Adult Progressive Myoclonic Epilepsy

@possumm Hello Tena,

I am so glad that you posted an update about your son's condition. I am sorry to hear that his situation has not improved. It must be heartbreaking to see this deterioration and not to be able to do anything about it.

Your anger and frustration with your current medical team are certainly understandable. You are doing a great job advocating for your son and you deserve the support of his current doctor.

Is your son's doctor now willing to process the referral to Mayo?

To my knowledge he still hasn’t made the decision to place referral request but we have an appt in October so we will be very strongly demanding a referral or we will be removing our son from his care if I’m able to have his PCP do a referral to Mayo for us. I’m not sure if a referral is even needed but I’d rather have that along with clinic to clinic transfer of all medical records and test. It is a very long distance to Mayo and I’m not even sure my son can handle that even over the course of a day or two but they are literally our last chance of hope and not simply from a medical standpoint but our sons mental status as well. Depression and frustration of losing all of your abilities while fighting with your own body has really taken a toll on him.

@possumm I can't even imagine how difficult this is for you but I hope at your October appointment you will get the referral that you need. Will you please post an update when you have some more news? In the meantime, I'm hoping for all the best for you and your son.

It’s been a while since my last post but felt I needed to update that my son has continued to weaken along with increased myoclonic and GTC seizure activity caused by other short term health issues and has only just begun to kind of calm down .
We were told a referral request to Mayo was being done only to find out a week ago he’s decided to discuss thoughts and recommendations with his own colleagues before reaching out to Mayo for help . I informed our epileptologist he has had two years to brainstorm with colleagues ( as far as we knew he was actually doing this already) so I’m beyond angry that we have been misled and our son is paying the price . Teamwork and not solo ego is sometimes required to help a patient and I’d thought all doctors would request help if they have no answers or path to find them. We were offered to be a first in an experimental drug trial at our clinic but I declined due to the doctor stating he would be the first person taking it and the side effects involved. I may be overly protective but I’m not risking my sons life just to help a clinic get funding for their pet project. I wish doctors understood that yes we want answers and control or by some miracle a cure but after all we’ve watched him go through we aren’t going to make it worse especially when he states there’s no evidence this will even work for epileptics. I’ve considered reaching out to other clinics on my own but I feel we are fighting against an unknown underlying condition along with epilepsy and no one is going past the brain so who do you seek out for the entire body to be evaluated as a whole for a clear picture of what’s happening? You simply cannot ignore the rest of the body or what it’s trying to tell you and focus solely on epilepsy because one doesn’t function without the other. If anyone feels I’m wrong or understands please tell me because sometimes as parents we are wrong but there are no reasons being given other than traumatic birth and what seems like thousands of test that prove nothing at all.
I apologize about the length of my post I’m just angry and feel defeated at this point and having our doctor who we trusted mislead and drag around is the most infuriating part of it all. Watching my now 30year old son become his childlike self is heartbreaking in a way I can’t describe and would never want anyone else to go through.

It’s been a while since my last post but felt I needed to update that my son has continued to weaken along with increased myoclonic and GTC seizure activity caused by other short term health issues and has only just begun to kind of calm down .
We were told a referral request to Mayo was being done only to find out a week ago he’s decided to discuss thoughts and recommendations with his own colleagues before reaching out to Mayo for help . I informed our epileptologist he has had two years to brainstorm with colleagues ( as far as we knew he was actually doing this already) so I’m beyond angry that we have been misled and our son is paying the price . Teamwork and not solo ego is sometimes required to help a patient and I’d thought all doctors would request help if they have no answers or path to find them. We were offered to be a first in an experimental drug trial at our clinic but I declined due to the doctor stating he would be the first person taking it and the side effects involved. I may be overly protective but I’m not risking my sons life just to help a clinic get funding for their pet project. I wish doctors understood that yes we want answers and control or by some miracle a cure but after all we’ve watched him go through we aren’t going to make it worse especially when he states there’s no evidence this will even work for epileptics. I’ve considered reaching out to other clinics on my own but I feel we are fighting against an unknown underlying condition along with epilepsy and no one is going past the brain so who do you seek out for the entire body to be evaluated as a whole for a clear picture of what’s happening? You simply cannot ignore the rest of the body or what it’s trying to tell you and focus solely on epilepsy because one doesn’t function without the other. If anyone feels I’m wrong or understands please tell me because sometimes as parents we are wrong but there are no reasons being given other than traumatic birth and what seems like thousands of test that prove nothing at all.
I apologize about the length of my post I’m just angry and feel defeated at this point and having our doctor who we trusted mislead and drag around is the most infuriating part of it all. Watching my now 30year old son become his childlike self is heartbreaking in a way I can’t describe and would never want anyone else to go through.

I should go ahead and call just to get the information of steps I’ll need to take to make sure I have all records and images which shouldn’t be a problem . We’ve kept everything since this started when he was a child because you never know when it will be useful.