Four days of steroid freedom

Marek has had a very busy week. Monday he went to get his blood ran for the Keto diet and Topamax. They also drew blood for genetic testing. Tuesday he had OT, Wednesday was PT, Today he had an appointment with his neurologists and tomorrow he has DT.

I will start with the positives. Marek has found his voice again. While on ACTH he never babbled at all. The day of his last injection his speech came back full force. We even have a new HAPPY scream that is his preferred sound right now. He isn't using any consonants but is stringing together just about every vowel, at every VOLUME. He has also had his personality and demeanor return this week. He laughs at everything and has hardly cried all week. He slept for his longest stretch in months, FOUR whole hours. I didn't even mind the fact that he was then awake for the next four hours since he entertained me from midnight until 4am with lots of "stories" and giggles.

The not so good news is that he has regressed all the way back to where he was at the beginning of January. He has very low tone in his trunk, legs and arms. He hasn't rolled over in two weeks and can no longer sit up unassisted for any length of time. I think that is what is the most painful, watching him lose all the skills he has worked SO hard to gain. It is also hard to stomach that when he was first diagnosed he was 5 months delayed, now he is nearly 8 months delayed.  He is having what we think are seizures/spasms multiple times a day now. They are not the classic spasms that we are used to but they are spasm like in the fact that his arms go up and down and they are clustered together. The neurologists feel that since he has regressed that it is a possibility that his hypsarrythmia has returned. They don't feel the need to run an EEG since it wouldn't change their course of treatment so we will never know if his hypsarrythmia has come back at full force. The doctors told us that they are going to use Marek's development as their guide for treatment. If he starts to develop again, then we will assume he is responding to the medicines he is on. It is hard for us because we want an EEG to tell us exactly what is going on in his little brain but I guess it makes sense that if he starts to develop his brain activity must be normalizing.

On Monday we started Topamax (this was the drug he was initially on that made his bicarbs drop) we stayed at a low dose all week and his bicarb levels were checked today. The good news is that they are still within the normal limits so we can continue to stay on this medication. The doctors want to titrate up the dose as fast as possible to see if he has success with it quickly. This way if he doesn't show any improvement they can take him off of it as soon as possible since he can't be on Topamax when he starts the Keto diet. We are not out of the woods with his bicarb levels though, they can still drop at any time but at least this is a better start than the first time we were on Topamax. We will also be going BACK on steroids tomorrow. Marek will be on Prednisolone. This steroid is not as powerful as ACTH but our hope is that if he responded to one type of steroid he will respond to another. Prednisolone comes with the same side effects as ACTH so we will be keeping Marek isolated as much as possible. I am keeping my fingers crossed that the irritability and insomnia won't be so bad. I also can't imagine him gaining any more weight, he is up to 24 lbs and could barely open his eyes the last week of ACTH. However, with a new treatment plan comes new HOPE. We are hopeful that maybe this new treatment will be the miracle combo of medications that will cure Marek of IS.

Our neurologists in St. Louis are now looking into seeing if Marek is a surgical candidate. They are going to do a PET scan on him in the next month to see if there are any lesions on his brain that hadn't shown on the MRI and to also see if there is a single focal point to Marek's seizure activity. This is the same thing Dr. Chugani from Detroit wants to do so we will have to see if insurance would cover two PET scans. We were told that all of Marek's labs came back a "go" for the Keto diet so he will start that if Prednisolone doesn't work.

So we are praying for these new drugs to work, that God keeps our little guy safe from their harmful side effects and that they help him to start to make gains in his development again.

Short Lived Freedom

Marek had been doing well since our trip to Detroit in regards to his spasms. We were noticing only one cluster a day and with less than 10 spasms in each cluster. Then we went a day with out spasms. As the 24 hour mark approached I could feel my anxiety rising. We hadn't gone spasm free for 24 hours in months. My mom and I knew it was approaching but we couldn't talk about it out loud to each other or anyone else. We were scared that some how we would jinx Marek and the spasms would return. 24 hours came and went with no spasms. My heartbeat must have doubled ever since then because of sheer joy as well as out of fear. I watched Marek closer than any Mom watches their child. It has become a habit that every few minutes I have to assess what he is doing with his eyes and arm movements. Well after we went 24 hrs without a cluster I was almost scared to look at him because I was scared I would see his eyes roll up and his arms go stiff. The pit in my stomach grew three sizes because I never knew what the next hour would hold for Marek. 24 hours passed by, then 48, then 72.....we were on a roll yet the fear, anxiety and tension never let up.

We went down to to one shot a day on Sunday. I told Ryan how nervous I was about this because for 7 weeks now Marek has had a dose of steroids in his system. Sunday came and went, no spasms. Monday we spent the day outside and Marek was laughing the whole day. I let myself for one minute think that maybe, just maybe, I would never have to see my son have another spasms ever again. That is when it happened. Right before midnight Marek was drinking his bottle and in the dim light out of the corner of my eye I saw him move his arms in such a way that deep down I knew what I saw was a spasms.  But I tried to stay positive, I started pleading to God to please have that be just a shadow I saw, or my mind playing tricks on me. I turned the light on and watched Marek so closely over the next few minutes, I didn't even blink in fear that I would miss something. Then it happened, his eyes rolled up and his arms flew outward and stiffened. The damn things were back. My heart literally broke into a thousand pieces and I just broke down. It was as if I got the diagnosis that Marek had IS all over again. I had to get my mom at this point so that she could help me since it took all I had to keep it together and to help me count his spasms. For 30 minutes I watched him have spasms after spasms. This was the longest cluster he had had for weeks. I don't understand why they had to come back, why to my son? After Marek has been through so much why would God let the spasms come back?

The next morning I tried to come up with some sort of explanation as to why this was happening. Ryan told me that maybe it was just a breakthrough seizure. Many parents report having spasm freedom then they see a spasm come through and they adjust the meds. I prayed all day that this was just a hiccup. I kept trying to convince myself that his spasms weren't coming back, it was a breakthrough spasms, but I was never able to fully believe that. I had learned my lesson, guard my heart so that it wouldn't break again. Tuesday night, Marek had another cluster of spasms. It never gets any easier watching him go through this. My whole world crashes down around me every time I have to stare at him and count how  many times his small body is made to do things he doesn't want it to. IT ISN'T FAIR!

My biggest fear now that the spasms are back is that they will take away all the progress that Marek has worked so hard to gain. Marek hasn't rolled over since Sunday and he is hardly picking his head off the ground when he is on his tummy. I hope that WHEN we get the spasms back under control these skills will quickly come back.

So it has been a crappy week to say the least. I don't know what this means as far as what our next treatment will be but I am eager to find out on Monday.

We ask that you please keep praying for our little guy, this is just not fair to him.

Easy as pie...or cake

Last week Sunday, we celebrated my birthday. This was Marek's favorite part of the weekend because he was able to eat cake! He loved it! Birthdays are that much more special now that I am celebrating them as a Mommy!  I loved watching how FAST he ate the frosting. We figured that we better let him enjoy cake now because if he is on the Ketogenic diet for his first birthday, cake won't be on the menu. It was a great night, however the nurse wasn't too happy Monday morning when his glucose level was high but after explaining that cake was the reason she wasn't as worried.

Monday, the Neurologist called me to tell us he had the final report from the EEG. He gave us great news that he does not have hypsarrythmia anymore. He has what they call Epileptic Encephalopathy which means he still has a chaotic and unorganized EEG but is less severe than hypsarrythmia. Encephalopathy still causes problems of cognitive development but at a less catastrophic level than hypsarrythmia. Marek has still had spasms this week and unfortunately on top of this the Neurologist now thinks that he might be having other seizure types. We started seeing him do different movements the last couple weeks but were unsure what to think of it. I finally caught it on video and sent it to the Neurologist. After reviewing the video the neurologist feels that this type of movement is seizure activity not spasm activity. The doctors won't know this for sure until these movements are captured during an EEG. Depending on what type of seizure they diagnose him with will depend on what anti-epileptic medicine we add to our fight. We are still unsure what treatment plan for IS we will do next. The doctors really want to wait until the last day of ACTH to make that decision. We could do Prednisolone (oral steroid) Zonegran/Topamax (anti-epileptic drug for IS) or the Ketogenic diet.

This past Tuesday, we went to get Marek's vision checked. He had an eye exam last month which showed that his actual eye was healthy but he was still having trouble with his vision (the problem lies with how the brain receives the image and deciphers it) which got him the diagnosis Cortical Vision Impairment. The eye doctor wanted to measure how impaired his vision was so he scheduled the eye appointment that we went to on Tuesday. They hooked Marek up to a few leads, the same ones they use during an EEG so that they can measure how fast images are received in his brain and how much activity is going on in the Occipital lobe of his brain. He got to wear a pirate patch and all! He did a great job watching all the lights and trying to follow the objects. We will get the results in the next two weeks.

On Monday, March 23rd we will be going to get blood work done at Children's. The first set of blood workup will be for the Ketogenic diet to assess if he is a candidate of the diet. The second workup will be for genetic testing. It has taken over a month to get insurance to approve this testing.  Infantile Spasms is sometimes caused by a mutation of a gene. We are keeping our fingers crossed that the genetic testing comes back normal. Please pray for good results for Marek.

Occupational therapy came for the first time Tuesday. We didn't get much accomplished because Marek was so upset. Marek is still having a hard time on the wean. We are now at the lowest dose amount twice a day, then we step down to once a day, then to every other day. His last injection is a week from Sunday. I am hoping that as the steroids get out of his system that #1 HE DOESN'T INCREASE SPASMS and #2 we quickly get rid of the irritability. Our little guy is just miserable.

At the end of last weekend, Marek cut his first tooth. We have thought that Marek has been teething for months now but we never saw or felt anything. On Saturday night,  last week we felt his lower right tooth. Our poor guy is so tough, he is fighting so hard to beat IS and is now OFFICIALLY teething.

Physical therapy has been going well. Patti his PT was very pleased by everything he was able to do this week. Marek has graduated OFF the wedge since he can now pick his head up off the ground. We are now working on having him push up to a sitting position. The PT thought that his back and left side were getting tight so we will be stretching a lot this week and really working on his tummy muscles.

Ryan attended the church service that was put on for Marek. He said it was very moving and emotional. We thank everyone that came out to pray for our peanut at church and like always we thank everyone that has continued to pray at home.

Drum roll please................. We have reached our first MILESTONE. Marek can now roll tummy to back and back to tummy. We have noticed with Marek that if he can do something once, HE HAS GOT IT! He is rolling over like crazy, easy as pie! So proud of our Mighty Man. He is a fighter and won't let anything stop him!

A Step in the Right Direction

Our Neurologist called us on Thursday and told us that they had a cancellation for Friday morning for an EEG. I immediately took it since every day seems like an eternity to wait. So our EEG got moved up from March 12th to yesterday morning. Marek was a champ at getting all the leads on his head and during the EEG. During an EEG they want you to be able to put your child to sleep for 20-30 minutes. I was nervous for this part since our little guy really doesn't sleep when we want him to, but he fell asleep 10 minutes after we started the EEG. For the past few weeks when Marek is asleep he twitches a lot and his eyes will flutter open and shut. I have always wondered if this was seizure activity or just normal baby sleep. He had a few of these twitches and eye flutters while hooked up to the leads so I was sort of relieved that these were caught on the EEG. The whole test lasted about an hour and then we were on our way. The EEG tech told us we would have our results by the end of the day Monday.

Late afternoon yesterday I received a call from our Neurologist. He told me that he was able to watch part of the EEG and had some preliminary results for us. He told us that unfortunately Marek does not have a normal EEG (this I already knew since he is still having spasms), however he did tell us that the EEG showed improvement from Marek's previous EEG. We are taking steps in the right direction! He told us that Marek has moments of normal brain waves but his background is still chaotic. He told us that this shows Marek has had some response to the steroids. We still have a very long road ahead of us but I am staying hopeful that we are on the right path to get Marek better. We are holding at the same dose of ACTH until Monday. On Monday we will be talking with our neurologist more on what our plan looks like now that his EEG looks better. We are still taking things one day at a time because we know that the rug can be pulled out from under us at any moment. We know we have to come off the ACTH because the risk for Marek to have more serious side effects are growing higher each day he is on it. We also know that there is a high risk that the spasms can get worse as we wean him off the ACTH. Although we have lots to worry about in the next few weeks I am trying to "celebrate" our step in the right direction.

One thing I am celebrating is Marek has reached another inchstone. He has been able to hold himself up with straight arm with the assistance of his boppy pillow. This is amazing since Marek is very apprehensive of putting his hands down. He is still clenching his fists while pushing up but with a little help he will let me open his hands and keep them that way for a short time. Our occupational therapist is calling me Tuesday to set up his first therapy appointment. I am hoping we can work on keeping his hands open.


Speaking of celebrating,drum roll please......................Marek has finally hit a half MILESTONE (Yes in our home we have half milestones that we celebrate!) Marek is able to roll over from his tummy to his back. He did it for the first time yesterday and I was scared that maybe it was just on accident but he did it later last night and this morning. We caught his 4th roll on video!! I am so proud of my Mighty Man. His strength and determination amazes me. I love him so much!

Go Mighty Man Marek

Trip to Detroit

We left for Detroit on Monday around 10:30 AM. Marek was PERFECT the whole way up there. We were very scared to travel 8+ hours in the car with a baby who has been EXTREMELY irritable for the last four weeks, but he did great. He slept for the first four hours and then played with his toys for the next four. We got into the hotel around 7:00 pm. Marek took a bath in the very deep sunken tub. Actually we treated it more like a mini pool and filled it up high enough that he could just float in it. He was so relaxed to lay there and not feel the weight of his body. After baths we went to sleep so we would be rested for our appointments in the morning.

We woke up to a snow/ice storm happening in Detroit (this is just our luck). Our hotel was about a mile from the hospital but it took us 30 minutes to get there. When we got to the neurology office the receptionist had me spelling our last name three times and kept asking me if I was sure I had an appointment for that day. I started to get very nervous. I told her we drove all the way from St. Louis to see Dr. Chugani and that we were told by his personal nurse that the appointment was for March 3rd. The receptionist sent me to another office where I explained everything again and re-spelled our last name for the 10th time. The receptionist at this office said she couldn't find our appointment either so they were going to contact Dr. Chugani's nurse. I am not sure what happened but after a small panic attack that maybe we drove all the way to Detroit for nothing Dr. Chugani's nurse came out to tell us that everything is OK and that they will be setting up an exam room for us.

We met with a neuro fellow first who took down all of our current information and then Dr. Chugani came in. I immediately knew that I liked him. He has great bedside manner, he is very personable and he doesn't sugar coat anything. False hope is not something I am looking for. He has seen over 900 cases of IS and written many papers on treatment plans of the disease. We could tell right away that he is very knowledgeable about IS. He explained to us that he would have administered the ACTH with a different more aggressive schedule than our doctors in St. Louis. We asked him if we could start that aggressive schedule now before Marek is completely off ACTH but he told us it's too late in the wean to do that but doing a second round of ACTH is still an option but he suggested we try the Keto diet first. He also looked over a plan that we have with our doctors down south and made some other suggestions that we will consider.

The whole time that he was discussing things with my mom and I he kept an eye on Marek and would interact with him during the visit. He then told us that Marek seems to be very high cognitively. He said that clinically Marek doesn't present like a patient that has a gene mutation or multi focal seizure activity. He told us that he couldn't be 100% sure but he strongly feels that Marek might just have one single focal point that is causing his seizures since he is very interactive, he looks from person to person when they talk and he plays with his toys when they are given to him. Dr. Chugani explained to us that if Marek has a single focal point where the seizures are occurring and that focal point is on the left hemisphere of his brain he would make a great surgical candidate. Brain surgery?!?! On my baby!?!?! I am still wrapping my mind around it. Dr. Chugani ordered a 24 hour EEG, PET scan and a follow up appointment for us. We will not know anything more until those tests are ran. We walked out of the office feeling, dare I say, a little hopeful that maybe we have another option  for fighting IS.

We started the long drive home from the hospital around 11:30am. The roads were  horrible in Detroit still. Mom did a great job driving in the icy conditions. I was a nervous wreck in the back seat. Once we reached the Indiana border it turned to rain and the roads got better. The drive back was a lot harder than the one going there. Marek didn't sleep all that much at the hotel so we were extra tired coming home. But we switched drivers half way home and stopped for some caffeine. The good thing about traveling with my mom is that we always can find things to talk about! Marek was again PERFECT all the way home. He didn't nap for more than 20 minutes during the trip but he was content playing with his toys. I am sure  his arms had to be sore,  I know Mom's and mine were from holding his toys above his carseat so he could play with them. I wouldn't have had it any other way though. I love seeing him be so interactive.

We got home around 8:00 pm. We gave Marek his medicine and then everyone headed to bed.....for 30 minutes. Yes, Marek's new sleep schedule is to wake up every 30-45 minutes. Of course he doesn't wake up smiling, he wakes up screaming and expecting food. The last couple nights we have filled up bottles with 2oz of formula so that we aren't overfeeding him. I don't know if the wean is making things worse or the increase of his other medicine, Onfi?

Thank you to everyone who has continued to pray for our Mighty Man! We love you all!!!