Daugher diagnosed with Static encepalopathy

[ncmom3]

My daughter is 6 months old. She was DX 11-22-06 with Infantile spasms, her 1st EEG was grossly abnormal. they preformed an MRI and it did not show any abnormalities with the struture of her brain. We began ACTH and Topamax also Vitamin B6. She also had a 6 hr VEEG and the results were unchanged.We were sent for a 2nd opinion to UNC Chapel Hill and they prrformed a 24 hr VEEG & another MRI. The VEEG was still abnormal and the DR said she only had 2 sz's during this but the rest of the time her brain was shooting off high voltage of electricity that looked like her brain was "wanting" to have a SZ. They think it begins on the right side of her brain. She also has myclonic spasms/jerks. She constantly jerks (more her arms shoulders) and her eyes will roll upwards. We are slowly dosing down off the ACTH. She is on .02 now. and on 3 15mg topamax twice daily.
They DX her with static encepalopathy, what is this??
The info they gave us is very vague.
She does not see, or we at least think she does not see. She is also developtmentaly behind. she does not roll over, babble or do anything of a 6 month old.
We are going to begin PT and OT after the start of the year.
We just want to know what is a child with this DX prognosis?? SHould we see a special dr?? Is there anything special we should do??
They also drew a TON of blood work @ UNC looking for genetic/metabolic disorders.

thank you so much for answering my question!

Lisa

[CCF-Neuro-M.D.-SH]

First of all, keep in mind that I am unable to diagnose you because I am unable to examine you, this forum is for educational purposes.
   I am sorry to hear about your daughters condition.  A static encephalopathy basically means permanent brain damage- but the term itself does not speicify the cause.  The symptoms and story that you relate of developmental delay, infantile spasms and myoclonic jerks and abnormal EEG(hypsarrthymia), is consisent with West syndrome.  West syndrome can have symptomatic causes such as tuberous sclerosis, disorders of metabolism, disorders of development, genetic disorders etc, and sometimes West syndrome occurs for unknown reasons (thought to be related to a dysfunction in neurotransmitter function).  Sadly 5 out every 100 children with West syndrome do not make it past 5 years old.  Those children that do are often severely mentally impaired and many develop Lennox-Gastaut syndrome (a severe and progressive epilepsy condition).  The reason for the ton of lab tests for genetic and metabolic disorders is to try an find a reason why you child developed this syndrome, and to counsel you on the risk (if any) that future children may develop the same condition.  I would recommend that you see a special doctor, a pedaitric neuro-metabolic/neuro-genetics specialist who can interpret the studies that were ordered thus far and recommend further tests as needed to find a diagnosis.  It is hard to determine the exact prognosis at this point until a diagnosis is made, and it is unfortunately, often a long road.  I wish you the best.

[alchris]

though I dont know what ou are talking about I hope you go for seven hundred opions if thats what it takes to get your daughter taken care of.  I just wanted to respond and wish you well.

[Fionajnz]

Hi,

One of my friends in Australia just went through this with her son, she noticed stuff with him at a similar age and it took a good 8 mths to finally get a dx of epilepsy - sorry I cannot recall the specific dx type.  At just over 2yo he is still lagging a bit developmentally ( very late walking etc) but he has responded really well to OT and PT.  I guess my point is, he was also very behind and has come a long way in a relatively short period of time all things considered.

For them its been a long journey and challenging in that she has other children and he was a high needs child, both in terms of his general personality and his epilepsy. Also as he grew and gained weight or was sick, his epilepsy would spiral again until his meds were adjusted to correct weight vs dosage.  What she found useful was  doing a daily diary of what she observed with him and it made it easier to look back on and report accurately to the medical staff caring for him.  Its I guess easier on your memory which can be compromised with parental sleep deprivation - I know this too well, I am a Mom of 3 and our youngest at 1yo is just starting to sleep through.    

She found good support online with message boards, also the therapists helped her and some others form a support group/therapy play group, which has been helpful.

I am not sure what the implications of your daughters dx are long term but I would say that its important to take it day to day and not have specific by the book expectations of her, nor compare her with friends kiddos, she is an individual and we all progress at our own pace, however children this young really benefit from OT and PT intervention early and over the long term (think through age 4-7 depending on progress and needs).  I am an Occupational therapist but not a peds specialist, however I have seen amazing things achieved by children and their families over the medium to long term, you just need to get a grip on the dx, understand that this is not anything that anyone did and then move forward, armed with as much information and support you can muster.

Hang in there, I hope you get some more specific info and I wish you all really well with the therapy.  BTW, most states here fund some sort of early intervention therapy for kids age thu 3y.  Its definitely worth checking out to see if you can qualify.

Fiona

[ncmom3]

Thank you so much for all the responses
I am really wanting to know if we should get a 2nd opinion???

[vega1318]

Yes.  Absolutely.  Better get 3 opinions that are the same than 1 and miss something.  Go to a specialized epilepsy center if you haven't already.   Research doctors who specialize in Infantile spasms and hwat has been done so far and seek them out.  Don't give up until all options are tested.  Enroll in some research studies which may provide you with experimental medications -- sometimes those can be helpful before they come out to the market.

Much luck to you.

[mompuzzled]

Hey. My daughter also has static encephalopathy.In short, from what I've learned,is a fancy way of saying there is something wrong in the brain,which in her case,they've never been able to tell me excatly 'what' the problem is,'why' she is the way she is.Her MRIs have been normal.She,however,has never suffered from seizures.I want to offer you some words of encouragement by telling you a little about my daughter.She,too,by 6 months,wasn't doing any of the 'normal' things a 6 month old should do.To make a very long journey short,I took her to a place called The Developmental Evaluation Center at around age 18 mons.She began receiving Early Intervention by age 2.This included speech theray.By age 3 she was in preschool where she continued with speech,and by age 5 was also receiving OT.I also live in NC and can tell you that all these services are available to you,some free of charge when done before age 3.She is 17 today,and is still not accadimically up to par in comparrison to her peers,however,I could not ask for a more kind hearted,loving,considerate teenager!She has come so far.So much farther than her Dr. or teacher,therapists, even my family memebers ever thought she could.I know this is such a hard time for you and your family right now,but with early intervention,I believe she too will go far.Get as many opinions as you can.Chapel Hill is a good hospital,but you may want to check into Baptist in Winston Salem too.Seek out and evaluation center in your area. Your pediatrician should be able to help you with that.I'm a huge believer in PT and OT,and the earlier the better,and speech therapy when the time comes.I will keep you all in my prayers.As someone once told me,'God gives special children to special people'.You will be in my thoghts,and if I can help you with resources in NC,let me know.I'd be glad to do what I can.

[ncmom3]

thank you so much for ALL the responses!!

We just had another VEEG 6hrs and now the neuro has said she has progressive myclonic epilepsy, we are on toppamax and Zonegran and Vit B6. Do we need a PET scan to look inside the brain??
the EEG showed better organization but more SZ activity. She has now began having screaming sz's that will be in a cluster for 5-10 min one lasting 45 min.

thanks for the help!!

Lisa

[ncmom3]

A related discussion, 2yr old with intractable sz's was started.