Cleveland Clinic

Well, after our rather low key and at times frustrating appointment at the Mayo Clinic, it looks like Sam and I will be headed to Cleveland after the new year. 

My dad reached out to them and started emailing a genetics counselor. Then including me in on it.

She thought it would be helpful to be seen there for the PTEN and he qualifies for a PTEN study.

I am overwhelmed at it all but hopeful that it may help in figuring out Sam.

Anyone out there have experience there and with their docs that deal with PTEN?


End of the week

 Sam’s first week of preschool is done.

Thoughts about his future

Thoughts about trying to get writing here or just be done? 

I like writing and having a place for him to look back on his life but at the same time it kind of depresses me as I feel like I focus on the negative and uncertainty of his medical issues. 

I don’t know…



Talk With Neuro at Gillette’s

After Tuesday’s visit to the Mayo and the confusion around Sam’s visit down there, I left a message for his neurologist at Gillette.

My biggest concern/issue was that Sam was not seen by the doctor she referred us to and the one who she spoke at length with about Sam.

Her response to that was, I am going to figure out what happened there. Her thought was it was a scheduling issue.

My other concern was the thought that we wanted a second opinion on his hand staring episodes. She said they should have addressed the cortical dysphasia. The discussion on that eventually sort of happened. So in the end all parties are somewhat statisfied as I found out she had a long conversation with the neuro at the Mayo. 

I didn’t know how she would feel about upping his keppra dosage as she originally nixed it when I brought up if it was an option after his video EEG at Gillette.

She said that because it’s not something that is ok in textbooks, she still wouldn’t do it. She said clearly Sam is not a textbook kid. He’s a rather a mystery. 

She said if the neuro at the Mayo feels confident in that and we are ok with it then she supports trying it.

I asked about the video EEG down there. She believes we should do it.Ultimately, what both neuros would love to happen is catch Sam on an “off” day and do an EEG. 

We all agree that’s damn near impossible but the docs are hoping.

She then talked about the future and mentioned she does not like to practice medicine outside of her comfort zone and Sam falls outside of her comfort zone with his genetic stuff and this cortical dysphasia.

I am thankful for her honesty but won’t lie it blows at the same time as I really like her and Gillettes. 

We talked and basically if the neuro at the mayo agrees. He would be Sam’s main neurologist to handle medication, etc and surgery if that need ever arose.

She would be a resource and a way to get seen sooner if the need arised where he would need like an EEG sooner then later. It’s easy to drive to St Paul then Rochester.

I don’t know if I am happy with the plan but it makes the most sense.


Vist to the Mayo Clinic

Yesterday was Sam’s appointment the Mayo Clinic that his neurologist at Gillette recommended.

It was a long day. The EEG was at 9:15 and follow up with the doctor was at 2:00 ( turns out that was check in time appointment was 2:30). 

Sam didn’t fall asleep during the EEG as they wanted him to buy it didn’t affect the results.

It was a 4o minute test.

Then we had to kill a very long time. 

Around 3, we met with the pedi neurology resident and he basically wanted Sam’s whole medical history.

Then left.

The neurologist came in around 4. Needless to say Sam and I were tired and a bit punchy by the point.

Neurologist started talking about how they don’t think the daily hand staring spells are seizures and his EEG didn’t show any clinical seizures. 

I said I know the hand thing isn’t a seizure after our visit with Gillette. I also noted he hasn’t had those just staring at his hand in awhile. He seemed surprised and asked isn’t that why you are here? I said no.

He asked if I had just called to make the appointment for a 2nd opinion.

I said no, the Gillette referred us.

So I ended up going over all of Sam’s history and his neurologist at the U and the neurologist at Gillette.

Then we were finally on the same page. Needless to say somewhere between the Gillette and the Mayo a ball of kind of important communication pieces were dropped but I am thankful we got through it.

His EEG didn’t record any clinical seizures but did show hard spikes of abnormal activity in his cortical dysphasia/ left frontal lobe area. Nothing we didn’t already know there.

In end we finally got a plan of action:

–up his seizure medicine dosage. Dan and I have asked if there was a possibility of trying this back since he was seeing a neurologist at the U. This neurologist said if it helped him in the past, why not try.

–he ordered blood worn to check some levels of things. Apparently, there is a blood test to check his levels of seizure meds in his system. The doc said some people maybe on what appears to be a normal dose but for their body it may not be enough

— he did say in his opinion don’t take him off the seizure meds because of those spikes in the EEG, not being on meds could bring on clinical seizures

— go back at the end of the month for a 24 hour EEG.

–he’s ordering the radiologists there to examine his MRI from the Mayo for something that I can’t remember at the moment

Answers, yes and no. This doctor’s biggest thing was he kept saying thi issue of Sam’s and that issue was due to his genetic disorder which he stated he hasn’t heard of and googled it. At this point just to get a handle on how much does the PTEN mutation affect Sam, I feel like a road trip or some sort of consultation with the Cleveland Clinic is in order. His genetic doc at the U understands it but she even suggested it once. No one else seems to have a clue. They have a whole clinic devoted to the PTEN gene.

In the end, we want the best for Sam. I don’t know what that U.S. At this point I guess.

The neurologist referred us to the Mayo because this doctor is suppose to be more seasoned about cortical dysplagia and that wasn’t addressed till I pushed for us to discuss it. He said they don’t know if they dysplagia has anything to do with things Sam is dealing with. He is not showing obvious clinical signs to say yes. The only true way find out is do some surgery that basically means going in and doing something with needles and Sam’s brain. He said there is no reason to do that at this point and I agreed a million times over.

So, here’s to hoping this is just an easy answer of his seizure meds. 

The neurologist did mention another med as well they could add on which helps with some emotional  pieces of things. That is up in the air till we see how the upped keppra affects him.

Again, clear cut answers? No. Some sort of answe, yes. Plan of action yes. Sam still puzzling doctors? Yes.


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.

A fellow preemie mom blogger has written a book about her journey. I don’t formally know her but I have interacted with her on the internet and she along with some other preemie mommas helped me with navigate the world of having a 26 weeker.

Pre-order #AnchoredHope by Kayla Aimee and get TWO free gifts! http://www.anchoredhopebook.com/freebies/