Re: New members - Early Stages of Poss Mito?

[Guest guest]

Dear :

My daughter, Leah, age 3, may be considered a sort of mild form of

mitochondrial myopathy. Her muscle biopsy came back normal. It was only in

her fibroblast that shows an indication of a mito disease. She can nodt sit

up on her own; crawl (though she is showing signs of wanting to do it) walk.

She rolls to get everywhere. She does the army crawl occasionally. She

doesn't have seizures or any other medical issues. (at least at this time.

But we know that can change. So her doctor is feeling hers is sort of mild.

But we are still researching because Leah doesn't have a firm diagnosis yet.

Our next appointment is in October. Good luck.

N. mom to Leah

drkalick@... wrote:

> We are the parents of a " healthy " 8 mo old son & 4 year old daughter.

>

> The short version goes like this...

> Our son was admitted to the hospital at 3 wks of age due to perioral

> cyanosis (dusky coloring around his mouth and nose). His ped. was

> concerned about possible heart/brain problems. We were there for a

> week and he was diag. w/GERD and everthing else checked out normal

> (EEG/Echo/MRI of brain/EKG). The attend ped. ran a metabolic screen

> (not really sure why) and found his lactic acid was " critically "

> elevated. The doctors thought they must have taken it incorrectly

> (not arterially) and retook the blood. It again came back high. We

> were discharged with an apnea/brady monitor and told to follow up

> with a geneticist. We retook his blood and it consitently came back

> high as well as one organic acid in his urine was slightly elevated.

>

> We were referred to Dr. Shoffner in Atlanta. We met with him and he

> performed muscle biopsy last month, so will not have the results for

> 4-8 more weeks.

>

> Has anyone been in a situation that the child has not had clinical

> symptoms and was still diagnosed with a mito disorder?

>

> Dr. Shoffner explained that symptoms range from mild to severe...what

> is concidered mild?

>

> Any help would be appreciated. Thank you.

>

> & Glenn (Jordan 8 mos, 4)

>

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

>

>

[Guest guest]

& Glenn,

We are going through a somewhat similar situation. To look at our

son, you wouldn't think anything is wrong--- except that he is 23

months and doesn't walk or stand without support. He has very weak

muscles in his legs and trunk, he is also very small for his age-- 19

lbs. (His cognitive and fine motor skills are appropriate.)

To complicate the matter he was born at 26 weeks for an unkown

reason. (placenta stopped working) Although most doctors credit his

slow development to prematurity-- a genetics doc at the mayo clinic

thinks he has mito. His blood tests have come back slightly off. We

are waiting now for the results of a muscle biopsy.

You said " Dr. Shoffner explained that symptoms range from mild to

severe...what is concidered mild? " .

That is confusing us too. How can this disorder have such a wide

range? I read these posts about children who are in bad shape, some

even die.......if Graham does have mito....is that what I should

expect?

I'm not much help, but wanted to let you know that you're not alone.

Dawn

mom to Graham-- former 26 week preemie, gtube, glasses, dev delays,

etc, etc.....

> We are the parents of a " healthy " 8 mo old son & 4 year old

daughter.

>

> The short version goes like this...

> Our son was admitted to the hospital at 3 wks of age due to

perioral

> cyanosis (dusky coloring around his mouth and nose). His ped. was

> concerned about possible heart/brain problems. We were there for a

> week and he was diag. w/GERD and everthing else checked out normal

> (EEG/Echo/MRI of brain/EKG). The attend ped. ran a metabolic screen

> (not really sure why) and found his lactic acid was " critically "

> elevated. The doctors thought they must have taken it incorrectly

> (not arterially) and retook the blood. It again came back high.

We

> were discharged with an apnea/brady monitor and told to follow up

> with a geneticist. We retook his blood and it consitently came

back

> high as well as one organic acid in his urine was slightly elevated.

>

> We were referred to Dr. Shoffner in Atlanta. We met with him and

he

> performed muscle biopsy last month, so will not have the results

for

> 4-8 more weeks.

>

> Has anyone been in a situation that the child has not had clinical

> symptoms and was still diagnosed with a mito disorder?

>

> Dr. Shoffner explained that symptoms range from mild to

severe...what

> is concidered mild?

>

> Any help would be appreciated. Thank you.

>

> & Glenn (Jordan 8 mos, 4)

[Guest guest]

I'm not sure if I am posting correctly so I am sorry if I am not.

If you do not mind me asking, when was your son's mus. biopsy done.

Jordan's was at the end of July and this has been such a long three

weeks waiting.

Also, again I'm sorry if I am being to personal, but has your son

always had weakness in his legs and trunk? Jordan seems so strong,

especially because my 4 year old daughter was born prematurely (331/2

weeks) and she was the one I always thought would be having continual

problems (although she was recently diagnosed with a hearing loss).

Thank you for replying, it is comforting to know there are people in

similar situations.

Thank you, (mother of Jordan - 8mos, susp. mito and

almost 4)

>

>

> > We are the parents of a " healthy " 8 mo old son & 4 year old

> daughter.

> >

> > The short version goes like this...

> > Our son was admitted to the hospital at 3 wks of age due to

> perioral

> > cyanosis (dusky coloring around his mouth and nose). His ped.

was

> > concerned about possible heart/brain problems. We were there for

a

> > week and he was diag. w/GERD and everthing else checked out

normal

> > (EEG/Echo/MRI of brain/EKG). The attend ped. ran a metabolic

screen

> > (not really sure why) and found his lactic acid was " critically "

> > elevated. The doctors thought they must have taken it

incorrectly

> > (not arterially) and retook the blood. It again came back high.

> We

> > were discharged with an apnea/brady monitor and told to follow up

> > with a geneticist. We retook his blood and it consitently came

> back

> > high as well as one organic acid in his urine was slightly

elevated.

> >

> > We were referred to Dr. Shoffner in Atlanta. We met with him and

> he

> > performed muscle biopsy last month, so will not have the results

> for

> > 4-8 more weeks.

> >

> > Has anyone been in a situation that the child has not had

clinical

> > symptoms and was still diagnosed with a mito disorder?

> >

> > Dr. Shoffner explained that symptoms range from mild to

> severe...what

> > is concidered mild?

> >

> > Any help would be appreciated. Thank you.

> >

> > & Glenn (Jordan 8 mos, 4)

[Guest guest]

> >

> >

> > > We are the parents of a " healthy " 8 mo old son & 4 year old

> > daughter.

> > >

> > > The short version goes like this...

> > > Our son was admitted to the hospital at 3 wks of age due to

> > perioral

> > > cyanosis (dusky coloring around his mouth and nose). His ped.

> was

> > > concerned about possible heart/brain problems. We were there

for

> a

> > > week and he was diag. w/GERD and everthing else checked out

> normal

> > > (EEG/Echo/MRI of brain/EKG). The attend ped. ran a metabolic

> screen

> > > (not really sure why) and found his lactic acid

was " critically "

> > > elevated. The doctors thought they must have taken it

> incorrectly

> > > (not arterially) and retook the blood. It again came back

high.

> > We

> > > were discharged with an apnea/brady monitor and told to follow

up

> > > with a geneticist. We retook his blood and it consitently came

> > back

> > > high as well as one organic acid in his urine was slightly

> elevated.

> > >

> > > We were referred to Dr. Shoffner in Atlanta. We met with him

and

> > he

> > > performed muscle biopsy last month, so will not have the

results

> > for

> > > 4-8 more weeks.

> > >

> > > Has anyone been in a situation that the child has not had

> clinical

> > > symptoms and was still diagnosed with a mito disorder?

> > >

> > > Dr. Shoffner explained that symptoms range from mild to

> > severe...what

> > > is concidered mild?

> > >

> > > Any help would be appreciated. Thank you.

> > >

> > > & Glenn (Jordan 8 mos, 4)

[Guest guest]

Dawn,

How old is Graham? Is he starting to stand? My son is 20 months and he sat good at 13 months. I was wondering how he is doing and how old he is. Hope we can chat

Thanks

Angel mom to Isaac

[Guest guest]

Becca is also mildly affected. She just turned 4 and doesn't walk without

support, but her language skills are age appropriate. She is somewhat

immature in her cognitive skills and does have a pretty severe seizure

disorder. She was not born early, but she was born in distress due to the

placenta not functioning. We almost lost her and they got her out just in

the nick of time. She also has " slightly " abnormal labs and we just got

back from UCSD where we saw Dr. Haas. They did a days worth of testing in

the hospital, but he felt a muscle biopsy was not warranted at this time

pending the results of her testing. We have been going in circles for 2 1/2

years now and still don't know if she even has a mito/metabolic disorder or

if she just suffered brain damage at birth. In some ways she presents with

mito symptoms, i.e., unexplained high fevers, inability to tolerate heat,

seizures, generalized weakness, etc. However, compared to what I read on

this list, if she does have mito, she is very fortunate to be very mildy

effected. Does anyone know if in cases like this, do they generally remain

the same, or is there still a chance of getting worse? Things have gone

really well for the past year, but with the test results pending my nerves

are getting a workout again!

Thanks for any info/support. You all are great!

Rhonda-Mom to Becca the Brave

Re: New members - Early Stages of Poss Mito?

> & Glenn,

>

> We are going through a somewhat similar situation. To look at our

> son, you wouldn't think anything is wrong--- except that he is 23

> months and doesn't walk or stand without support. He has very weak

> muscles in his legs and trunk, he is also very small for his age-- 19

> lbs. (His cognitive and fine motor skills are appropriate.)

> To complicate the matter he was born at 26 weeks for an unkown

> reason. (placenta stopped working) Although most doctors credit his

> slow development to prematurity-- a genetics doc at the mayo clinic

> thinks he has mito. His blood tests have come back slightly off. We

> are waiting now for the results of a muscle biopsy.

>

> You said " Dr. Shoffner explained that symptoms range from mild to

> severe...what is concidered mild? " .

>

> That is confusing us too. How can this disorder have such a wide

> range? I read these posts about children who are in bad shape, some

> even die.......if Graham does have mito....is that what I should

> expect?

>

> I'm not much help, but wanted to let you know that you're not alone.

>

> Dawn

> mom to Graham-- former 26 week preemie, gtube, glasses, dev delays,

> etc, etc.....

>

>

>

>

>

> > We are the parents of a " healthy " 8 mo old son & 4 year old

> daughter.

> >

> > The short version goes like this...

> > Our son was admitted to the hospital at 3 wks of age due to

> perioral

> > cyanosis (dusky coloring around his mouth and nose). His ped. was

> > concerned about possible heart/brain problems. We were there for a

> > week and he was diag. w/GERD and everthing else checked out normal

> > (EEG/Echo/MRI of brain/EKG). The attend ped. ran a metabolic screen

> > (not really sure why) and found his lactic acid was " critically "

> > elevated. The doctors thought they must have taken it incorrectly

> > (not arterially) and retook the blood. It again came back high.

> We

> > were discharged with an apnea/brady monitor and told to follow up

> > with a geneticist. We retook his blood and it consitently came

> back

> > high as well as one organic acid in his urine was slightly elevated.

> >

> > We were referred to Dr. Shoffner in Atlanta. We met with him and

> he

> > performed muscle biopsy last month, so will not have the results

> for

> > 4-8 more weeks.

> >

> > Has anyone been in a situation that the child has not had clinical

> > symptoms and was still diagnosed with a mito disorder?

> >

> > Dr. Shoffner explained that symptoms range from mild to

> severe...what

> > is concidered mild?

> >

> > Any help would be appreciated. Thank you.

> >

> > & Glenn (Jordan 8 mos, 4)

>

>

>

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

>

>

[Guest guest]

Dear Rhonda,

My son Connor has Complex III and IV deficiency. He is developmentally

delayed but we are,nt sure howmuch. He learned to walk at 3 and has started

talking (he just turned 4) but for two years we could'nt get the proper type

of feeding tube and all he did was lose more and more weight and energy.

Everytime they would do TPN feeding he'd get these horrendous infections.

Then when we changed dr's and hospitals we had success. He's now 31pds and

31in. and all this great stuff has been happening for the past year. Now we

are noticing he is having what may be petit mal seizures and he seems to be

having more and more trouble with his vision. So, does it get worse after a

good year? I'm right there with you crying in the middle of the night

thinking about what might be happening and waiting for appts that get

cancelled the day before. Everywhere I read says everything is progressive.

I don't know what to think.

I'll pray for you and hope.

Nicki

[Guest guest]

When first received his diagnosis they told us that a lot of

times the kids with mito progressed like a stair step.

The kids will be on one level for a while then seem to " drop " off the

ledge. The next step would be lower then seem to return to a level

that is slightly lower than the previous ledge. They told us that

the body does everything it can to maintain the level is it on but

when the non-functioning or defective mitochondria hit a certain

level the body has to reset it's priorities.

This seems to be true for . Other things that seem to drop him

off the level he is on is illness or heat or stress.

has complex IV deficiency but his is a surf1 mutation.

vision is affected in that his muscles do not tell his eyes where to

go correctly. He is also testing at 20/40 right now. is on

the feeding tube too. He used to walk but can't anymore. He is

losing his ability to speak. He is losing his ability to swallow.

The first year after his diagnosis he did not lose any abilities he

only slowed down a little. The second year after his diagnosis he

had a bad month in November and lost a lot of ground very quickly.

He has battled back from there. He had lost the ability to sit up or

to crawl and he can do both of those things now.

I can only repeat what you are probably sick of hearing, that all the

kids do anything in anyorder at anytime.

Sorry, Twana

> Dear Rhonda,

> My son Connor has Complex III and IV deficiency. He is

developmentally

> delayed but we are,nt sure howmuch. He learned to walk at 3 and

has started

> talking (he just turned 4) but for two years we could'nt get the

proper type

> of feeding tube and all he did was lose more and more weight and

energy.

> Everytime they would do TPN feeding he'd get these horrendous

infections.

> Then when we changed dr's and hospitals we had success. He's now

31pds and

> 31in. and all this great stuff has been happening for the past

year. Now we

> are noticing he is having what may be petit mal seizures and he

seems to be

> having more and more trouble with his vision. So, does it get

worse after a

> good year? I'm right there with you crying in the middle of the

night

> thinking about what might be happening and waiting for appts that

get

> cancelled the day before. Everywhere I read says everything is

progressive.

> I don't know what to think.

> I'll pray for you and hope.

> Nicki