Adult Progressive Myoclonic Epilepsy

Posted by Tena @possumm, Mon, Jun 29 7:33am

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 .

Hello @possumm and welcome to Mayo Connect. You certainly have been diligent in seeking help for your son. He has a strong advocates in his corner and that is great! I see that that this is your second post on Mayo Connect and I can certainly understand your concern. I am glad to know that your son will be referred to the Mayo Clinic. They have a renowned epilepsy team and perhaps you will find some answers there.

Do you have an appointment scheduled at Mayo yet?

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@hopeful33250

Hello @possumm and welcome to Mayo Connect. You certainly have been diligent in seeking help for your son. He has a strong advocates in his corner and that is great! I see that that this is your second post on Mayo Connect and I can certainly understand your concern. I am glad to know that your son will be referred to the Mayo Clinic. They have a renowned epilepsy team and perhaps you will find some answers there.

Do you have an appointment scheduled at Mayo yet?

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No ma’am he has to have a VNS checkup on July 13 and once that’s complete the epileptologist said he will be setting us up with Mayo but he also mentioned Cleveland Clinic if Mayo was unable to see us pretty fast. We aren’t entertaining Cleveland because that trip would definitely put more risk on our son since we would be driving. We want answers regardless of the future but we refuse to risk his life to get a possible diagnosis. My husband and I aren’t easily trustful of doctors after all the misdiagnosis over the years that led to a lot of problems for our son.

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We do have a wonderful caring epileptologist as well as his medical team but I have stated we will not accept any of their assumptions or prognosis given when there are no test to confirm any type of diagnosis .

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Hello again, @possumm

I can understand your concerns based on the previous experiences your son has had. I hope that the decisions you make in the future will be ones that can help him without any great risk.

I would like to invite others in Connect who have epilepsy to join in this conversation, @mxyzptlk32, @jakedduck1 @oyeks, @debirwin and @heal33

Here is a link to some more information about Mayo's epilepsy clinic. Click here: https://www.mayoclinic.org/diseases-conditions/epilepsy/care-at-mayo-clinic/mac-20350102

Liked by Leonard

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Hi Tena, I am very sorry to hear about your sons condition.

I have complex partial and tonic clonic (grand mal) seizures but am very fortunate they have not progressed to an extent that I notice. I was diagnosed at age 7, I am 65 now. My complex partial seizures show as what I call "twitches" around my mouth. About 30 years ago my wife complained of my snoring so I had a sleep study done. It was found I have borderline sleep apnea. While waiting for the insurance company to ok a CPAP machine I was given a loner. What I found is it reduced the number of complex partial seizures to practically none. My Grand Mal have always been well controlled with medicine. That was 30 years ago and was an eye opening experience for my sleep study doctor, my neurologist and my primary care. A CPAP machine was approved based on the epilepsy seizure decrease as opposed to the sleep apnea diagnosis.

I am not a doctor but am a strong advocate for CPAP. My triggers are sleep and sugar. The amount of quality sleep (Rapid Eye Movement) I get each night directly effects the number of seizures I have (that is my belief as we have never proven that with an EEG).

I have posted more information under a different group if you want to look. I think if you click on my name it will give you the opportunity to look at those posts. I hope some of this helps.

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@mxyzptlk32

Hi Tena, I am very sorry to hear about your sons condition.

I have complex partial and tonic clonic (grand mal) seizures but am very fortunate they have not progressed to an extent that I notice. I was diagnosed at age 7, I am 65 now. My complex partial seizures show as what I call "twitches" around my mouth. About 30 years ago my wife complained of my snoring so I had a sleep study done. It was found I have borderline sleep apnea. While waiting for the insurance company to ok a CPAP machine I was given a loner. What I found is it reduced the number of complex partial seizures to practically none. My Grand Mal have always been well controlled with medicine. That was 30 years ago and was an eye opening experience for my sleep study doctor, my neurologist and my primary care. A CPAP machine was approved based on the epilepsy seizure decrease as opposed to the sleep apnea diagnosis.

I am not a doctor but am a strong advocate for CPAP. My triggers are sleep and sugar. The amount of quality sleep (Rapid Eye Movement) I get each night directly effects the number of seizures I have (that is my belief as we have never proven that with an EEG).

I have posted more information under a different group if you want to look. I think if you click on my name it will give you the opportunity to look at those posts. I hope some of this helps.

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Thank you I will check all information and posts. We have considered sleep apnea since that is sometimes an inherited condition and my husband and oldest son suffer from this along with most of my husbands family but this isn’t something our youngest has although he is hypoglycemic like myself as well as my siblings and mother were and we battle that regularly especially with his swallowing issues limiting intake but he has done very well using ensure to keep everything stable so far when he’s unable to eat. His Myoclonics have him jerking near non stop so he is totally dependent on me for his meals, drinks and personal care although we do encourage him to try doing simple things to see if he can surprise himself and there are times he can hold a straw or piece of utensil but 98% of the time he is unable to do so . Some of this is also because of extreme fear after numerous injuries that resulted from the uncontrolled jerking including broken bones and broken teeth that resulted in dentures at 18. Sunlight ( requires complete eye coverage without making him blind and any home light above our new wattage of 15 triggers his GTC and progressive myoclonics but with the new light strength he is finally able to watch cartoons , talk and seems to enjoy our little fusses a lot better . It’s a constant roller coaster of emotions as frustration for him and us as parents trying to gauge epilepsy or fear and coming up with the best plan for either.

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@possumm

Thank you I will check all information and posts. We have considered sleep apnea since that is sometimes an inherited condition and my husband and oldest son suffer from this along with most of my husbands family but this isn’t something our youngest has although he is hypoglycemic like myself as well as my siblings and mother were and we battle that regularly especially with his swallowing issues limiting intake but he has done very well using ensure to keep everything stable so far when he’s unable to eat. His Myoclonics have him jerking near non stop so he is totally dependent on me for his meals, drinks and personal care although we do encourage him to try doing simple things to see if he can surprise himself and there are times he can hold a straw or piece of utensil but 98% of the time he is unable to do so . Some of this is also because of extreme fear after numerous injuries that resulted from the uncontrolled jerking including broken bones and broken teeth that resulted in dentures at 18. Sunlight ( requires complete eye coverage without making him blind and any home light above our new wattage of 15 triggers his GTC and progressive myoclonics but with the new light strength he is finally able to watch cartoons , talk and seems to enjoy our little fusses a lot better . It’s a constant roller coaster of emotions as frustration for him and us as parents trying to gauge epilepsy or fear and coming up with the best plan for either.

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My symptoms are light-weight compared to what you are dealing with. I am wondering if you record the doctor sessions you have? I found it very helpful when I went to the Mayo Clinic. When I replayed the recording it amazed me how much I missed in the conversation. I always ask if it will be ok (required by law) and sometimes they ask why. I tell them because you are about to say something I won't understand or perhaps use a word I will have to look up later.

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@mxyzptlk32

My symptoms are light-weight compared to what you are dealing with. I am wondering if you record the doctor sessions you have? I found it very helpful when I went to the Mayo Clinic. When I replayed the recording it amazed me how much I missed in the conversation. I always ask if it will be ok (required by law) and sometimes they ask why. I tell them because you are about to say something I won't understand or perhaps use a word I will have to look up later.

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No I’ve never thought about it but our doctor actually records everything because he has forgotten a few things we’ve said and it helps him to go back when I remind him of any discussion and timeline we’ve had previous because of an incident on his part before but we totally understood since he had just became a new parent as well as working at his clinic then being on call at the hospital all weekend. I also notate everything at home and clinics ( dates, names of any physician ,phone numbers, test, ect…) where our son is concerned and each of us make sure that we have clear communication and understanding before we say goodbye . The clinic sends us email copies of the visit so that helps keep us refreshed just in case we have a lapse in memory. I have to say so far he has been the most thorough with precautions and communication since we met him two years ago. He’s the only doctor we’ve had that regardless of time he has his computer records accessible and calls us personally no matter the day or time should something come up but he’s genuinely concerned and has dealt with some of this in his personal life as well.

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@possumm
Hello,
Does your son by chance have a Atonic seizures?
Take care,
Jake

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He has Atonic as well as Tonic Clonic listed in the records from 6 neurologists but his epileptologist only has listed Intractable Epilepsy and last of two status epilepticus was July 2018 upon waking up from a nap that required 8 days this time in ICU w/intubation and took two hours and loads of meds to stop the seizures once intubated , nocturnal ( I cant remember if this is the actual name of the epilepsy) now has the progressive myoclonic epilepsy as diagnosis but all genetic test were negative, along with extreme photosensitivity . Our family refuses the progressive diagnosis since there is no test confirming this but he does show the clinical signs and symptoms which is why he suspects this to be the case. We have security cameras recording at all times so the doctor can always watch when we take clips ( Vivint security is connected to our phones) in order to understand or see any changes .

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@possumm

He has Atonic as well as Tonic Clonic listed in the records from 6 neurologists but his epileptologist only has listed Intractable Epilepsy and last of two status epilepticus was July 2018 upon waking up from a nap that required 8 days this time in ICU w/intubation and took two hours and loads of meds to stop the seizures once intubated , nocturnal ( I cant remember if this is the actual name of the epilepsy) now has the progressive myoclonic epilepsy as diagnosis but all genetic test were negative, along with extreme photosensitivity . Our family refuses the progressive diagnosis since there is no test confirming this but he does show the clinical signs and symptoms which is why he suspects this to be the case. We have security cameras recording at all times so the doctor can always watch when we take clips ( Vivint security is connected to our phones) in order to understand or see any changes .

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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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@possumm

He has Atonic as well as Tonic Clonic listed in the records from 6 neurologists but his epileptologist only has listed Intractable Epilepsy and last of two status epilepticus was July 2018 upon waking up from a nap that required 8 days this time in ICU w/intubation and took two hours and loads of meds to stop the seizures once intubated , nocturnal ( I cant remember if this is the actual name of the epilepsy) now has the progressive myoclonic epilepsy as diagnosis but all genetic test were negative, along with extreme photosensitivity . Our family refuses the progressive diagnosis since there is no test confirming this but he does show the clinical signs and symptoms which is why he suspects this to be the case. We have security cameras recording at all times so the doctor can always watch when we take clips ( Vivint security is connected to our phones) in order to understand or see any changes .

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Hello: 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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Thank 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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@possumm

Thank 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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@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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@possumm

Thank 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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@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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