Four days of steroid freedom

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

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

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

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

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

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