Re: ped. ophthalmologist appt.

[Guest guest]

My son saw a peds opthamologist. They always looked for RP

(retinitis pigmentosa) They dilate the eyes and can see this. There

is also a test (under anesthesia) that looks for RP. An EMG.

Good luck

debs

[Guest guest]

Depending on the doctor there could be several tests. All easy. My daughter

Leah saw her eye doctor at 5 months of age because she wasn't

tracking. They would do all the tests that they normally do on you. Use the

light to see how they dilate, they look into the eyes. See

if Leah was following the light and seeing if she could see the animals moving

down the room. They had at several different appointments

dilate her pupils so they could really look into the eyes. They first put a

drop in her eyes so she wouldn't feel the sting of the other

drops. She also had a test done where they put electrodes on her head and had

her look at a computer screen. They could tell at what

vision she was seeing. This last time she really fussed. Because she didn't

like the headband on her head. Leah is now 3 years old and

we don't have to see the eye doctor for a year now. She is at 20/50 in both

eyes and 20/60 in either eye. As the doctor said, she is far

sighted and if of age would be legal to drive in Wisconsin. Good luck. The eye

doctor appointments were the easiest appointments for Leah

even if they would have to repeat a test. Let us know how it went Bethany.

mom to Leah

bethmcmullen@... wrote:

> My 18 month daughter, Grace, is scheduled for her first

> pediatric ophthalmologist appointment next month. What tests should

> be done at this visit? We are told she has a mitochondrial disorder,

> from abnormal MRI, blood, and urine tests. We are in process of

> getting appt. with Dr. Cohen. I just want to make sure the right

> tests are being completed, so we do not have to make repeat visits.

> (this has already happened with blood tests) I would appreciate any

> help/info re: what they are looking for.

> Thanks, Bethany

>

>

>

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[Guest guest]

I know when Becca went to the neuro-opthamologist for the first time, in

addition to checking her vision, they looked to see if there was any atrophy

in the vessels/ligaments/muscles and they also looked for a " cherry red

spot " which can be indicative of many disorders, however, they never would

not give us a full explanation of what those disorders are. Thankfully, she

had no cherry red spot and her vision is good except for a slight " lazy eye "

when she gets fatigued or after a seizure. Good luck to you and I hope all

goes well with the exam.

Rhonda - Mom to Becca the Brave and the awesome writer

[Guest guest]

Bethany,What would the abnormal MRI look like in a child with Mito? has had several. That's where the delayed myelin came up as well as iron deposits in the basal ganglia. I'm just wondering if the doctors have missed something for all of these years. What blood and urine tests do they do to check for Mito? 's geneticist said that he doesn't believe she has Mito because her blood and urine tests were normal. Can a child with normal blood and urine still have Mito? Thanks! Diane

>From: bethmcmullen@... >Reply-To: Mito >To: Mito >Subject: ped. ophthalmologist appt. >Date: Sat, 28 Apr 2001 02:39:33 -0000 > > >My 18 month daughter, Grace, is scheduled for her first >pediatric ophthalmologist appointment next month. What tests should >be done at this visit? We are told she has a mitochondrial disorder, >from abnormal MRI, blood, and urine tests. We are in process of >getting appt. with Dr. Cohen. I just want to make sure the right >tests are being completed, so we do not have to make repeat visits. >(this has already happened with blood tests) I would appreciate any >help/info re: what they are looking for. >Thanks, Bethany > > > Get your FREE download of MSN Explorer at http://explorer.msn.com

[Guest guest]

I can tell you that kids can be diagnosed with mito if blood and

urine are normal. Our son had no elevated lactate at any time and

the blood and urine several times came back normal. Someitmes the

results were not normal according to the lab values, but because they

didn't seem to follow any particular pattern were considered non-

diagnostic. Bood and urine are just screening tests, they are not

good tests for a definative diagnosis. Muscle biopsy was the test

that finially gave us a diagnosis.

Take Care,

[Guest guest]

All of my sons tests were normal...blood, urine, MRI, etc. When we went for the biopsy and the spinal tap was done is when the levels were abnormal and eventually got the diagnose. Normal test results initially don't rule anything out!

Heidi Harmon

[Guest guest]

Rhonda

How did they check the eyes? Was it involved? 's left

eye is lazy when he's tired-seems to be getting worse.

Thanks Lonnie

Rhonda Populus wrote:

I know when Becca went to the neuro-opthamologist

for the first time, in

addition to checking her vision, they looked to see if there was

any atrophy

in the vessels/ligaments/muscles and they also looked for a "cherry

red

spot" which can be indicative of many disorders, however, they

never would

not give us a full explanation of what those disorders are.

Thankfully, she

had no cherry red spot and her vision is good except for a slight

"lazy eye"

when she gets fatigued or after a seizure. Good luck to you

and I hope all

goes well with the exam.

Rhonda - Mom to Becca the Brave and the awesome writer

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[Guest guest]

Dear Diane:

Leah has had a couple of MRI's. Her first one was normal.

Then she got a virus with a fever and that's when things changed for us.

She had another MRI and that had a white spot on her global pallidus.

Then she had another MRI and that came back with the white spot gone.

She has had several blood and urine tests and they came back normal.

Nothing missing in her DNA, and all the other tests. She had blood

tests done when she had her cleft palate surgery at 9 months and a spinal

tap and all that came back normal. the only thing that indicated

mito was her fibroblast. We are having her cells grown again to try

and confirm the test. So that is where we are at with Leah.

As soon as we find out Leah's results will let this group know.

mom to Leah

john chika wrote:

Bethany,

What would the abnormal MRI look like in a child with Mito? has

had several. That's where the delayed myelin came up as well as iron deposits

in the basal ganglia. I'm just wondering if the doctors have missed something

for all of these years. What blood and urine tests do they do to check

for Mito? 's geneticist said that he doesn't believe she has Mito

because her blood and urine tests were normal. Can a child with normal

blood and urine still have Mito? Thanks! Diane

>From: bethmcmullen@...

>Reply-To: Mito

>To: Mito

>Subject: ped. ophthalmologist appt.

>Date: Sat, 28 Apr 2001 02:39:33 -0000

>

>

>My 18 month daughter, Grace, is scheduled for her first

>pediatric ophthalmologist appointment next month. What tests should

>be done at this visit? We are told she has a mitochondrial disorder,

>from abnormal MRI, blood, and urine tests. We are in process of

>getting appt. with Dr. Cohen. I just want to make sure the right

>tests are being completed, so we do not have to make repeat visits.

>(this has already happened with blood tests) I would appreciate any

>help/info re: what they are looking for.

>Thanks, Bethany

>

>

>

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