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.