Happy 1st Birthday

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!!

 

Second Trip to Detroit

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.

Heading to Detroit

We celebrated Marek's first birthday yesterday in Marengo. It was AMAZING!! I will post a separate entry all about his birthday parties next week after his second party. I just wanted to quickly say THANK YOU to everyone who came. Marek is so loved!

We are heading to Detroit in about an hour. Please send extra prayers that we get the answers we need and that we find a solution once and for all for Marek's Infantile Spasms. WE say the same prayer every night with Marek; that God leads us down a path that will lead him to living an IS free life forever. We are hoping that we are on that path now and that our prayers will be answered. 

Life off Steroids

It's been a while since I last updated everyone on Mighty Man. Things have been crazy around here with rearranged therapy sessions (a few of his therapists are going on vacation), planning for a first birthday, and organizing our trip to Detroit. Marek is doing well! He has been super tired during the day. We had a few days where he was only awake for 5 or 6 hours. When he is awake though he is much more alert now that he is off the steroids. This is also our last week on Topamax!

Our appointment last Wednesday  left us sort of confused. Our first appointment was with the neurologist that will be guiding us through the Ketogenic diet. He was very supportive of Marek being a candidate for the diet and wants to do one more EEG right before we initiate the diet so we have a better baseline to compare things to. We met with the dietician, Morgan, and were told that Marek would probably start the diet a week later than we thought, right around July 27th. Then we went to the appointment with Marek's original neurologists who in my opinion seemed "checked out". They weren't sure if we should put Marek on the diet or not. His one doctor literally said it was up to us and if we were okay with Marek having a seizure a week as long as he was developing we didn't have to start the diet. My jaw hit the floor. What mother would be "OK" with their child having a seizure a week. They have told us to talk to Dr. Chugani and have basically deferred all decision to him right now.

We also told them that we are worried about how much Marek has been sleeping during the day, which conveniently he was sleeping when we got to the appointment. It took a lot for the doctor to wake him up and their conclusion was that he is being over medicated. He is on three "downer" medications right now, which he always has been on them but the doctors feel that the steroids were counteracting the side effects of these medications and now that he is off the steroids, the side effects are starting to show more. They told us to take him down 1.5 ml(per day) with Onfi. That seemed really fast to us so we have once again made our own wean schedule and will bring him down a little slower over the next three weeks.

Therapy is pretty rough right now. Since schedules are changing, therapists are coming during nap time, which on top of being sleepy from being over medicated, is equalling a lot of meltdowns. When I work with Marek in the few hours he is awake he does work really hard and his sitting is really coming along. Ryan timed his sit the other day and he is up to 3 minutes sitting by himself! Woohoo! Marek hasn't been rolling over lately and we are hoping it is because he has been extra tired or because playing with his toes is his new favorite things to do and clearly you can't play with your toes on your tummy.


 Therapy is definitely changing though. I have found myself lately feeling a little heartbroken when working with him because I honestly feel that since coming off the steroid, Marek is more aware of things and I see him get frustrated when he can't do something that he knows he should be able to do. It's like his mind finally knows I need to move to get that toy right out of reach, yet his low tone in his trunk makes it impossible right now to even army crawl. He also is voicing his frustrations much more. When he even slightly starts to faceplant while sitting he will start to cry or when his arm gives out during tummy time he screams. I hate that IS has taken away so much from him and made things so difficult to attain. But we'll continue to fight hard nonetheless.

I haven't heard from Detroit yet with times for each appointment but they did tell me that we would be traveling to a different facility for our 24hr EEG about a half hour outside the city and then the rest of the test will be done at Children's Hospital of Detroit. I will be working on booking hotel rooms tonight. July is going to be CRAZY but in a good way! Marek and I will leave for Chicago on July 9th, Ryan will come up the next day. We have Marek's first birthday party Saturday the 11th at my parents house, then we leave Sunday the 12th for Detroit where we will be up there for close to the entire week then back to St. Louis where we have Marek's second 1st birthday party here in Swansea on July 18th. Let's all pray this goes smoothly...YIKES!!!! I am looking forward to celebrating Marek's first year of life. The kid has had one tough year and deserves some fun.

Ryan, Marek, and I go for our genetics appointment this Thursday where they will draw blood for the whole exome sequencing. They will be testing every single one of our 30,000 genes! And these results will take 3-4 months to come back, so we'll wait again. We've become very accustomed, but not necessarily thrilled with all the waiting. Our little buddy continues to amaze us every day and each day we learn just a little more about how truly blessed we are to be his mommy and daddy.

I most likely won't update the rest of the week so we wish everyone a happy and safe 4th of July!

Test Result Update

We received all of our test results back...FINALLY.  The official results for Marek's retina test was normal. So we now know that any problem he has with his vision is because of his Cortical Vision Impairment which is caused by his seizures.

The parent chromosome test came back as well. Marek had an extra part on his seventh chromosome so they tested Ryan and I to see if we had the same abnormality. We found out that I am actually the one that has this abnormality. The doctors feel that because I have this malformation and have not had any major health issues that this is NOT the cause of Marek's IS. We will now move forward with the Whole Genetic Exome Sequencing. We are scheduled to go see the geneticist on July 2nd, at the appointment they will draw blood from Marek, Ryan and I and send it off to test all 30,000 plus genes that are in each of our bodies. It will take close to four or five months to get the results back. The geneticist told us that we will hopefully get an answer with this sort of testing but since there are so many genes in the body that the medical field doesn't know the function of there is a possibility that we will have more questions that answers when everything is complete.

We are also moving forward with preparations to start the Ketogenic diet at the end of July. We will be taking Marek to the Keto diet clinic on July 24th where they will run the rest of his blood work and we will meet with a new neurologist who will oversee Marek's progress during the diet.

We got Marek a neck float for the pool this summer and Marek was able to use it for the first time on his first "vacation" away from Mom and Dad. He went up to my parents house to swim and get spoiled. It was very hard for me to say good bye even though it was only for two days. I cried "just a little" when he left....or maybe a lot, but with FaceTime and Video messages I felt better after a few hours. He did great in the pool.

Marek continues to work hard in therapy. We are working on his sitting and weight bearing through his arms. He is making progress, I wish it would happen a little quicker than it is but I have to keep reminding myself that he will do things when he is ready. He is still doing amazing in his stander. We are doing 15 minutes three times a day. We were going to go up on the time but he is leaning back while in the stander which is putting a lot of pressure on his heels and causing some irritation on his skin so his therapist recommended that instead of longer time periods during each sessions that we do shorter periods but more sessions a day.

Marek is adjusting to being off of steroids. He has been very irritable and sleepy without them. Poor kid has side effects on the drugs and withdraw symptoms when he is off of them. I spoke with his neurologist today and he said to give him another few days to see if his body will regulate on its own and if it doesn't he will draw blood to check his cortisol levels. Fingers crossed that his body can get back on track!!!

Thank you once again for everyone's support, love and prayers!

Last Week of Steroids

Marek has been doing so much better these last few weeks (I'm going to go knock on wood real quick because it makes me nervous to write that). He was fitted for his stander last Wednesday and loves it! Our goal is for him to be standing twice a day for 30 minutes. We have made it to 19 minutes once but he usually tires out around 15 minutes, but it is a great start! It hasn't even been a full week that he has been using it and we have already seen him being able to bear weight for short intervals of time.

Marek has officially mastered rolling over 100%. He learned how to roll over his "bad" shoulder on Friday and now he is constantly on the move. We have been focusing on sitting and getting him to protect himself when he falls. His sitting is slowly coming back however, he is having a hard time putting his hands down to protect himself when he loses his balance, but he will get there. His PT gave us lots of exercises to help him practice gaining this skill, which should be a reflex for him. She even gave Daddy a special exercise to do with him.

This is Marek's LAST WEEK OF STEROIDS!!! We are so excited that the end is so near, but also nervous. His last dose will be Sunday and we are hoping that A. he doesn't start to have more spasms and B. that his body can start making cortisone on its own. We learned that when kids are on steroids that their bodies stop producing this since it is found in the steroid and sometimes their bodies don't start reproducing it when they come off the medicine. So we will be watching him very carefully this next week.

Many people have asked if we are still planning on going to Detroit now that Marek seems to be doing better. The answer is still YES!!! The spiking on his EEG is still causing him a challenge when it comes to development on top of the fact that he is not seizure free. A doctor out of UCLA put it this way when describing what is happening with the spiking. He said it is similar to when one walks into the kitchen and just stands there wondering, "why did I come in here?" But this happens all day long with Marek, his brain is constantly "rebooting" and trying to remember things. We still feel we need Dr. Chugani to evaluate him and tell us what our next move should be. We have been patiently waiting for confirmation on our appointment. We were told we most likely will not hear anything this week but they are hopeful that we will know something by the end of next week.

This past weekend we enjoyed taking Marek downtown Belleville for their BBQ festival. He loves being outside. He even got some new shades since his baby ones don't fit his steroid cheeks.

Ryan and I want to thank Sean again for all he did for Marek on Sunday during the Poker Run. You are AMAING!

Thank you to everyone who continues to pray for our little man, he is going to keep fighting until he beats this once and for all!

Regained Milestones and Memorial Weekend Fun

Marek has been working hard this last week. We have been adjusting to my mom being gone and trying to figure out sleeping arrangements. As of now Ryan stays up until midnight with Marek and then I take over until the morning. He hasn't been sleeping any better but our fingers are crossed that this will change when we get off steroids. We dropped his dose of Prednisolone on Sunday to the lowest dose it has ever been. We are also suppose to be weaning off Topamax as well, but I haven't worked up the courage to start taking him off of it yet. Something in my gut has told me to wait a little longer before starting the wean. I am just scared that weaning off two medications at the same time would be too much for him. I am sure the doctor will be thrilled to hear that I have held off on this.



Marek went 6 days without a seizure, but unfortunately had a 27 minute cluster Tuesday afternoon. Since last time he went 12 days without a seizure we are a little nervous that they might becoming more frequent. His neurologist will be upping his dose of Sabril on Monday so we are hoping that he doesn't have any more before then.

Since Marek had his 24hr EEG last week we had to cancel OT and PT. His OT is out of town this week so he only had PT this week. His therapist is just amazing. Marek needs a stander and since our insurance continues to deny therapy the state is now covering services. The downfall of this is that everything moves at a snails pace when trying to get equipment. So we will be waiting for the state to approve our request for a stander and send it out to us. We have heard that it could take months!!! However, since we have such an out standing PT she has been able to find a demo stander that Marek was able to get on Wednesday!!! We just have to wait for him to get fitted for it before we start using it.




We have been working on getting Marek to roll from back to tummy for the past few weeks. Tuesday night while doing dishes Ryan came in the kitchen and told me he left Marek on his back and he turned over to his stomach. I didn't believe him, and since Marek didn't do it again all night I dismissed it. Mom and I FaceTime every morning and while on the phone with her Wednesday Marek finally rolled over back to tummy and has been doing it non stop over the past 48 hours! Now we have to start working on his sitting because he has forgotten how to do this. Therapy yesterday helped and his PT gave us a bunch of exercises we can do to help regain this skill.



Marek went to his first Cardinals game Wednesday night (Thanks Mom and Dad). He was the best baby ever and  caught a foul ball on the first pitch of the game. He stayed awake for the whole game, which Ryan and I were super excited for since we figured he would sleep for a long period of time once we put him down for the night.....WRONG! He slept for 45 minutes.

I called the hospital on Friday to see if Marek's ERG (Retina) results were back yet and the nurse informed me that his test has not been finalized by an ophthamologist yet but the preliminary results are normal. We will have the final results some time next week. Ryan and I are still waiting for our Chromosome test to come back.