace of God get what we need to have done accomplished. I need to vent sometimes, because as we all know we are not docs (at least most of us) but we know our kids, we do all the research, we network, we need to be heard.

Do any of your kids have SCAD. MCAD and LCAD and VLCAD are more common, believe it or not. I would love to compare notes. Cameron is only 16 mo. old so we don’t know what to expect, no one does. For now the mito cocktail of Co Q10 and riboflavin is working like a charm. I watch him and keep his routine in tact and he does great.

Thanks for listening. I’ll keep it short next time J

Please contact mito-owner with any problems or questions.

[Guest guest]

dear cara and mary,

we,too, have a "hole in the heart" story! Emmy is 7 now but was diagnosed with 2 holes at 6 months ( a few months before being diagnosed with Leigh's ). At the time ,she was not stong enough for the surgery and in a year or two the smaller hole disappeared as the docs thought it might(it was a vsd)

the other hole ( asd or atrial septal defect ) was still there and by the time she was 4 her cardiologist ( who we love,by the way) felt she was strong enough for the surgery .

I was very nervous as the device being placed to fill the hole was in an experimental stage and also because emmy does not always respond well to anesthesia

the day before the scheduled surgery, we talked with the anesthesiologist and had another echo--yes the hole was still there and medium in size.

the next morning , i taped emmy's rosary beads(from her grandpa) to her i.v. arm and made the cross with holy water on her forehead(this was from her favorite home nurse who actually got it in Lourdes)

i held her as the anesthesia took affect and then watched as she was wheeled into surgery---i went back up to her room and prayed so hard.

a little while later , her cardiologist was standing in the doorway---i immediately asssumed that something had gone wrong. " You won't believe it --- the hole is gone! We are slowly bringing emmy back out from the anesthesia ."

i just stared at her in disbelief and said something like, ' but Dr. jenkins that is a miracle'

thank you for letting me share em's heart miracle.

mary

LarryRIley wrote:

Cara,

Cameron was about eight weeks old. We were at Children’s in Seattle. He was to start his first long day of seeing every specialist imaginable and we started in Cardiology. The Chief of staff and an intern examined Cameron because he had an abnormal murmur. The Doctor looked at his resident and looked at me and point blank said, “your son has a hole in his heart, we need to do an echocardiogram to determine the size and course of action we need to take.” I calmly looked over at my sister who was with me and we immediately started praying. The doc said we would have to schedule the echo for another time because it would take so long he could never stay still that long, so they would have to put Cameron under. As we prayed and I listened to him I asked if we could just try the echo as I could hold Cam and he would sleep through it. (He was so lethargic I had faith that this would not be a problem). The Doc agreed and to make a long story short, could not find the hole after an hour of searching and calling in other docs and quizzing the guy performing the echo. I truly believe this was an absolute miracle. The Dr. did not say there might be a hole, or could be a hole, he had no doubt there was a hole but questioned only the size. That is my hole in the heart story.

Cameron’s murmur is now gone and everything seems to be OK with his heart.

-----Original Message-----From: C. Waller Sent: Monday, May 27, 2002 1:39 PMTo: Mito Subject: Re: Results back from Denmark

,

I don't have anything to add regarding SCAD, sorry. You interested me in your saying that the hole in his heart miraculously disappeared. What age was your child when this happened - I realize he is only 16 mos. old. Did the docs act surprised that it fixed itself? I ask because my first child had the same thing happen - he had five defects and four healed themselves the first year. They never suspected mito with him, but now with my second son, he has a mito mutation and I do too, so maybe it was a factor. They acted like I must have taken him somewhere else for surgery when the four healed, but I did not.

Thanks!

cara

Results back from Denmark

Hello All,

I have been out of the loop for about 6 weeks. My hard drive crashed, I was out of town, had company, etc.

Cameron has the DNA sequencing for Short Chain acyl-CoA Dehydrogenases deficiency (SCAD). A very rare mito based, fatty oxidation disorder (inborn error of metabolism).

What does this mean? We know it is mito, I am not crazy, nor did I make all this up. I was so happy to hear the results, I think the lady who delivered the news thought I was odd.

I suspected it since all my research lead to it last August. I have fought for this testing and this DX for nearly a year. I contended that if I had a biochemical lab I would run the tests myself, but since I don’t have access to one I needed help proving my theory. I was told it could not possibly be SCAD because it is so rare and the genetic/metabolic Dr. at children’s had never seen a case before. (Hello! That’s why we say it is rare. lol) I insisted on an acyl carnatine profile and skin fiboblasts being sent to Baylor. Reluctantly, after I camped out an extra two hours and waited for him to see me again (after he dismissed me earlier that day. And I went away to the cafeteria, head spinning. My husband via cell phone said, “you know what they need to do go back there and get them to do the tests!) the doctor agreed to do the skin biopsy, because there was biochemical marker of ethylmalonic acid in two different urine organic acid tests. I had convinced him that on the “off chance” that I was right I would like to find out the info. while Cameron was with me, not from the morgue with lots of apologies and gosh you were right. Next, everything still pointed to SCAD or electron transport chain problems. There is a researcher in Denmark who specializes in DNA sequencing found in SCAD. He confirmed that Cam has the variation on both SCAD genes.

So, now they know he has these mutations but say they don’t know that it means anything. Hello, I have a kid on a feeding tube, failure to thrive, whole in heart (miraculously healed), hyper/hypotonia, bony spinal anomalies, GI problems, developmental delays. I think we have some clues here!

Anyway, I don’t sound like this to the docs. I am very nice and well informed and by the grace of God get what we need to have done accomplished. I need to vent sometimes, because as we all know we are not docs (at least most of us) but we know our kids, we do all the research, we network, we need to be heard.

Do any of your kids have SCAD. MCAD and LCAD and VLCAD are more common, believe it or not. I would love to compare notes. Cameron is only 16 mo. old so we don’t know what to expect, no one does. For now the mito cocktail of Co Q10 and riboflavin is working like a charm. I watch him and keep his routine in tact and he does great.

Thanks for listening. I’ll keep it short next time J

Please contact mito-owner with any problems or questions.

[Guest guest]

dear cara and mary,

we,too, have a "hole in the heart" story! Emmy is 7 now but was diagnosed with 2 holes at 6 months ( a few months before being diagnosed with Leigh's ). At the time ,she was not stong enough for the surgery and in a year or two the smaller hole disappeared as the docs thought it might(it was a vsd)

the other hole ( asd or atrial septal defect ) was still there and by the time she was 4 her cardiologist ( who we love,by the way) felt she was strong enough for the surgery .

I was very nervous as the device being placed to fill the hole was in an experimental stage and also because emmy does not always respond well to anesthesia

the day before the scheduled surgery, we talked with the anesthesiologist and had another echo--yes the hole was still there and medium in size.

the next morning , i taped emmy's rosary beads(from her grandpa) to her i.v. arm and made the cross with holy water on her forehead(this was from her favorite home nurse who actually got it in Lourdes)

i held her as the anesthesia took affect and then watched as she was wheeled into surgery---i went back up to her room and prayed so hard.

a little while later , her cardiologist was standing in the doorway---i immediately asssumed that something had gone wrong. " You won't believe it --- the hole is gone! We are slowly bringing emmy back out from the anesthesia ."

i just stared at her in disbelief and said something like, ' but Dr. jenkins that is a miracle'

thank you for letting me share em's heart miracle.

mary

LarryRIley wrote:

Cara,

Cameron was about eight weeks old. We were at Children’s in Seattle. He was to start his first long day of seeing every specialist imaginable and we started in Cardiology. The Chief of staff and an intern examined Cameron because he had an abnormal murmur. The Doctor looked at his resident and looked at me and point blank said, “your son has a hole in his heart, we need to do an echocardiogram to determine the size and course of action we need to take.” I calmly looked over at my sister who was with me and we immediately started praying. The doc said we would have to schedule the echo for another time because it would take so long he could never stay still that long, so they would have to put Cameron under. As we prayed and I listened to him I asked if we could just try the echo as I could hold Cam and he would sleep through it. (He was so lethargic I had faith that this would not be a problem). The Doc agreed and to make a long story short, could not find the hole after an hour of searching and calling in other docs and quizzing the guy performing the echo. I truly believe this was an absolute miracle. The Dr. did not say there might be a hole, or could be a hole, he had no doubt there was a hole but questioned only the size. That is my hole in the heart story.

Cameron’s murmur is now gone and everything seems to be OK with his heart.

-----Original Message-----From: C. Waller Sent: Monday, May 27, 2002 1:39 PMTo: Mito Subject: Re: Results back from Denmark

,

I don't have anything to add regarding SCAD, sorry. You interested me in your saying that the hole in his heart miraculously disappeared. What age was your child when this happened - I realize he is only 16 mos. old. Did the docs act surprised that it fixed itself? I ask because my first child had the same thing happen - he had five defects and four healed themselves the first year. They never suspected mito with him, but now with my second son, he has a mito mutation and I do too, so maybe it was a factor. They acted like I must have taken him somewhere else for surgery when the four healed, but I did not.

Thanks!

cara

Results back from Denmark

Hello All,

I have been out of the loop for about 6 weeks. My hard drive crashed, I was out of town, had company, etc.

Cameron has the DNA sequencing for Short Chain acyl-CoA Dehydrogenases deficiency (SCAD). A very rare mito based, fatty oxidation disorder (inborn error of metabolism).

What does this mean? We know it is mito, I am not crazy, nor did I make all this up. I was so happy to hear the results, I think the lady who delivered the news thought I was odd.

I suspected it since all my research lead to it last August. I have fought for this testing and this DX for nearly a year. I contended that if I had a biochemical lab I would run the tests myself, but since I don’t have access to one I needed help proving my theory. I was told it could not possibly be SCAD because it is so rare and the genetic/metabolic Dr. at children’s had never seen a case before. (Hello! That’s why we say it is rare. lol) I insisted on an acyl carnatine profile and skin fiboblasts being sent to Baylor. Reluctantly, after I camped out an extra two hours and waited for him to see me again (after he dismissed me earlier that day. And I went away to the cafeteria, head spinning. My husband via cell phone said, “you know what they need to do go back there and get them to do the tests!) the doctor agreed to do the skin biopsy, because there was biochemical marker of ethylmalonic acid in two different urine organic acid tests. I had convinced him that on the “off chance” that I was right I would like to find out the info. while Cameron was with me, not from the morgue with lots of apologies and gosh you were right. Next, everything still pointed to SCAD or electron transport chain problems. There is a researcher in Denmark who specializes in DNA sequencing found in SCAD. He confirmed that Cam has the variation on both SCAD genes.

So, now they know he has these mutations but say they don’t know that it means anything. Hello, I have a kid on a feeding tube, failure to thrive, whole in heart (miraculously healed), hyper/hypotonia, bony spinal anomalies, GI problems, developmental delays. I think we have some clues here!

Anyway, I don’t sound like this to the docs. I am very nice and well informed and by the grace of God get what we need to have done accomplished. I need to vent sometimes, because as we all know we are not docs (at least most of us) but we know our kids, we do all the research, we network, we need to be heard.

Do any of your kids have SCAD. MCAD and LCAD and VLCAD are more common, believe it or not. I would love to compare notes. Cameron is only 16 mo. old so we don’t know what to expect, no one does. For now the mito cocktail of Co Q10 and riboflavin is working like a charm. I watch him and keep his routine in tact and he does great.

Thanks for listening. I’ll keep it short next time J

Please contact mito-owner with any problems or questions.

[Guest guest]

It seems that the other children whose holes, etc. healed on their own are doing better since. For my son, he would have been better off if they had not. He was born with an ASD, VSD, almost no left ventricle, small aorta and no mitral valve. So his blood was taking its own unique route through the heart and ending up where it needed to go, but mixed - red and blue or oxygenated and not. At one year, all were resolved except the large VSD. This actually put more pressure on his lungs sacs from all the extra blood. His lungs were 'scarred' 9.9 on scale of 1-10, and would not grow as he did with age. This discrepancy forced his heart to work harder and it grew to over half his chest size, eventually after several months of misery he went into congestive heart failure final stages and died four days later at the age of 3yr.4 mos.. If the other four defects had not fixed themselves, perhaps he could have had surgery when he got older.

I'm happy if it is that the healing helped the other children, it just wasn't the case with us.

You would think with this occurring with my firstborn I could get a doc to seriously look into my other sons heart. He has complained of pain a few times, has had tachycardia also. I don't think his is structural, but suspect an epinephrine/autonomic reason.

cara

Results back from Denmark

Hello All,

I have been out of the loop for about 6 weeks. My hard drive crashed, I was out of town, had company, etc.

Cameron has the DNA sequencing for Short Chain acyl-CoA Dehydrogenases deficiency (SCAD). A very rare mito based, fatty oxidation disorder (inborn error of metabolism).

What does this mean? We know it is mito, I am not crazy, nor did I make all this up. I was so happy to hear the results, I think the lady who delivered the news thought I was odd.

I suspected it since all my research lead to it last August. I have fought for this testing and this DX for nearly a year. I contended that if I had a biochemical lab I would run the tests myself, but since I don’t have access to one I needed help proving my theory. I was told it could not possibly be SCAD because it is so rare and the genetic/metabolic Dr. at children’s had never seen a case before. (Hello! That’s why we say it is rare. lol) I insisted on an acyl carnatine profile and skin fiboblasts being sent to Baylor. Reluctantly, after I camped out an extra two hours and waited for him to see me again (after he dismissed me earlier that day. And I went away to the cafeteria, head spinning. My husband via cell phone said, “you know what they need to do go back there and get them to do the tests!) the doctor agreed to do the skin biopsy, because there was biochemical marker of ethylmalonic acid in two different urine organic acid tests. I had convinced him that on the “off chance” that I was right I would like to find out the info. while Cameron was with me, not from the morgue with lots of apologies and gosh you were right. Next, everything still pointed to SCAD or electron transport chain problems. There is a researcher in Denmark who specializes in DNA sequencing found in SCAD. He confirmed that Cam has the variation on both SCAD genes.

So, now they know he has these mutations but say they don’t know that it means anything. Hello, I have a kid on a feeding tube, failure to thrive, whole in heart (miraculously healed), hyper/hypotonia, bony spinal anomalies, GI problems, developmental delays. I think we have some clues here!

Anyway, I don’t sound like this to the docs. I am very nice and well informed and by the grace of God get what we need to have done accomplished. I need to vent sometimes, because as we all know we are not docs (at least most of us) but we know our kids, we do all the research, we network, we need to be heard.

Do any of your kids have SCAD. MCAD and LCAD and VLCAD are more common, believe it or not. I would love to compare notes. Cameron is only 16 mo. old so we don’t know what to expect, no one does. For now the mito cocktail of Co Q10 and riboflavin is working like a charm. I watch him and keep his routine in tact and he does great.

Thanks for listening. I’ll keep it short next time J

Please contact mito-owner with any problems or questions.