Holiday Season

We are hoping that all our friends and family had a great Thanksgiving and are excited to celebrate the next holiday. If you are like us I am sure you are busy running around and wondering why the "25 Days to Christmas Countdown" goes faster than the "10 Second Countdown to New Year's".  We have enjoyed doing holiday activities with Marek and watching him become interested in things kids should be interested in. He loves all the neat holiday themed crafts that his therapists have been bringing over, we took him to the Shrine and he loved looking at all the lights (he also enjoyed turning the radio station since we let him sit in the front seat while we drove through), we have seen Santa three times and he has only cried once and he especially loves playing with the wrapping paper/stickers/boxes while Ryan and I wrap gifts. Although our "normal" is a little different this holiday season we love it and APPRECIATE it so much.

A few updates on our little man:
We got the final results for our genetic testing and they came back normal. Marek is a carrier for Krabbe disease but so is 1 out of 150 males. They told us that every year they will re-run Marek's blood through the genetic testing bank to see if anything new comes up. This is because they find over 30 new functions to genes every year and there might be a time in the future that we know what caused Marek's IS but right now its not important. What's important is helping our little guy get stronger and help him learn strategies that will ease his frustrations. We are also very thankful that Marek's wean off Sabril is going well. Every day that Marek is seizure free is a miracle in our book. We are down to 12 mLs twice a day, we will drop down again after the beginning of the year. Although the doctors fight us on our theory, we strongly believe that the Sabril is one factor contributing to Marek's delays. Every time we lower the dose its like another light turns on in Marek's brain, he has become more alert, active and interested since starting the wean. We hope and pray this continues!!

Marek had his first "wellness check up" since he was 4 months old. He is 25lbs and 32 1/2 inches tall, putting him in the 75th percentile. Hey we are just happy is on the chart again! He received his first vaccine (MMR) since his diagnosis. He wasn't allowed to receive any vaccines until we were 6 months post steroids since he was still considered to have a suppressed immune system this whole time. The best part of the visit was that he has PERFECT EARS!!! We are so glad that the tubes are doing their job and keeping our little man free of ear infections.

We have finally decided on childcare for Marek since I have to go back to work in January. We are very fortunate that Marek will only have to go to childcare half the week since my sister will be watching him the other half of the week. This will allow the majority of his therapists to continue seeing him in our home and more importantly my sister will be able to videotape sessions so that Ryan and I will know how to continue helping Marek when we get home from work. We are doing a few practice runs at daycare before I go back to work. Marek will go for the first time on Monday and you better believe my nose will be pressed against the window glass all day watching. Our thought is that hopefully Marek being around other kids will help motivate him to become mobile and help him move forward in his development.

Speaking of development, words cannot describe how proud we both are of Marek. Every day he tries so hard!!!. He has overcome so much this year and his strength and determination is unbelievable. He is trying to get in and out of a sitting position, he is so close to signing "more", he is able to put object "in" (which is HUGE...we have been working on this one for a long time), he responds to his name now and he is showing progress on the army crawling front (which is the ONLY thing Mommy and Daddy want for Christmas).

Once again we want to thank everyone for all your love and support this year. Please continue to pray for our Mighty Man!

We wish everyone a very Merry Christmas and a Happy New Year (Good bye 2015!!!!!!!!!!!!!!!!!!)

Time

Time seems to be speeding ahead and we are struggling to keep up. I wish I could stop the days, weeks and months from going by so that my baby wouldn’t slip farther and farther behind. My patience is non existent these days when it comes to watching my son struggle. Our happy little guy seems to be frustrated and upset more than he is happy and content. He looks at me some times and I know he is just confused as to why his body won’t cooperate with what he wants to do. Therapy is something I cringe at these days because we don’t seem to be getting anywhere. Marek cries through PT, is mute during Speech and falls asleep half way through Vision. We just want to be able to PLAY with Marek, do things that make him laugh and act silly with him but instead we have to force him to do exercises that make him scream. I’m afraid that Marek will think of me as a mean mommy when he grows up because I am the one that is making him cry day in and day out. It’s overwhelming to say the least. However, what I have realized through this journey is that I can’t dwell on the negatives. I’m human, therefore I can’t say that I am immune to them, they definitely get to me. I have my meltdown, sometimes when I least except them and in the most public places. No matter how crummy the day is I always go to bed believing that tomorrow is a new day.

UPDATES:

Marek saw the ENT in mid October and we decided to hold off on putting tubes in for the fear of putting Marek through anesthesia until he has another ear infection. Our hopes were that he wouldn’t have one for quite some time. Well, the very next week Marek started pulling on his ear and it was confirmed he had another ear infection in his left ear. Marek is scheduled to have his tubes put in on November 18th. We are hoping that him not being sick and agitated will help with his therapies. 

When we went to the doctor’s office to get Marek’s ear checked out I was surprised at Marek’s weight, he was 23 lbs. The last time we saw the neurologist, back in June he was almost 28 lbs. Ryan and I became concerned because all anti-epileptic drugs are based on weight, so Marek’s dose of Sabril had slowly been increasing due to his weight loss. I called the neurologist to discuss this and after a long talk and weighing our options we have decided to start weaning Marek from Sabril. We weren’t going to start talking about a wean until December but with his weight loss the Neurologist wanted to start now. He was very stern on the phone when he said this will be a VERY SLOW WEAN. We will go down 2 mLs every three weeks which will take us close to a year to get him off of Sabril. We are glad we get to start weaning this drug and I personally am thankful that it will be a slow wean because I am scared to death of the seizures returning. 

Although times have been tough lately we are so thankful to God that we get to celebrate Mareks 5th month of seizure freedom. I hope and pray that we never see these monsters again.

Back in July the hospital took blood from Marek, Ryan and myself and sent it off for genetic testing. We were told that we would get the results in December. I was surprised when I heard from our genetic counselor that the results were already in. She  told us that the results were normal (Marek did not carry any of the epilepsy genes) however they did find a deletion on the GALC gene and they would like to do further testing to rule out Krabbe disease. The counselor said this in a very “no big deal” voice. She didn’t go into details about the disease or tell me much about this specific gene and what it does. So I got off the phone thinking “WOOHOO!” Then I turned to Dr. Google to learn more about Krabbe disease and my heart dropped. The first link I clicked on this is what I read:

Definition

By Mayo Clinic Staff

Krabbe (KRAH-buh) disease is an inherited disorder that destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system.
In most cases, signs and symptoms of Krabbe disease develop in babies before 6 months of age, and the disease usually results in death by age 2.

The day we found that out seems like a blur. I switched on autopilot and got through the day without a nervous breakdown. Since then Ryan and I have basically talked through every reason why Marek doesn’t have this disease and are holding on to those reasonings as we wait for the results of more thorough testing that was done on Marek earlier this week. We have contact the Neurologist in Detroit and asked if he has any reason to think Marek has Krabbe Disease based on the PET scan he ran on Marek back in July and he said he doesn’t feel he has it. We are being VERY OPTIMISTIC that Marek is just a carrier of this gene and nothing more.
As I was doing research on Krabbe disease the day we got the results I turned to Facebook to see if they had a support group since the one we belong to for infantile spasms is so helpful. They did. I started scrolling though all the posts and my heart ached for all the parents on that sight. I saw way too many “remembrance” posts than I could handle that day. Infantile spasms is an ugly beast but that day I realized that things could always be worse. My heart goes out to all the families that lost their little ones to Krabbe disease. I thank God every day, even on the worst of them, that I have my little guy in my arms to kiss goodnight.
We continue to work hard, pray harder and enjoy all the smiles and giggles Marek gives us.
I hope one day soon I can post a BIG MILESTONE but until then we will take our inchstones and continue to be grateful for the little things. 

Golfing, Chili and Fort Wayne Fun

First off, I want to say THANK YOU to Scott Hopfinger and all of the planning committee for an AMAZING job with the golf tournament. It was put together perfectly! THANK YOU to everyone who came out to play, donated, sponsored and supported Marek. We felt so loved being in the same room with everyone that has been behind Marek for the last ten months. Each and everyone of you make our journey so much easier and our dark days so much brighter so thank you for sharing so much of your love and time with our little man. 

Last weekend Marek enjoyed going to his second Chili Cook Off. He liked it so much better this year since he was able to finally sample the chili. We enjoyed seeing Nana and Papa and Aunt Lynn and Uncle Bob. Marek also enjoyed seeing all his little friends downtown.

Marek and I are in Fort Wayne, Indiana right now so that Marek can receive ABM therapy. We drove up here on Sunday. Typically, Marek is a great traveler in the car but of course this time he was determined to make a 5 hour car ride turn into a 6 1/2 hour car ride. We had to stop multiple times for food, drinks, medicine, and to put his binky back in his mouth. Although I was very frustrated with having to stop so often I did have to laugh because he would scream his little butt off until I would open his car door and then each time he would start giggling…I love that little stinker. 

We decided to pursue ABM therapy for two reasons. One was because Marek was screaming through each traditional therapy session and for two his development has stalled the last few months. He has done three lessons so far with his ABM therapist and hasn’t cried a tear plus it seems he is starting to connect more with what his therapist is asking him to do. We are still here for two more days and I am anxious to see what he will be able to do at the end of the week. Last night we ate dinner with Tanya and her son Kannon. We met the two of them through our support group for Infantile Spasms, Kannon is fighting the same battle as Marek. The boys loved playing together and I so enjoyed talking with Tanya since we have been living in the same “world”. We talked about therapies, medications and just life with the boys in general. It was a great evening.

Happy 14 Months Mighty Man

Wow this month is just flying by! I can’t believe it has been three weeks since I have posted an update. 

I don’t even know where to begin.

Marek has been a very VERY busy little boy. We have added even more therapies to his schedule to help him move along in his development. He is now receiving speech therapy through Early Interventions. He will be getting speech therapy two times a month. We also have AMAZING friends who love Marek and have been willing to take time out of their day to help Marek out. Kari Lane and her cousin Katie Speichinger are such wonderful people and have started to co-treat Marek on Wednesday nights. Kari is a Speech Therapist and Katie is an Occupational Therapist. He had his first sessions with them this last Wednesday and loved it. They worked on saying and signing “more”. Marek was on cloud nine since he was rewarded with food!!! I’m telling you the kid can EAT! 

 We have also started ABM therapy here in St Louis and will also be traveling to Fort Wayne, Indiana to see another ABM therapist. I have had many people ask what ABM therapy is so I included a link to a video to help explain it. We have been at a stand still with Marek using his arms so we have been thinking outside the box to see if other forms of treatment might help make things click for him. He is also going to see a chiropractor next week as well as a nutritional counselor since I haven’t been overly excited with his nutritionist he has been seeing through Early Intervention.

Lastly, Marek has started Music Therapy on Saturday mornings over in St. Louis. This program is offered through his vision service, Delta Gamma. We went to our first session yesterday and I was amazed at how interest and MOTIVATED Marek was during his time there. The kids worked on body part recognition and turn taking and this was all taught through song. Mark’s favorite part was when his teacher handed out the instruments so the kids could play along. 

Needless to say Marek AND MOMMY are quite tired when the week ends, but I wouldn’t have it any other way. I am hoping that things will start clicking for him soon and he can start putting all these different therapies together to help move him forward in his development.

Since the lovely state of Illinois is struggling so much financially we have been pushing for our insurance to pick up Marek’s orthotics. We finally got approval so Marek will be going to get casted for his orthotics on Thursday. I think this will really help because right now he loves to stand with support but his ankles just roll outward so much that it makes it hard for him to stand for long periods of time. Speaking of the lovely state of Illinois, for those of you not on Facebook, last week was pretty hard on us. Our PT who we love so much gave us her 30 day notice telling us she can no longer see Marek since his Early Intervention is through the state. The state has not paid their Early Intervention therapists since June. I can’t blame our PT, she had been seeing Marek for four months without seeing a penny. Beside myself, I posted on Facebook asking friends and family to please call their local representatives and our governor to push for EI funding. The next day was also a state wide call in day which greatly helped get the message to our government. It was posted that every representative’s mailbox was full across the state. WOW!!! That afternoon the comptroller’s office put out a letter that said that they will start funding EI ASAP. Our PT sent me a message last night saying she is optimistic that she will be able to continue to see Marek. I am hoping that money is dispersed quickly!!!! THANK YOU to everyone that took the time to call in, write emails, and help spread the word, Marek and every child who receives EI is grateful!

Ryan had been traveling for work the last two weeks. He was working down in Arkansas and this was his first weekend back. He will be starting back to work Monday in his OWN local, woohoo. I am so glad he is back. I loved all my one on one time with my little guy but it was a lot of work and I am glad Ryan is back to help out. I have to thank my little sis once again for keeping me company and helping out with Marek while Ryan was gone. We spent this weekend as a family at Eckert's and downtown Belleville at their Oktoberfest. It was great being THREE again. 

Last but not least, HAPPY 14 MONTHS to Mighty Man Marek. Keep fighting little buddy, each battle you win gets you closer to winning this war.

EEG Results

Last weekend Marek started having what we were calling “head drops.” While he was playing all of a sudden he would drop his head to the right as if his neck muscles just gave out. We know that spasms sometimes present as head drops so we video taped the movement and sent it to Marek’s neurologist asking if he thought it could be seizures. He told us that he would like to run a 45 minute EEG to see what is going on. So last Thursday we went to Children’s at 7:00 am for an EEG. 

Our Neuro called us and told us that the movements were NOT seizures which is outstanding news! Marek is still seizure free!!! His neurologist did tell us that Marek’s EEG looks very similar to the EEG he had done in Detroit, they didn’t see any spiking this time however, they did notice that he had slower than age appropriate brain waves. We are unsure at this time what this means. We are waiting for an epileptologist to read his EEG. We don’t know what is causing these slow brain waves, whether it is a result of having Hypsarrythmia, a side effect of all the anti-epileptic drugs Marek has been or the fact that he is still delayed and is playing catch up developmentally. We are hoping that will have answers for us soon. 

The important thing is Marek is NOT having seizures and that he is still making advances each day in his development. The doctors are not going to make any changes at this time to his treatment so we are thinking that this new finding isn’t an urgent matter. 

Thank you for everyone who sent extra prayers that day for our mighty man. They were ANSWERED!!

Keto Cancelled

Oh man what a crazy couple of days. 

On Thursday Ryan was on the phone with one of the parents we met in the hospital who has a daughter that is on Keto, so he was talking to him about tips and hardships of the diet. As he was talking, my phone rang and it was Marek’s neurologist from St. Louis. He started the conversation by saying that all his doctors at St. Louis (his neurologist, epileptologist and the head of Keto) have been discussing Marek’s case and they are not 100% sure that Keto is the next step we should take. But in the same breath he said that the have never had a case like Marek’s so we would do Keto and see how it works with a child like Marek. My jaw hit the ground. I was so confused since two weeks ago we were at the doctors office in a room with all three of them and they were 100% for the diet. So when did this thought pop into their head that maybe Keto wasn’t the best idea and why are they letting me know LAST MINUTE!??!

Our choices were as follows:

Option A - Start the diet which comes with its own risks (kidney stones, acidosis, cholesterol problems, GI issues etc) and then if Marek seems to be handling the diet okay in a month or two we can start weaning Sabril.

***This is what we thought was the plan all along. However, while talking to his doctor he said the reason why they are not sure about the diet is because A. Marek is doing so well and “if it’s not broken don’t fix it.” And our wish to get him off the medicine as soon as possible did’t seem so “safe” after the doctor told us that Sabril is much more effective than the diet at keeping seizures away so even if we had the diet under us while weaning Marek off of Sabril in a month there was a possibility the the seizures could come back. For those wondering why we would want him off of Sabril, the drug is known to cause developmental delays so we know he already has an uphill battle with his development because the damage the seizures did plus all the steroids we didn’t want him to have to work even harder to reach his milestones. BUT, nothing, NOTHING is worse than having the seizures come back so we listened to option B.

Option B - We “stay the course”. Marek will remain on the same dose of Sabril until December (which seems soooooo far away) and at that point we will see if he needs a “maintenance medication” as we slowly start to wean Sabril. This is all dependent on the fact he remains seizure free. If the seizures come back there only one game plan, and that’s Keto. 

As I was getting off the phone with the doctors at 4:30 pm he told me that the decision was completely up to us and that they will support us (but not guide us) either way we choose and the kicker….he needed our decision by the next morning. 

SERIOUSLY. Let me use my doctor degree and decide my child’s medical future in a few hours. My blood was boiling. I relayed the message to Ryan which led to a night of emotional discussions. We really felt like it was a coin toss and that either way there are negatives and positives. Our stress level was at a 10. Every time we thought we had our decision made one of us would bring up another point and we would be back in the middle again. I was so angry that us, as parents, had to make this decision. Yes, I want to be a part of every decision made on my son’s behalf but I want the doctors to be confident in the choices they put before us. I didn’t feel that they were confident in starting Keto. 

After a night of back and forth, and a few margaritas to settle our nerves. We decided that if there wasn’t an overwhelming chance that Keto was to be our magical cure, then we weren’t going to put our son through it. So as of now we are “staying the course” and hoping that Marek continues to make strides in his development and the icky seizure monsters stay away…FOREVER!

Countdown to Keto

Marek only has a few days left to enjoy all the food goodies he wants. He has had pancakes with syrup, ice cream, donuts and much more. He loves food now and It’s going to be hard sticking to the strict diet, but that’s what needs to be done. We have been trying to gather everything we need for the diet before we get admitted on Monday. Since the slightest changes in carbs/sugars can mess with how successful the diet is we have to change Marek’s shampoo, lotion, sunscreen, bug spray and hand sanitizer. We also have to change all Marek’s medicine to the pill form so that we can crush them and dilute them in water since many liquid medicines have high contents of sugar. We have bought special bibs, containers and spatulas so that we can get every little drop of food out of the containers and are able to capture any food that spills and get it into Marek’s mouth. Strict, Strict, Strict! Lots of changes to be made! Marek has been extra crabby these last few days so we took him to the doctor today and sure enough his ear infection that he has two week ago is still there. So he was  prescribed a stronger medicine (in pill form of course) and our fingers are crossed that it gets cleared up quickly. 

Marek was evaluated for Speech on Monday. We have not heard whether he qualified yet (but we are expecting that he did). We should hear by the end of next week. I was pleased with the evaluation. Its hard when a therapist only gets a 45 minute snap shot of what your child can or cannot do. I would say overall Marek demonstrated all his strengths. 

 Operation crawl is off to a slow start. Marek HATES putting weight on his hands so we have a lot of meltdowns that happen during therapy these days. It is frustrating for everyone because these are skills that come “naturally” to babies so it is difficult to teach skills that should practically be “reflexes” like if you were to fall you put your hands down.

I am happy that Marek will have “two full time therapists” (Mom and Dad) at home for a few weeks. Ryan, unfortunately, got laid off last Friday. We are hoping he isn’t off for that long. We are taking full advantage though of having him home and making Marek work twice as hard. It is nice having a second set of hands for all the therapy exercises. Although crawling is off to a slow start, Marek did accomplish a milestone today. HE FED HIMSELF for the first time. We are so excited! GOOOO MAREK!!!

August....ALREADY!?!?!

I can't believe it is already August! 

Marek has had a rough couple of weeks, but this time with "normal" baby issues. I took him to the doctor last Thursday and he was diagnosed with Croup and an ear infection. Ryan and I both got sick after that but all three of us bounced back after a few days. Marek is also cutting two more teeth so that is making him extra crabby these last couple of days, however we absolutely welcome these "normal" baby troubles. I hope and pray that is all we ever have to encounter from here on forward. 

Marek's nutritionist came to the house for her first official visit last week. Since Marek is slowly weaning off many of his medications (we will only be staying on Sabril) the nutritionist felt that Marek would benefit from a detox. She said that this should help rid his body of any remaining side effect from the AEDs that he has been on for the past few months. She said that this should improve his energy level as well as other areas. We have already seen an increase in his energy and its only day 5 of his 15 day detox. He is able to play for longer periods of time and in my opinion, with more strength. Marek is also on supplements for his immune system which I am very happy about since it won't be until December when his immune system is back to full force. And last but not least Marek is on a protein supplement since he hasn't been eating any solids for the last month and a half. This is starting to slowly change for the better as well. With the help of OT Marek has been able to finish one jar of baby food a day, TWO on a really good day. Along with all the supplements, the nutritionist has helped Marek wean off of formula. He took his LAST formula bottle this morning. He is now on only coconut milk since the nutritionist felt that cow's milk is too hard on his GI system. Our peanut's body has been put through so much from all these meds over the last 8 months that anything we can give him to improve his sensitive system the better. 

Marek has been working hard at therapy every week and with his improved energy system it is really nice to watch him "enjoy" playing with his therapists and having fun. The biggest improvement I have seen Marek make is with his fine motor skills. His OT has come up with some very motivating activities to help Marek with his grip strength and with his hand-eye coordination. Last week Marek was able to take all the velcro shapes off the container with BOTH hands and he was able to get all of the small "cat toy" balls out of the dish. This is huge because for the most part Marek just bangs or swats at his toys and occasionally he will reach or grasp for things but I have never seen him focus and use his hands for long periods of time with a purpose. I only wish that we could see these huge gains in PT as well. His gross skills are not moving along as quickly as we would like. His PT did change his stander around so that now Marek stands with his belly forward almost as if he is "falling forward." This is supposed to work the muscles in his back which we hope will make it possible for Marek to transition from the laying down position to sitting and vice versa. 

Marek has his 6 month IFSP review on Thursday this week. This is where all his therapists (OT, PT, DT, Vision, and Nutrition) come together and review his goals that we

made back in February when he started his therapies. If he hasn't mastered a goal then we will roll it over to the next 6 months goals. Any goals that he has mastered will be replaced by new ones that should take him through February 2016. Since his PT won’t be able to make it to the meeting (her daughter is having surgery that day) she has already shared with me that Marek met ALL his PT goals. She said the next 6 months will be dedicated to OPERATION CRAWL.

All of Marek’s therapists do a great job with him, the only downfall to all the therapy that he gets is that he isn’t around other kiddos that much. So Ryan and I decided to sign Marek up at the Little Gym in Edwardsville so that he can socialize with other babies as well as get a “workout” in. Friday was our first session. Marek did great! He did backflips over Mommy, sommersaults down the cheese wedge, he swung on the bars and bounced on the air mat! IM NOT KIDDING he did all these things in one morning. The best part was he was fascinated by all the other kiddos crawling around, babbling and cruising around the gym. I am hoping that by seeing others his own age doing so much he will start to want to become mobile. 

 I can't believe that we have an official date (as long as insurance cooperates) to start Keto. We will be admitted to the hospital August 24th, that will be the day that they do a repeat 24 hour EEG so that they have the most recent baseline of Marek's background activity to compare to as we move forward with Keto. We will be in the hospital for a week while they initiate the diet and monitor how Marek's body responds to it. We are hoping that his will be the final battle we have to endure to get rid of IS forever. 

Ryan and I are so happy that Marek is where he is, we know that things could be so much worse for him and we are so hopeful that he is on the right path to beating this demon. As parents we still feel we are on the roller coaster ride from hell with him. We still have a lot of ups and downs that we encounter. For example, last week we went to take Marek for a bike ride and we thought that since he had been doing so well in the sitting position maybe he could sit in his bike buggy by himself instead of us having to put the carseat in the buggy. Well halfway through the ride Marek was doubled over with his head almost hitting his lap and the straps were rubbing against his shoulders so much that he had huge red marks. Of course we were not anywhere near our house so all we could do is lay marek down in the back of the buggy (with no seatbelt on) and peddle slowly back to the house. That night led to many tears and feelings of defeat. It’s little things like that these that tend to set Ryan and I over the edge but we know that we have to keep moving forward and wake up each day with an attitude that Marek will be strong enough to do these things some day. So yes, this roller coaster ride SUCKS and the ups and downs are rough but right now we are hoping that all the steep drops and corkscrew turns are behind us. One day this ride will come to a screeching halt and our feet will be safely

back on the ground.

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!