Information Needed

My son has Schinzel Giedion Syndrome. He has been having a new type of seizure that the EEG isn’t able to pick up. SO the neuro docs aren’t doing anything about it. I wanted to see if any other parents have had this same issue. Logan, my son, has these spells where he will stiffin and relax, his eyes will dievate to the left, and is unresponsive to pintching or talking to him. So because the docs weren’t able to see anything in his EEG, which was last week, their not convinced that this is actual seizure activity. When I KNOW IT IS!! I know what my “normal” childs activity is, and this is not normal for him, nor will I give up or believe that it’s not a seizure. He was given a steriod medication which helped stop these episodes, but gave him pnemotosis, so that med stopped, and now he’s having these episodes again. Please if anyone has any ideas I can take to his neuro docs that would help, please let me know. Thank you!

I feel like these docs think they know all, but really they don’t. never have any of them taken care of a child like mine. So why would any of them just fluff him off as normal? Their is nothing normal about Schinzel Giedion Syndrome! The lack of information, is the most frustrating thing to me!

And yes, my son has these on a daily basis, sometimes 3-4 times a day.

I forgot to add, these episodes will last anywhere between 5 minutes to an hour long.

Hi. My son had very similar seizures. His hands would also twitch and he would drool way more than normal. We had several EEG's and never caught them either. I kept insisting to his pediatrician and neurologist that he was having seizures. finally I started writing every incident down including dates times and duration. I also videoed several incidents. I researched alot of seizure meds and finally the neurologist put him on a low dose of zonegran. It stopped them. What you need to repeatedly remind the Dr is that no other kids are like ours. The way it might be for another is completely diffrent for SGS kids.

How old is your Logan? My little boys name was Jake. I hope this helps. Please feel free to contact me with any other questions. My email is

Logan is 19 months old. I’m so frustrated with the neuro docs. One day they told me he’s having spasm seizures, they saw it, but the EEG doesn’t show it. Yet they won’t help me further with this.

Do you have a genetic doctor? If so you might need to get them to contact the neurolgist to explain that almost all SGS kids have a seizure disorder. With SGS being so rare I had a notebook with all the articles about it. I took it with me to alot of Dr's visits especially if we were meeting for the first time.

Does he have these on a daily bases? Where do you live?

I just emailed the genitic doc today, because I know what I know and I don’t believe what I’m being told.

I live in MI. My son is followed by U of M docs. I feel like their a bunch of donkeys!

It is horribly frustrating. Makes you want to scream this is my kid I know when something isn't right! does he have a shunt? Jake did and it helped alot. Are you part of the facebook sgs group someone on there might be closer and know of someone you could contact. I live in NC and all Jake's Dr's where at baptist in Winston Salem.

He was 18 mths before I had a deffinate diagnoses. A genetic Dr at baptist suspected it when he was 6 mths but she had to do alot of research. i took him to a genetisist in lexington, KY to get the definate yes.

He doesn’t have a shunt, it’s “not needed”. I can’t stand this! I guess I’m just being a mom and wanting to help me baby but I can’t!

You are doing exactly what a mom is supposed to do. you are your child's best advocate. Is he being seen by a pediatric neurologist? I actually got so flustered once I told the dr I was staying in his exam room until something was figured out. because it does get upsetting when they act like they are so superior and know everything.

My son is being seen by every pediatcis specialist but yet he is being over looked.

People just don’t understand the way SGS behaves as it is so rare. My daughter had upwards of 100 of those seizures a day. They also refused to believe they were seizures as they do not show on an EEG. Stay strong and keep looking for the research to show the docs as they just don’t understand it. . Hope this helps.