Defeated…

Well feeling that way and wondering if it’s worth appealing being we don’t seem to have a leg to stand on.

I was suppose to have a meeting with Social Security for Sam today. About 2 Hours before I was going to meet them I got a call about income. In previous conversations and paperwork I filled that out.
No one ever mentioned I make to much.
Turns out I do by a hair.
Defeated that his medical needs comes down to money 

Focal discognitive 

Today at pool therapy, Sam got in the pool all excited like usual.

He petered out rather quick. I wasn’t to surprised as his sleep has been pretty bad lately to the point possible sleep apnea is on the table again.

Even when Sam’s tired he can be easily engaged in the pool. It’s his space, what brings a smile to his face.

We tried different things to get his attention. Finally I tossed a ball at him and in my bad aim narrowly missed smacking him in the face. He didn’t move, he didn’t bat an eyelash, etc.. He just didn’t react .

About 2 long minutes went by of Sam! Sam! And touching him, etc. He finally snapped out of it. 

Then he was just foggy/confused for about 30 minutes after.

Being he does not have a neurologist local, I called the Mayo and Cleveland Clinic.

Mayo said he had the seizure noted above and to increase his meds.

Cleveland wants another EEG and not comfortable with increasing dosage. He would recommend a switch to a different seizure med. 

.. Cleveland is sending an order for another EEG to me to get done here. Then send to them. 

I don’t know..

It’s been a long time

I should go back and look to when I last posted.

Life has been crazy but that’s nothing new right? Life with Sam keeps us busy.

So, what’s been happening with Sam?

–He started pool therapy. It wasn’t to consistent but now it will be. I am not super sure how it’s all going to work when school starts but as with everything we make it work.

–He’s doing well in the pool. It’s the only therapy that he doesn’t fit and actually works without getting super tired out.

–The AAC device we trialed for him didn’t work so well. His ST is suppose to be writing something up to try and get a Ipad ok’ed as his dedicated speech device. He does well with the one at ST but the one at home he’s now used to using it for some speech games.

–He finished his first year of preschool and at the end of July 2016 finished his summer school. He will be starting school again on Sept 12th.

–We will be heading back to the Cleveland at the end of January 2017 to visit the Cleveland Clinic again.

–He turned 4 on 8/1. Crazy that my little 2 pounder is now 4 years old.

That’s about it. Hopefully I can start writing in here more.

24 hour EEG

Monday into Tuesday was Sam’s EEG down at the Mayo.

 

The purpose of the EEG was something the neurologist we saw in September of 2015 wanted but after our rather bumpy visit and lack of PTO time at work, I opted to try and find a neurologist up here which we failed at finding.

 

Then we went to Cleveland and the neurologist there wanted one to compare to his others to see if he needs to be on the medication.

 

Long story short, Sam has never shown a clinical seizure on his EEG’s. He has “hard spikes” which put him at high risk for seizures or at the neurologist we saw Monday and yesterday put it, he has “the fuel” to have a seizure at anytime.

 

The 24 EEG from the Mayo showed the same/or similar to the others from the U of M and Gillette.

 

We won’t have a hard answer/decision until I get the images and reports from the Mayo to send to Cleveland. Apparently it’s “cleaner” for me to send them to Cleveland according to the neurologist we saw. Personally, I think they just want the 25.00 fee that they charge you if you ask for it rather then institution to institution which usually doesn’t require a payment. I was to tired to fight her with yesterday and just wanted to get home and in the end if I send it at least I know they will get it. This stems from a call from the Cleveland Clinic telling me that the Gillette and the Mayo told the CC that they have no images of Sam in his records and the U of M won’t get back to her.

 

Anyways, enough of the tired angsty mom rant there…

 

Some things I learned:

 

– these hard spikes are typical of kids with the brain malformation that Sam has.

-these spikes aren’t present in deep sleep which is not typical but a good not typical so yay for that.

-They couldn’t tell me the long term effects of seizure meds on a developing brain because there is no hard research and you get into theory, etc.

 

Which leads me to, if it was up to Mayo, the neuro we saw said that in the end it’s up to Dan and I. It’s what do we feel comfortable with:

 

–stopping the seizure meds and just being aware the risk for seizures is more then on the meds.

–he will still be at risk for seizures but the meds lessen the risk to just a high risk then the higher risk without meds

 

She said Sam tolerates it and the meds seem to help with some development. So she thinks it would be fine to be on it.

 

We aren’t making a decision until the CC sees the images and records.

 

This is just a bit of an overwhelming decision. So much *unknown* and then add into other things like the medication trial he can be a part of in Cleveland but that can’t happen till 6 so that adds another possibility. Keep him on the keppra till these med trial? Take him off the keppra and monitor for seizures and be prepared to do more EEG’s if things go wonky? Keep on the keppra.

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.

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)

  

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 

  

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.