a new diagnosis - Tuberous Sclerosis

I'm not really sure what to say about all of this and my head is spinning, I'm in shock and a bit confused because Jack screamed through most of our hour long visit with the doctor so it was hard to take in the information. He told us to email him with questions, so we're getting a list together, and we see him again in about 2 weeks.

Tuberous Sclerosis is a genetic disorder, you can read more about it if you click on the link. And this is another good article. I'm just going to hit the highlights of what I picked up from our appointment and leave it at that for the time being.

Jack will not grow out of the seizures. He will be dealing with them his whole life. He has some brain damage that is causing these.

There is a surgery option where they first do surgery to place EEG leads on the surface of his brain. Then he is hooked up to an EEG for a week so they can isolate exactly where the seizures are coming from. Currently the doctors suspects 2 places. Then they remove the damaged portion of the brain. It would be best if the surgery is done before the age of 2.

The current plan is to simply treat the seizures. The med he is on has reduced them so we're increasing it again and we'll add another one if we need to.

What we're seeing now are small partial seizures, the infantile spasms are gone, which means no ACTH, yay! And the doctor said had we not marked them on the EEG (every time we saw something we had to push a button) that he wouldn't have even seen them while just scrolling through. Jack even had one while we were in his office and he didn't really pick up on it but he totally believed me.

Epilepsy and seizures are only half of this genetic disorder, the other half is tumors. All tumors that come of this are benign but need removing so they don't cause other issues. People get tumors in the eyes, heart, brain, and kidneys.

Jack just had an MRI so we know his brain is clear of them. He went to the eye doctor recently so we know his eyes are clear. We have a scan of his kidneys tomorrow and I've got to set up an appointment with a cardiologist.

He will have to have these scans for the rest of his life. I think about yearly or if he's having any trouble.

The doctor said that a brain tumor is very likely at some point. Jack's heart is likely clear because usually those develop very early and get smaller as they grow so even if he does have one it most likely won't need surgery.

Those are the two medial things to deal with, seizures and tumors.

There is a research center in Dallas that specializes in this that we will likely be visiting at some point.

There is such a range of how this effects people. Some people don't know they have it until they are 30 and are living a totally normal life. Other people are mentally retarded because of it. Learning difficulties, autism, and a host of other things are all things that we could be dealing with down the road. For the time being, he remains a happy, funny, active little boy who's development is right on track.