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!!!