Michael N.’s Story
Michael was born on April 10, 2009. Michael was a healthy boy he weighed 7lbs 9oz and was 22 inches long. Michael was a very colicky baby right from the start, but a week after he was born he began to vomit all the time. The doctors assured me that nothing was wrong because he was gaining weight and i was just being a paranoid first time mom. However, something in my gut wouldn’t let me accept that answer so on April 30th, 2009 at 3am I took Michael to Evanston hospital and he was diagnosed with pyloric stenosis and had surgery that morning at 9am. Michael recovered quickly and soon the vomiting was completely over. However Michael always would get startled and jerk his arms out even when he was in my arms and secure, but whenever i told the doctors they assured me i was just again being paranoid. When Michael was 4 months old our lives took a dramatic turn. While my husband and I were changing Michael early in the morning on August 20, 2009 he began shaking all over. We live 5 blocks from Lutheran General hospital and rushed him, where he proceeded to have a 45 min seizure. The doctors assured me it was a febrile seizure, (even though i told them i took his temperature that morning, just as i did every morning and he did not have a fever) but they said they would watch him over night and we would speak to the neurologist in the morning. The next morning the neurologist said not to worry it happens to infants with fever and they released us. 3 days later Michael would have another 40 min seizure, this time they decided they were going to keep him overnight and do a CT scan the following morning. The next morning the neurologist came in before my son could have his CT scan and said that Michael’s CT scan was normal, at this point I lost all confidence in the hospital and the neurologist and demanded that my son be transferred to Children’s Memorial Hospital which was about 40 minutes away from home. The neurologist agreed but convinced me to let them do the CT scan so they could send the images with the transport team. When the doctors at children’s saw Michael and were given reports of his seizures their initial thought was that he had a right frontal cortical dysplasia, however upon review of the images they did not see any dysplasias. At that point an epileptologist spoke to my husband and I and gave me all different scenarios but when the doctor said Dravet’s Syndrome, without any explanation of what it was I had an awful knot in my stomach, that i just could not shake off and I asked to know more about it, the doctor said I have seen Dravets children and your son does not have Dravets, but I insisted she check again and again she said no that’s not what this. I then asked her to explain exactly what it was and she began to describe a severe version of what was happening to Michael. Michaels Neurologist Dr. Michelson was not convinced that it wasn’t Dravets but he was started on Keppra with no success, so they added topamax and we slowly weaned keppra. At that point Dr. Michelson decided she was going to treat Michael with the medications as if he had Dravets and so we began depakote and this is when we saw some change in his seizures and she decided to draw labs to test from the gene mutation. When we got the results, they were negative, the neurologist and my husband and I were shocked. Dr. Michelson then decided to have Dr. Laux come and speak with us and that is when dr. Laux noticed that the labs they took were not complete and drew another complete lab for the gene mutation and this time it came back positive. Michael was officially diagnosed with Dravet’s when he was 7 months old which at that point was devastating for us as a family but medically we were already treating him as though he was positive so nothing changed as far as medications.
Michael is now 2 years old and he is on Depakote, Clobazam and carnitine, which has greatly improved his seizures, in the sense that they are shorter in length and can be controlled at home (unless he is very Ill and has a high fever). I know a lot of what families read are devastating and scary and make no mistakes it is all of those things, however Michael has never been severely delayed. Michael is delayed in speech but he is only 2 and he does say a lot of words just not perfectly, and he has very shaky hands due to a combination of the meds and a slight delay in fine motor skills. But Michael is a very happy boy who can feed himself, operates the Ipad at an advanced level, walks, runs and does everything a normal 2 year old would do and yes that includes things that get him in trouble. Michael learning capabilities are limitless, he can accomplish anything he wants with our support, but it is us as his parents that were and are still disabled by fear. I use to not sleep at night and just watch him sleep, in order to make sure he was not seizing and ok, but the DSF has provided us with a seizure alarm and now i get in a couple hours a night. (I still set my alarm to check on him all the time) But i wanted to tell Michaels story because I wanted other parents to know that their is hope, with awareness and early diagnosis anything is possible. That is not to say that this journey is an easy one but it is the journey that God has lead us to and we are grateful for the unconditional love the Michael gives to us everyday and I never knew the strength of a mothers love until I met my son. I will happily and easily lay down my life if it meant he wouldn’t have to deal with the struggles he has now and the ones ahead, but until God gives me that as an option we as parents have to fight to bring awareness to this disease and fight for our children’s voices to be heard, which is what the DSF has been doing and continues to do for each and everyone of our children!