Keep On Keepin' On

I am exhausted. I feel like I am on a hamster wheel - running to keep up and never getting anywhere. Everything is just starting to take such a toll. Just when we think things will settle down, something else happens. Fortunately, Dominic did not need to be admitted on Sunday because he didn't have any more seizures. However, we have had a horrible past couple days. He didn't nap at all on Sunday and by 5:00 was just a disaster, crying constantly. He crashed and slept well that night but then didn't nap again at all yesterday and was once again a disaster by 5:00. I was hoping he would sleep well last night since he was so overtired, but no. He was basically up from 1:30 am until I finally just got up at 6:30 am. The only thing that would calm him down was nursing or holding him. The minute I set him down he went into the no scream, breath-holding cry. I had no idea what is going on with him. I took the boys for a long drive this morning and he FINALLY fell asleep at 10:00. I called the neurologist office to see if it's from all the meds and they said probably not but to have him checked out by his pediatrician. Thank God I did! I took him in this afternoon and he has a double ear infection. This explains the seizure activity, as well as the crabbiness and sleeplessness. So, we're on antibiotics and hopefully he'll start feeling like himself again. On a good note, he did try solid food for the first time today and loved my sweet potatoes and peas. I'm excited about this but I'm also remembering what a daunting task making baby food is.

We also had his PT evaluation yesterday and found that besides adding PT once a week to our busy schedule, he will need to wear a helmet and compression suit. The helmet I get, his head is getting flat in the back. It's not horrible, but since he's delayed, he'll be on his back quite a bit longer than most babies his age since he doesn't have the strength yet to roll or sit up. So it could potentially get much worse. So, might as well nip it in the bud now and hopefully he'll only have to wear it for a few months. The compression suit is something he will wear under his clothes. It's supposed to stimulate his muscles and make him more aware of his body, since a lot of his weakness is from a delayed response from his brain to his muscles.  But the poor thing, it sounds to me like having to wear a girdle 24/7. I would hate that. But, we'll do whatever we can to help move his development along.

I have felt like this before, but it just seems like one thing after the other. The poor kid has been on so many different meds and how he has to wear a helmet and suit and potentially glasses. Is there anything that isn't wrong with the poor guy? I just feel so sorry for him. But I have to just keep hoping and praying that this will eventually come to an end and life will return to normal, or some version of it.

Seizing the Day Away

We had sort of a rough weekend. After Dominic had two simple partial seizures last Monday, we thought we had them under control with the higher dose of Keppra. Unfortunately, Saturday morning I woke up to Dominic screaming. I went in and found him in his crib having a seizure.  I thought it was probably just a fluke and gave him a little extra Keppra, as instructed by Dr. Arndt. He had another one at 10:30 and another one at 1:30 before I finally called the neurology clinic. The doctor on call said to give him a Clonazapam tablet, which are used to stop a series of seizures and to call back if he had more. He was okay the rest of the night, a bit sleepy and lethargic, but no more seizures. We had him sleep in our room last night to make sure he didn't have any more. He woke up and had a seizure at 4:00 am and then again at 7:30. I called the doctor again and he said to give another Clonazapam this morning and then again this afternoon. If he continues having seizures, he'd have to go into the hospital and be given a med load through an IV. He had another seizure at 9:30 am but not one since. Hopefully we are in the clear. But, should we need to go into the hospital, I'm having them page Dr. Arndt ASAP.

Here is a video of one of his complex partial seizures. His eyes have never done the back and forth thing before, I'm not sure what that means. Please ignore the commentary, I take these videos to show the doctor and don't mean to talk so much when it's happening, I just freak out. I am planning on talking with Dr.Arndt tomorrow. It looks like we'll have to change up his meds, the Keppra doesn't seem to be working anymore. I'd love to go back to Topamax since that kept them away for months, but they gave him kidney stones. Don't want to make those worse. Hopefully we have a better night  tonight than last.

The Good, the Bad and the Good

Another busy week! We spent Monday in Ann Arbor seeing the metabolic specialist who thinks there is maybe a 1% chance he has a metabolic disorder. None of his labs point in that direction and physically he does not present like a child with a metabolic disorder or mitochondrial disease. Of course, there are thousands of disorders and he hasn't tested for every single one. He said if we wanted to exhaust every test there is, he would do it. But it will require more spinal taps, blood work and muscle biopsies. To be honest, I am a very Type A person. I'm a list maker, control-freak and I like to have answers. So, in most cases I would say yes - let's figure this out. But with a 1% chance, I just don't want to put my baby through any more painful tests. Besides, even if they do get an answer, there is no cure or treatment. So what's the point? So, we're going to shut the door on this for now. Should something change, his door is always open, but for now, we're done. He did do some blood work to check for chromosomal abnormalities because that is still a possibility, but that's not his speciality. If those come back abnormal, he'll refer us to the geneticists he works with.

So the meeting at U of M went well, but unfortunately Dominic had two seizures on Monday. One right before the appointment and one when we got home. I was upset, but I'm also starting to realize this is our life now. This is just something we're going to have to deal with. But it doesn't make it easier to hold him and watch him seize. They were a little different this time - he stayed conscious. I knew we were seeing Dr. Arndt on Tuesday, so I tried not to freak out too much. Below is the video of one of his seizures (ignore Mitchell, the phone ringing and our conversations in the background).



Tuesday morning our OT from Early On came out and she was thrilled with how well he's doing. He's holding his head up great on his tummy, tracks everything, brings his hands to mid line and grabs toys with BOTH hands, but he still obviously prefers the left. We got to check a few of the "goals" off the list, which always feels good. Progress!

We then had our appointment with "Dr. Wonderful" where I made him blush because I told him we call him "Dr. Wonderful". I absolutely adore this man! He is sweet, kind, thorough and very smart. He took 45 minutes to chat and answer questions. I showed him video of the seizures Dominic had the day before and he said he had simple partial seizures, as opposed to complex partial. This just means the seizure started in one part of the brain and didn't spread, which is why he stayed conscious. This is actually a good thing! Well, maybe not good, but better than a complex partial. He thought the seizures were probably caused by the slight cold he has and also the fact that he's gained two pounds since he started on Keppra. They determine the dose based on milligrams per kilogram. So, since he's gained weight, it's almost like we lowered the dose. So, we just upped the dose a little and hopefully that will keep the seizures away. I'm guessing we'll have to do this every so often as he packs on the pounds. Other than that, Dr. Arndt thought Dominic looked great. My mom came with (she really wanted to meet Dr. Wonderful) and she asked him how Dominic looked compared to most kids with IS and he said "well, to answer your question directly...Amazing!" So, that's always encouraging to hear.

Yesterday we met with the Nephrologist about his kidney stones. He does not believe, based on the number and size of the stones, that they will dissolve on their own. Great, more conflicting opinions! Not only that but he's concerned they could cause UTI's. So, he put him on Sodium Citrate and Citric Acid to prevent that. He said really there are two options - he passes the stones or we remove them. Otherwise they just sit there and could block urine in his kidneys. We go back to the Urologist in two months for another ultrasound. If they are still there and the same size, he'll remove them. In the meantime we just wait and see if they pass. That should be a fun day!

All in all, another good week. Dominic's last dose of Vigabatrin was last night, so we can cross that med off the list and pray the spasms don't return. We'll see in April what the MRI shows. Hopefully being off the Vigabatrin will improve the MRI. Despite the slight cold he has, Dominic is in good spirits. He's happy and seems to get a bit stronger each day. Every time I look at him I just praise God for miracle after miracle. He really is a miracle baby!

To Recap the Week

Overall, it was a pretty good week. We saw the Opthamologist on Wednesday and she said at this point there isn't any peripheral vision loss (from the Vigabatrin) and since he is coming off of it, that should never be an issue. However, he might need glasses in a few months. She said right now his prescription is +5 and a normal baby his age is about a +2. We'll go back in 5-6 months and if he's still at a 5+ she'll put him in glasses. It's not that he can't see, he's just a bit farsighted. So, if she doesn't put him in glasses, it can affect his development. So, we'll see what happens when we go back.

Mama and her boys

He had his BAER hearing test on Thursday and much to my surprise, it was NORMAL! With everyone's concern about his hearing, I was very surprised there wasn't some sort of impairment. But this test is very accurate and the audiologist said it was normal. He might not always respond to sounds the way he should because of his delayed development. So, this is great news to know he can hear. He's just sort of a stinker and picks and chooses who and what he listens to. I wish I could do that sometimes :o)

Friday Dominic had his occupational therapy evaluation. Mike had to take him because I thought it would be fun to come down with a horrible case of the stomach flu. That was a fun Thursday night and Friday. I'm still recovering. So, my sweet husband took the day off and took Dominic to his OT appointment. For now, they want to see him once a week in addition to the OT he gets through Early On. He will also be evaluated for physical therapy on the 28th. The goal for now is to strengthen his right side. They put some kineseo tape on his shoulder, which I'm told is sort of like a cortisone patch. It's supposed to stimulate the muscles and they'll change that once a week.

Like I said, overall a good week (minus the stomach flu). Next week is just as busy. We meet with the Metabolic specialist on Monday in Ann Arbor at U of M. Tuesday we see Dr. Arndt again and Wednesday we see the nephrologist (for the kidney stones). Hopefully we continue to get good news!

Another Busy Week

We have another busy week of appointments - Opthamologist tomorrow, Diagnostic BAER (hearing test) on Thursday and his OT evaluation on Friday. I am grateful to my Mom and Dad who are taking Mitchell for the next few nights. This gives me a much needed break from the constant craziness that comes with a 2 year old, and also gives me a chance to focus on Dominic at all of his appointments. Most importantly this week is his BAER. He needs to be sedated, so he'll have to fast, again. But this will give us an exact diagnosis regarding his hearing. We'll know if and how much impairment he has. I'm not looking forward to it, but I'm anxious to get it over with. His OT evaluation on Friday will determine how many days/hours per week he'll get occupational therapy through Spectrum, in addition to his Early On therapy. His PT evaluation is in a couple weeks, so once that's done, we'll have a set schedule of days/times.

On a good note, Dominic is doing GREAT! He is such a happy little chub and is getting stronger every day. He is working on rolling over and better head control. He is much stronger and is getting much better at using his right hand. He still prefers the left, but the doctor said this is good. What would be bad is if he didn't use either. We just started putting him in the jumparoo last week. I wasn't sure how it would go, as he hadn't been putting weight on his legs up until two days ago. But he LOVES it! I thought it would give him a different perspective and get him off his back, plus it might encourage him to use his legs. It worked :o) Check out the video below.




He is just doing so well and I am just so happy and grateful. To be honest, I wasn't sure I'd see this day. I see a lot of posts and get a lot of emails from Mom's of kid with IS who are 15-16 months old and can't hold their head up and have feeding tubes. I feel incredibly blessed that Dominic is thriving and is such a happy guy. Again, who knows the future, we may have many more obstacles to face, but to see him progress each day gives me so much hope.

Dr. Wonderful and Dr. Rock Star

I feel incredibly blessed to have these two men in my life. And by these two men, I mean Dr. Wonderful (aka Dr. Arndt) and Dr. Rock Star (aka Dr. Chugani). It has been very clear to me that God has placed these people in our lives for a reason.

On Friday, I had to stop in the neurology clinic to pick up Dominic's medical records and all his scans for our appointment with Dr. Chugani. When Dr. Arndt found out I was there, he asked to speak with me. The first thing I thought was "oh no, now what?" But he just wanted to chat with me to see how I was doing, see Dominic and talk through any concerns or questions. He also gave me a copy of the study done on Vigabatrin and MRI abnormalities. He actually presented Dominic's case at a neurology conference on Friday in reference to the stroke/Vigabatrin/MRI abnormalities. He spent a good half an hour answering questions, apologizing for what an emotional roller coaster this has all been for all of us and told me that from now on, everything can go through him. So, if we end up back in the hospital for something, the Dr. on call can contact him, no matter when or what time, to let him know what is going on. Hopefully this can prevent any more confusion and conflicting opinions. Every time I talk with him I feel encouraged and hopeful. Even if the news he gives isn't the greatest, he never leaves me hanging and he is determined to find answers. He calls me back personally and makes time to meet with me. I so appreciate his honesty, expertise and genuine care for Dominic. It is so obvious to me that God placed him in our lives. He just moved to Grand Rapids 2 months before Dominic was first hospitalized. What timing! He has just made this entire process more bearable and hopeful. He is just so wonderful, hence the name Dr. Wonderful!

Dominic's MRI showing Cortical Dysplasia

Yesterday I got to meet the "rock star" of the neurology world, Dr. Chugani. He is fabulous. Not only does he know his stuff - he actually coined the phrase "cortical dysplasia", which is the condition Dominic has (where one side of the brain is malformed) and invented the PET scan (which Dominic will have this summer) - but he is also incredibly down to earth and kind. He even gave me is email address and said any time I needed anything or had questions, to shoot him an email. Not many doctors do that!

A very happy 5 month old

But, now onto what he actually had to say about Dominic - first of all, he thought he looked great. Dominic was smiling, giggling, moving around, and tracking. He does not think Dominic had a stroke, he believes it's swelling in the brain. This could be caused from the seizures or possibly Vigabatrin as Dr. Arndt suggested. He does not think he has a metabolic disorder or Mitochondrial disease, but is glad we are seeing the metabolic specialist of U of M in two weeks, just to rule it out as a possibility. He does not believe the spasms will come back (yeah!). Obviously he can't say for sure, but in his opinion, he thinks he's done with them. The man has seen over 500 kids with IS and written a book about it, so I trust his opinion. After looking at his MRI, he definitely says Dominic has cortical dysplasia and attributes the IS, complex partial seizures and weakness on his right side to the malformation of one side of his brain. Should Dominic continue to have complex partials on a regular basis or should the spasms return, Dominic WOULD BE a candidate for surgery. Now, this sounds like it would be a bad thing, but actually, this is GREAT news! A hemispherectomy (where they remove a hemisphere of the brain) is only considered for patients (usually children) who have severe epilepsy with seizures arising from only one side of the brain. It is performed only if that hemisphere is already functioning very poorly, so the patient loses little or no additional function.We are hoping and praying it will not come to this and his seizures and spasms will continue to be controlled through medication, but how great is it to know that if the meds fail, surgery could correct the problem. He told me he has evaluated a lot of kids where the seizure activity is in both sides of the brain. Unfortunalty, there is nothing that can be done and he has to turn them away. I can't imagine what it would be like being told there is nothing that can be done and my child will continue to seize indefinitely. As my mother-in-law said yesterday, it's those families we really need to pray for.

MRI with DTI

Dr. Chugani is concerned about his hearing, Dominic didn't really seem to respond when he checked it. So, he said the BAER test we have next week is a must. He said he will probably always have weakness on his right side, but PT and OT should help. What we really need to focus on over the next several months is his development. If he continues to improve and develop, that would be great. But if his development lags and he falls farther and farther behind, surgery would be considered. While seizures are bad, they aren't the only indication that something is wrong in his brain. Some kids can continue to have seizures but develop just fine and other kids stop having seizures but their development lags. So, we need to keep an eye on both.

CT vs. PET

Dr. Chugani wants to do an MRI at his office in a month or two because he uses a special technique - MRI with DTI, which is a specialized MRI that evaluates neural pathways within the brain, brain stem, or spine, such as motor-skill controls and speech. He then wants him to have PET scan this summer. A PET (or positron emission tomography) is a medical imaging technology that images the biology of disorders at the molecular level before anatomical changes are visible. It gives information about the body's chemistry that is not available with other imaging techniques and reveals metabolic information (as opposed to anatomical information). He thinks Dominic is still a little young at this point as his brain is still developing and he's not currently having seizures. So, we'll head back there for both of those and then a follow-up appointment in September.

My little miracle

Overall, the appointment went very well and he seems to think Dominic will do great. We'll keep an eye on things, continue with meds and see him in a couple months. I couldn't have asked for things to have gone better. I have seen over the past few months how God has put certain people in our lives. I have the most amazing husband who has been my rock through all of this. My Mitchell who has been such a great big brother and champ for going to all the hospital and doctor visits. And for Dominic, who has been an amazing trouper and taught me so much about strength, resilience, overcoming the odds and unconditional love. Despite all he's been through, he remains the happiest baby I've ever seen. From our friends and family who have continued to support us with prayers, cards, emails, babysitting, meals, house cleaning; to all of the specialists Dominic has seen - neurologist, infectious diseases, urology, nephrology, opthomology, metabolic specialist, and occupational and physical therapists. Of all of the specialists, most importantly has been Dr. Arndt. We would not be here today or have seen all the specialists we have, without him. He has taken such a special interest in Dominic and I am so grateful to him and to God for placing him in our lives. While I would have never asked for everything we've been through over the past several months, God has used this experience to reveal so many blessings to us and I could not be more grateful. I guess I got my second miracle after all! Praise God!

He Said, He Said

The emotional roller coaster continues. We don't really have any answers yet, but I did speak with Dominic's neurologist on Monday and his opinion of what is going on is a little different than the neurologist's we saw on Saturday. There is still a good possibility that Dominic had an Ischemic stroke, based on the MRI results. However, Dr. Arndt believes that if Dominic sustained the amount of damage visible on the MRI, he would be in a coma or have no use of his arms and legs. The location and amount of damage would be devastating. Therefore, he would be getting worse, not better, which is the case. His OT actually thought he was doing awesome! She uses this foam block to help him work on lifting his head and he held it up for 5 minutes. So, clinically, he doesn't seem to have any symptoms of the type of stroke he appears to have had. But, not to say it couldn't be the case. Stranger things have happened. But he also brought up a study that was being done at UCLA when he was there regarding Vigabatrin. Not much has been published on it yet as Vigabatrin is still a new drug and research is still being done. However, when he was at UCLA, he had 25 patients that were on Vigabatrin (the anti-spasm med Dominic has been on since November) that had very similar MRI findings. So, there is a possibility that rather than Dominic having brain damage, rather that he has swelling in his brain caused by the Vigabatrin, that could potentially be reversible. The only way to know for sure is if we take him off the Vigabatrin and do another MRI in a few weeks to see if anything has changed. This is the best case scenario - or as his pediatrician said yesterday, "the only good scenario". It's a little scary taking him off the Vigabatrin because there is the possibility the spasms would come back, then we'd be back at square one. But I guess it's better to know if he truly had a stroke or not.

Therapy

Metabolic disorders and Mitochondrial diseases are still very good possibilities, so we are repeating all metabolic tests that will include Dominic needed another lumbar puncture (spinal tap) and Dr. Arndt is referring us to one of the top Metabolic specialists in the country at U of M. Dominic also started the vitamin therapies yesterday (in the picture below, you would think that's baby food on his face. Nope. It's his meds. More got on his face than in his mouth, and it stains).

So, for the time being we are in a state of waiting, yet again. We are exploring all of the possibilities and Dr. Arndt, along with the rest of the neurologists in his practice, are sitting down with the hospital radiologists on Friday to review ALL of Dominic's scans (CT's, MRI's, and ultrasounds) to try and see if they can put their heads together and make sense of everything. He seems to be somewhat of an anomaly at this point.

We are heading to Detroit on Monday to consult with Dr. Chugani. I feel very blessed to be seeing the top-ranked "go-to" pediatric neurologist in the country. I'll be interested to see what his take is on everything. Until then, we wait. Wait and pray.