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!