Summer Milestones

It has been so great to be home this summer. I feel that I have been able to really learn from Marek's therapists and in return push Marek as much as possible. He hasn't had a relaxing summer that is for sure. He has the same therapy schedule as before with a few changes. He is graduating out of vision therapy since his therapist feels that his vision is not inhibiting his development at this time. She will evaluate him again in 6 months to see where he is at. She said that sometimes when kiddos start to walk they need help using their different planes of vision. We are sad to see Ms. Becky leave us for now but that only means things are going well. Since we are stopping vision his speech therapist would like to start seeing him more which we agree would be very helpful since we are starting to hear more and more sounds each week. He has dada, baba, papa and my favorite MAMA!!! He has also learned the sign "eat" and has stopped using the "more" sign since he now TELLS US that he wants "MO". You better believe that we never deny him "MO" when he asks for it, even if that means a whole bag of Gold Fish. Marek has also been doing swim lessons which has turned him into quite the water baby, or should I say toddler since he will be TWO next week! He is kicking in the water, trying to blow bubbles in the water and has learned to "jump" in from a sitting position after we count to three. It has been a pretty warm summer in St. Louis so I am glad he likes the water because some days that is the only place I want to be.

Marek's Thank You Bash was a blast. We were so excited to see so many of you there and be able to spend time with you and to thank you for all of your support. Although Marek had a rough night, we know that he enjoyed seeing each and every one of you as well. God has truly blessed us with an amazing village that is constantly praying and cheering for our little warrior and it has paid off. I know we have said it many times, but THANK YOU, THANK YOU, THANK YOU!!!

The weekend of the party we got to share some exciting news with our family and friends, Marek is going to be a big brother! I truly believe that he has so much to offer his new brother/sister and we can't wait for the two of them to meet in December! There are tons of emotions that come with finding out you are expecting a little one after going through all that we have with Marek. We waited for all the genetic tests to come back normal before we even let the thought of expanding our family enter our minds. Even with all the normal tests though, we know that there is always a chance that something could come back. At this point it is a thought I try to keep from popping up in my mind while I try to enjoy being pregnant without fear taking over.

Marek saw his neurologist in the beginning of June. This is the last time we will meet with this neurologist since he is transferring hospitals. We will not be seeing the Epileptologist only from here on out. We met with him after meeting with Marek's neurologist. He has scheduled a MRI scan for Marek the beginning of August to see if we can finally see any correlation between what the PET scan showed and any physical malformations in Marek's brain. We had to wait until he was 2 because until a child is 2 their brain is still "mush" (yes this is the term the doctor used) and it is hard to pin point malformations. Marek will have to be sedated for the MRI which always scares us, but he is such a trooper I have to believe that he will be just fine.

We have continued to come up to Fort Wayne every month. Ryan was able to spend a week with us last month. I was so happy he could make the trip because I wanted him to meet his ABM therapist, Jon, and see first hand just how great Marek does during his sessions. We turned our therapy trip into a mini vacation which included strawberry picking, ice cream stops and park visits. It was nice to get away as just the three of us, even if it was only to Fort Wayne. My mom was able to make the trip with us in May and again this month. It has been so nice having some "adult" company and lots of help during our summer trips. Thanks Mom!!

Marek reached a HUGE milestone during the last few days...................he is now CRAWLING!! We have waited so long for him to finally be able to do this and I still have to pinch myself every time he gets up on all fours and takes off to where he wants to go. My heart is so full right now it is ready to burst.

We hope that everyone is enjoying their summers and are staying cool.

Happy Father's Day

I’m going to take the time today not to talk about our little peanut but to talk about my husband.

 

Today is Father’s Day, and while everyone has already gone out and bought their Father’s day cards I couldn’t bring myself to buy one this year because they honestly didn’t describe, sum up, or speak to what kind of Dad you are. So I decided to steal our son’s blog and write my own.

I remember the first time you met Marek in the operating room, I had to watch your face since I couldn’t see anything over the drape. I knew the second you laid eyes on him because they lit up with pure joy, you could barely get out the words, “It’s a boy!” That moment will forever remain one of the happiest moments of my life, and I knew right then and there that you were going to be an AMAZING father.

I wish all of our days were that joyous but I have also watched you go through hell with our son. I have had my crappy days when dealing with all of this, whenever Marek would hit a low point I felt like I was drowning in heartache. However, when  I saw you hit a low point I felt a whole new kind of burning heartache, one that takes your breath away. I don’t know if it was because you were so much stronger than me with keeping it together and I rarely got to see you have these low points, or that I felt more helpless because I couldn’t help our son or my husband in their time of pain. I’ll never know what made my heart break so much on those few nights that I saw your emotions exposed. What I do know is that I saw a man that would give up ANYTHING for his son and that his happiness depended on the happiness and well-being of his son which makes you the best father for Marek.

Marek is so lucky to have a dad like you. You have shown him so many things these last two years without even realizing it, but I have. You have shown him how to be strong. I’m sure you never thought twice about this, but every day that you went to work while Marek was at home with me because you knew that you had to in order to give Marek the best medical care possible, proved just how strong you are. I commend you for having the strength and focus to do so because emotionally I couln’t leave the house. You have shown him how to be caring. You will never know how much it meant to me when you would hold me when I felt like the world was crashing down on our family after Marek’s diagnosis and tell me that everything would be okay. You have shown Marek how to love, through the love you have given him. He adores you and I see it every day, he makes sure you are watching when he does something new, he lights up with laughter when you come home from work, and HE IS ALWAYS SAYING YOUR NAME! So although our little peanut might not be talking he watches EVERYTHING and through your actions he is learning how to be an extraordinary person.

You have had some terribly low times being a dad so far but I think that this year has blessed you with the happy times that you deserve. What sets you a part from most dads is that you notice and APPRECIATE the little things. (Probably the only gift that has come out of this ugly rollercoaster ride we have been on). I love when I get to see how Marek makes you laugh like when he is surrounded by 100 toys but the only thing he is interested in is the cell phone you are on and won’t leave you alone until you give it to him (which you always do). I love how you laugh when Marek decides to throw almost all of his cut up spaghetti on Olive Garden’s floor, and keep laughing while you’re on the floor picking it up. Most of all I love how Marek’s laugh makes you laugh and then you both end up laughing harder. There has been way to many tears shed in our family since Marek’s diagnosis and I am glad they are finally

being replaced with smiles and laughter.

Happy Father’s Day hun, we love you so much!!!!!!!

On a roll!!!!

There is no stopping him.

Marek’s development has been soaring lately! I am a true believer now that the medicine he has been on has been holding him back. Every time we drop the dose he connects more with us, his therapists and life around him. We are currently on 6 Mls of Sabril (we started at 30 Mls). If all goes well Marek will be medicine free in May! We are excited to see how he will be after all the medicine is out of his system (a little scary, but we are staying positive that the path we are down now will be filled with sunshine and lots and lots of MILESTONES!). At the end of February, Marek sat up for the first time all by himself. It was a struggle, but with lots of grunts he was able to push himself up from lying on his back. Since then he has learned how to get out of a sitting position, side sit and push himself into a sitting position from being on his tummy. Just yesterday he learned how to scoot on his butt backwards. He understands a lot of small requests that Ryan and I are asking of him. He has learned another sign which is “please” and we are working on “all done” "eat" and “no”. Now that Marek is finally using his arms we can focus on his legs. We got to Fort Wayne yesterday morning for Marek’s first WEEK LONG therapy sessions. All the other times have been roughly three days. I am excited to see what Jon (his ABM therapist) can push him to do now that he has more body awareness. I am also very thankful that my dad was willing to drive with me to Fort Wayne yesterday only to fly back last night. Marek hasn't been the best travel buddy these days. He makes it about an hour before he melts down unless someone is entertaining him in the backseat. So THANKS DAD!!!

As Marek gets stronger and more mobile we are finally getting to “worry” about or maybe a better word is “enjoy” some regular obstacles. He now sits up in his crib so that means that anything around his crib has become accessible to throwing and pushing down. It took us a few nights or “bangs” and “crashes” to realize that we need to move everything away from the crib and lower the mattress. Marek also has learned how to open cabinets and drawers which means we have had a few pinched fingers in the last couple of weeks. Our biggest “normal” obstacle we are facing is his meltdowns when we tell him no or when he can’t figure out how to do something. The closer we get to his second birthday the more we see, but deep down we love it because it means he is cognitively aware of his surroundings and what we are saying to him. 

Easter was a lot of fun this year. Marek participated in opening his baskets from everyone and his Nana and Papa helped him color Easter eggs. His favorite part had to be the food. MAN THIS KID CAN EAT. We have removed all of the restrictions from his diet and he has discovered the world of “kid snacks” and loves it! Ryan and I are thankful that mealtimes can return to normal now that he can have whatever we are having instead of having to prepare something special for him. 

As the weather warms up Marek is enjoying all the outdoor activities. He loves going for wagon rides, bike rides and blowing bubbles outside. I can’t wait to get him in the pool this summer and see how much he is able to do in the water. Ryan and I try to find one thing each weekend that is “Marek friendly”. It is a struggle some times to find places that we can take him where he can enjoy the activities even though he still can’t walk. We have found that the Magic House in St. Louis is a great place for him. He was able to play with all the ball activities, the lighted sandbox, and enjoy all the musical toys that they have. We also ventured out to the Incredible Pizza Company which has a section for small kiddos and Marek was able to enjoy a few rides. It took him a few tries to warm up to the idea of going on the rides by himself but by the end of the night he was signing “more” every time the rides stopped.

My Little Valentine

 I am always so surprised when I log onto Marek’s blog and see when the last time I posted was. There are so many days that I wake up and tell myself, “today I’m going to update the blog,” and yet, by the end of the day, after putting Marek to sleep I basically fall face first into bed and forget that I even had that thought so many hours ago. Ryan and I run almost every day with Marek. We have Speech three days a week, ABM therapy in St. Louis every other weekend, Doctor's appointments, Orthotics' appointments and ABM therapy in Fort Wayne once a month. I guess I shouldn’t be so surprised that I don’t update the blog as much as I would like.

Last month Marek got an EEG because he was doing some odd movements that Ryan and I were concerned about. The results showed some good things and some not so good things. The good news was that all the strange movements Marek was making were NOT seizures. We were very thankful for those results, because that by far was the most important news. I wish that I didn’t have to second guess every little movement that Marek makes but given his diagnosis we have to question everything because we never know what is going on in our little peanut’s head. 

The downside of the results was that his EEG was not normal. This was the first time that the EEG showed both spiking and slowing of his brainwaves on the same EEG. The neurologist didn’t really go into depth on what the slow brainwaves meant at this point. He just said that there is a set speed that brainwaves should travel at given an individual’s age, and Marek’s brainwave speed is below that set speed for his age. We are not doctors by any means, but Ryan and I feel that since Marek isn't developmentally at his chronological age it makes sense that his brainwaves wouldn’t be at that speed either. We are hoping as we come off his last medication and he keeps gaining skills maybe one day his brainwave speed will be age appropriate. The spiking on his EEG means that a seizure can happen at any moment. They said that a spike is like a small spark that would ignite a fire, the fire being a seizure. Marek has been successful at keeping the sparks from igniting but we are unsure if that is due to his own brain’s ability at keeping them at bay or the help of a still pretty hefty dose of Sabril. Only time will tell as we wean of the medication if he can truly be medication and seizure free. 

Marek had his one year evaluation the middle of January for early intervention. Last year when he was first evaluated after his IS diagnosis he was 5 months old and tested at a 1 month level. At his one year evaluation he was 18 months old and tested at a 7 month level. It was a rough day to sit there and listen to all the things that Marek is still not able to do. It’s hard knowing that he is still so far behind but I am thankful for each and every little thing he CAN do. 

New things that Marek can do:

• Give kisses
• Army crawl on all surfaces (at first he could only do it on our hardwood floor)
• Give High Fives
• Pivot in circles while on his stomach
• Take his sock off
• Signs “more” for EVERYTHING

He has accomplished a lot in the last month. Although we always wish he could acquire skills faster, we take the time to celebrate each little inchstone. I think as time goes on family, friends and even ourselves start to think that things are “all better.” Most of the time we live in our new “normal” without thinking twice about Marek’s limitations. I feel that we are able to not think about the negatives so often because we honestly live in a for a lack of a better term a sort of bubble. When its just the three of us and our families we focus on the things Marek CAN do. However, there are times that we have to venture out of our safe circle, for Marek’ sake, and we find out very fast just how hard it is to go out in the real world. Ryan and I always try to think of things that we can do with Marek since we know it is best for him to go out and discover new things and be around other kids. 

Last weekend I had a great (soon to find out terrible) idea, lets take Marek to Monkey Joes. My thinking was that he could play on the inflatable bouncers and we didn't have to worry about him throwing himself backwards and hitting his head on something hard. The second we walked into Monkey Joes I regretted my idea. Seeing all the kids Marek’s age running around, bouncing on the equipment yelling for their parents was like a sucker punch to the gut & heart. There was no way Marek would be able to play on the equipment without being trampled. We were in there for three minutes before turning around and leaving. I couldn’t get out the door fast enough. I barely made it to the car before tears rolled down my cheeks. I could tell Ryan was upset too. It sucks when we realize all the things that Marek is missing out on, and selfishly what we are missing out on too. Its hard to be around any kids; family, friends, strangers etc. because it is a very, in our face, reminder of what Marek struggles with. So back in our bubble we have gone until we have enough strength to face our next outing. 

Marek and I are in Fort Wayne this week. This time we are here by ourselves since Kourtney went back to Marengo to help my mom who just had knee surgery. Marek’s ABM Therapist, Jon, was very pleased to see how much Marek has progressed since our last trip up here. I love getting to spend one on one time with my little peanut. We have a lot of down time between his therapy sessions so we went to the book store where Marek picked out a few books he liked, we have gone out on a bunch of lunch/dinner dates and Marek even went on a train ride. 

As Marek gets older and develops new skills it is fun to do new things with him but as he gets bigger I am finding it more and more of a challenge to go places alone with him. He is at an age where he doesn’t like to be in the car for more than two hours, which makes this 5 1/2 hour trip to Fort Wayne very interesting. As he gets bigger so do his lungs, I'm telling you that boy can SCREAM. Its always a challenge to get in and out of the hotel since Marek can’t stand or walk and is too big for his carrier my only option is to hold him while bringing each bag in from the car. And maybe this is sharing too much, but its a definite struggle when we have to take potty breaks on our long car ride. I can't leave Marek in the car and he can't stand by himself so when Mommy has to use the potty the only place for Marek is on my lap. These are the challenges I never thought I would have to think about but having a non mobile 18 month old makes some days very interesting. However, in the end, it is all worth it as I sit and watch him do new and exciting things through ABM therapy. 

When we get back to St. Louis we will be making the change to a new childcare place for Marek. His last one is just not working out how we had hoped it would. It seems that Marek was too much work for them and they didn’t want to follow our wishes as parents as well as his therapists' recommendations. Marek also HATED going there so our hope is by starting at a new daycare they will be more willing to help Marek and in return he will be happier going there.

Although I am counting down the days until summer I have a new appreciation and love for the snow. Mighty Man was able to enjoy  his first sled ride with Daddy before we left for Fort Wayne on Sunday. He loved it and it made the perfect ending to our weekend. Hope everyone had a great Valentine’s Weekend spending it with those you love. 

A New Year

Hello 2016! 

A new year brings new hope!

 We hope everyone had a great Christmas and New Year! Our Christmas started off a little rough, the stomach bug made a visit before Santa could and left all three of us sick to our stomachs. Luckily we all bounced back pretty quickly. Marek loved Christmas this year, and it was such a joy watching him get excited about new toys. He was able to open his own presents this year with a little direction from Mom and Dad (since he found each piece of wrapping paper he ripped off THE MOST FASCINATING THING EVER!). The fact that Marek would get excited about certain toys is HUGE, if we saw that he was extra interested in something we would open it up right then and there and play with it. The big winner this Christmas was BALLS! He has discovered how to play with them by taking turns rolling balls back and forth to someone. It always gets him smiling.

Marek must have been a very good boy this year because he was blessed with so many gifts, however I think that the gift he gave us on Christmas was by far the best gift of the season. He said "dada" for the first time! Ryan was feeding him in the kitchen when he thought he heard it, but wasn't a 100% sure. Later, he brought him into the bathroom to give him a bath, I was doing my hair in there when I heard it. I almost burned myself with the curling iron because I got so excited. We heard him say it for the next couple of days but then he took a break and just this weekend picked it back up again.

Our New Year's Eve was perfect in my eyes. We went out to dinner, just the three of us, then watched a Netflix series together. Marek was asleep by 8:30 and Mom and Dad shortly after, around 10:30. I did however, set my alarm for 11:50 to wake us up. Ryan and I rang in the New Year with a champagne toast.....then went right back to bed!

Back to work!

I survived my first week back to work. It was a bit overwhelming to say the least. Marek did great at daycare the two weeks before Christmas and I was hoping that would continue over to my first week going back to school. Monday morning went smoothly, which I was very thankful for, but Tuesday was a different story. I set him on the play mat and put his things in his cubby and when I went to kiss him goodbye and walk away he started crying. OH MY GOODNESS! It took everything I had not to call in sick that day and take Marek back home so we could spend the day together. I gave him an extra kiss and gave him to his teacher as I quickly exited the building with tears in my eyes. That was a rough morning, but I called to check in on him at ten and they said he was doing fine. The good report helped me make it through the rest of the day. The next three days my sister, Kourtney, took care of Marek here at the house which took a lot of stress off of me. She knows the therapy exercises he needs to do, pushes him to try new things, and best of all he doesn't shed a tear when I leave him with her. Thanks again for being such a terrific Aunt!!

Marek has gone down yet again on his Sabril dose. We are at 11 mls twice a day. Like I have said before, each step down we see things starting to click for him. Right after Christmas Marek started to ARMY CRAWL! It started off with moving forward just an inch and now he can make it halfway across our living room floor. He had another session of ABM therapy this weekend and his therapist said this is the best he has ever seen him and was even able to assist him in getting into a crawling position and Marek held if for 30 seconds. 

We are keeping our fingers crossed that 2016 continues to offer big things for our Mighty Man.

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.