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Adult Progressive Myoclonic Epilepsy
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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We have his above his bed since his full body is involved with the spasms as well as his eyes mouth tongue and neck. Which to us these are the worst since it impairs speech and food intake.
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3 ReactionsHello: i apologize if this is a bit scant but i just had to respond, just in case. My cousin’s daughter in Austria had a grand mal in 2016 (after many years of epilepsy), she was incoherent and in a wheelchair/bed for weeks Until my cousin transferred her to another hospital where it was determined that it was Hashimoto’s disease. Within days she was much better and has not had a seizure since. I don’t know what medication she takes but would be glad to ask. I wish you all the best with your son.
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3 ReactionsThank you I’ve never heard of this disease but i will be researching signs and medications . At this point our doctor and us are searching everything because he just doesn’t know what to do next but thankfully we work together and consider anything and everything the other has to offer. He’s been wheelchair and bed bound way too long and we worry about what this is doing to him or if he can ever recover any mobility after all these years.
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4 Reactions@possumm Hello Tena,
As it has been about a month since you last posted, I was wondering how your son is doing. Are you considering any referrals for a second opinion yet or do you want to stay with your current medical team?
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1 Reaction@possumm
Good morning,
Have your sons seizures ever been controlled at all? This syndrome is difficult at best to treat sometimes successful for a while and then back to seizures. Your sons situation sounds extreme which I’m sorry to hear about. I know it may seem overly optimistic but we never know if or when seizures may stop. Does your son have any lesions or other abnormalities?
Has he ever had brain surgery, if so was it helpful at least for a while?
Take care,
Jake
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1 ReactionMy sons seizures have never been controlled since onset and at the age of 9 or 10 we were told the MRI showed two tumors on the left frontal lobe so it was repeated to confirm but turned out the tech had done something incorrectly and no tumors were found or any other abnormality. He was never a candidate for brain surgery which the chief pediatric surgeon was hoping would be an option but due to his entire brain being involved this wasn’t even a possibility.
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1 ReactionI’m sorry it’s been so long since I was last on and I appreciate you asking about my son. He has had a month of health battles ( kidney stones , numerous seizure battles as well as mental decline) but about a week ago he started having a lot better days but tonight his epilepsy has ramped up once again. We are waiting approval for referral to Mayo Clinic as well as one of the doctors to accept him for second opinion . We are still taking things one day at a time and adjust accordingly each moment but we are holding onto hope that we will find answers instead of guesses and a treatment that works to improve his condition and life . He’s still wearing a smile so we can’t give up.
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1 ReactionIt’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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2 ReactionsWe have had so many opinions over the last 21 years it’s unreal but we were actually told a referral was being done to Mayo for help but they’ve decided to talk with their colleagues instead of Mayo ( we are not happy) . We’ve given two years of hope and trust to our supposed level 4 clinic with the same regimen as our hometown neurology clinic (no specialist in our town) which in reality I guess had we known we could have just stayed with our hometown clinic that was just as useless. I’m sorry if I come across bitter but I’m just tired of false hope while fighting to find someone willing to help . I don’t believe this is rare epilepsy alone that we are in a battle with but I believe there’s something underlying that’s being passed over since focus is only on the brain.
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2 Reactions@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?
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