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Fri, Jul 3 5:17pm · Adult Progressive Myoclonic Epilepsy in Epilepsy & Seizures

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.

Wed, Jul 1 8:12pm · Adult Progressive Myoclonic Epilepsy in Epilepsy & Seizures

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 .

Wed, Jul 1 8:17pm · Adult Progressive Myoclonic Epilepsy in Epilepsy & Seizures

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.

Tue, Jun 30 5:58pm · Adult Progressive Myoclonic Epilepsy in Epilepsy & Seizures

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.

Tue, Jun 30 1:00pm · Adult Progressive Myoclonic Epilepsy in Epilepsy & Seizures

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.

Mon, Jun 29 8:20am · Adult Progressive Myoclonic Epilepsy in Epilepsy & Seizures

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 .

Mon, Jun 29 8:17am · Adult Progressive Myoclonic Epilepsy in Epilepsy & Seizures

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.

Mon, Jun 29 7:33am · Adult Progressive Myoclonic Epilepsy in Epilepsy & Seizures

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 .