June 14,2011 @ 3:46pm I heard THE beautiful sound of my baby’s cry.. he was just perfect and I was just SO blessed my second child was born healthy with no complications..Angelene, 5 yrs old , was a proud big sister to her big brown-eyed little brother.
Sept 29, 2011, at almost 4 months old was one of the scariest days for us. As a daily routine, around 9am, I change Bruno’s diaper and make him smile as usual. Not this day, after I changed him, he started shaking on the changing table, I freaked out AND I thought he was shivering from being cold as its chilly in NJ. I picked him up and covered him but he’s still shaking. I bring him to the living room have daddy try to get his attention, big sis is trying to talk to him, yet he is still shaking. I said, “He’s having a seizure.” We call 911, and they took us to the emergency room at Morristown hospital . He didn’t have a fever so at the emergency room all types of tests are being performed (CT scan, urine, spinal tap, 15min EEG, and blood work.) We praised God that all came back normal so we went home with what they said: acid reflux; it won’t happen again.
Little did we know, exactly a week later, another seizure in the morning. We were admitted for a 24 hr EEG, everything was normal but the neurologist put him on phenobarbital as it was second seizure. Exactly 10 days later, I noticed his eyes turned to one side and lil body shook, but it only lasted maybe 5 seconds so I thought I was going crazy and I was just paranoid thinking it was seizures. Three hours later, another seizure, back to the ER. Blood work, level on the low side, so the phenobarbital dose was upgraded. Later that week, the appointment with the neurologist went fine and he said Bruno would eventually outgrow it maybe at 2. What a relief!!
Maybe two weeks went by and while sitting at church one of the girls asks me, “Why are his lips blue?” My friend confirmed and said, “Yes, why is he blue”,… 911 called again, he came back to his rosy color, yet looked confused. ER staff must have thought I was crazy because his oxygen level was fine, and yet again, we were sent home. The next morning, Oct 29, again back at the ER with a tonic clonic seizure! This time I refused to go home, we were admitted and back on the EEG. Next day, another tonic clonic yet EEG didn’t read it as a seizure so the neuro on call said it could have been reflux. The nurse said, of course it looked like a seizure. Blood level of phenobarbital was high, so they started weaning him off this med as it did nothing for him. Four days later, I change him, still on the EEG, sit on the rocking chair, start talking to my baby as I noticed he turns blue, no seizure, again just turned blue. He was given oxygen for a minute, still on EEG and it read normal, no spikes.
Neuro again thinks its just autonomic, not a seizure. Of course, just imagine how I am feeling at this point. Cardiologist ran tests, chest x-rays and everything came back normal. A relief yet frustrating because we don’t know what’s causing my son to seize or turn blue.
Next day Neuro wants to put him on Topamax. I said of course not – I wouldn’t give permission to this doctor to put him on another anti-seizure med when she believes this is all autonomic. I request a transfer to another hospital but one of the neurologists from the group came to talk to me and advised he strongly believes Bruno is having seizures, although he and his partner disagree, he strongly recommends Topamax.
I agreed and my son was observed for three more days and we were sent home. TWO WEEKS LATER I hear my son’s breathing stop and felt as he had turned blue for seconds, he was awake yet acted as if he had just had another seizure, going to sleep tired and this is when he normally wakes up. I called the neurologist and he advised to increase his medication. My son was having myoclonic jerks on a daily basis ON TOP OF ALL THIS , I kept telling doctors but all I would hear is that ” babies always startle.” I knew he wasn’t just startling, it was too many at a time.
My pediatrician knew I was extremely uncomfortable and upset and he recommended I go to Dr. Robert Wood Johnson in New Brunswick for a second opinion. November 30th finally arrived and Dr Husain said he would find out whether my son is having primary or secondary seizures and had every specialist check him to start eliminating and start finding out why.
Dec 20th was a confusing day for me. The neuro advises Bruno’s a little weak on his muscle tone (which I already knew as pediatrician advised as well) and he’s 6 months but not rolling over, sitting up, nor attempting to crawl. Neuro said all was normal yet reads his genetics blood work results and gives us the confused wait-a-minute look!! My son is missing the short arm of Chromosome 2, complete mutation which includes the gene that causes Dravet syndrome (scn1a). I was sent to see geneticist at this time asap. Geneticist advised he could be a candidate of Dravet syndrome but cannot diagnose him as they need to see how he develops, and how controlled his seizures are, and sends both Dad and I for blood work (Fish). We were advised to keep a copy of the genetics blood work for any emergencies and for now he will be diagnosed as having infantile epilepsy. I will always be thankful to Dr Husain for running the genetics blood work. Of course, I was a wreck – what if he does have Dravet syndrome? I was terrified but everyone said to take it step-by-step.
Next appt with neurologist was set for mid January. Jan 12, at 6 months he got a bad cough. I called the doctor to advise so I can bring him in the next morning. Midnight Jan 12, I checked up on him, hands were cold so I brought him next to me on the bed. At 2:37AM , he opens his eyes, and had another tonic clonic seizure, a minute long, so I stayed to observe him. This time he didn’t go to sleep as usual, while laying down he kept having little jumps, stiffened arms going up and him wanting to cry while trying to sleep. This happened for one hour, I called all the doctors and at 3:17am, another seizure, this time his face turning blue. We called 911 . On the way to the hospital, he had two more tonic clonics, they had to pull to the side, get him out of his car seat, and use emergency meds to stop his seizure. It was a nightmare. My child was out of it, on oxygen and pale. I thought I was going to lose him as his little body just layed there all pale, with oxygen and paramedics covering him .
I had looked up the Dravet Syndrome Foundation website before, and found myself reading to all the ER doctors what not to administer to him if he in fact has Dravet syndrome. I was teaching all these doctors what not to give to my child to stop seizures, thank God this information was available to me through the DSF website. From there on all I kept hearing were the words I had started to hate, Dravet Syndrome. My son had RSV (respiratory virus) which in Dravet kids just worsens their conditions and triggers seizures. He had more seizures and ee were later transferred to Columbia Presbyterian epileptic floor where I now started seeing Dr McBrian, who has worked with Dravet patients.
My son is 8 months old now, and he started having hundreds of myoclonic jerks on a daily basis. As of mid January, they have lessened to maybe a couple a day, now that he is on Depakote, Topomax, and Carnitor. I hate the words Dravet syndrome, but in fact I am thankful to God everyday my son wakes up seizure-free. My son has had maybe 14 seizures, the last one was on February 14 due to a cold and runny nose. Has turned blue three times and once in a while he has head drops (so I think). There are so many new things one can experience with Dravet syndrome. I’m taking it day-by-day and trying to get informed as much as I can. Everyday I thank God for Bruno and pray that one day, maybe before he starts school, there is a cure, or maybe a way to actually keep the seizures controlled. I am also grateful we have people working towards finding that cure. Dravet Syndrome Foundation, if it wasn’t for you, I wouldn’t be teaching doctors what meds not to administer and learn day-by-day how to cope with this syndrome and what to expect.
I still need to see doctors to find out if my son has anything else besides Dravet syndrome. He always sounds as if he is congested and what does it mean that he is missing other genes. He will start early intervention therapy as he is not crawling, sitting up, rolling over, nor being vocal as he should be at 8 months. As a mother, I just want a normal child. I am realistic and not sure what to expect but to praise God everyday he is seizure free and maybe one day, there will be a cure for this syndrome..