Nicolas is a wonderful baby like his big brother, he nursed well, wasn't fussy at all, and seemed to be moving from one developmental task to the other as expected.
Then at 5 1/2 months things started to change.
I was nursing him one afternoon, and noticed his eyes had shifted halfway up, like he was trying to look at something straight above his head. He kept on nursing, but was fussing. I immediately thought how odd it was, and thought he must have a gas bubble, as he did get gassy quite frequently even though breastfed.
I sat him upright and patted him on his back and he burped right away. His eyes returned to normal and he stopped fussing and went back to nursing like nothing happened.
I took him to my sisters daycare the next day, and told her to watch him because he was having difficulty burping, and told he what he had done the day before.
He was fine all day, and when I picked him up from her, I nursed him and within twenty minutes he did the same thing with his eyes, and also lifted his hands straight out and up over his head.
I lifted him right up, and got a burp out of him, and it stopped immediately.
I remember having mixed feelings, thinking it was just gas hurting him, and at the same time, feeling something was not normal. Then on the third day, my sister called me at work in the afternoon, nearly in tears. She said he was doing it again, and even though she got a burp and it stopped, he was repeating it again, and he had done it four times at that point over a ten minute period.
At this point I thought seizure. I told her I was coming to get him right then, and I frantically called his pediatricians office. They instructed me to take him to the Emergency room as it was the end of the day and the office was closing.
I picked him up from my sisters and went directly to the ER, I told them I thought he was having seizures and they observed him for a while.
He had just eaten at my sisters before I picked him up , and he kept spitting up on the way to the ER and in the ER while they observed him.
I explained that until then, he had never been a spitty baby, but they said it was gastro reflux, and that the odd behavior I had described with his eyes and arms, was called Sandifer's syndrome, associated with reflux.
He had an episode while there at the ER, and the Dr. lifted him up to look at him and as he did, he burped and stopped the odd behavior.
Needless to say, they told me to keep him upright and make sure he burped well after eating and sent me on my way.
Each day that went by, he had more episodes. They always happened as he was waking up, or as he would start to drift into sleep while nursing.
by the seventh day I called his pediatrician again.
He was still spitting up frequently, not getting much sleep, and the episodes I observed were becoming more frequent. I just knew something wasn't right.
His regular Dr. was on vacation, so the doctor covering had me bring him in, and he prescribed Zantac, to help with the acid reflux. He also ordered a Milk Scan for the following week.
I took Nicolas home and for another week, watched him have these episodes, increasing to as many as 7-8 a day. He was exhausted, crying and fussing all the time, and he seemed really pale. What really concerned me was that by the second week, I noticed he no longer made eye contact at all, he wasn't smiling, babbling or holding his toys anymore. It was like as each day that went by, he was doing less & less,tuning out everyone and everything around him.
I called his pediatrician when he returned from vacation and took Nicolas in to see him. THANK GOD, his pediatrician believes in a Mother's instinct. He listened to all that I told him, and asked me if I would feel better if he had Nicolas admitted to the hospital for observation. I said YES.
Well, to make a long story short, he was admitted, observed and after doing an EEG on him, which showed hypsarrythmia ,he was diagnosed with Infantile Spasms/West Syndrome.
I am very thankful that I live in a state that has the best doctors and nurses..
They were very thorough and supportive.
We were given the option to start ACTH right then or to order Vigabatrin from a pharmacy in Canada. We opted for the Vigabatrin because the ACTH seemed to have too many side effects.
We had to wait three long days after Nicolas was discharged home for the medication to arrive.Those were the longest three days my life. My husband and I were very distraut,watching him seize, and feeling so helpless while waiting for the only thing that might possibly help him.
I had researched everything I could over those three days regarding Infantile spasms/West syndrome. Everything was gloomy regarding the outcome for these children. I REFUSED to believe that Nicolas was going to be retarded in his development. I was and will remain optimistic always.
He was prescribed Vigabatrin (Sabril) 250 mg 2xday which we got in sache form (powder),
from a pharmacy in Canada, as it's not available here in the United States.
His first dose was taken 18 days after the first onset of the seizures. He went from 7-8 clusters of seizures in a 24 hour period, down to 4 clusters within the first 24 hours on the med, then down to 2 clusters over the next 24hrs, then 1 cluster on the third day of taking the medication.
I am very pleased to say that from day 4, he has been seizure free.
The first few days on the medication he was very listless, like rubber almost.
but by the fourth day, he had better control of his head and extremities.
Within two weeks after starting the medication, he was smiling again, and as each day went by, he was regaining the same skills he had before the seizures started.
He is now a little over 9 months old.. He has four teeth!
He will sit & stand with assistance, he loves to bounce.
He has always hated laying on his tummy, but with lots of encouragement,
he is now spending time playing on his tummy and rolling over from front to back and back to front..
He babbles all the time, he just loves to hear himself! His motor skills are improving, he picks things up, holds his bottle, he is quite amused at his hands. He seems to be right on track developmentally.
(It was like he was on pause for two weeks during the seizures.)
The best part of all, he makes eye contact again .
I know that no one knows what the future holds for children diagnosed with this, it affects each child differently. I do believe that early diagnosis and intervention is the reason Nicolas is progressing so well.
At this point, he is still taking 500 mg a day of Vigabatrin, which we get now get in a capsule form. (The pharmacy grinds tablets and puts them into capsule form)
I open them up and mix the powder with 10cc of liquid, which I split into even doses of 5cc's. He gets one dose with breakfast and the other dose 12 hours later. From what the neurologist says, this is a pretty low dose, but it has been very effective for Nicolas, so for now we will continue with the same amount.
He has been to specialists to check his eyes, hearing, and development, so far he's passed all testing.
We still have no idea what caused the seizures, his MRI and genetic studies have been normal.
The gastro reflux he had during the onset of seizures resolved at the same time the seizures stopped.
Nicolas had another EEG done on the 23rd of this month, it was NORMAL, there were no signs of hypsarrythmia or abnormalty,
His nuerologist is extremely pleased with his progress, he wants to continue for another 8 weeks on the Vigabatrin (500mg per day) and then do another EEG, if that is also normal, he will wean him off the medication completely!
I realize this is a lot to read, but I remember the first few days after he was diagnosed. I was desperately looking for info regarding Infantile spasms, and all I got was stories that seemed gloomy and hopeless. I remember how touched and relieved I was to find a mother's story regarding her son Jacob, it brought tears to my eyes, because like her... I was that mother, bleary eyed, desperately searching for answers, for help. I am very grateful that we have a wonderful support system of family and friends to lean on. I no longer feel the devistation I felt the day he was diagnosed. I hope that my story will also help other parents faced with this diagnosis. Please feel free to email me if you have any questions.