Re: new member with questions

[Guest guest]

- My husband started with the same symptoms a short time ago. Went the

Prednisone course, got side effects from it. Went to the allergist several

times. It will probably take a combination of antihistamines to control the

hives. He is on Allegra 180 mg in the morning and doxipen 20 mg at night. The

doxepin seems to work best. Good Luck!

[Guest guest]

Welcome!!!

If your child is going to be under anethsesia anyway I would do the biopsy. Anything to simplify and possibly keep her from having to be put under for a second time if you waited till later. This is just my opinion and you as her parents must go with what you feel is best. I will be praying for you as you are trying to come up with the right decision for your child.

Blessings!

Horsley

Mom to (12) Complex 1 & 3

leehorsley@...

new member with questions

Dear Mito group members,I must commend all of you as members of this group. I found this site last week and have been searcing the archives for more information on mito diseases. Everyone seems so informative and kind!I do have a number of questions and would accept and info/advice anyone would care to give. I put together a summary(as succinctly as possible) below. Thank you in advance so much for your time in reading this.I have two healthy boys (8 & 10) and a daughter 2 1/2 yr (Nov '1999 bday). In my daughter's first yr she went from birth weight 8#-8oz to completely falling off the chart ( I was nursing her and did so her whole first year). She was dx Failure to thrive. During this time her Cleveland Clinic PED referred us to a nutritionist and spent time using hi-cal formulas in addition to breast feeding. He then referred us to a Gastro Dr. (sweat test, 72 hr fat test, allergy tests, blood tests, stomach biopsy, and all gastro results were normal. Bicarbonate was low -20 and was put on BiCitra. Lactic Acid was slightly elevated at 2.4) We were referred to Dr. Cohen- (we live in Cleveland and my kids have always had PED appts at CCF satellites. He first saw her when she was 1-1/2. All cognitive, neurological, motor development was normal and no history of otherwise. He ran blood and urine tests along with acylcarnitine-(organic acids showed high excretions of citric acid cycle intermediates, Alanine at 405, total carnitine was ok, urine carnitine elevated at 572. Branch chain C5 acylcarnitine found in urine. Lactic acid elevated at 3.6) He concluded this information was consistent with the disorder of mitochondrial metabolism. She was placed on Carnitor and CoQ10 in addition to Bicitra. A possible muscle biopsy was mentioned when she reached between 30-40 lb.Since then her weight(24#) has brought her back up to touch the bottom of the chart and height is 5-10% on growth curve. Her lactic acid is checked every 6 mo along with blood and urine. Right now organic acids are ok, carnitine is ok, no overt acidosis, and Lactic acid is at 3.2. In June she visited an ENT for routine check. ENT found that her adenoids were almost completely obstructing her breathing and her tonsils were large. He recommends to remove adenoids and do partial tonsillectomy. When consulted, Dr. Cohen suggested doing the muscle biopsy at the same time since she would already be under anesthesia. I think his thinking was since she was already going to be under anesthesia to do it at the same time.To us(my husband and myself other than ENT situation described above) she seems perfectly normal. Her energy level is so high that it seems like it is in oppostion to the condition of a mito disorder. She is small, has tiny limbs, no fat, joints do seem somewhat loose-but that may be because of her size and no fat, and can do a lot of motor activities that really take a lot of strength (sumersaults, handstands, flips on the rings, monkey bars, riding tricycle, etc), speaks well and does everything to keep up with older brothers.My questions are as follows:1. With your experience does the description above seem similar to yours to indicate a possible mitochondrial disorder of some type (or potential prelude to one)?2. With your experience in this area, do children that can have similar metabolic histories to my daughter develop possibly and/or progressively into the multitudes of mito disorders that I have read about?3. We are convinced that our daugher can benefit from the ENT procedure to help her breathing, eating, sleeping. (although I am still wary of any anesthesia) I just feel reluctant to put her through a muscle biopsy at the same time when all her numbers look so normal. I just feel very guilty about pursuing an invasive procedure on a child that appears to me to be so borderline with a 'possible' mito condition.(Maybe this opinion is completely ludicrous and I am flawed in my thinking...please tell me) 4. I have read that fresh muscle biopsies may not always deliver results. And in our case, what would really change what we are doing now for her (i.e. extra vitamins) In your experience, is this the end all of conclusive reports to indicate a possible mitochondrial disorder? Are there other non-invasive tests that maybe we should consider instead?Thank you in advance so much for reading my LONG message and any advice or information that you could provide. Please contact mito-owner with any problems or questions.

[Guest guest]

First, welcome to the group.

I have 10 and 11 y/o sons with suspected mito and a 9 y/o daughter,

questionable mito. My boys are also on Bicitra and Carnitor, since they

present with acidosis/ketosis. This treatment, along with lower fat/protein,

frequent complex carb diet, has helped my 10 y/o return to his normal

activities. But, my 11 y/o has progresive muscle atrophy and is now

considering a muscle biopsy. I relate this to you because he also was very

active. Heck, he even won 3rd in nationals in TaeKwonDo some years back!

Now, he can't do a single pushup. I will always wonder if he had full

diagnosis/intervention earlier, if he wouldn't have deteriorated (muscle and

fatigue wise) so much. So, while I understand your concerns, if mito guru

Dr. Cohen recommended the biopsy, I would take his advice.

Just my 2 cents...

Dena

[Guest guest]

Dear Kathy:

Welcome to the group!

I was newbie last year, and like you I found this group to be informative and supportive!

My youngest son was diagnosed first. Then my oldest son...to look at them, you would think they were absolutely normal. Both sons, especially my oldest, were severely underweight. Both have low muscle tone. My youngest went through a spell at ages 4-6 of ataxia. Both have cyclic vomiting necessitating a trip to the ER when they first vomit. My youngest son had developmental issues early on, but with lots of intervention, he is now age and grade appropriate.

A diagnosis of mito is just a first step. Because it is such a rare disease and only recently being studied in earnest, there is not a lot of information available. You are EXTREMELY fortunate to have locked in with Bruce Cohen, a leader in the field, and I would certainly defer to his suggestions.

Your daughter's lactate is high. Anything over 2.1 is suggestive of mito. Do you know her Alanine/Lysine ratio?

I think you have been given misinformation about the "fresh" biopsy. Fresh biopsy is considered state of the art. My youngest had a frozen biopsy...while it did show some signs of mito, it wasn't as good as a fresh biopsy.

There is no way to know, with few exceptions, how mito will ultimately affect your child. I guess I would say there's no reason to panic. You will see mito kids like mine and you will see mito kids in wheelchairs with feeding tubes. We are all in this together.

In fact, as far as progression...there are a number of parents who are diagnosed as adults with mito. Like the children, there is a whole range of severity of symptoms.

I would definitely get the tonsils and adenoids out. My youngest had that done and it was well worth the worry and effort. If a biopsy is available to you at that time, I would definitely get it done. Especially if Cohen suggests it and will be interpreting it.

I am so happy that your daughter is doing well and that your older children seem fine. Just take one thing at a time and do not worry about the things that are out of your control. Having an accurate diagnosis is important and may help in deciding what therapies to treat her with.

Again, welcome to our group....we are always here with an opinion, suggestion or to be a sounding board when you get frustrated!

Carol

[Guest guest]

Hi,

I wanted to let you know that our daughter also can

have high energy.. even is in gymnastics. Mind you she

is also tube fed 24/7 now but thats because she simply

doesnt drink. She will have crashes though that she

seems to simply use up all of her energy but not on

most days. Her developement had been delayed in some

areas while she was an infant but she has since caught

up and even surpassed most of the kids her own age.

Our main problem is that she tires fast than other

kids even with the tube feeds now. She was like you

daughter below the charts which is the reason she was

finally given the G tube. I think what you need to

remember (as do we) that all kids are different and

have different experiences with mito too. Good luck on

deciding if you should go ahead with the biopsy. We

are still trying to make the same decision.

Kimberley

--- kathymhutch2002 wrote:

> Dear Mito group members,

> I must commend all of you as members of this group.

> I found this

> site last week and have been searcing the archives

> for more

> information on mito diseases. Everyone seems so

> informative and kind!

> I do have a number of questions and would accept and

> info/advice

> anyone would care to give. I put together a

> summary(as succinctly as

> possible) below. Thank you in advance so much for

> your time in

> reading this.

>

> I have two healthy boys (8 & 10) and a daughter 2

> 1/2 yr (Nov '1999

> bday). In my daughter's first yr she went from

> birth weight 8#-8oz

> to completely falling off the chart ( I was nursing

> her and did so

> her whole first year). She was dx Failure to

> thrive. During this

> time her Cleveland Clinic PED referred us to a

> nutritionist and spent

> time using hi-cal formulas in addition to breast

> feeding. He then

> referred us to a Gastro Dr. (sweat test, 72 hr fat

> test, allergy

> tests, blood tests, stomach biopsy, and all gastro

> results were

> normal. Bicarbonate was low -20 and was put on

> BiCitra. Lactic Acid

> was slightly elevated at 2.4)

>

> We were referred to Dr. Cohen- (we live in Cleveland

> and my kids have

> always had PED appts at CCF satellites. He first

> saw her when she

> was 1-1/2. All cognitive, neurological, motor

> development was normal

> and no history of otherwise. He ran blood and urine

> tests along with

> acylcarnitine-(organic acids showed high excretions

> of citric acid

> cycle intermediates, Alanine at 405, total carnitine

> was ok, urine

> carnitine elevated at 572. Branch chain C5

> acylcarnitine found in

> urine. Lactic acid elevated at 3.6) He concluded

> this information

> was consistent with the disorder of mitochondrial

> metabolism. She

> was placed on Carnitor and CoQ10 in addition to

> Bicitra. A possible

> muscle biopsy was mentioned when she reached between

> 30-40 lb.

>

> Since then her weight(24#) has brought her back up

> to touch the

> bottom of the chart and height is 5-10% on growth

> curve. Her lactic

> acid is checked every 6 mo along with blood and

> urine. Right now

> organic acids are ok, carnitine is ok, no overt

> acidosis, and Lactic

> acid is at 3.2.

>

> In June she visited an ENT for routine check. ENT

> found that her

> adenoids were almost completely obstructing her

> breathing and her

> tonsils were large. He recommends to remove

> adenoids and do partial

> tonsillectomy. When consulted, Dr. Cohen suggested

> doing the muscle

> biopsy at the same time since she would already be

> under anesthesia.

> I think his thinking was since she was already going

> to be under

> anesthesia to do it at the same time.

>

> To us(my husband and myself other than ENT situation

> described above)

> she seems perfectly normal. Her energy level is so

> high that it

> seems like it is in oppostion to the condition of a

> mito disorder.

> She is small, has tiny limbs, no fat, joints do seem

> somewhat loose-

> but that may be because of her size and no fat, and

> can do a lot of

> motor activities that really take a lot of strength

> (sumersaults,

> handstands, flips on the rings, monkey bars, riding

> tricycle, etc),

> speaks well and does everything to keep up with

> older brothers.

>

> My questions are as follows:

> 1. With your experience does the description above

> seem similar to

> yours to indicate a possible mitochondrial disorder

> of some type (or

> potential prelude to one)?

>

> 2. With your experience in this area, do children

> that can have

> similar metabolic histories to my daughter develop

> possibly and/or

> progressively into the multitudes of mito disorders

> that I have read

> about?

>

> 3. We are convinced that our daugher can benefit

> from the ENT

> procedure to help her breathing, eating, sleeping.

> (although I am

> still wary of any anesthesia) I just feel reluctant

> to put her

> through a muscle biopsy at the same time when all

> her numbers look so

> normal. I just feel very guilty about pursuing an

> invasive procedure

> on a child that appears to me to be so borderline

> with a 'possible'

> mito condition.(Maybe this opinion is completely

> ludicrous and I am

> flawed in my thinking...please tell me)

>

> 4. I have read that fresh muscle biopsies may not

> always deliver

> results. And in our case, what would really change

> what we are doing

> now for her (i.e. extra vitamins) In your

> experience, is this the

> end all of conclusive reports to indicate a possible

> mitochondrial

> disorder? Are there other non-invasive tests that

> maybe we should

> consider instead?

>

> Thank you in advance so much for reading my LONG

> message and any

> advice or information that you could provide.

>

>

>

__________________________________________________

[Guest guest]

Dear Kathy,

Welcome. I have a son with many similarities as

your daughter. I would say that

even though you may not “treat” your daughter with any different

vitamins or supplements if you get the exact diagnosis, you have a perfect

opportunity to get the biopsy done, have it fresh, and interpreted by the best

all in one operation. That may

sound odd but having that info and not having a second surgery (if all of a

sudden a biopsy is deemed imperative) would be the best in the long run. My son has not had a biopsy, but the

doctor said if he needs another surgery (has a g-tube already) to go with the

fresh biopsy while he is already under. It may give you a peace of mind knowing what

is really going on and you may qualify for future studies and can keep up on

the latest discoveries related to your daughters particular diagnosis.

Good luck, sorry it was such a long

answer.

Riley

Mom to Cameron 18mo unspecified Mito

new member with

questions

Dear Mito group members,

I must commend all of you as members of this

group. I found this

site last week and have been searcing the archives

for more

information on mito diseases. Everyone seems

so informative and kind!

I do have a number of questions and would accept

and info/advice

anyone would care to give. I put together a

summary(as succinctly as

possible) below. Thank you in advance so

much for your time in

reading this.

I have two healthy boys (8 & 10) and a daughter

2 1/2 yr (Nov '1999

bday). In my daughter's first yr she went

from birth weight 8#-8oz

to completely falling off the chart ( I was

nursing her and did so

her whole first year). She was dx Failure to

thrive. During this

time her Cleveland Clinic PED referred us to a

nutritionist and spent

time using hi-cal formulas in addition to breast

feeding. He then

referred us to a Gastro Dr. (sweat test, 72 hr fat

test, allergy

tests, blood tests, stomach biopsy, and all gastro

results were

normal. Bicarbonate was low -20 and was put

on BiCitra. Lactic Acid

was slightly elevated at 2.4)

We were referred to Dr. Cohen- (we live in

Cleveland and my kids have

always had PED appts at CCF satellites. He

first saw her when she

was 1-1/2. All cognitive, neurological,

motor development was normal

and no history of otherwise. He ran blood

and urine tests along with

acylcarnitine-(organic acids showed high

excretions of citric acid

cycle intermediates, Alanine at 405, total

carnitine was ok, urine

carnitine elevated at 572. Branch

chain C5 acylcarnitine found in

urine. Lactic acid elevated at 3.6) He

concluded this information

was consistent with the disorder of mitochondrial

metabolism. She

was placed on Carnitor and CoQ10 in addition to Bicitra.

A possible

muscle biopsy was mentioned when she reached

between 30-40 lb.

Since then her weight(24#) has brought her back up

to touch the

bottom of the chart and height is 5-10% on growth

curve. Her lactic

acid is checked every 6 mo along with blood and

urine. Right now

organic acids are ok, carnitine is ok, no overt

acidosis, and Lactic

acid is at 3.2.

In June she visited an ENT for routine check. ENT

found that her

adenoids were almost completely obstructing her

breathing and her

tonsils were large. He recommends to remove

adenoids and do partial

tonsillectomy. When consulted, Dr. Cohen

suggested doing the muscle

biopsy at the same time since she would already be

under anesthesia.

I think his thinking was since she was already going

to be under

anesthesia to do it at the same time.

To us(my husband and myself other than ENT

situation described above)

she seems perfectly normal. Her energy level

is so high that it

seems like it is in oppostion to the condition of

a mito disorder.

She is small, has tiny limbs, no fat, joints do

seem somewhat loose-

but that may be because of her size and no fat,

and can do a lot of

motor activities that really take a lot of

strength (sumersaults,

handstands, flips on the rings, monkey bars,

riding tricycle, etc),

speaks well and does everything to keep up with

older brothers.

My questions are as follows:

1. With your experience does the description

above seem similar to

yours to indicate a possible mitochondrial

disorder of some type (or

potential prelude to one)?

2. With your experience in this area, do

children that can have

similar metabolic histories to my daughter develop

possibly and/or

progressively into the multitudes of mito

disorders that I have read

about?

3. We are convinced that our daugher can

benefit from the ENT

procedure to help her breathing, eating,

sleeping. (although I am

still wary of any anesthesia) I just feel

reluctant to put her

through a muscle biopsy at the same time when all

her numbers look so

normal. I just feel very guilty about pursuing an

invasive procedure

on a child that appears to me to be so borderline

with a 'possible'

mito condition.(Maybe this opinion is completely

ludicrous and I am

flawed in my thinking...please tell

me)

4. I have read that fresh muscle biopsies

may not always deliver

results. And in our case, what would really

change what we are doing

now for her (i.e. extra vitamins) In your

experience, is this the

end all of conclusive reports to indicate a

possible mitochondrial

disorder? Are there other non-invasive tests

that maybe we should

consider instead?

Thank you in advance so much for reading my LONG

message and any

advice or information that you could provide.

Please contact

mito-owner with any problems or questions.

Your use of

Yahoo! Groups is subject to the Yahoo!

Terms of Service.

[Guest guest]

Dear Kathy,

I have only been on the list for about a month myself, but my daughter could

have been yours when she was little. She started getting sick at age 4 when

we first noticed problems and was diagnosed with Chronic Fatigue Syndrome by

age 6. She has gotten sicker and sicker every year waxing and waning but

never better. We just saw Dr. Cohen in May and July and found out she has a

suspected mitochondrial oxidative metabolism problem. I am not sure what

illness this is called, but basically she is under oxidative stress all the

time. I think that the years of things not working have just compounded and

made her worse. I wish we had known earlier what was going on, but now is

better than later.

I just wonder if your daughter would have gotten sicker if you had not

gotten a diagnosis. The muscle biopsy is a tough decision. We have opted to

not do it, with Cohen's blessing. He said it would be purely science to have

it done. But it could give them more information on what we are dealing

with. It is just a tough call to make.

From what I hear Cohen is one of the best. I feel very comfortable knowing

we are in such great hands and feel he really knows what he is talking

about.

I hope this is helpful.

All the best,

Z

[Guest guest]

I'm sorry I don't have any wise advice but I would consider the biopsy if

she is already under as you may get an answer that many of us are still

hoping for? Just a thought. My thoughts are with you.

Donna x

new member with questions

> Dear Mito group members,

> I must commend all of you as members of this group. I found this

> site last week and have been searcing the archives for more

> information on mito diseases. Everyone seems so informative and kind!

> I do have a number of questions and would accept and info/advice

> anyone would care to give. I put together a summary(as succinctly as

> possible) below. Thank you in advance so much for your time in

> reading this.

>

> I have two healthy boys (8 & 10) and a daughter 2 1/2 yr (Nov '1999

> bday). In my daughter's first yr she went from birth weight 8#-8oz

> to completely falling off the chart ( I was nursing her and did so

> her whole first year). She was dx Failure to thrive. During this

> time her Cleveland Clinic PED referred us to a nutritionist and spent

> time using hi-cal formulas in addition to breast feeding. He then

> referred us to a Gastro Dr. (sweat test, 72 hr fat test, allergy

> tests, blood tests, stomach biopsy, and all gastro results were

> normal. Bicarbonate was low -20 and was put on BiCitra. Lactic Acid

> was slightly elevated at 2.4)

>

> We were referred to Dr. Cohen- (we live in Cleveland and my kids have

> always had PED appts at CCF satellites. He first saw her when she

> was 1-1/2. All cognitive, neurological, motor development was normal

> and no history of otherwise. He ran blood and urine tests along with

> acylcarnitine-(organic acids showed high excretions of citric acid

> cycle intermediates, Alanine at 405, total carnitine was ok, urine

> carnitine elevated at 572. Branch chain C5 acylcarnitine found in

> urine. Lactic acid elevated at 3.6) He concluded this information

> was consistent with the disorder of mitochondrial metabolism. She

> was placed on Carnitor and CoQ10 in addition to Bicitra. A possible

> muscle biopsy was mentioned when she reached between 30-40 lb.

>

> Since then her weight(24#) has brought her back up to touch the

> bottom of the chart and height is 5-10% on growth curve. Her lactic

> acid is checked every 6 mo along with blood and urine. Right now

> organic acids are ok, carnitine is ok, no overt acidosis, and Lactic

> acid is at 3.2.

>

> In June she visited an ENT for routine check. ENT found that her

> adenoids were almost completely obstructing her breathing and her

> tonsils were large. He recommends to remove adenoids and do partial

> tonsillectomy. When consulted, Dr. Cohen suggested doing the muscle

> biopsy at the same time since she would already be under anesthesia.

> I think his thinking was since she was already going to be under

> anesthesia to do it at the same time.

>

> To us(my husband and myself other than ENT situation described above)

> she seems perfectly normal. Her energy level is so high that it

> seems like it is in oppostion to the condition of a mito disorder.

> She is small, has tiny limbs, no fat, joints do seem somewhat loose-

> but that may be because of her size and no fat, and can do a lot of

> motor activities that really take a lot of strength (sumersaults,

> handstands, flips on the rings, monkey bars, riding tricycle, etc),

> speaks well and does everything to keep up with older brothers.

>

> My questions are as follows:

> 1. With your experience does the description above seem similar to

> yours to indicate a possible mitochondrial disorder of some type (or

> potential prelude to one)?

>

> 2. With your experience in this area, do children that can have

> similar metabolic histories to my daughter develop possibly and/or

> progressively into the multitudes of mito disorders that I have read

> about?

>

> 3. We are convinced that our daugher can benefit from the ENT

> procedure to help her breathing, eating, sleeping. (although I am

> still wary of any anesthesia) I just feel reluctant to put her

> through a muscle biopsy at the same time when all her numbers look so

> normal. I just feel very guilty about pursuing an invasive procedure

> on a child that appears to me to be so borderline with a 'possible'

> mito condition.(Maybe this opinion is completely ludicrous and I am

> flawed in my thinking...please tell me)

>

> 4. I have read that fresh muscle biopsies may not always deliver

> results. And in our case, what would really change what we are doing

> now for her (i.e. extra vitamins) In your experience, is this the

> end all of conclusive reports to indicate a possible mitochondrial

> disorder? Are there other non-invasive tests that maybe we should

> consider instead?

>

> Thank you in advance so much for reading my LONG message and any

> advice or information that you could provide.

>

>

>

>

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

>

>