Re: Hannah's MRI

[Guest guest]

,

I am so sorry. You must be so overwelmed and confused. First of all. Where

do you live? Are you confident with your neurologist and team of docs? That

is where I would start. I am appalled that you received this information

via email without a medical diagnosis. It doesn't make any sense.

As a parent of a special needs boy who is almost 7, I can say that I have

learned that my husband and I are his advocates and we have always done our best

to get him in the hands of the docs we trust the most. It doens't mean we

have cured him but he has gotten so much better than we would have guessed

when he was 9 mos old. We live in Indianapolis and have been to Hopkins,

Cleveland Clinic and Chicago along with seeing all of the docs here in

Indianapolis prior. I would find out who is the best in the field with Hannahs

condition and go there-if you can. Please understand that we are not wealthy

people. We are average people struggling to do what we can for our son.

Don't forget the positive. She has responded to the diet. Her seizures

have reduced. Now you must continue to plug along and keep digging. Also,

take care of yourself. Ha that sounds easy I know. I am pregnant with my 3rd

child due in Feb. When I was pregnant with my 2nd son, I spent many nights in

the hospital and don't know how he is so normal.. I think that God sent his

angel to protect me and my baby. Try to trust in your faith and know that

there are people praying for you and your baby girl.

I am so sorry and wish I could help you. Please know that your family is in

my prayers.

mom to , almost 7, keto diet again after 1 year off, cp,

autism, seizure disorder, hypotonia and a real firecracker

[Guest guest]

We live in Atlanta GA and have been working with the doctors at the children's

hospital there that is partnered with Emory University. Her neurologist is great

(this is her second) and we are now seeking a second opinion from another

geneticist and neurogeneticist. Strange thing is her neurologist didn't order

the MRI. He wanted to wait until Hannah was older. The geneticist ordered it due

to Hannah's obvious small head size.

I just feel like I spend so much time researching possible diseases and reasons.

All her doctors are convinced the seizures and infantile spasms are due to an

underlying condition. All tests come back negative though.

Re: Hannah's MRI

,

I am so sorry. You must be so overwelmed and confused. First of all. Where

do you live? Are you confident with your neurologist and team of docs? That

is where I would start. I am appalled that you received this information

via email without a medical diagnosis. It doesn't make any sense.

As a parent of a special needs boy who is almost 7, I can say that I have

learned that my husband and I are his advocates and we have always done our

best

to get him in the hands of the docs we trust the most. It doens't mean we

have cured him but he has gotten so much better than we would have guessed

when he was 9 mos old. We live in Indianapolis and have been to

Hopkins,

Cleveland Clinic and Chicago along with seeing all of the docs here in

Indianapolis prior. I would find out who is the best in the field with

Hannahs

condition and go there-if you can. Please understand that we are not wealthy

people. We are average people struggling to do what we can for our son.

Don't forget the positive. She has responded to the diet. Her seizures

have reduced. Now you must continue to plug along and keep digging. Also,

take care of yourself. Ha that sounds easy I know. I am pregnant with my

3rd

child due in Feb. When I was pregnant with my 2nd son, I spent many nights

in

the hospital and don't know how he is so normal.. I think that God sent his

angel to protect me and my baby. Try to trust in your faith and know that

there are people praying for you and your baby girl.

I am so sorry and wish I could help you. Please know that your family is in

my prayers.

mom to , almost 7, keto diet again after 1 year off, cp,

autism, seizure disorder, hypotonia and a real firecracker

[Guest guest]

Hi -

I don't have a lot of answers for you, unfortunately. I,too, am just sick that

you received that news via e-mail. Shameful.

It sounds like Hannah is truly blessed to have such wonderful parents.

, my son, doesn't have mito issues, but I often go to the Mass. General

Braintalk web forum for info about his other issues. Parents there with

children with all sorts of neuro. issues offer great advice!

Below is the address:

http://brain.hastypastry.net

It's the child neurology 2 forum. In case that doesn't take you right to it.

Really, the people are wonderful and very supportive.

We will pray for your family tonight.

much, much love,

Leigh

Sign up for Internet Service under $10 dollars a month, at

https://signup.mybluelight.com

[Guest guest]

, Hannah's story is similar to Kristan's, I know exactly how

you are feeling. We are still trying to figure out the underlying

cause. Kristan's diagnosis of migrating partial seizures is a

diagnosis of exclusion. It frustrates us b/c it makes you think they

may be missing something. We get no metabolic answers from any of

her chemical investigations. The genetisist thinks the functional

part of her brain is not working properly. Kristan is scheduled for

an MRI next month. I can't imagine receiving the results by e-mail.

I was going to ask if you are seeing a geneticist, but I read in

another post you already are. We are sending Kristan's file to

another doctor for a second opinion along with a videotape so they

can see her during play, and when she has seizures. This doctor's

speciality is in metabolic investigations and we figure she may pick

up on something that everyone else has missed. Our genetitist

mentioned a PET scan. It is one step above the MRI. What it

involves is they inject a fluorescent probe and I thought he said

then glucose is burned and this scan studies where the seizures come

from and what is happening, it is normally done in adults but it is

done in children at Sick Kids in Toronto where we may be going for a

second opinion and are thinking of doing the PET scan. Maybe you

could ask your neuro or genetitist about a PET scan? There is also a

blood test that's called the 'FISH' test for short, sorry, I don't

know the full name, it looks for a piece of DNA that is missing from

the chromosomes. Kristan had that test in the summer and we are

still waiting for the results, this test takes time. Ask your neuro

about that test or you may already have had it?

You said you have seen 75% reduction in the seizures, the diet is

doing something for her and you are seeing improvement. At this time

last year Kristan (when she was one) sounded similar to how you

describe Hannah now. She is now sitting and has good head and trunk

control. With Hannah showing signs of improvement, it has to get

better, I pray it does, Kristan was where Hannah is now.

Hang in there , I know it is hard. Try to stay positive and

take one day at a time.

Satnam, mom to Kristan, 23 months

Keto kid since Aug. 2003 and currently weaning from the diet

> I need help. I am at such a loss and feeling hopeless and

devastated. Long story short, since most of you know Hannah, she is

10 months old with dx infantile spasms and underlying

metabolic/mitochondrial issues. She displayed high lactic acidosis

levels at 13 hours old, lowering her carbohydrate levels helped.

Seizure onset was about 2 weeks of age with clonic seizures followed

by myoclonic and tonic clonics. Now she does a new one that looks

like a tonic clonic but she stretches her head all the way to the

right and then violently shakes her head over to the left while her

left arm is clenched and also shaking violently. (has anyone seen

this kind of seizure...does it have a name?) She is now med free on

the ketogenic diet. She has been on the diet since August with a 4:1

ratio (still low cars, only 1.19g/day). We have good ketones and

about a 75% decrease in seizure activity. She has had both a skin

biopsy and a muscle biopsy. Both yielding no answers. Chromosome

workup is normal. She is able to bottle feed but is not yet on

solids. Developmentally she is at 0-3 months. She doesn't hold up her

head, but is showing better muscle tone. She tends to be both hypo

and hypertonic. She also has cortical visual impairment. She does

show VERY slow, but steady improvement. She is in every therapy

imaginable.

>

> Her last MRI was last week. The results were..... " according to the

report, there has been " marked progression of volume loss " . In other

words, Hannah's brain has been getting smaller in proportion to the

surrounding fluid. There is relatively more volume loss in the

cerebellum, which is responsible for balance and coordination, but

there is cerebral volume loss as well. I think we are seeing

progression of her disease. " (yes, I received this in an email this

morning)

>

> Now, my husband and I sit and cry with still no answers. I have

kept such a positive attitude, but I am scared. With no dx we have no

prognosis. I do not know what is to come of our sweat little baby. 10

months ago, I thought we were so " lucky' catching " it " early. Now I

am feeling we are losing hope. She is our first and I am 2 months

pregnant with our second. I know she is in all of your prayers and

for that I am thankfull, but what am looking for are answers or

directions in what research road I should take. Originally, they

thought Hannah had pyruvate dehyrogenaise deficiency. Then they were

looking more towards mitochondrial. I was looking into Rett Syndrome,

but Hannah has displayed problems since 12 hours old. Her delivery

was on time and good. Her AGPAR scores were also fine.

>

> Please help me find answers,

>

>

>

>

[Guest guest]

Hi , you sound very depressed and weary, and who on earth can blame

you

That email would have horrified me too - progression of WHAT disease? A very

sweeping statement to make without an actual diagnosis!

Muscle and skin biopsies would be what I would have asked about, but you have

already had these done....Has she had Urine Organic Acids tested? And a spinal

tap? (including screening for glut-1?) Primary carnitine deficiency?

Can you get a referral to the Baylor Institute? I have heard many glowing

reports about their advanced metabolic/mitochondrial testing, where they have

identified disorders that others have been unable to.

Or perhaps to Dr De Vivo - metabolic neurologist? (he is one of only a handful

in the world I believe) I think he may be semi-retired, but I gather he is still

active in a consult/research role. Don't quote me on that, but I'm sure your

current neuro could find that out.

With a positive response seizure wise to keto, you would assume that whatever

is going on is based around a glucose/carb disorder of sorts, (?) but as to

what, I'm afraid I have no idea.

The fact that she is showing gradual improvement, however slow, has to be a

step in the right direction, all I can think of to say apart from considering

referrals elsewhere is to say keep on looking, and keep on fighting for her -

you guys have come so far this past few mths...

----- Original Message -----

From: Shapiro

I need help. I am at such a loss and feeling hopeless and devastated. Long

story short, since most of you know Hannah, she is 10 months old with dx

infantile spasms and underlying metabolic/mitochondrial issues. She displayed

high lactic acidosis levels at 13 hours old, lowering her carbohydrate levels

helped. Seizure onset was about 2 weeks of age with clonic seizures followed by

myoclonic and tonic clonics. Now she does a new one that looks like a tonic

clonic but she stretches her head all the way to the right and then violently

shakes her head over to the left while her left arm is clenched and also shaking

violently. (has anyone seen this kind of seizure...does it have a name?) She is

now med free on the ketogenic diet. She has been on the diet since August with a

4:1 ratio (still low cars, only 1.19g/day). We have good ketones and about a 75%

decrease in seizure activity. She has had both a skin biopsy and a muscle

biopsy. Both yielding no answers. Chromosome workup is normal. She is able to

bottle feed but is not yet on solids. Developmentally she is at 0-3 months. She

doesn't hold up her head, but is showing better muscle tone. She tends to be

both hypo and hypertonic. She also has cortical visual impairment. She does

show VERY slow, but steady improvement. She is in every therapy imaginable.

Her last MRI was last week. The results were..... " according to the report,

there has been " marked progression of volume loss " . In other words, Hannah's

brain has been getting smaller in proportion to the surrounding fluid. There is

relatively more volume loss in the cerebellum, which is responsible for balance

and coordination, but there is cerebral volume loss as well. I think we are

seeing progression of her disease. " (yes, I received this in an email this

morning)

Now, my husband and I sit and cry with still no answers. I have kept such a

positive attitude, but I am scared. With no dx we have no prognosis. I do not

know what is to come of our sweat little baby. 10 months ago, I thought we were

so " lucky' catching " it " early. Now I am feeling we are losing hope. She is our

first and I am 2 months pregnant with our second. I know she is in all of your

prayers and for that I am thankfull, but what am looking for are answers or

directions in what research road I should take. Originally, they thought Hannah

had pyruvate dehyrogenaise deficiency. Then they were looking more towards

mitochondrial. I was looking into Rett Syndrome, but Hannah has displayed

problems since 12 hours old. Her delivery was on time and good. Her AGPAR scores

were also fine.

Please help me find answers,

[Guest guest]

Ditto what everyone else says. I would question the spinal tap too, to test

for neurotransmitter disease and other genetic causes. It sounds like your

doctors are being pretty thorough. Call Baylor University Medical Center in

Texas and ask for an info packet - Institute of Metabolic Disease.

.

The lab director is Hyland.

Daryl DeVivo is at Columbia Presbyterian in NYC. I think he still sees

patients. . Looks like his hours are 1-5, M,W, Th.

Have you tested for NCL disorders (i.e. Battens disease?). Sometimes assoc.

w/ visual impairment and seizures and are progressive. Scary stuff but it's

testable.

What did they do with the muscle biopsy? Did they test for mitochondrial

disease using it? Was it sent " out? " Ours was processed in-house and

determined normal, but it was sent to CIDEM in Cleveland 2 years later and

came back positive for mito disease. (still unspecified). We then did mito

DNA testing (simple blood draw). Find out where the muscle biopsy was

processed.

Same with skin biopsy. Ours was eventually sent to a guy named Nenad Blau

in Switzerland. Mr. Skin Biopsy diagnostician of the world, I guess. Was

also processed locally first. Your metabolic/mito team should be familiar

w/ these names.

As far as MRI, my son's began showing atrophy (shrinkage) several years ago.

First it was cerebellum. Then it was enlarged ventricles. We cannot find a

reason, no idea why, but you will be encouraged to know that both

" shrinkages " are stable and have progressed no further, in several years

now.

Hang in there. She shows some improvement, which is encouraging. Focus on

the good stuff too. And, take care of YOU!

Barb Swoyer, Jake's mom

Re: Hannah's MRI

>

> Hi , you sound very depressed and weary, and who on earth can

blame you

> That email would have horrified me too - progression of WHAT disease? A

very sweeping statement to make without an actual diagnosis!

> Muscle and skin biopsies would be what I would have asked about, but you

have already had these done....Has she had Urine Organic Acids tested? And a

spinal tap? (including screening for glut-1?) Primary carnitine deficiency?

> Can you get a referral to the Baylor Institute? I have heard many

glowing reports about their advanced metabolic/mitochondrial testing, where

they have identified disorders that others have been unable to.

> Or perhaps to Dr De Vivo - metabolic neurologist? (he is one of only a

handful in the world I believe) I think he may be semi-retired, but I gather

he is still active in a consult/research role. Don't quote me on that, but

I'm sure your current neuro could find that out.

> With a positive response seizure wise to keto, you would assume that

whatever is going on is based around a glucose/carb disorder of sorts, (?)

but as to what, I'm afraid I have no idea.

> The fact that she is showing gradual improvement, however slow, has to

be a step in the right direction, all I can think of to say apart from

considering referrals elsewhere is to say keep on looking, and keep on

fighting for her - you guys have come so far this past few mths...

>

>

>

>

> ----- Original Message -----

> From: Shapiro

>

>

> I need help. I am at such a loss and feeling hopeless and devastated.

Long story short, since most of you know Hannah, she is 10 months old with

dx infantile spasms and underlying metabolic/mitochondrial issues. She

displayed high lactic acidosis levels at 13 hours old, lowering her

carbohydrate levels helped. Seizure onset was about 2 weeks of age with

clonic seizures followed by myoclonic and tonic clonics. Now she does a new

one that looks like a tonic clonic but she stretches her head all the way to

the right and then violently shakes her head over to the left while her left

arm is clenched and also shaking violently. (has anyone seen this kind of

seizure...does it have a name?) She is now med free on the ketogenic diet.

She has been on the diet since August with a 4:1 ratio (still low cars, only

1.19g/day). We have good ketones and about a 75% decrease in seizure

activity. She has had both a skin biopsy and a muscle biopsy. Both yielding

no answers. Chromosome workup is normal. She is able to bottle feed but is

not yet on solids. Developmentally she is at 0-3 months. She doesn't hold up

her head, but is showing better muscle tone. She tends to be both hypo and

hypertonic. She also has cortical visual impairment. She does show VERY

slow, but steady improvement. She is in every therapy imaginable.

>

> Her last MRI was last week. The results were..... " according to the

report, there has been " marked progression of volume loss " . In other words,

Hannah's brain has been getting smaller in proportion to the surrounding

fluid. There is relatively more volume loss in the cerebellum, which is

responsible for balance and coordination, but there is cerebral volume loss

as well. I think we are seeing progression of her disease. " (yes, I

received this in an email this morning)

>

> Now, my husband and I sit and cry with still no answers. I have kept

such a positive attitude, but I am scared. With no dx we have no prognosis.

I do not know what is to come of our sweat little baby. 10 months ago, I

thought we were so " lucky' catching " it " early. Now I am feeling we are

losing hope. She is our first and I am 2 months pregnant with our second. I

know she is in all of your prayers and for that I am thankfull, but what am

looking for are answers or directions in what research road I should take.

Originally, they thought Hannah had pyruvate dehyrogenaise deficiency. Then

they were looking more towards mitochondrial. I was looking into Rett

Syndrome, but Hannah has displayed problems since 12 hours old. Her delivery

was on time and good. Her AGPAR scores were also fine.

>

> Please help me find answers,

>

>

>

>

>

>

>

>

[Guest guest]

Hi again,

More good thoughts. I forget where you live , but there is a PET

scan available in Boston, the only catch is that it's a bit controversial to

do one on the diet because they usually use a gloucose tracer. Some insist

it skews the results. Jake has had 2-3 PETS now and all have been

inconclusive.

We've also done FISH, ordered by a geneticist, can't remember exactly what

either. Fragile X? Or is that just in males? We've done so many, I'll

keep thinking.

Barb Swoyer, Jake's mom, Boston

Re: Hannah's MRI

Our genetitist

> mentioned a PET scan. It is one step above the MRI. What it

> involves is they inject a fluorescent probe and I thought he said

> then glucose is burned and this scan studies where the seizures come

> from and what is happening, it is normally done in adults but it is

> done in children at Sick Kids in Toronto where we may be going for a

> second opinion and are thinking of doing the PET scan. Maybe you

> could ask your neuro or genetitist about a PET scan? There is also a

> blood test that's called the 'FISH' test for short, sorry, I don't

> know the full name, it looks for a piece of DNA that is missing from

> the chromosomes. Kristan had that test in the summer and we are

> still waiting for the results, this test takes time. Ask your neuro

> about that test or you may already have had it?

[Guest guest]

Hi ,

<