The Diagnosis

The last few days have been the most difficult and scariest days of our lives. It all started (although we didn't know it) on the plane ride going to Mexico two weeks ago. As we landed, our son Marek was sitting on my lap looking at his daddy when his eyes would rhythmically widen and he would push his neck forward. We thought it was funny and considered it to be a reaction from the pressure of flying since it was Marek's first plane ride. Our whole vacation he was a happy little "normal" 5 month old. He went swimming, we took him to the beach and played with him in the sand and enjoyed just having fun with him. We met a lot of other families at the resort with kids around the same age as Marek and what I was amazed at was how much they were doing developmentally that our son wasn't doing. Marek doesn't hold his head up when he is on his stomach, he doesn't reach for toys or straighten his legs when they touch the floor. I had been concerned about these things before but I kept hearing from everyone around us that babies will do this with time.

On Tuesday night January 6th Ryan and I put Marek to bed and like always he would continue to cry so we would go in there every ten minutes to check on him. One time when I went to check on him I saw something I never had before. He would throw his hands over his head and straighten his legs in a spastic very jerk way for just a second and then relax for 15 seconds. He continued this pattern for about 5 minutes. I found it strange but I thought maybe it was because he was crying so hard and that was his body's way of calming down.

The next evening, Wednesday January 7th Ryan and I were sitting on the couch and Marek was sitting on my lap. All of a sudden he started throwing his hands over his head again and straightening his legs. The same pattern that I had observed the night before. As we watched our son, we became worried and knew that something wasn't right. I grabbed my phone and started taking a video of it. I sent it to my aunt Lynn and our friend Amy (both are nurses). They told us to call the doctor. The on-call doctor told us that if he had another episode to go to the ER but if not to just come in the next morning. Marek didn't have another one that night so we were scheduled for an appointment at 9 the next morning.

We met with our pediatrician and we showed him the video. He told us he would like to send us to get an EEG ran and scheduled us for an appointment at 1pm that day. He told us that chances were the EEG would be normal. We headed to Children's Hospital that afternoon and watched as they hooked Marek up to all the wires. We were hopeful that everything would be fine. After the test was over the neurologist came in and sat down and said, "Well guys, I don't have good news." My heart dropped and I immediately started crying. I didn't even know what was wrong at that point but just how she said it and handed me a box of tissues hit my core. The neurologist said that his EEG was abnormal, specifically in the back part of Marek's brain. She was going to admit him to the hospital so she could run an MRI, a Lumbar Puncture (Spinal tap) and blood work. As they were disconnecting the wires from Marek he had another episode. It was actually a blessing because the neurologist was able to observe the type of seizure he was having. With that observation and the results from the EEG they gave us the diagnosis of Infantile Spasms.

That night seemed to last forever. Ryan and I read as much as we could about this very rare form of epilepsy. Only around 2000 children are diagnosed each year. Of course what we read was breaking our hearts. Infantile spasms could lead to developmental and cognitive problems from minor to severe brain damage. I don't think we slept for more than 20 minutes that night.

The next morning Marek went for his MRI and Lumbar Puncture. It was so sad watching him go through all this at such a young age. Both of us wanted to switch places with him. We both prayed for positive news to come from these test results.

Later that day, Friday, Janurary 9th the Neurologist came in to talk to us. He told us that the blood tests that had been completed were negative and his MRI scan was normal. We are still waiting for the results from his Spinal. We are hoping for it to be normal. If it comes back normal his infantile spasms will be considered cryptogenic which means there is no known cause for his seizures (which is actually a good thing believe it or not). He was put on anti-seizure medicine at a low dose and we are going to continue to increase his dosage until we can get the seizures to stop. If we can get them to stop and he responds to the drugs they are hopeful that with time and a little therapy he will catch up developmentally. We are by no means out of the woods yet but with all the normal results our spirits were lifted.

Our little peanut is strong and brave and we are praying with all our might that this medicine will work!!