Adult Progressive Myoclonic Epilepsy

Posted by Tena @possumm, Jun 29, 2020

Has anyone been told by their epileptologist they have PME although genetic testing is negative ? Our son is 29 and has multiple forms of epilepsy starting at age 9 ( possibly was having at age 2 but undiagnosed according to doctors) , developed myoclonic epilepsy at age 12 and has progressed In severity and frequency since . He was born with some mental struggles in development as well as small and slow growth but he is now 5’8” but only weighs 92 pounds and had mentally gotten to a near age appropriate mental capacity until he turned 15 and suffered brain damage while hospitalized for EEG study and went into a severe gran mal and we were told he flatlined for a minute or two but his brain had been without oxygen too long and was temporarily paralyzed in the left side for a few months but regained movement eventually . He was a ball player and a nuisance to his big brothers until the age of 19 when he woke up and went to get out of bed and had lost the use of his legs for no apparent reason or injury. He has been confined to a wheelchair since ( now confined to bed) and two years ago went status epilepticus and when he woke on the 8th day he could walk and talk for two weeks. We had started physical therapy again and been referred to an epileptologist who said it could be what is referred to as a “brain reset” but unfortunately this wasn’t the case. Physical therapist stopped his sessions on the 3rd week due to being so out of control with his Myoclonics that it was unsafe to continue and he had already become bedridden this same week. Doctors tested for PME but all test are negative , muscle and nerve test are perfect, MRI normal and EEG of course showed multiple epilepsies as well as the myoclonic activity. In their words he is the healthiest sick person they’ve seen. We have had all types of blood work done as well as having our home tested for any leads , toxins or poisons but all normal . I also asked if it could be an allergy to any of my cleaning products or any foods but all cane back fine. The doctors have said the prognosis is grim but have no diagnosis other than epilepsy so we are being referred to Mayo for another opinion but our son can’t even travel 3 states away . Has anyone ever experienced this type of issue on any level ? We do have multiple epileptics on both sides but all test came back as no familial abnormality found. He had his first VNS ( 5th replacement just done) implanted at the same time he lost use of his legs but had also started Keppra 2000 mg on top of his Clonazepam, Lamictal, Zonisamide, and Epidiolex with no control at all and worsening each day. Any information is appreciative but we are running out of time as he is now showing dementia like moments at a higher occurrence along with speech impairment, more choking episodes with food or drink and is looking at possibility of requiring feeding tube. I apologize for the long read but we are desperate for advice .

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Tena | @possumm | Sep 24, 2020

In reply to @hopeful33250 "@possumm Hello Tena, I am so glad that you posted an update about your son's condition...." + (show)

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.

Teresa, Volunteer Mentor | @hopeful33250 | Sep 24, 2020

In reply to @possumm "To my knowledge he still hasn’t made the decision to place referral request but we have..." + (show)

@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.

Tena | @possumm | Sep 24, 2020

In reply to @hopeful33250 "@possumm I can't even imagine how difficult this is for you but I hope at your..." + (show)

Thank you and yes I’ll do my best to post an update hopefully it will be a good one

caseybach | @caseybach | Sep 24, 2020

In reply to @possumm "It’s been a while since my last post but felt I needed to update that my..." + (show)

@possumm

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.

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Tena, I am so sorry, so hard..... I am not sure if this helps, but I remember feeling so hopeless, that I called Mayo myself & referred my son. They were more then gracious & had me fax all his info. & they scheduled him an appointment.

Tena | @possumm | Sep 24, 2020

Thank you and I’m keeping that option open but I’d like to see if his doctor has changed his decision or willing to start the process at our upcoming appointment. If he hasn’t then I’ll definitely be getting the information to call and start it myself.

Tena | @possumm | Sep 24, 2020

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.

caseybach | @caseybach | Sep 24, 2020

Oh I so hope you find answers, will be lifting your family up.

Tena | @possumm | Sep 24, 2020

Thank you our family very much appreciate that

Leonard | @jakedduck1 | Sep 24, 2020

In reply to @possumm "It’s been a while since my last post but felt I needed to update that my..." + (show)

@possumm

Jump to this post

@possumm
Although I can only relate to your sons Tonic-Clonic seizures I have been navigating the medical maze looking for answers to my Epilepsy for over 50 years and so far they have proven to be quite elusive. A neurologist told me my epilepsy was caused by my birth and since he wasn’t there and had no information regarding my birth I don’t know how he could come to that conclusion. Personally I believe it was caused when a so called friend hit me in the head with a baseball bat. I believe @caseybach gave you the best advice. I would try to get him admitted into the Comprehensive Epilepsy Center which is a level 4 Center and rated #1 in the Country. I doubt you could find a better facility than Mayo Epilepsy Center. Like your son my seizures were never controlled until they just stopped one day when I was 58 or 59 although PME (Progressive Myoclonic Epilepsy) is rare as are some other Epilepsies I have never understood why doctors bother to say it’s rare when it hits so close to home, what difference does it make. I have been hospitalized more times than I care to remember for so-called rare Epilepsy events and have known too many people who have died from the so-called rare conditions like in Status S.U.D.E.P. (Sudden Unexpected Death in Epilepsy)
I certainly hope you get in to the Mayo Clinic and get the help your son so desperately needs.
Blessings,
Jake

Colleen Young, Connect Director | @colleenyoung | Sep 24, 2020

In reply to @possumm "I should go ahead and call just to get the information of steps I’ll need to..." + (show)

@possumm Tena, @caseybach is right. You can self-refer at Mayo Clinic. It certainly is worth having a discussion with the appointments department. Gather as much information as you have. They will let you know what they need and guide you through the process. Here's the contact info: http://mayocl.in/1mtmR63

Let's find that hope again!

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