Referral to the Mayo Clinic

Sam has been a bit *off* for about a month or so. He wasn’t signing like he had been, he just wasn’t smiling and giggling much like he normally would., etc. Thankfully, the last few days he seems to be back to himself or at least getting there.

Well, being he hadn’t been himself, I made calls from everyone to his pedi to his neuro, to his genetics doctor trying to figure out what if anything was happening with him.

Today, I finally connected with his neurologist at the Gillette as to why she wants to refer Sam down to the Mayo Clinic (I am not opposed to the Mayo at all, both my husband and I had good experiences with them for our respective surgeries).

Basically she said Sam’s case is complicated (as we all know), she was looking at his MRIs from the University and on the report it mentioned a term she had never heard of about his brain malformation (sorry I can’t remember how you spell the medical terms she used). She was saying after reaching out to some other neurologists that his malformation could be larger then what shows on the MRI. She said that one brain hemisphere could be malformed or just a larger portion then we were told way back when. That was when we were told his left frontal lobe.
So long story short, this doctor at the Mayo has more experience with things like this. His neuro at the Gillette’s  doesn’t want to miss anything and even if this doctor can’t help she said that it helps to have a doctor on the care team that is in a surgical center like the Mayo.
She and this doctor at the Mayo also find it interesting that even though Sam does not have any recorded seizures that he seems to do better every time his Keppra was upped in dosage. So she is questioning that maybe there is something surgically that can be done to kind of reset things if I understood her correctly or adjust medications, etc. There are many options from the easy to the rather scary if you ask me (just the words brain surgery kind of scares you. I know that’s a far off thing and maybe won’t even be something this new doctor suggests but it’s something to keep in the back of our minds nonetheless)
I was glad to finally connect with her and understand better as to why she was suggesting this.
Also I told her about how he had been for the past month or so, she said that if it happens again that we should bring him in him so they can do a eeg and maybe he is having seizures deep inside the brain).
I need to call the University and get his records down to the Mayo. Thankfully, Gillette’s is working on all of his records from them to get to this doctor down in Rochester.

Sleep Study Results

Wow, well that was a heck of a lot quicker than I expected.

The sleep doctor from Gillette called me at work. Let’s just say I am not pleased with his bedside manner but he’s not one will we see on a regular basis so I am not going to dwell on it.

Long story short, no sleep apnea was found. He was puzzled as to why Sam was struggling with his breathing at the EEG but not at the sleep study. I asked if it was because he was sleeping on his stomach most of the night but the doctor said he changed positioned 20 times. Due to the results of the sleep study though he wasn’t going to worry about it.


Sleep architecture looked good

Sleep scoring leads showed abnormalities but that is consistent with the EEG (which is due to the brain malformation/and genetic condition)

All 4 stages of sleep were shown

He doesn’t retain carbon dioxide

He was asleep 93% of the night

His saturation rates ranged from 92% to 98%

There was synchronized generalized sleep activity

He said that kids with a history of seizures and hypotonia tend to be more sleepy than their peers according to the sleep doctor. He said if we want to pursue anything more than we would need to see him in clinic but he feels that this one night was representative of Sam’s sleep habits despite what I said about how he sleeps and how this doctor saw him sleep on the video EEG. I guess Harvard published some article that proved one night of a sleep study is sufficient.

I feel like a bad mom for having him go through that. I hate seeing him go through tests that come up with nothing.

I guess we do know something. He has no sleep apnea.


Preemie Related…

But not so much Sam related.

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Today was day 2 of testing, evaluations, and interviews for Sam’s autism testing.

To make a long story short, Sam’s medical dx is:

Autism Spectrum Disorder with accompanying global development delay, rule out intellectual disability. With accompanying receptive- language disorder. Associated with PTEN hamartoma syndrome and prematurity.

Recommendations are: ABA therapy , continue private therapies and if spread to thin and Sam’s stamina becomes an issue the drop speech therapy and preschool.

Needless to say, still absorbing the information and starting to research ABA therapy. I need to re read the information they sent home with me.

In the end like I have posted before, no matter what docs says, Sam is still Sam. He’s the kiddo who loves when you play crack the eggs, sign head and shoulders, not care for zills but loves Indian music, has no problem trying to swipe your food , lives for someone to blow bubbles, walks around like he owns Fairview Rehab in Burnsville, and marches to the beat of his own drummer like any cute 2 year old would.

Tomorrow we are off to Regions for his 48 hour EEG


Gillette Children’s Hospital

Run down of Sam’s appointment with this new neurologist ;

So I think it was good we went to see this neurologist at Gillette’s. She was much more into talking and going over EVeRYTHING about Sam. Heck, she even explained to me that Sam does not just have abnormal white matter. It’s both grey and white matter that is abnormal in his brain. I am blanking on the name she used. Nice to have a doctor that talks, listens and explains.

I was blown away when she asked what I felt the goals of the appointment were.

Plan and thoughts…

She doesn’t think Sam is in pain from headaches because he doesn’t cry but after talking she seems to think maybe there is some sort of pain.

She thinks his tiredness is possibly due to sleep apnea so she is going to get us an appointment for a sleep specialist and maybe even a sleep study.

She is going to schedule a 24 to 4& hour video EEG at the hospital .

She also wants him to see a rehab doctor ( I forgot the actual name she used being we went over so much).

Seriously was not expecting such a productive appointment