Thanks for all of the texts, prayers and support the last few days. We are on our way home now. We are going to try to make it all the way back to St. Louis but it was an exhausting couple of days so we might stay in Indianapolis tonight if we feel we are too tired to drive. Here is how the last few days unfolded.
Monday:
We arrived at the Stilson Center at 8:30 am which is a satellite facility of Detroit Children’s Hospital. Marek did great! He didn’t even cry this time when they put the electrodes on his head. I think it was because his tech put him in a towel cocoon and he felt all safe and cozy in it. Th whole 24 hours Marek stayed busy playing with his toys and entertaining us with his squeals of laughter. He made all his “strange, seizure-like” movements that we have been seeing lately which is good because we would soon be getting the answers to whether these were truly seizures or not.
Tuesday:
They unhooked Marek at 7:30 am and we headed over to the hosptial for the PET scan. We were supposed to start the PET scan at 10:15 but unfortunately the machine had broke the day before and they were still fixing it when we arrived, so our test got delayed a few hours. For those of you that don’t know, a PET scan looks at how the brain processes glucose, basically looking at how the brain functions. In order to see how the brain is processing, Marek had to be injected with radioactive glucose and then sit still for 30 minutes, no touching him, no talking to him and NO GIVING HIM KISSES. While his brain was taking up the glucose he was hooked up to an EEG so they could record if he was having any seizures. This was important because if he would have had a seizure while in the PET SCAN it could give a false reading so they check the EEG with the PET results to make sure that the results are accurate. I was nervous about Marek sitting still during the 30 minutes but he feel asleep as soon as they gave him the medicine and he slept so soundly that they decided to try the PET scan without sedation. Which is outstanding because sedation can actually bring on seizures. He completed the PET in a natural deep sleep and then we headed back to the Hotel to rest.
Wednesday:
It was a long night, Marek didn’t sleep much, maybe he was nervous about the results like Ryan and I were. Overall we got good news at the appointment! I, of course, was hoping for PERFECT/OUTSTANDING/INFANTILE SPASMS ARE GONE FOREVER news which wasn’t the case so I have had to do some self reassuring that we did receive “GOOD” news. Ryan is awesome at reassuring me of this, constantly.
24 EEG: Dr. Chugani said that for the most part the 24 hour EEG was normal! He didn’t have any seizures while hooked up for the whole 24 hours. They did still see spiking coming from the back part of his brain, which Dr. Chugani said he wasn’t too worried about. He said even people with perfectly normal EEGs can have spiking the back potion of their brain. We are having the results sent to our doctors back in St. Louis so they can compare these results to the 24 EEG we had in May.
Marek has been doing very well as far as his spasms are concerned, or at least we have thought. Marek’s last cluster of spasms was June 4th. We have been cautiously and secretly celebrating weekly Seizure Freedom. I say cautiously because Marek’s seizures have changed throughout the months, we have constantly changed our definition of what a typical Marek seizure looks like. Since they are constantly changing we are always questioning if what he is doing is normal baby movements or if they are seizures that have changed looks once again. So when we heard the news that his 24 hour EEG didn’t pick up any seizure activity I sort of felt like “maybe he really has been seizure free for over a month”. About 2 minutes after that thought entered my mind Dr. Chugani noticed Marek making a very similar movement to what we described to him as being the “strange” movements that we have noticed. Since he was able to witness one first hand he told us that unfortunately he felt that it was a very subtle cluster of spasms. So we are at a loss of whether Marek has been seizure free or whether he is still having spasms daily, since he does these movements 1-2 times a day. I only wish we were hooked up to an EEG at that moment in time in the doctor’s office so we would know for sure.
PET Scan: We have possibly found out the cause of Marek’s Infantile Spasms. The PET scan showed that Marek has Cortical Dysplasia on the right hemisphere of his brain. Cortical Dysplasia is a malformation of the brain. The reason that this malformation didn’t show up on the MRI we had done in January is because it is at a microscopic level. This doesn’t mean that the malformation is microscopic, which I thought at first when I heard the word. What happened was in utero Marek's neurons didn’t form the correct electrical connections. This area where the abnormality formed stretches over three lobes of the right hemisphere, his temporal, parietal and a small part of his frontal lobe. The “good” news is that this means there is a focal area so surgery is still an option for him. This malformation of the brain or Cortical Dysplasia is most likely causing his seizures. There is no cure for Cortical Dysplasia, they basically treat the seizures that are caused by it, with anitconvulsants or they perform surgery to remove it.
Where we go from here:
Dr. Chugani doesn’t feel that Marek is taking the highest dose of Sabril that he could be, so he wants to up his dose of Sabril for 3-4 weeks and see if we can clear up any remaining spasms (if he’s still having any at all) that way. A month from now he wants to run another 24 hour EEG which we will do in St. Louis. If we pick up any seizure activity on that EEG or if Ryan and I still report that he is having seizures then he wants us to try the Ketogenic diet for three months. If that is not successful then he feels that we have tried everything we could for him and he would at the time recommend Marek to the board for surgery. We will also be watching Marek’s development during these next few weeks. Since he hasn’t made any strides forward in some time, Dr. Chugani will also use his developmental progress to guide him in his decision as to if/when to do surgery.
I wanted all the information that we got from this visit to be black and white, to have some sort of “ending” in sight for this long and ugly journey we have been on. It’s hard to swallow that we are still having to follow the “wait and see” model; Make a med change, monitor it for a few weeks then go from there. My biggest concern right now is that if we can’t catch one of the subtle episodes on an EEG they are basically looking at Ryan and I to confirm that he is or isn’t having seizures still and I’m nervous with the next medical decision resting on our observations and not some sort of definitive test.
Ryan and I have to shift our concern and energy now to Marek’s development. We know he has Cortical Dysplasia, which puts him at risk for seizures the rest of his life, so worrying about seizures has to come second. We need to monitor his development and make the best decisions we can in order for him to reach his full potential. So all in all, we got good news. We didn’t receive any bad news, but didn’t exactly get the answer to how to get him on the fast track to catching up developmentally. So lots and lots of therapy and hoping for meds to start working more efficiently it is. We’re also looking forward to getting our little buddy off of most of the medications his poor little body has had to put up with these last 6 months.
Dear Marek,
Wow, one year old! Happy first birthday my sweet boy. This last year has been filled with the happiest and scariest days of our lives. The happiest day of our life was exactly 365 days ago at 5:54 am when you came into this world. I have never cried so many tears of joy, you were the most precious little thing that God has ever made and you were all ours. I pictured in my mind, as I held you those first days of your life, how your first year would be. I could see your Daddy and I teaching you so many things about this world. I pictured celebrating you crawling, your first words and maybe even your first steps by your first birthday. This year has gone so differently than I could have ever thought it could. With all my tears of joy that I cried this year I have also cried many tears of sorrow and fear. When you were diagnosed with IS our world was literally turned upside down. It has taken so much away from you and our family. It has left us holding our breath from seizure to seizure, it has left us fearful of what tomorrow holds and it has made you struggle which is the hardest thing to bear as parents.
It has also changed our lives in a positive way. I never thought while holding you those first few days that in the next year it would not be your Daddy and I teaching you everything but rather you teaching us things about life that we never understood. Marek you have taught us so much. You have taught us to never take ANYTHING for granted, that every day is a gift and we should take full advantage of every minute. You have taught us how to be strong, brave and resilient. You have taught us how to notice the small things and to celebrate each little thing in our life and to be thankful for them. You have given us more laughter and joy through these tough seven months than I have ever experienced in my lifetime. We love you more and more each minute of every day and we are SO PROUD of all you have overcome. You have faced an evil demon this year, one that has tried to take everything from you, but you haven’t let it. You are a fighter, a brave, strong and determined fighter and you will win this fight.
Your daddy and I have been trying to think for weeks now what would be the perfect gift for you. It is hard because the one gift that we would love to give you isn’t possible. If we could take away your hardships we would in an instant. We promise that we will be beside you every step of this journey. We will push you to reach your potential, because sweet baby you have so much potential and one day you will move mountains. We promise to fight for you against anyone who stands in your way on your road to greatness, whether it be doctors, insurance companies or therapists we promise that NO ONE will hold you back. We promise to NEVER take anything for granted and to celebrate every inchstone you reach like most parents would celebrate first steps or high school graduations. 
It is hard to believe that you are one today. On one hand this year has gone by so fast, on the other it has moved so slow that I could hear the second hand as it hit each of its sixty marks. I hear a lot of parents say that their babies are growing up so fast. I can’t say that this year because part of me is still stuck in the beginning of January when you were five months old before this storm rolled over us. I hope and pray with every ounce of my heart that your next year of life will be easier than your first. You have endured more during your first year than most do in a lifetime and you deserve a year to just be a kid. I am hopeful that this year brings an end to all the medication your have been on that has blanketed your personality. Although we get short periods where your personality shines through the fog of medication I truly feel that it has been many months since we have seen the real Marek. I hope that your struggles become smaller and smaller and that one day this will all be behind you. I pray that this next year is the start of seizure freedom for the rest of your life that you get to take back all that was taken from you.
Marek David we love you to the moon and back. Happy first birthday peanut!!
