Corpus Callosum, Epilepsy, Microcephaly and CVI

Laura - posted on 10/10/2011

Hi Jaime,

Yes, Meredith still has seizures, but much less frequently than before. On average, she has about one a week I would say. She may go 3 weeks without one and then she may have one week where she has 3 or 4. It comes and goes, but are almost always triggered by illness - any little thing like a cold, tiny fever, and then of course the bigger stuff like ear infections, etc. She got ear tubes last winter and that cut down on the seizures a lot. She's on a combo of Lamictal and Dilantin. The Dilantin she was put on temporarily (they don't like to use it as a log term med) but it works so well for her so she's staying on it for the time being. Good luck with the blood draw and keep us posted!

Laura

Jaime - posted on 10/10/2011

Nothing is EVER easy with us! Jack is 18 months old and we are still trying to figure everything out. We have 5 month old as well - so we are BUSY! It is interesting how we have to think about everything that we are going to do and come up with a plan to make it work. How do we go grocery shopping with Jack? We have a double stroller, but he slumps over in it. I feel bad that he is just laying there, so I feel guilty shopping with him. We are in the process of ordering a seating system for him. But then how do we travel with two little ones?! By the time the seating system comes in hopefully my little girl will be able to sit up by herself in the cart. Then I will have to push a cart and Jacks seating system! So complicated! Nothing is easy! I can't stay in the house all day though - or only go to Dr. appts or therapy - which is every day. I need to go other places and try to have a somewhat "normal" life.
As for the genetic testing: Jack has had the microarray and everything came back normal. He then had a "super panel" which tested CDKL5 and MECP2, which came back normal. We met with his geneticist last week and I mentioned the FOXG1 and he said that this was the next best test to order. He didn't order any other test. We went to have Jacks blood drawn - with no success. He has the worst veins. He is poked all of the time. Poor guy. We will try again some day this week - when we can fit it into our schedule!
We are obsessed with our video monitor too - but not for fun. Is Meredith still having seizures? What type? What type of meds? Jack was eating perfectly until we added the nasty tasting meds. Now he doesn't trust us. That is a work in progress with OT. Is is always something :)
Thanks to both of you for writing me back. I am not sure what Jack's results will be, but it is nice to find some similar families out there. :)

Laura - posted on 10/10/2011

Hi Jaime, I have a 3 year old daughter who has a FOXG1 mutation as well. She has partial agnesis of the corpus callosum, seizure disorder, microcephaly and CVI. She eats really well but cannot feed herself. She has extremely low muscle tone, can't sit unassisted or crawl but can roll from her back to her belly (though we don't see that too often). Sleep has been a bit of a rocky road for us as well, but knock on wood - the last 5 nights in a row Meredith has slept beautifully with some help from our friend Melatonin. Could be a coincidence, but Im going to keep it up for a while and see what happens. As far as genetic testing goes, you really need to go in and cherry pick which genes you want to test to get an accurate read. The microarray test can't test for everything,b ut just gives a general picture of the genes. Meredith had the mircoarray test done which came back normal. She also had the MECP2 (Tyical Rett) and Angelman's genetic test done which also came back normal. In fact, we had pretty much resolved ourselves to thinking we most likely would not get a diagnosis. Then this summer we tested for Variant Rett - CDLK5 and FOXG1 where an answer finally turned up.
CVI can be tough to diagnose. Meredith ended up with that diagnosis when her vision therapist came with us to an opthamologist appt. and together they felt the diagnosis was appropriate - though they aren't 100% sure since developmentally, its tough to get a read on what Meredith is actually seeing. But the diasnosis ensures Meredith gets vision therapy at school so thats good. And she does seem to fit the profile. I hear you with the 6th sense thing... we laughed yesterday when we went to a friends house for lunch. They said they were addicted to their video monitor. We agreed : ) Then the mom went on to say how she just thinks its so much fun to watch her little boy in his crib and see what he does when they aren't around. I realized that using a monitor for this purpose never even occurred to me! We use it for seizure patrol, lol! Never for fun : ) That's the one thing I long for sometimes is the simplicity of things. Everything in my life now has this very serious undertone. Never just easy-peasy, ya know?

Heather - posted on 10/04/2011

let me tell you, the gtube was the best thing we ever did, esp when it came to meds. no more crying or spitting out. Glad you found a pharmacy to compound the meds!

I miss easy. Doesn't exist anymore. :( Luckily, Medicaid pays for 35 hrs/wk of aides to help us out! :)

Anna adores Jacob. At first Jacob would respond to her noises only but had no concept of her as a baby and a person. As she began to move around and interact with him, maybe 6 mths- they would sit together- he began to realize that she was fun to play with. It's a balancing act, to make sure that she doesn't feel left out by us spending extra time with him and dr appts. The aides help in that respect with his care so there's a better balance there. On the plus side, there's no sibling rivalry at all. I keep waiting for her to figure out that he's "different" but I don't think that she will. He's just her brother and that's life. She asks me every now and them why he can't do something and I explain he's still learning.

As for the vision therapy. I would ask your pedi for a referral to a pedi ophthalmologist, get an exam if you haven't already and talk about a Teacher for the Visually Impaired. Also, your state should have some kind of resources too.

Jaime - posted on 10/04/2011

Thanks Tamra and Heather for your information. We go to the geneticist on thursday, so I will see what he says then.

Tamra, how old is your son? How is he doing?

Heather, I tried looking you up on facebook and their are several under your name. I wasn't sure which one to choose! You can friend me - Jaime Superfisky Johnson - thanks!

Our "sixth sense" is very exhausting! I am ALWAYS watching Jack and trying to figure him out and help him. It never ends.

Jack started refusing his meds when we added Topomax, which was a sprinkle capsule. We started adding this to his solids, which changed the taste of them, and then he refused eating anything by spoon. We struggled with his bottle too. He was on 3 anti convulsants at once, which was a total of 15mls of drugs. We were adding this to his bottle, and then he refused that. We are now going to a compounding pharmacy which is making his drugs into a few mls and making them taste less bitter. Jack will now take his bottle again. We are working with OT to try and introduce solids again. This has not been easy! Jack doesn't trust us anymore with the spoon. :(

Heather, how is your daughter with Jacob? Our daughter is only 4 months old, but she seems to look at Jack and wonder why he is not interacting with her. Jack does not even seem to realize she is around. He does hear her squeal and he squeals back, but that is it. I am trying to figure out how to raise the 2 of them together :)

How do you go about getting VI help? We are involved with a birth to 3 program right now that doesn't seem to be providing vision help. They said Jack qualifies for 3 visits a year!

His OT specializes in vision and is trying to give us exercise to do, but does not know anything about CVI.

Tamra - posted on 10/04/2011

jaime...get him tested for the foxg1 rett syndrome...he sounds like my son and heather which boys boths with this...this is a new diagnosis and not a whole lot about it...my son is missing part of his cc as well...i am finding out with all the research i have done on this that alot of the kids that have been undiagnosed are being tested for this and its coming back positive...it was discovered in 2008 so not many drs are familiar with it

Heather - posted on 10/03/2011

Hi again. Seizures- Jacob's are anywhere from 10 min to 1 1/2 hrs. We never know if the Diastat will work or not. He started with grand mal, but now they're different- he usually has them exactly 20-25mins after he falls asleep. he starts them by vomiting- caused by the muscle contractions, then goes limp with some rhythmic jaw clicking and finger twitching and his eyes vibrate. I can honestly say that you learn how to deal with them. I'm not sure how to describe it. There's a rhythm to them, duration, symptoms, recovery that you just come to expect. That feeling you talk about- I call it a sixth sense that just kind of sits under your skin, a hyperawareness of sorts that is always there even when you're sleeping. It's so much more heightened than other parents. Kind of exhausting at times though!

Why did Jack refuse his meds/bottle? Did you ever figure it out?

CVRS is on the FOXG1 gene, take a look at this, not lot of info, but talks about the actual testing. :

http://www.ggc.org/diagnostic/tests-cost...


For CVI, look at this
http://arlene-miles.suite101.com/how-cor...

There is a scale of degree for CVI. Jacob started like Jack, but has progressed about 1/2way up the scale in 5 years, so there is hope! Have you talked to a Teacher of the Visually impaired?

I'm on Facebook if you're on and would like to friend request me.

Jaime - posted on 10/02/2011

Jack has complex partial seizures as well. You state that Jocob also has gran mal? Jacks usually last about a minute and are very mild - but I heard this could change. I am fearful of the day that this may happen. We have been in and out of the hospital as well. We went through several months where Jack refused his meds or his bottle. He was having several seizures a day and was dehydrated. As for testing for CVRS, what gene did they test? I am sure my geneticist will know, but I am just curious to look at Jacks med files and see if we already tested for this. Our last genetic test was called a Super Panel - it tested several x-linked genes. This came back normal. I have heard of the weighted blankets. I need to get one for Jack. What about Jacobs vision? We know Jack sees light, but he won't track anything. I swear he is looking sometimes, but his ophthalmologist does not think so. He thinks due to his CC that he does not not receive the signals to process vision. Thanks so much for your answers and time. I know you are very busy with your little man. We are all in this together :) I was reading a few of your older posts to other parents and we too have a video monitor so we can always see what Jack is doing. Anytime he is playing and gets quiet I have to run over to him. I always get a "feeling" when he is about to have a seizure.

Heather - posted on 10/02/2011

HI! wow, where to start... the test for CVRS was only avail in 2009 since they just discovered the gene mutation. be careful when you ask for the testing, Congenital Variant Retts Syndrome is on the Angelman Syndrome Spectrum, but there is also a Retts Syndrome, which is on the Autism Spectrum. The phrasing is important. Your sleeping issues sound exactly like my Jacob, right down to the pinning down. I eventually made him a weighted blanket to help with the startling while sleeping. helped a lot. He finally slept through the night when he was around 5. He can now sit up, no crawling or rolling. he can take steps but only when he's supported, no balance. He can walk in his gait trainer. Jacob has partial complex seizures. they're very well controlled on Keppra and Topamax. Although it's been a rough summer, major seizures every 2 weeks. sometimes the Diastat works, if it doesn't it's 911 and to the er where he has to be sedated to stop them. fun times. We considered the Ketogenic diet, but Jacob is g tube fed and we'd have to stop all oral feeding.Then there's the vomiting due to severe reflux so we'd have no way of knowing if he was in the right zone.... oh well. For seating, right now he has a Zippie Iris wheelchair which we love. He also has a manatee bath chair on s rolling base. Where to you live? We're in Mass. I'm not familiar with that therapy, I'll google it. We also have a 3 yr old daughter with no issues. I think that's all your questions.... feel free to ask more!

Jaime - posted on 10/02/2011

Heather, thanks for responding. Yes, dysgenesis is also a thing CC. I am new at this: why did it take 7 years to find a diagnosis for your son? We are still searching. We are told that we have to keep waiting until new tests come available. Has your son been tested for 7 years? How did they finally come up with Retts Syndrome? I know my son was tested for Angelman Syndrome several months ago. I don't think they specifically tested for Retts. We go see his geneticist on thursday, so I will inquire about it. My son does wake up from a sound sleep with a screaching scream and then cries. Sometimes we can calm him down right away and sometimes he will cry for an hour. His sleep is very irregular as well. He is usually up during the night for at least an hour at some point. If we end up putting him in bed with us and notice his arms start to move around we can hold them down and he will continue to sleep. If we are not around and he starts to move his body while sleeping, then he usually startles and wakes up. Does your son sit up or roll? Crawl? Walk? Jack can roll over in one direction. He can sit for about a minute before falling over. How is your sons vision? Has it improved? How are his seizures? We have had Jack on 4 different meds. He is now on the ketogenic diet and has been seizure free for 13 weeks! We finally weaned him from phenobarb last week - that had sedated him for 15 months of his life :( He is currently on Topomax and Banzel. Do you have a seating system for your son? We are in the process of ordering one, along with a stander and a bath chair. Have you tried Feldenkrais therapy? We are looking into that now. Our children do sound similar. I am curious about further genetic testing. Do you have any other children? We have a 4 month old daughter and she seems to be healthy. Thanks for the info :)

Heather - posted on 10/01/2011

my son has all those things, but has a thin CC, not sure if that's the same thing. He was just diagnosed with Congenital Variant Retts Syndrome. It's in the Angelman Syndrome family. He's 7.5 yrs old, and he's functioning at about a 1 yr old level. He has pt ot, speech, vision, feeding therapy, horse therapy, anything we can find. the first year was miserable- inconsolable crying. He also had major sleeping issues for the first few years, and still pops up occasionally.