RE: - Infantile seizures, & I need to vent!

February 4, 2004

Dear Carole

I am also sending this to your home email address as I really want you to

see it. Please call me - there are so many points in your mail I want to

talk about I hardly know where to start!

What hospitals have you been to and who were the neurologists?

You also sound as if you all need some extra support at home and I found

that our community nurses here were great and often acted as a go between

for us to the doctors when we either wanted something done a little quicker

or were incapable of talking to the doctors for fear of losing our tempers

(mind you that approach has also helped quite a few times in the past).

What meds is he on?

The only way to positively diagnose Infantile Spasms is by EEG as there is a

particular pattern called hypsrythmia (may not be exact spelling, but near

as damn it).

PMG is NOT a life threatening condition in itself - however, some children

may be more suseptible to other conditions like pneumonia thro' aspiration

due to feeding difficulties etc etc

was fondly referred to " our little vegetable " in this house for a good

few months and I will admit that there were times when I did not know

whether to pray for him to live or die. Since then his seizures have come

under control and he is an absolute joy - he laughs he smiles he plays

enjoys music television, his brothers he reaches out he rolls over he sits

up - he is not and in reality will probably never be typical but he is

wonderful - and is getting stronger and more fun every day.

Do not give up - keep nagging - ask your paediatrician for an appointment

with a neurologist or even for a consultation at Ormond Street - they CAN

do this for you - they just choose not to. There are specialists in this

field and they should be speaking to them. From what I have gathered Dr

Pilz is more of a specialist in the diagnosis and genetic side of PMG and

not so much in the treatment/seizure management.

In so far as what can you expect of a PMG child this site has many stories,

some good, some bad but absolutely none the same!

I've wittered on but your mail made me absolutely furious and made me

realise how lucky we have been just over the border in Surrey.

Love to all

Tel:01784 250655

- Infantile seizures, & I need to vent!

Hello again ,

You certainly don;t have to worry about scare-mongering with me, I

feel exactly the same way......I prefer the honest approach,

information is power etc. and let's tell it how it is. So whatever

you feel you need to say is more than fine with me. I hope everything

is well with you and and the rest of the family xxxxxx

To be honest I'm totally naffed off today. This has to be one of the

worst days I've been through mostly because I'm getting this sinking

feeling we've been sidelined somehow. That the 'system' (other than

our GP) is saying....... has PMG, and that's the end of it, so

what can you expect for a baby with an abnormality of the brain, who

has seizures as a complication?

We have had so little support compared to how I expected it to be.

I've had no choice but to get on the net and do my own research...no-

one else is telling us much at all and I'm desperate for more info

and answers.

Over the weekend deteriorated slowly, and this deterioration

escalated on Monday. Terri was shattered, and crying. I hate to see

her like that, but God, it's understandable.

By late morning he started having regular seizures, every half hour,

( & not like him at all) He was very chesty, coughing a lot, sneezing

etc. and not at all interested in feeding, so we both thought he must

be unwell, just the way you'd think about any baby that age. He'd

slept for hours, hadn't had a feed since 4am, but each time we

attempted to feed him, he had a seizure. If we moved him, he had one,

lying quietly on his own, he had one.

We phoned the hospital for an appointment to see his paediatrician

that afternoon, but couldn't get one because he was off until

Thursday, and his secretary didn't offer us an appointment with

anyone else, so we phoned our GP and saw her. Personally, I've more

faith in her than I have in him, because she's been my GP for

over 20 years and she's usually spot on. The Paed's been very kind

and sympathetic, but he's admitted he's never had any experience of

PMG, didn't know what it was and gave us the " severe brain damage or

death outlook " . Plus, with the seizures he consulted a neurologist

every step of the way, which is fine, but it means he never made any

decisions of his own. Is that because he's not experienced enough?

When was transferred to another hospital for his MRI, the

neurologist who was assigned to him diagnosed PMG, but didn't tell

them anything about the condition or what problems they might

encounter in addition to the epilepsy.

My son stayed there 24/7, because after leaving there the

first night he noticed the next morning that no-one had fed him for

12 hours! (and he was being tube fed, so what was the

hassle?????). He had no faith in them at all, especially after

one nurse told him he could administer 's medication himself

when he thought he'd need it! Save her a job I guess.

We've never seen the neurologist since, had no contact with him, no

future appointments to see him. The genetics people did tests too.

The results were due back before Xmas, and we're STILL waiting, even

though we've tried to chase them up more than once.

When was finally discharged I was totally amazed that they

were told it was up to them to determine when he needed more.

They had guidelines to go by, and the Paed. has made himself

available whenever they need him, but it's not good enough.

A prime xample of things not done properly is when Terri had to

arrange her repeat prescription. Our GP's surgery hadn't received

anything from the hospital about him, they didn't know he existed, so

they had no medication in stock for her and it took 5 days to order

it in!

So, with the trials and tribulations we've had with hospitals, even

though we feel he did get excellent nursing care in the neo-natal

unit, I prefer our GP because her approach is positive. She's told us

to never listen to anyone who says he won't amount to anything as she

has had another patient with another rare brain abnormality than his,

with infantile spasms, who has now made remarkable progress against

all the odds.....so improvement is possible.

To go back to our visit to her that day. Apart from the chestiness

etc. we'd noticed he had diahorrea too, so she examined him and

concluded he had the same virus we'd all had over the past week or

so, but had hit him harder. I wasn't suprised to hear that. After

Josha had a seizure in front of her, and she said he was having

infantile spasms, she also said that these seizures could be a result

of the virus interferring with his medication We had the choice

of either increasing the medication for 24 hours and see if there was

any improvement, and if not he'd be admitted, or she could admit him

to hospital then and there, for a day or so, for observation. We

opted for the latter, which she fully agreed with, and she made the

necessary arrangements. She put everything in a letter (including

that he was having infantile spasms) and asked them to assess him.

When Terri and Derrick got to the hospital, the doc there examined

him, upped the medication, advised them to tube feed him for a few

days and sent them all home. No obs then, just more drugs.

So today, things haven't improved. They see the Paed. on Thursday and

I wish to God I was going, but I won't be. There's so many things I

want to say and ask him. I want to know if he is having infantile

spasms, because, as you say, they are the worst. I'd really like them

to admit him, observe him, do another EEG, make a firm diagnosis and

treat him accordingly.....and I've read that ACTH should be the first

line approach. Even if he's not having them, something is changing,

he's definitely further back than he was 2 weeks ago. I'm not happy

with him being on three meds at a time either, but that's the way it

is. I'm reading all I can about his meds and the effects they have,

the way they act and react with each other when used together, and I

keep reading that carbomazepine can reduce the effects of the sodium

valproate, which is the one med we noticed had an almost immediate

beneficial effect.

At one point, a few weeks ago, they withdrew his clonazepam, just

like that, and he just suffered from continual fits over the next

couple of days. Now I read that you should NEVER just withdraw a

med, that it should be done slowly. Now this is what we thought the

plan would be after that episode. He was put back on the clonazepam,

which worked, but tended to make him very drowsy. The plan was to

gradually reduce it over the next two months (that was from mid

December). Well, lo and behold, here we are, a few weeks later and

the opposite is true. When his meds are increased it's usually all

them that go up.

Sorry, I'm really getting this off my chest now, I just want the best

for him, and I'm getting mad now. I know he needs to see someone who

knows what they are talking about, because I know these seizures will

continue to have a bad effect on his long term development and

they're my prime concern.

Finally, our GP said she was more than happy to refer to Dr.

Pilz, but we have to go through the Paed. because of the new funding

guidelines....however, she also said if we dont; get any joy she'll

look into it for us and do everything she can to get us a referral.

Goodness, this a long mail, but sorry folks, I needed to vent! Thanks

for your advice, and to anyone who has valiantly read

the whole of this post.

Bedtime I think.....nite all, God bless

Carole xxxxxx

> > ,

> > Have just read your Email regarding and was surprised to

find

> out he

> > has Unilateral PMG which appears much rarer than Bilateral.

> > Our is coming upto 5 years old in March and he has

> unilateral PMG of

> > the left hemisphere in the frontoparietal region. He has a

weakness

> of his

> > right side but although late in most developmental processes he

has

> > generally got there in the end. He walks now very well, rides

his

> bike (with

> > stabilisers), plays football with me in the garden, goes up and

> down stairs

> > with a little help. The main area of delay is his speech which I

> must say is

> > poor, however he understands absolutely everything we say to him

> and as we

> > are currently living in Italy, he understands in two languages.

He

> attends

> > the local school and joins in with all the lessons and

activities

> and loves

> > it.

> > Regarding the seizures, which for us were the hardest thing to

cope

> with,

> > has been almost seizure free for 2 years and this was

due

> to a

> > Professor we found in Great Ormond Street who specializes in PMG

> and the

> > related epilepsy. Professor Renzo Guerrini was our saviour and

> started

> > on a good combination of drugs that have proved to work

> well (he

> > does have a unique form of epilepsy called ESES during sleep).

Prof

> Guerrini

> > is now working in Pisa in Italy but if you would like more info

> then email

> > me back and I can give you his details.

> > Its very interesting to have found another child like

with

> similar

> > clinical conditions.

> > Best wishes

> > Tony, and

> > In the UK?

> > >

> > > Incidentally, I just wondered if any other members live in

the

> UK?

> > >

> > > Carole

> > >

> > > --------------------------------------------------------------

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> --------

> > --

> > > --

> > >

February 4, 2004

Carole,

My heart breaks for you and your family. You sound like your on the right track

though.

I've always heard that infantile spasms needed to be treated ASAP with ATCH.

Somebody needs to be yelling and stomping and DEMANDING a referrel to someone

that specializes in infantile spasms and SOON!

O.k, I'll calm down. I know how the doctors can just spin you around and around

in circles.

Sometimes, you have to get down right nasty with them to get someone to pay

attention.

Praying that will be feeling better soon.

Donna(mom to Trevor,8 yrs old PMG and BPNH, seizure disorder(partial

complex),Agenesis of the corpus callosum,panhypopititurism,Optic Nerve

Hypoplaisa and cortical visual impairment,hydrocheyelus and cyst on base of

brainstem(shunted 7/99), allergies and asthma, GI problems, autistic like

tendancies(PDD-NOS),cognitive delays.............whew!

In the UK?

> > >

> > > Incidentally, I just wondered if any other members live in

the

> UK?

> > >

> > > Carole

> > >

> > > --------------------------------------------------------------

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> --------

> > --

> > > --

> > >

February 4, 2004

,

I hope you don't mind me butting in but I noticed from your email to Carole

that you live in Surrey. I also live in Surrey (Cheam) and wondered where

exactly you are. My son is now 6 and has one diagnosis of Bilateral

Perisylvian Syndrome with Polymicrogyria and another of Pachygyria (two

different neurologists have looked at the scans).

regards

In the UK?

> > > >

> > > > Incidentally, I just wondered if any other members live in

> the

> > UK?

> > > >

> > > > Carole

> > > >

> > > > --------------------------------------------------------------

> ----

> > --------

> > > --

> > > > --

> > > >

February 4, 2004

Carole, I hope you don't mind me stepping in, but my son was

hospitalized in December for a prolonged seizure that put him into

respitory failure. At first they thought he had pneumonia, but then

realized he had some type of virus that the rest of the world had and he

was treated with an antibiotic for 5 days in the hospital, and he

bounced back quickly and better than he was when he went it. His

seizures aren't as frequent either. So I think that the information

they gave you about the seizure meds and the fever from the virus was

pretty much on the money. I would have him admitted and treated for the

virus.

Dianna