Brain Surgery @ 6 Months TUBEROUS SCLEROSIS

I am sure some of you out there have had to deal with hard situations when it comes to your children.  Its the worst thing to happen to a parent, seeing their child in pain, unable to do anything for them.  I unfortunately had to deal first hand with just a situation.

From about 2 weeks of age I could tell there was something not quite "right" about my son.  He would get these periods where he would stare off into space with a big smile on his face.  You could not get his attention or distract him out of this "trance".  I approached his doctor about the "thing" I was seeing him have [in the back of my mind I knew it was a seizure, but as a mom did not want to say it out loud yet]...The doctor attributed it to gas pains but said to keep an eye on it and if the occurrence happened any worse or different then to contact the office immediately.  He would have these periods off and on but always the same. 

At about 4 months of age I was sitting in the bathtub with my son next to me in a bouncer I noticed he was going into another one of his episodes this time is right arm had developed a "tic".  The whole episode lasted about 30 seconds but that was enough, I was on the phone with the doctors answering service getting an appointment for the next day.

Now this is where I get angry, due to insurance parameters I was sent to LIJ to a Doctor that spent 5 seconds with him before she was called upstairs, that was the last I "saw" of her.  They did a EEG on him trying to induce a seizure but nothing worked he fell asleep and after the test was done I received a phone call from "upstairs" from the "Doc", she said she reviewed the scan and there was nothing showing up what-so-ever that there was no seizure activity and that since they could not reproduce an episode like I was describing it was probably just gas. 

1 Month later my world crashed down.  Sitting at my older sons Gymnastic class my youngest had the worst seizure he has ever had.  The entire right side of his face, mouth/tongue & arm started "ticking" he just looked up at me with a "mommy help me I cant stop" look and that was it.  I called my parents to come look after my older son [My husband had just got out of the military 3 days prior and had picked up a temp job] I went straight to the hospital, while on the phone with LIJ trying to get in touch with the doctor I had seen. 

Upon arrival at the hospital he was rushed into a CT scan where on the monitor I saw an area that did not look quite right.  I WAS RIGHT!!!  The one time in my life where being right was not what I wanted.  The doctors/nurses/residents were unsure of what it was but were assuming it was a cavernoma and that there were two [WHAT DID THEY SAY TWO ?!?] He was given an overnight EEG where we were told that there is NO WAY, I REPEAT NO WAY that the EEG he was given the 1 month prior [with "Doc"] showed no residual signs of seizure activity. Boy was I angry

Within a few days tests were done and the OR was booked and my son [NOW 6 months old] was going in for BRAIN SURGERY.  As we sat waiting for him to come out we talked lightly about things trying to not think about what  "E" was going through.  Then the doctor [A GREAT MAN/SURGEON]  came out  and I immediately turned to my mother and said somethings wrong.  Its not what they "thought" it was.  He came over and explained that it was one of two things, and that they removed as much of it as they could see [I WAS RIGHT AGAIN :( WHY NOW]...

One of these things could be Tuberous Sclerosis [ multi-system genetic disorder that causes benign tumours to grow in the BRAIN and on other vital organs such as the HEART, KIDNEYS, EYES, LUNGS, and SKIN] and to make matters worse that was the one he thought it was.  After a biopsy was preformed our fears were validated, it was tuberous sclerosis.  This disease has been known to cause any combination of seizures, , behavioural problems, developmental delays, skin abnormalities, lung and kidney diseases.  And it gets worse before 20 yrs ago or so any diagnosis's of this disease were the SEVERE cases and anything minor was chalked up to being epilepsy.  The technology need to diagnose this disease had not been invented before that point.  Any and all research on the disease was those severe cases and the cases from 20yrs ago --> present that were finally able to be diagnosed as something other then epilepsy.  There is no blue print for this disease.  In fact most people that I talk to ask me three or four times to repeat the name because they have never heard of it before.

The last I heard from "Doc" from LIJ we were on our way home from the hospital my cell phone rang.  I pick up and there on the other end of the line is Doc, asking me if I ever was given the results of the EEG that "E" was given 1 Month prior I said "YES, you told me yourself" and I was about to continue with you were wrong when she cuts me off to tell me that she had reviewed it and there were no signs of seizure activity was wasn't I happy to know that.  I COULD NOT BELIEVE I KEPT MY COOL...All I said was thank you and she was wrong and what "E" was diagnosed with and excused myself from the conversation. 

NOW THE GOOD NEWS, My son has been seizure free for over a year and has been successfully weened from his Phenobarbitol after a prolonged EEG showed no signs of seizure activity at all [obv. not done by LIJ].  He is thriving and his last MRI showed nothing of that first Tuber, it was completely removed.  The other one in his brain has showed no signs of growing or affecting him and he had a EKG which showed none in his heart [If you are not born with them there you don't develop them]. 

My advice to everyone out there is never ignore the little voice in the back of your head, you just may be telling yourself the truth.  Get the answers you need and don't let anyone tell you, that you are not seeing/feeling/knowing what you think you are.  My son has an amazing sense of humor and is full of life.  In everything but his "labeled" disease he is a normal 2 yr old...