We are new...

[Guest guest]

Hi all, I am and I have four sons, (11), (9),

(8), and Zachary(6). was hospitalized in May with

onset of diabetes with severe complications including pancretitis,and

pnuemonia. He wound up in a coma and we almost lost him. We have

since had an initial concult with Dr. Saneto at Children's here is

Seattle and he said suspects electron transport chain complex

dysfunction as well as mitochondrial DNA mutations. 's blood

work came back within normal limits with the exception of A pyruvate

was elevated at 0.21. (What does that mean?)We are now waiting to get

into " clinic " so we can schedule a muscle biopsy.(why do we have to

go to clinic first? Should I be worried about them " putting him

under " ?)When was a newborn he cried and threw up a lot. We

eventually put him on soy formula and that seem to help. He was five

before he was diagnosed with bilateral hearing loss (after an entire

year of normal preschool!)and now wears aids in both ears. He has

been in speech therapy since he was four and has also had limited

occupational therapy. He has had an IEP since kindergarten. He tends

to get " migrains " and that concerns me because the school staff seems

to ignore this most of the time. (Although I think I finally set the

district nurse straight!) Mostly I just feel lost! Although we

haven't had a muscle biopsy yet, I feel sure that he has mito. I

wonder how to protect him at school? Will his symptoms get worse?

Will he eventually die? I have read a lot of the posts here and my

heart goes out to each and everyone one of you. I know 's

condition could be a lot worse and I am thankful that it is not.

Still any comments or comraderary would be greatly appreciated!

Thanks for listening!!

[Guest guest]

Dear ... I am so sorry to hear about 's troubles.. We

see Dr. Saneto at Children's also. I must admit I was frustrated

that things go slowly with diagnosis or even to get in to see him. I

would tell you though that it may be to your advantage to get the

appt and do the muscle biopsy later. Dr. Saneto will soon be

doing " needle " muscle biopsies (he's getting the equipment and

getting trained I believe in October). They will require smaller

incisions (by far) and less time in sedation. He expects them to be

as good as the larger muscle biopsies. Feel free to email me if you

have further questions. Cindy, mom to 2 boys with mito, Seth 13 and

Ben 8

> Hi all, I am and I have four sons, (11),

(9),

> (8), and Zachary(6). was hospitalized in May with

> onset of diabetes with severe complications including

pancretitis,and

> pnuemonia. He wound up in a coma and we almost lost him. We have

> since had an initial concult with Dr. Saneto at Children's here is

> Seattle and he said suspects electron transport chain complex

> dysfunction as well as mitochondrial DNA mutations. 's blood

> work came back within normal limits with the exception of A

pyruvate

> was elevated at 0.21. (What does that mean?)We are now waiting to

get

> into " clinic " so we can schedule a muscle biopsy.(why do we have to

> go to clinic first? Should I be worried about them " putting him

> under " ?)When was a newborn he cried and threw up a lot. We

> eventually put him on soy formula and that seem to help. He was

five

> before he was diagnosed with bilateral hearing loss (after an

entire

> year of normal preschool!)and now wears aids in both ears. He has

> been in speech therapy since he was four and has also had limited

> occupational therapy. He has had an IEP since kindergarten. He

tends

> to get " migrains " and that concerns me because the school staff

seems

> to ignore this most of the time. (Although I think I finally set

the

> district nurse straight!) Mostly I just feel lost! Although we

> haven't had a muscle biopsy yet, I feel sure that he has mito. I

> wonder how to protect him at school? Will his symptoms get worse?

> Will he eventually die? I have read a lot of the posts here and my

> heart goes out to each and everyone one of you. I know 's

> condition could be a lot worse and I am thankful that it is not.

> Still any comments or comraderary would be greatly appreciated!

> Thanks for listening!!

[Guest guest]

,

First of all, welcome to the list. While I mostly "lurk" on the list, I do find the list supportive. Your son's symptoms definitely sound mito in nature. In fact, the symptoms you mentioned sound like MELAS. Don't take my word for it, though. There are some links off of the United Mitochondrial Foundation site (www.umdf.org) that are extremely helpful. One of which is about MELAS, and is written by my family's geneticist, Dr. Scaglia, who happens to specialize in MELAS at Baylor College of Medicine in Houston, Texas. Diabetes, bilateral hearing loss, and migraines are all classic symptoms of MELAS, as you will found out in reading this article. There's another link to another article written by Dimauro, which is also very informative. Read these, and I would also take them to your doc, and have him read them. Remember, drs have many patients with many problems, but we just have our loved ones to worry about. Meaning that we have a vested interest in researching as much as possible about our diseases and informing our healthcare professionals. I have found that I am taken more seriously when I come into a drs appt with all the knowledge in my head, as well as, at my fingertips. I have created a medical notebook with info concerning the disease, and sections on each child with all of their medical reports in each section. I have 2 children, and I am also raising my 3 nieces and nephew.

Also, in reference to your concern about the muscle biopsy, getting it done is important to know exactly what you're dealing with, or not dealing with, as the case may be. In MELAS, it has been found that patients can test @ 0%, and still have the disease. The thinking behind this is that the mitochondria can divide so fast in the blood that the level looks low or 0! The level is always lower in the blood than in the affected organ. For example 5 1/2 yrs ago my mother tested at 4% in the blood with the only symptom being bipolar, which, at the time, was not considered a symptom. Two yrs ago, my mother had a stroke-like episode, and 2 moss ago, she was hospitalized with dilated cardiomyopathy (heart 3x's the size it should be and running very inefficiently). If she were to have her heart biposied now, the level would most definitely be higher. Because thousands of mitochondria are located in each cell of the body, and thousands of cells make up each organ in the body, the potential for damage is great. The only problems are that we can't predict which will be affected and to what degree. For example, my mother's problems are severe; however, my problems at this point are only migraines and bipolar. This disease is progressively degenerative, and there is no cure, but there are some supplements that can be taken to treat the symptoms, as they are the only thing that can be treated (ie hearing aids, seizure meds. etc).

I hope this was helpful. If you have any questions, please feel free to email me directly @ carolinepointer@... .

Blessings,

Caroline (mother to Caitlin (7), (5 - suspected MELAS with low muscle mass, low energy); aunt to Angie(8- definite MELAS presenting with bilateral hearing loss, speech impairment, gait impairment, short stature, failure to thrive, low muscle mass, low energy), Shelly (7- definite MELAS), and twins Bobby (5- definite MELAS presenting with suspected ADHD, Becky (5- definite MELAS presenting with short stature, low muscle mass, low energy); sister to (18 at death definite MELAS presented with short stature, low muscle mass, low energy, bilateral hearing loss, opthamaplagia, dilated cardiomyopathy, grand mal seizures, basal ganglia calcification, one stroke-like episode); sister to Terri (41 -definite MELAS presenting with severe Bipolar with psychotic episodes, bilateral hearing loss, low energy); maternal cousin to Cathy (dilated cardiomyopathy); daughter to Carolyn (65 -definite MELAS presenting with bipolar, dilated cardiomyopathy, one stroke-like episode, low energy).

We are new...

Hi all, I am and I have four sons, (11), (9), (8), and Zachary(6). was hospitalized in May with onset of diabetes with severe complications including pancretitis,and pnuemonia. He wound up in a coma and we almost lost him. We have since had an initial concult with Dr. Saneto at Children's here is Seattle and he said suspects electron transport chain complex dysfunction as well as mitochondrial DNA mutations. 's blood work came back within normal limits with the exception of A pyruvate was elevated at 0.21. (What does that mean?)We are now waiting to get into "clinic" so we can schedule a muscle biopsy.(why do we have to go to clinic first? Should I be worried about them "putting him under"?)When was a newborn he cried and threw up a lot. We eventually put him on soy formula and that seem to help. He was five before he was diagnosed with bilateral hearing loss (after an entire year of normal preschool!)and now wears aids in both ears. He has been in speech therapy since he was four and has also had limited occupational therapy. He has had an IEP since kindergarten. He tends to get "migrains" and that concerns me because the school staff seems to ignore this most of the time. (Although I think I finally set the district nurse straight!) Mostly I just feel lost! Although we haven't had a muscle biopsy yet, I feel sure that he has mito. I wonder how to protect him at school? Will his symptoms get worse? Will he eventually die? I have read a lot of the posts here and my heart goes out to each and everyone one of you. I know 's condition could be a lot worse and I am thankful that it is not. Still any comments or comraderary would be greatly appreciated! Thanks for listening!! Please contact mito-owner with any problems or questions.

[Guest guest]

Hi :

I have three children. , 11 1/2, 9, and Leah 6 years old.

Leah is the one suspected of having a mitochondrial disease. But we

are watching as he has some issues we are concerned about as

parents. But we are stressing out that he may have mito. We

just take precautions with him. We are very blessed that our teaching

staff really listen to us as parents. tends to get migrains.

Our ped. neurologist feels that is all they are. We have done blood

work up and cat and MRI scans and nothing is really showing up with

. Anyway we had a note from the neurologist that stated if

started to get a headache he was to let the teachers know and go down

for iboprofen right away. We have done this many times. But you know

since we started on adderall xr his headaches have really

decreased. I guess that is used for ADD (which he has) but also used

for migrains which we didn't know. May be your doctor could do the same

thing. Have a letter stating that has soon as starts to say he

has a headache he goes and gets medicine and lies down. Usually

is back upstairs within 30 minutes. The clinic may be to do a preop

sort of stuff. And yes you should be cautious about going under. There

is a wonderful article in the UMDF web site that discusses the

precautions you should take. All our doctors have really listened and

even downloaded information from that site before doing any procedures

on Leah or . The precautions we take at school for Leah is mostly

regarding heat issues, feeding issues and illness issues. Illness

usually sets Leah back for awhile. Some times alot and sometimes very,

very little. Each child is different with mito in this group and how

they respond to issues. In fact, Leah has gained some pretty neat

skills and is doing more than I ever realized. And there is more going

up in her little brain than most people think. She is nonverbal so we

are working on that with her. Ask more questions and you will learn

lots from this group. Take care.

Nerenhausen

mom to Leah

yeldigm wrote:

>Hi all, I am and I have four sons, (11), (9),

>(8), and Zachary(6). was hospitalized in May with

>onset of diabetes with severe complications including pancretitis,and

>pnuemonia. He wound up in a coma and we almost lost him. We have

>since had an initial concult with Dr. Saneto at Children's here is

>Seattle and he said suspects electron transport chain complex

>dysfunction as well as mitochondrial DNA mutations. 's blood

>work came back within normal limits with the exception of A pyruvate

>was elevated at 0.21. (What does that mean?)We are now waiting to get

>into " clinic " so we can schedule a muscle biopsy.(why do we have to

>go to clinic first? Should I be worried about them " putting him

>under " ?)When was a newborn he cried and threw up a lot. We

>eventually put him on soy formula and that seem to help. He was five

>before he was diagnosed with bilateral hearing loss (after an entire

>year of normal preschool!)and now wears aids in both ears. He has

>been in speech therapy since he was four and has also had limited

>occupational therapy. He has had an IEP since kindergarten. He tends

>to get " migrains " and that concerns me because the school staff seems

>to ignore this most of the time. (Although I think I finally set the

>district nurse straight!) Mostly I just feel lost! Although we

>haven't had a muscle biopsy yet, I feel sure that he has mito. I

>wonder how to protect him at school? Will his symptoms get worse?

>Will he eventually die? I have read a lot of the posts here and my

>heart goes out to each and everyone one of you. I know 's

>condition could be a lot worse and I am thankful that it is not.

>Still any comments or comraderary would be greatly appreciated!

>Thanks for listening!!

>

>

>

>

>

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

>