New

[Guest guest]

Hello everyone! I have been lurking for about a week or so just

reading up on what you all go through with mito dosorders. Let me

introduce myself.....My name is Vicki and I am the mother to a

beautiful 7 mo. old boy named Caden. He was 2 days over due and I

was induced. He weighed 8 lbs. 3 oz and was 21 in. long. When

Caden was born, his low blood sugar kept us in the hospital for an

extra day or 2, then his jaundice reared it's ugly head. After we

were finallly released to go home after 6 days in the hospital, we

were home for 2 days where Caden threw up everything he took in. We

were re-admitted that Friday and were flown to another, bigger

hospital on Monday. It was there that his 2nd upper GI showed

severe reflux. He was put on 3 meds: reglan, bethanichol, and

zantac and they seeme d to control the reflux enough for us to go

home. When Caden was about 3 months old, we noticed he wasn't doing

some of the things that other babies born just days before him were

doing, such as tracking with his eyes, attempting to hold his head

up, look at toys or grab for them, and so on. We went in to our ped

with our concerns and he referred us to our rehab center for PT and

OT. We go twice a week. It was here that they told us that Caden

had low muscle tone. I have a friend who's daughter has low tone,

so I didn't concern myself too much with it. He also referred us to

a ped. opthamologist. When the optha. looked into Caden's eyes,

they were perfectly normal, so he should have been seeing fine. He

thought maybe it was just slow development. Then we saw a

geneticist. She saw nothing wrong with Caden, told us his low tone

was only in his neck and trunk, and took blood for a chromo. study,

which came back normal. Caden had passed his newborn screening for

his ears with each ear at different times, so the rehab center

wanted him to pass an ABR hearing test which went miserably because

he woke up screaming with reflux in the middle of it. He later had

an EDG and ph probe done to measure his reflux and correlate his

reflux with his screaming. They did another ABR while he was out

and he failed again. His ph probe showed mild reflux now and the

probe showed he wasn't refluxing when he was crying and vice versa.

We then went to an ENT who put tubes in Caden's ears because he had

a 20-30% hearing loss due to fluid in his ears from the reflux.

This helped his hearing tremendously! The second tme we saw the

opthamologist, he seemed to think, as we did, that Caden's eyes were

getting better. He then told us that he wanted to know what the

neurologist had to say about Caden. Now, we are at 7 mos. and 1

week old and Caden still can't hold up his head and we are no where

near sitting. We saw the neurologist on May 4. We went in thinking

Caden might have CP, but were still hopeful because he had a normal

CT scan and EEG performed earlier...about 4 months old. Wehad

thought he was having seizures at one time, but the tests came back

normal and we haven't seen the behavior again. The neurologist

dropped a bomb on our world. I can't remember much of the appt.

after he said something was wrong with Caden's brain, but my husband

said he mentioned Mitochondrial disorders. He ordered an MRI/MRS

which we had done this past Wednesday and should get the results

from today. He was looking for encephalopathy (?) and basil ganglia

lactose in his brain. Does this sound familiar to anyone? He is

basing his observations on the facts that: 1. Caden's low tone, 2.

His inability to communicate with the world, and 3. His constant

movement. Caden coo's all the time, but he can't reach out and grab

for things he wants and so on. The neuro said based on those 3

things, that it could be a long list of things and he wouldn't give

us any names of anything. Caden is the most beautiful baby we have

ever seen. (an unbiased opinion!) He looks perfectly normal when

you see him. Besides his reflux, he really hasn't been sick at

all. He eats great and always has. He has the most beautiful smile

you have ever seen. He is our first child and the first grandchild

on my side of the family. You can imagine how spoiled he is!! He

has all these toys that he can't play with. We know he can see

light, because he always turns towards it and he laughs at shadows

that pass his face and loves peek-a-boo. I look back now and wonder

about all the screaming that we thought was reflux pain and I wonder

if that was really what it was. The neuro. gave us best case

scenario is Caden being able to take care of himself one day and

worse case scenario is " shortened life expectancy. " took

that as to be 30 yrs old, I took it to be MUCH less. Of course

after we saw the neuro, we went home and started researching mito

dosorders and found some info we wished we hadn't had to read and my

husband decided my interpretation of shortened life expectancy was

more accurate.

Well that is our story....now I have a few questions. Any info

would be greatly appreciated. If Caden has a mito disorder, what do

I need to ask for next? Is a muscle biopsy the next step? I know

we need to be able to have it done fresh, not frozen if so. Does

Caden's story sound familiar to any of you? Does it sound like

mito? If Caden can't hold his head up yet, can I ever expect him to

be able to?? What about sitting, walking?? Do I need to be doing

something different for him now, in the mean time?? What else do we

need to know?? How do you cope day to day? Did I give this to my

son? Will I ever be able to have more children? Will they have

mito also?? HELP please! I appreciate you all reading my long post

and any info you can give us.

Vicki &

Caden: 10/08/03 Reflux, laryngomalacia, low tone, possible vision

impaired, possible mito disorder..Our wonderful " noodle " !!