Adult Progressive Myoclonic Epilepsy

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?

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.

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 .

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

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.

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.

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.

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.

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

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 .