3

Cleveland Clinic Trip

Now that life is back into the swing of the usual crazy, time to post about our Cleveland trip. The purpose of the trip in a general sense was hopefully get some idea of how to help Sam better, find a doctor/doctors who will *own* Sam’s medical issues rather then just keep passing us off to other doctors and get stuck in a cycle of who knows (which we did expect to be a possibility because well there are medical mysteries out there, Sam is Sam, etc).

 

Then there was the PTEN study piece of it too. Being part of the study will hopefully help Sam, and others with PTEN and those on and off the spectrum. Being part of the study helped with the cost of getting down to Ohio. I don’t know if we could have realistically take the trip without that. If we did, it would have possibly been pretty costly.

 

Overall, I feel the trip was pretty successful and we have a better idea of how to handle Sam’s medical issues. We don’t have the formal recommendations but we have some things to work with till they come.

 

One issue with the trip was the University of Minnesota and Gillette’s only sent the Cleveland Clinic Sam’s records not images of his MRI and EEG’s. So the neurologist could only work with the reports of the MRI and EEG’s. With the PTEN, the malformation on his brain and being on the spectrum, the neurologist we saw was impressed with how Sam is developing. He basically said that Sam needs a lot of extra time to process what is being asked of him, then repeated showing how to do it and eventually he gets it. The neurological connections are basically on a slow path in Sam’s brain. There are ways to help that but without the MRI images and such, the doctor couldn’t give a lot of ways to help it outside of Sam gets how to do things, you just need to basically drill those concepts into him.

 

We talked about his seizures/no clinical seizures/high risk for seizure issue. He has never had a clinical seizure recorded but due to having these hard spikes in his EEG’s it is noted in his medical records he has focal seizure disorder and is on meds. When we went to the Mayo, they upped his meds.

 

This neurologist wants to do another video EEG. Being we won’t be back to Cleveland till next January, I was going to call Gillette and see if she would be willing to do it. Well, the Mayo called me about Sam’s medication refill and he still wants to do the video EEG done which we cancelled due to my lack of PTO time at the end of 2015 and well truthfully I don’t care for the Mayo when it comes to pediatric care. It seriously blows from my limited experience.

 

We are sucking it up and scheduling it so we can get it done and have those images sent to the neurologist in Cleveland. Then Sam’s gets his meds refilled and the doctor in Cleveland can compare. Once the neurologist in Cleveland gets the images and the EEG results. We will decide if he actually has seizures and/or should come off the medication. This doctor in Cleveland said to have a clinic seizure, you need to have 10 hard spikes in a row. Sam has never had that. He feels that they are treating things correctly.

 

So, we will see how that goes.

 

We also met with GI and decided on some methods to try and help Sam with his reflux. I think those ideas, mostly spreading out his reflux meds throughout the day, are helping.

 

We may be doing a few more things but again, the University didn’t send them everything that was requested so he was only working with what he had.

 

I really should have packed all of his medical records that I had. I didn’t think of that.

 

The other part of our visit dealt with the PTEN study. We met with a genetic counselor which a lot of it I already knew. She asked a lot of questions about how Sam and his development and how we come up with the idea of getting genetic testing done, etc. Being I knew I had the genetic disorder (didn’t know the correct name and all that though at the time) is what drove us to do it after the neonatologist suggested testing.

 

Then we met with the doctor who basically discovered the PTEN gene mutation. We talked about PTEN, my family history of it, signed up to be part of a adult PTEN study (they basically need a blood sample and that’s it). We talked about Sam and how PTEN presents with him. I didn’t have a lot of questions being I kind of know the basics of PTEN though. I feel I have a better understanding of it as a whole though.

 

On our last day there. We were at the Clinic’s autism center, where they did a lot of standard autism testing and questionairres with me with me about Sam.

 

After the testing, I met with the head of the study. I really liked him and felt like he is all about communication and really wants to help people/kids with PTEN. Being no one really knows a lot about it, I like that fact and thankful for it that they want to make Cleveland Clinic kind of a home base and collaborate with your local specialists and such for care. Being all we keep running into is, oh Sam’s issues are PTEN related (but doctors admittedly don’t know what PTEN is, neuro at the Mayo told me he had to google it) and we can’t help you. I feel like that in itself will be helpful.

 

At the end of the study, there is a clinic trial of medication that we can join if we wish. In theory and hope, the medication will help the PTEN fuction properly thus helping the person/kid taking it function better as well. Getting those neurological connections working smoother and faster, etc.

 

Long story short, that’s the visit.

Sam loves plane rides 

Not a fan of security lines after two long days with no naps.

He loves running around airports

 

No real answers but help in the right direction we will feel.

 

I was very impressed with everyone we worked with in Ohio. I really feel like some medical places up here can take lessons from CC. I know every place does have faults but thankfully we didn’t encounter that (yet…and hopefully never).

 

Next January we will head on back to Cleveland for check ups and more for the study.

4

Back from Cleveland 

I need to get a post written up but Sam and I are back from our quick, really jam packed visit to the Cleveland Clinic visit.

We flew down Wednesday and came back Friday night.

It’s nice dealing with medical folks who know what PTEN is.
Post to come in the next day or two
( picture from flying from Cleveland to Chicago where we had a layover before making it home to Minnesota)

  

1

A day and half

And we will be on our way to the Cleveland Clinic.

We leave Wednesday afternoon and land in the evening.

I am nervous but hopeful. Most of this is the PTEN study but we do have some additional appointments.

I am trying to not expect much but damn it I do want to hopeful they can provide some insight into Sam . 

I’m scared that he’s just always going to be a medical mystery 

  

0

It’s been awhile

It’s been a bit since I last updated. The holidays and new year have kept us busy.

Sam had surgery to put another set of tubes in his ears and removed his adenoids. His tonsils maybe removed sooner then later but his ENT wants to avoid removing them if possible. They are “generous ” according to her.

He was 100% obstructed with his adenoids.

Here’s to hoping it helps.

  
In other news, our Cleveland Clinic trip is finalized.  I know being in the study is a good thing to hopefully help with PTEN and hopefully help Sam.

The closer we get though, it scares me. I don’t know if it’s the whole thing or just the traveling to a new city with a 3 year old, leaving the hubby and other son at home, visiting a large hospital.

It’s all overwhelming 

Not much else to report. With the holidays, Sam hasn’t been at school much. He doing better though with school.

2

Update time I guess

I used to write so frequently about Sam and to him.

Life getting busy

Nothing really new to talk about

Not wanting to dwell on the frustrations of doctors not wanting to help “own” San’s medical issues. They just keep passing him off to the next. At least his old neurologist was honest. Honesty hurts like hell but better then his neurologist who said his issues are due to autism and the neurologist at the Mayo saying everything was PTEN related.

Frustrated that no one can really help point us in one direction for help.

I don’t know, these are all reasons for little to no posts. 

Holding out hope our Cleveland Clinic visit will shed light on things.

Sam is slowly adjusting to preschool.

He’s been having a hell of a time with ear infections, losing a ear tube, etc.

He’s slowly showing improvement in speech therapy now that he’s back to it weekly.

He’s hit or miss in OT

PT has been going pretty well too.

His genetics doc thinks he looks good 

He was approved for TEFRA which helps a lot. 

Art project from school

  

0

Dates

Well, we will now be officially headed to the Cleveland Clinic from Jan 27, 2016 to Jan 29,2016.

I don’t know what if anything will come out of this but I am hopeful something good in terms of helping Sam. 

It’s overwhelming 

Life’s been overwhelming 

Hopefully I can learn more about PTEN if anything. I mean I have it but it doesn’t affect me to lengths it does Sam.

I have stupid amounts of mom guilt for passing this on to him 

1

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?

0

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…

 

0

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.