Re: New to Board

[Guest guest]

Hi

Thanks for your email. We have been referred for Genetic counselling and are

just waiting for an appointment. I am in New Zealand so not sure bout getting

into the studies you mention? But we do have good specialists here that are

making sure we get tested. They have also said that nothing may come up but its

worth a try. I do want to have it done just in case, as we do want to have

another baby.

I understand what you mean about it being genetic but not hereditary, I hope

that is the case for us so that we can have another one. Did you go on to have

more? Is Maureen your only child?

thanks for your time.

Regards

Kat

________________________________

To: polymicrogyria

Sent: Tue, 17 May, 2011 5:37:11 AM

Subject: RE: New to Board

Re: Genetic Testing.

I've taken Maureen to 5 different geneticists, and so far nothing's come up on

the testing. I'm curious how many people here have a syndrome diagnosis, or a

" cause " for their kid's PMG?

Kat, I'd recommend going to a geneticist, and having a microarray done. It may

not come up with anything, but it might. If you enroll in the various studies

of the doctors that people have mentioned (Dobyns, Walsh, and Sherr), they also

do genetic testing. Be aware, that usually nothing comes up though.

That being said, in our case, it probably is genetic, they just don't know what

it is.

I don't know how much you know about genetics, so forgive me if this is too

simple, but even if it is genetic, that doesn't necessarily mean it's

hereditary. Genetic abnormalities can arise spontaneously. In our

circumstance, the doctors have agreed that they feel it probably IS genetic,

even though it hasn't come up on a test, but probably not hereditary, so the the

risk of it occurring again is fairly low.

To: polymicrogyria

From: cutekat@...

Date: Mon, 16 May 2011 07:27:52 +0000

Subject: New to Board

Hi

I've replied to another post but just wanted to say hi to everyone.

Our baby girl started having seizures from 11 weeks and after two weeks of

extensive testing we were told she has Neural Migration Disorder. Named

polymicrogria, on the left side. She suffers from daily infantile spasms and is

heavily medicated. These meds help but she has daily break through spasms. At 4

months she also had a tumour removed from her cerebellem.

She is now 8mths old, is yet to hold her head up on her own.. She is very vocal

and with the help of an OT is now stronger on her right side. She has cortical

impairment but I've been told they won't know until shes older how well she can

see, but I definetly know that she can, so we are working with a visual resource

teacher aswell.

She is a beautiful girl and tries so hard every day. I'm interested in hearing

how others are doing, especially with development.

Also have other parents gone on to have more children, or had genetic testing

done? Our girl is our first and we are wanting more but are scared this could

happen again.

Thanks for your time.

Kat

[Guest guest]

Hi Diane

Thanks for your email. Is unilateral meaning its in more than one area of the

brain? I am hoping genetic testing will give us some answers but I guess it may

not. I've heard alot of cases of PMG they never find out why it happened.

Regards

Kat

________________________________

To: polymicrogyria

Sent: Tue, 17 May, 2011 5:43:11 AM

Subject: RE: New to Board

Welcome to the group. I have 4 kids and only one with PMG. Nisha was seen by Dr.

Dobyns and it was unknown cause for the PMG but said that the other kids had 5%

chance of having it since it was unilateral. Diane

To: polymicrogyria

From: cutekat@...

Date: Mon, 16 May 2011 07:27:52 +0000

Subject: New to Board

Hi

I've replied to another post but just wanted to say hi to everyone.

Our baby girl started having seizures from 11 weeks and after two weeks of

extensive testing we were told she has Neural Migration Disorder. Named

polymicrogria, on the left side. She suffers from daily infantile spasms and is

heavily medicated. These meds help but she has daily break through spasms. At 4

months she also had a tumour removed from her cerebellem.

She is now 8mths old, is yet to hold her head up on her own. She is very vocal

and with the help of an OT is now stronger on her right side. She has cortical

impairment but I've been told they won't know until shes older how well she can

see, but I definetly know that she can, so we are working with a visual resource

teacher aswell.

She is a beautiful girl and tries so hard every day. I'm interested in hearing

how others are doing, especially with development.

Also have other parents gone on to have more children, or had genetic testing

done? Our girl is our first and we are wanting more but are scared this could

happen again.

Thanks for your time.

Kat

[Guest guest]

Hi

What is ACTH? Our girl is on Epilim, Clonaz & Vigabactrim. She is 8mths and

still having regular spasms. I've been told they will stop and may be replaced

with other seizures as she gets older. What complex partial seizures does Ella

have? Are they hard to control?

Does Ella hold her head up, sit or walk? If so were these things delayed? It

sounds like she is doing great at therapy. I have gotten our girl Siera into

therapy and we are hoping she will gain alot of strength from it and learn to

hold her head up.

Do you have other children? We would like to have another one next year but are

very worried this may happen again, we are on the waiting list for genetic

testing but I've been told sometimes it never shows anything up.

Thanks for your time.

Regards

Kat

________________________________

To: " polymicrogyria " <polymicrogyria >

Sent: Tue, 17 May, 2011 6:45:10 AM

Subject: Re: New to Board

Our daughter Ella had infantile spasms too caused by PMG. She is 2 1/2 years old

now, and she has been spasms-free since 6 months of age after a course of ACTH.

What medications is your daughter taking?

Ella went a long time without any seizures at all, but in March, she started

having some complex partial seizures a few times a month that we

are still trying to get under control.

She goes to a full-time day treatment clinic that provides therapy on site. She

graduated from PT, but is still in OT & speech. She has an increasing

vocabulary, and her swallowing & self-help skills are improving all the time.

She is social, charming, smart, and a handful . We are proud of her progress

and hope she continues to beat the odds.

Feel free to email me if you have any questions, Kat.

Sincerely,

--

[Guest guest]

Kat, Unilateral means the brain did not form on one side for Nisha it was her

right side. This makes her motor skills weak on the left side. Nisha has about

20% of holes and smooth brain on the right edge like around her ear and frontal.

It seems horrible but Nisha is developing great of course we do lots of

therapy. I prefer to learn it myself and provide theraputic activities as part

of our lifestyle.

Nisha started with partial and partial complex seizures at 14 mos but have been

controlled with meds. The doctors say that controlling seizures is the worst

part of this disorder they can cause regression and learning focus problems.

One thing is just do problem solving daily, ask question we are here to help.

Set priorities in development and celebrate even small milestones. Most of all

enjoy your baby this does not change this is your baby and you are the loving

mother. Remember this is a your journey it is not a sprint!

Diane

New to Board

Hi

I've replied to another post but just wanted to say hi to everyone.

Our baby girl started having seizures from 11 weeks and after two weeks of

extensive testing

[Guest guest]

Kat,

ACTH is a hormone shot that is given over 6-8 weeks, and it's side effects are

like high dose steroids. It was just approved by the FDA here in the US for use

in infantile spasms recently but has been used to treat them for over 50 years

with success.

It was our miracle drug for Ella. After she got to a therapeutic dose, she never

had another spasm, and that was almost 2 years ago now.

Because of her, my husband and I have become child epilepsy advocates & are

passionate about helping other parents walking a similar path.

Infantile spasms can be devastating and hard to get rid of, but just because

your daughter has them doesn't mean you have to accept them as the way it will

always be for her. Keep looking for something that might work, and if your

neurologist is unwilling to help you, get a second opinion. There are lots of

options out there--ACTH, the ketogenic diet & even surgery. Dr. Chugani in

Detroit is a leading expert in surgery to correct IS, and because your daughter

has PMG he might be able to isolate the area that is triggering seizures (called

a focus) and remove it.

Ella has complex partials that cause her to lose the ability to stand on her own

two feet for a short time. She falls over & and her eyes are vacant & her face

is droopy. She's only had them for a couple of months, so we haven't quite found

a med combo that works yet, but we will, I'm sure of it. Fortunately, they don't

seem to interrupt her development at this point.

Physically, Ella is walking and has met all her milestones up to that

point--though she was delayed in meeting them. She only just started walking at

17 months. She had begun to roll over when her spasms began at 5 months & she

lost that ability for a while. The worst part about IS is that the brain never

gets a break while the hypsarrhythmia pattern of IS is present, so development

is not able to happen. The IS must be eradicated to give our children the best

chance to develop.

About genetic testing, we never really considered it since the doctors felt like

Ella's one-sided PMG was just a fluke of development (rather than bilateral

which more often has a hereditary link). She is our youngest child of three

right now, but I am pregnant with our forth & it is something I've been

concerned about for sure. I trust God will carry us through no matter what, and

I believe that all children are a blessing.

Have you found the infantile spasms group on Yahoo? It's a great group of people

& they share lots of info together. Also, if you're on facebook there are a

couple of IS groups on there too. I'm so glad to have these online communities

of support.

All my best,

Hi

What is ACTH? Our girl is on Epilim, Clonaz & Vigabactrim. She is 8mths and

still having regular spasms. I've been told they will stop and may be replaced

with other seizures as she gets older. What complex partial seizures does Ella

have? Are they hard to control?

Does Ella hold her head up, sit or walk? If so were these things delayed? It

sounds like she is doing great at therapy. I have gotten our girl Siera into

therapy and we are hoping she will gain alot of strength from it and learn to

hold her head up.

Do you have other children? We would like to have another one next year but are

very worried this may happen again, we are on the waiting list for genetic

testing but I've been told sometimes it never shows anything up.

Thanks for your time.

Regards

Kat

--

[Guest guest]

Hi

Thanks so much for your reply.

We saw the Neuro Team yesterday at Starship childrens hospital, they are very

good. I mentioned the ACTH treatment and they agreed its an option and we are

going to look into in this month. We have given Siera a course of steriods

already back in Feb, it stopped her spams completely but as soon as she cam off

them they came back.

We looked into the Keto diet but she was to young for the formula mix. She has

not yet started solids, we are hoping to do that this week.

It sounds like Ella is doing very well, you must be very proud of her.

We have booked Siera in to therapy at a clinic staring this week and she has had

an OT coming to the house.

We are altering her meds regulary hoping to find something that works, I am

working closely with the Neuro team on this and am suggesting anything I can

find or that is recommended from other parents.

My partner and I are wanting to try for our next baby next year, we are of

course worried but feel as along as we get regular scans and are monitored

closely that its worth the risk. Our baby girl is a gift and I really want her

to have a sibling.

Good luck with your pregnancy, are they doing any testing for you as you get

through the weeks?

Keen to keep in touch to see how you are. Take care and thanks again.

Kat

>

> Kat,

>

> ACTH is a hormone shot that is given over 6-8 weeks, and it's side effects are

like high dose steroids. It was just approved by the FDA here in the US for use

in infantile spasms recently but has been used to treat them for over 50 years

with success.

>

> It was our miracle drug for Ella. After she got to a therapeutic dose, she

never had another spasm, and that was almost 2 years ago now.

>

> Because of her, my husband and I have become child epilepsy advocates & are

passionate about helping other parents walking a similar path.

>

> Infantile spasms can be devastating and hard to get rid of, but just because

your daughter has them doesn't mean you have to accept them as the way it will

always be for her. Keep looking for something that might work, and if your

neurologist is unwilling to help you, get a second opinion. There are lots of

options out there--ACTH, the ketogenic diet & even surgery. Dr. Chugani in

Detroit is a leading expert in surgery to correct IS, and because your daughter

has PMG he might be able to isolate the area that is triggering seizures (called

a focus) and remove it.

>

> Ella has complex partials that cause her to lose the ability to stand on her

own two feet for a short time. She falls over & and her eyes are vacant & her

face is droopy. She's only had them for a couple of months, so we haven't quite

found a med combo that works yet, but we will, I'm sure of it. Fortunately, they

don't seem to interrupt her development at this point.

>

> Physically, Ella is walking and has met all her milestones up to that

point--though she was delayed in meeting them. She only just started walking at

17 months. She had begun to roll over when her spasms began at 5 months & she

lost that ability for a while. The worst part about IS is that the brain never

gets a break while the hypsarrhythmia pattern of IS is present, so development

is not able to happen. The IS must be eradicated to give our children the best

chance to develop.

>

> About genetic testing, we never really considered it since the doctors felt

like Ella's one-sided PMG was just a fluke of development (rather than bilateral

which more often has a hereditary link). She is our youngest child of three

right now, but I am pregnant with our forth & it is something I've been

concerned about for sure. I trust God will carry us through no matter what, and

I believe that all children are a blessing.

>

> Have you found the infantile spasms group on Yahoo? It's a great group of

people & they share lots of info together. Also, if you're on facebook there are

a couple of IS groups on there too. I'm so glad to have these online communities

of support.

>

> All my best,

>

>

> Hi

>

> What is ACTH? Our girl is on Epilim, Clonaz & Vigabactrim. She is 8mths and

> still having regular spasms. I've been told they will stop and may be replaced

> with other seizures as she gets older. What complex partial seizures does Ella

> have? Are they hard to control?

>

> Does Ella hold her head up, sit or walk? If so were these things delayed? It

> sounds like she is doing great at therapy. I have gotten our girl Siera into

> therapy and we are hoping she will gain alot of strength from it and learn to

> hold her head up.

>

> Do you have other children? We would like to have another one next year but

are

> very worried this may happen again, we are on the waiting list for genetic

> testing but I've been told sometimes it never shows anything up.

>

> Thanks for your time.

>

> Regards

> Kat

>

> --

>

>

>

>

[Guest guest]

Hi Diane

Thanks for your email, you are very wise. I agree about enjoying our babies for

what they are. My girl is a gift for sure and I treasure her so. We are hoping

to try for another baby next year, I'm very worried about the whole process but

I have take a leap of faith and do it.

Siera had a follow up MRI two days ago, they have confirmed she has left sided

PMG and irregular shaped ventricles. She starts therapy at a clinic this week

but until now we have an an OT coming to the house and I also take her through

her exercises several times a day.

Sounds like Nisha is doing very well and that you are a dedicated Mum!

Thanks for the support, look forward to keeping in touch.

Cheers

Kat

________________________________

To: " polymicrogyria " <polymicrogyria >

Sent: Wed, 18 May, 2011 12:24:12 AM

Subject: Re: New to Board

Kat, Unilateral means the brain did not form on one side for Nisha it was her

right side. This makes her motor skills weak on the left side. Nisha has about

20% of holes and smooth brain on the right edge like around her ear and frontal.

It seems horrible but Nisha is developing great of course we do lots of therapy.

I prefer to learn it myself and provide theraputic activities as part of our

lifestyle.

Nisha started with partial and partial complex seizures at 14 mos but have been

controlled with meds. The doctors say that controlling seizures is the worst

part of this disorder they can cause regression and learning focus problems.

One thing is just do problem solving daily, ask question we are here to help.

Set priorities in development and celebrate even small milestones. Most of all

enjoy your baby this does not change this is your baby and you are the loving

mother. Remember this is a your journey it is not a sprint!

Diane

New to Board

Hi

I've replied to another post but just wanted to say hi to everyone.

Our baby girl started having seizures from 11 weeks and after two weeks of

extensive testing

------------------------------------

[Guest guest]

Hi

Thanks for your email. We are getting the testing done but have been told it may

not show up anything. I am keen to have another baby anyway, the Neuro team have

told us they think its just bad luck, not genetic and the chances of it

happening again are low. They said I would have a high risk pregnancy that would

be monitored, so I guess extra scans etc..

How old is your girl? How is she doing overall. Do you have other children.

Nice talking with you.

Thanks

Kat

________________________________

To: polymicrogyria

Sent: Tue, 17 May, 2011 5:37:11 AM

Subject: RE: New to Board

Re: Genetic Testing.

I've taken Maureen to 5 different geneticists, and so far nothing's come up on

the testing. I'm curious how many people here have a syndrome diagnosis, or a

" cause " for their kid's PMG?

Kat, I'd recommend going to a geneticist, and having a microarray done. It may

not come up with anything, but it might. If you enroll in the various studies

of the doctors that people have mentioned (Dobyns, Walsh, and Sherr), they also

do genetic testing. Be aware, that usually nothing comes up though.

That being said, in our case, it probably is genetic, they just don't know what

it is.

I don't know how much you know about genetics, so forgive me if this is too

simple, but even if it is genetic, that doesn't necessarily mean it's

hereditary. Genetic abnormalities can arise spontaneously. In our

circumstance, the doctors have agreed that they feel it probably IS genetic,

even though it hasn't come up on a test, but probably not hereditary, so the the

risk of it occurring again is fairly low.

To: polymicrogyria

From: cutekat@...

Date: Mon, 16 May 2011 07:27:52 +0000

Subject: New to Board

Hi

I've replied to another post but just wanted to say hi to everyone.

Our baby girl started having seizures from 11 weeks and after two weeks of

extensive testing we were told she has Neural Migration Disorder. Named

polymicrogria, on the left side. She suffers from daily infantile spasms and is

heavily medicated. These meds help but she has daily break through spasms. At 4

months she also had a tumour removed from her cerebellem.

She is now 8mths old, is yet to hold her head up on her own. She is very vocal

and with the help of an OT is now stronger on her right side. She has cortical

impairment but I've been told they won't know until shes older how well she can

see, but I definetly know that she can, so we are working with a visual resource

teacher aswell.

She is a beautiful girl and tries so hard every day. I'm interested in hearing

how others are doing, especially with development.

Also have other parents gone on to have more children, or had genetic testing

done? Our girl is our first and we are wanting more but are scared this could

happen again.

Thanks for your time.

Kat

[Guest guest]

Dear Kat,

You're welcome!

I hope you will have success with ACTH. I'm glad your neuro is familiar with

it. If you have any trouble getting the medication, please email me directly

mdaniel78 [at] gmail [dot] com. I can give you the contact information of

the associate director of specialty distribution at Questcor who can

probably assist you. I'm not certain how it works outside of the US, but I

imagine they have dealt with that before.

Best wishes,

" Thank you for your email - it helped alot

Posted by: " Kat Reid " cutekat@... cutekat@...

Thu Jun 2, 2011 1:39 am (PDT)

Hi

i just wanted to thank you for sharing your info with me. You mentioned the

ACTH

treatment.... we saw the neuro team 3 weeks ago and I mentioned it to the

lead

neuro doc and she agreed to give it a go, as she has worked in USA she knew

all

about it and has arranged to try Siera on it starting next week. I'm not

going

to get my hopes up but if it helps at all I will be very happy.

How is Ella doing?

Cheers

Kat "

--