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!