Hi everyone!

This may not be a typical thread because I am not the one who is the parent of a child with an undiagnosed issue but I'm hoping maybe someone here can help.

My nephew, who will be 4 in June, has always seemed to have a "problem". Let me try to give a brief history - at the age of 6 weeks, his ped sent him for an MRI because he was restless. He could not sleep, his legs and arms were constantly moving and he just seemed hyper; however, the MRI came back normal. As he got older, things just didn't seem quite right - at his daycare, he never really formed too many attachments to teachers nor did any transitions bother him. He did not walk until he was close to 18 months and has always had delayed speech. At his 2 year checkup, his ped sent him for therapy because he wasn't able to do certain things like talk, attempt to turn off and on light switches, couldn't jump, etc. He has been in occupationalal, physical and speech therapy ever since.

Then, around the age of 2 1/2 he began having seizures. Test after test after test came back saying things were normal except for two - one was his EEG which showed cyclonic activity in his right temporal lobe and the other was that the MRI showed that his corpus collosum is quite enlarged. Anyhow, he still can't feed himself with a fork and spoon, still can't ride a bike, and his hands seem to always look like they are in the curled up position they are in when he's actually having a seizure. He doesn't play with other children nor does he seem to care to play with them. He's not really into playing with any toys other than puzzles - he is amazingly good at putting them together, even very advanced ones.

The seizures have gotten more frequent and my brother is straining every ounce of his energy trying to get help. He has been to the director of the neurology department at Children's in DC and is on a waiting list for a neurologist at John's Hopkins. My nephews seizures are getting more frequent and strangely, ALWAYS happen on a Saturday morning around 9am. He's looked into everything from Asperger's Syndrome to diet induced epilepsy to some disease with the name "Angel" in it. Because my nephew also has blonde hair and blue eyes (whereas his parents are both dark haired with brown eyes), I guess he's found that that coloring can be symptomatic of some epileptic diseases.

Thanks for reading this. And if you have any thoughts or know of any resources, I'd greatly appreciate it.

Jenn

I can't say a great deal here, but I do wish you would post this on a Child Neurology Board. You would get a lot more traffic and many more parents who may have either experienced this or heard of it. I definitely think the appointment at Hopkins should be kept without a doubt! I am sorry this child and his family are having to go through this, but I also hope they can find a cause.n It doesn't sound like just Epilepsy to me in that there are several things going on at once and seizures just may be a part of the actual condition.. There was a child who had some very unusual symptoms including seizuresm,, whose mother used to post on another board. She didn't have many of theseothes you have here, but the combination turned out to be something I had never heard of. She was taken to Hopkins too I think. I wishi could be of more help, but do see if you can ind a child Neurology Board an post there too. Phoebe

I am new here as well and this is my first post. I am interested in what you mentioned about hair coloring. My son Jake has blonde hair, blue eyes, and fair skin. My other 2 children are much darker complected and have dark, greenish brown eyes. I have never heard of this having anything to do with epilepsy. Can you tell me how this could be significant? I did look on the internet and came up with something called "Angelman Syndrome" :nono: . This sounds a lot like your nephew. Please let me know what they figure out.

Good Luck, and God Bless!
Wendy

Hi Wendy! Thanks for your post :)

My brother has indeed wondered if his son has Angelman's Syndrome so it's quite interesting that you've brought that up. I'm not certain about the significance behind the coloring of the child's hair/skin/eyes; however, I do know that several genetic conditions tend to "cause" a person to have these certain characteristics.

At this point, we are all just hunting and posting and searching for information. I've been searching for a child neurology board but I'm having a hard time finding one that is active. Hopefully though we'll be able to find something out.

Wendy, does your son have epilepsy?

Yes, He has had 5, what they told us were "tonic-clonic" siezures starting April the 4th of this year. We think he has had several more before that durring the night or just when he wakes up. According to his EEG, He also has "Absence" Seizures. The Doctor said probably about 30 a day. I don't know how they know this, but we think this may have been going on since Kindergarten. We had to do a lot of research on our own and really push for our pediatrician to even get an EEG or a referral to a Neurologist. I have learned more from reading these boards than I have from any Doctor so far. Thanks everyone for all of your information. You don't know me, but I feel like I know some of you.

Wendy