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.

Results for the 24 Hour EEG

Marek did great during the EEG. He fussed while they put his leads on but once his little hat was on he was the best baby. As soon as he was hooked up he started to have the little "seizure like" spells that we had been constantly seeing at home. We were surprised at how many he was actually having. Every time we saw him do something that we thought could be a seizure we were told to press a button that would mark the EEG with a timestamp and then the Epileptogist would be able to review it. We pressed the button 15 times in the first two hours. I guess at home we haven't been counting the amount of time we see things so it was kinda scary to see these strange movments so many times in a short period because we were told they were probably spasms by Mareks doctor when we sent him a video. 

It has been 12 days since we saw the last "typical cluster of spasms". I think Ryan and I were starting to believe that the third time of reaching seizure freedom would be the charm. Every doctor, nurse and tech that came in yesterday asked us when was the last time we saw a cluster, and I would reply with 12 days ago. They all seemed pleased and optimistic. Then the unthinkable happened. He started having a cluster of spasms (49 spasms in 23 minutes). It was heartbreaking to Ryan and I. We thought we were on the right track and then these ugly monsters come storming back into our lives. We honestly wanted to pack up and leave right then and there. We thought, "why stay hooked up when clearly he is still having spasms, which meant the Hypsarrythmia was back and his brain was slowly being damaged." It was hard to stomach staying there all night and we were dreading the morning when the doctors would come in and tell us the horrible news.

Morning came and we anxiously waited for the doctors to make their rounds. WE JUST WANTED TO GET OUT OF THERE. Marek's doctors finally came in. These were the results:

Good news first-

• We pushed the button over 25 times for his face scrunching/eye rolling/should shrugging = NONE WERE SEIZURES!!!
• Marek had ZERO seizures during the night. (So his waking up every 20-30 minutes is due to either medicine or bad learned behavior)
• Marek had periods of normal brain activity. The doctor said that if we would have had a routine 40 minute EEG it would have been read as normal depending on which 40 minutes they would have captured.
• Marek's EEG did not improve from his previous but it didn't get worse either and it is nowhere near the chaos of Hypsarrythmia that he had when he was first diagnosed.

Not bad but the not so good news-

• The one time we pushed the button when he was having his "classic spasms" was in fact a seizure. They are unsure whether the seizure was a spasm or tonic seizure however, they informed us that it didn't really matter because they would treat it the same way. 
• They are still seeing spikes on Marek's EEG. They explained to us that spikes are like the ticking you hear the furnace make right before it ignites and turns on. IF the "furnace ignites" then it would lead to Marek having a seizure. Basically Marek is very prone to seizures but his medicine is helping keep them at bay which is good. We are still hoping that his EEG is one day completely normal.
• The doctors are hopeful that IF the seizures stay away he will continue to develop. We are still skating on thin ice, Marek is currently weaning off the steroids which could lead to more seizures and we will begin to wean Topamax this weekend which could also lead to more seizures. To combat these risks the doctors are upping his dose of Sabril to hopefully keep him seizure free.

We thank God for these good results and we also thank each and every one of you that have continually been praying for our little peanut. Although it was a very scary 24 hours, we are very happy and relieved with the results. We will be continually praying for seizure freedom and that Marek continues to make developmental progress. 

Finally a 24 Hour EEG

Marek has finally adjusted to his medication, Sabril/Vigabatrin. When we started the medicine last Friday he was very tired and fussed all day and night. Over the weekend we have seen him slowly get his personality, stamina and strength back. It was scary while he adjusted to the medication because we are always second guessing whether his inability to work at therapy is due to the IS regressing his skills. It is reassuring to us to see him holding his head up for long periods of time again and trying to figure out how to roll over from back to tummy.  Marek has had some rough therapy sessions these last two weeks because he has been adjusting to his medicine. Hopefully now that he is back to his old self again we can see him make some gains in his development.

Although we haven't seen any of his classic spasms we have been noticing him doing a lot of strange, involuntary movements with his body. We have been wondering for the last few weeks whether these movements are different forms of spasms or if Marek's IS has evolved into different seizure types. The only way to know whether his movements are normal baby activity, spasms or seizure is to capture the movements while hooked up to an EEG. Most EEG tests are 45 minutes which I have felt are not long enough to give us conclusive results on what is going on with Marek. I have been fighting for a 24 hour EEG for over a month and was FINALLY granted one. We will be admitted to St. Louis Children's Hospital tomorrow morning at 8:45 am. We will stay there over night and be discharged some time Thursday. We are very anxious to see the results. We are hoping that all the little movement he makes are not seizures, and definitely not spasms since he has so many throughout the day. Please pray for an improved EEG reading for our little guy tomorrow.

Marek had a a nutritionist come and evaluate him today and he was approved for services once a month. Marek sleeps in 30 minute increments at night (another reason we are wanting a 24 hr EEG so we know whether he is waking up because of seizures/spasms or because he has developed a bad habit) and drinks 8 bottles throughout the night. During the day he could care less about his bottle or baby food.  His nutritionist is going to make sure that his diet is supplemented correctly since he has been on steroids for half his life.  She will also make sure he is receiving the correct nutrition since he has the most disorganized eating schedule.

We are still waiting of the results from the parent chromosome test which will tell us whether Marek's  abnormality is anything to worry about. We should be getting those results as well as his retina test results this week.

We will let everyone know how tomorrow goes as soon as we know.

A Wonderful Benefit

Marek's benefit on Saturday was absolutely amazing. It was very emotional for both of us but in a good way. We have never felt so much love and support for our little guy, it warmed our hearts and lifted our spirits knowing how many people are there for us. We cannot put into words how grateful and appreciative we are for everyone in our lives. We wish we could name everyone individually for every little thing that they have done but our fear is we would forget someone. To everyone that put in so much time and effort organizing the event, THANK YOU, THANK YOU, THANK YOU! To everyone that donated items, food, venue, band etc, THANK YOU, THANK YOU, THANK YOU! To everyone that came out to support us or sent us donations THANK YOU, THANK YOU, THANK YOU!!!! Marek will get the best help that we can find him thanks to everyone. 

We have thought very hard as to how we could ever truly show our gratitude and the truth is nothing ever will. We never thought that we would be on the receiving side of so much generosity and support, it is truly humbling and that is why we will always be paying it forward in any way, shape or form. We hope that we can help as many people in the future that have helped us over the past few months.