I was surprised when I visited this blog to discover just how long it has been since I have written anything here. Things have gotten busy and complicated, I just stopped finding the time to update. So, here I am with some updates to do. First Abigail, our youngest child was diagnosed with Autism and it was confirmed that she too has the same HIVEP2 mutation Brynn, Brett and I have. Abigail became the 4th person in the world known to have our exact mutation. She was also diagnosed with epilepsy this year, very mild compared to the boys. Wisconsin has still proven to be fabulous for Brynn and Brett, this is the best they have ever been seizure count wise. I am fairly sure at this point that the heat in the South may have been a factor all those years, and historically it makes sense that even Brett improved when we moved from AL to MO. My Epilepsy Warrior Boys are grown men now, 25 and 20 with beards most men in their 40’s drool over. They have leveled out cognitively, and matured nicely. Brynn still enjoys tinkering with things, and works part time at a local hardware store mixing paint. He has an amazing sense of humor and enjoys playing video games, doing anything working with his hands and helping people still makes him happy. Brett is pretty quiet, and writes song lyrics. He goes through phases of playing the drums, keyboard and guitar. He enjoys video games and streams games online and enjoys the thought of making people happy. Things not only got busy, they also became intensely complicated as Brett was diagnosed with schizophrenia last year. This was a known risk, as I had spent two years intensely researching the boys genes to try to find the cause of their seizures and intellectual disabilities. I think back to those years and wonder where I found the brain power to do that now! I did learn a lot about their health risk, running their raw DNA through programs, researching all the genes and tracking down which ones they both carried analyzing to see if seizures and/or intellectual disability was part of the disease risk involved way back in 2015-2016 before most people even knew it was a thing. I remember I was scoffed at when I took the pages and pages of data I had accumulated to the geneticist, the geneticist said that they could not go by that data. Yet, even today when you look at the rare disease gene that the WES test ended up identifying as the cause, it gives a SNP: RS1774991184. If you are curious, my method was downloading the raw DNA for Brett, Brynn, Mother (Self) through 23&me.com and ancestry.com. I then loaded raw DNA into Enlis, then uploaded into Enlis Genome Personal 1.8 Software as well as Promethease Software. Used SNP’s that I found from Enlis to obtain more information through Variatas. I still have hundreds of pages of files that list SNP’s that Brynn and Brett have in common. Ancestry and 23&me only are giving a tiny bit of dan information, nothing compared to a Whole Exam Sequencing test, which eventually brought us to the diagnosis. I am surprised looking back that I survived that intense research that did nothing more than give me so many more things to worry about them possibly having. I did learn though, that they both had unusually high markers for schizophrenia, which to my knowledge no one in the family had been diagnosed with before. I also saw risk for Autism, Rhett’s, EDS, ALS among many other diseases. Genetics is a fascinating topic to explore, especially when in context to symptoms being experienced. One may have a few or thousands of mutations that may cause disease, but diagnosis happens when disease symptoms are present. In our case, HIVEP2 is Ultra Rare, having only a few hundred cases known worldwide. That in itself makes for complications when knowing whether a particular symptom is that of the mutation of coincidence. For Brynn, Brett, Abigail and I we are rare, in that we are the only four people in the world with our exact mutation. I have read just about every scientific paper written on HIVEP2, but I have yet to see chronic pain being a symptom listed. Some studies suggest that HIVEP2 can have a broader impact on the nervous system, perhaps affecting pain perception and sensitivity, which sounds a lot like the “Fibromyalgia” I was diagnosed with back in 1999. Brett and Abigail have a blood clotting disorder and to my knowledge that has not been seen in HIVEP2 as of yet. Most studies list muscle weakness and hypotonia but not pain, yet us four certainly all have it. Deletion of HIVEP2 in mice leads to schizophrenia-like behaviors and neuropathological features. This suggest a link between HIVEP2 and the schizophrenia. There is a Dr. in Chapel Hill, NC who was running a study on HIVEP2 and schizophrenia, which was interesting for Brett, I tried without success to reach out to him. When the boys received the diagnosis back in 2016, all I could find was intellectual disability, possibly seizures and hypotonia. Most studies now are expanding to list cognitive and social impairments, anxiety-like behaviors, hyperactivity, memory deficits, hypotonia, developmental delay, intellectual disability, language impairment, reflux, strabismus, impaired speech, anxiety, autism spectrum disorder (ASD), mild structural brain anomalies, mild dysmorphic features and seizures. I suspect that in my lifetime I may eventually see the chronic pain become part of the syndrome as well. If a non related person or persons would become diagnosed with the same mutation and similar symptoms, then we would have our own unique “flavor” of HIVEP2, which we indeed do already, you’re not going to find us in any papers anytime soon by the looks of things. It is interesting to ponder what a specialist proposed, that our specific variant may be more severe in males, with seizures and intellectual disability being moderate and females having more mild seizures and autism. Specifically, us four share the anxiety, GI symptoms, muscle weakness and pain but we are different in the cognitive and seizure diagnosis. The Rare Disease organization that sends out yearly behavioral and health assessments isn’t even using the data from most of the inherited families that are participating from what I can tell. I recently submitted the assessments for the first time in a few years, so I guess we’ll see if the numbers change having just added the three siblings with seizures to their data. We are just chugging along, knowing that in reality we are writing our own unique book on our rare journey. I suspect that it may not even happen in my lifetime, that we have more insight on our variant. I haven’t given up hope though. I don’t give up, if I did we wouldn’t have made it this far would we have? In the meantime, I will try to update here every few weeks or months. Someday, someone with our variant is going to come across this blog and be so grateful to have found their tribe.
~Denise
I am sure that there are a lot of various opinions of what it means to be a Warrior Mom or Warrior Dad. The past week has brought many different emotions for me, all familiar for any parent who has a child with special needs. FRUSTRATION/ANGER: Angry that I cannot get the right treatments for Brett concerning his ankles, legs and pain problems. Angry that we yet again have landed in a place that does not have more than one neurologist close by who is willing to see Brynn and Brett because “They have complex care needs.” Angry that I have to make all these phone calls just to get the prescriptions every month, it’s not supposed to be this complicated. The list goes on, but you get the point. SADNESS/GRIEF: Going through facebook photos looking at how great Brett looks compared to a few years ago, I saw artwork he had done back in 2012. Paintings that he is not capable of today. It’s a painful sting to the heart, to remember my beautiful little boy that was to be, that is not anymore. When your child regresses and looses skills, years of development, there is a grieving process that you must go through. At some point, you realize what the physicians are not telling you, that your child will never become the child that he/she was born to be. This monster has stolen that child and now, the child that you are left with is and will be only a shell of that child. Ultimate sadness yet again as I read that another precious child was taken by seizures. No matter how many times we read those statistics, or hear about SUDEP or even tell others about the risk of death that seizures bring, it will never change the sadness that our community feels when we loose another precious child, mother, father, sister, brother, anyone to epilepsy. One seizure is all it takes, ONE. 
I am a Home School Mom. It shouldn’t have come as such a surprise, I knew, I guess I just refused to admit it. I knew how terribly Brynn still struggles to read at a second-grade level. I knew too that Brett still struggles to work on the level he mastered 5 years ago. Somehow, it did come as a shock and caused great sadness to read in black and white that I have two children who are now diagnosed as being “Moderately Intellectually Disabled.” Perhaps deep down 
inside I had hoped that the testing would provide clues to reach them, I hoped that I was missing. Surely there was something that would magically make what is taught stick in the brain for later use.
think Brynn would make a great, fix it all mechanic and Brett would surely be a wonderful, caring and compassionate doctor. You have all these hopes and dreams of your children’s future and you want them to achieve great things. You hope that they will have even more happiness than you have and if at all possible that they will grow into successful and God fearing people, with a great deal of moral responsibility and grace that they will accomplish many great things.
I feel like I embraced Holland, which in our case is Epilepsy. I learned all I could about it and I learned to appreciate our family life in Holland. I joined all the groups, found others like us. I advocated I researched thousands of hours and I read more than the tour guides most refer to as physicians likely do about how we ended up here on the genetic map. I made the best out of Holland and did my very best to help all the other parents who ended up in Holland unexpectedly like we did. Now I have been told that I am not really in Holland, I am in France as we are not just dealing with epilepsy, it is moderate intellectual disability as well. I knew Brynn had been diagnosed with Cognitive Disorder 
NOS and Cognitive Disability, but I assumed that when his seizures were better controlled that it was likely that his cognitive difficulties would be better. His seizures are so much better controlled than they were 5 years ago when he completed his first neuropsychological evaluation. He has been on the same medication for over two years with no adjustments at all, so this is truly who Brynn is and where he likely will stay for life. Never in a million years would I have been prepared for his full-scale IQ to be 17 points lower. We saw an immediate 3-year regression with his second status Tonic Clonic seizure. It took a few years to even get almost back to where he was and he was already behind in all areas. I can only presume that this is what caused the IQ 
level to drop, I have written before about brain damage from seizures. I couldn’t have imagined that Brett’s scores across the board would be so low either. Both boys score highest in Verbal Intelligence which I have read is usually the case in Moderate disability. I suppose this is a blessing, as they are both able to speak and understand a broad variety of words. So, I guess I need to explore all I can now about France. We will have to find more tour guides, join more groups and find out all we can about this place that we have been placed. I have to wonder, if it would have made a difference had someone told us when they were born that this journey would be different.
Neuropsychologist, two epileptologist’s and the geneticist combined trying to figure my boys condition and cause of it, what we are dealing with and how to help them. I have still not given up, like everything else in my life I am geared to over obsess over problems until I to let it go because I start to loose my mind or until I reach the answer, whichever comes first.
you wake up and brace for the unknown. Seizures seem to constantly change and evolve either for the better or worse, but nothing stays the same long. We have been blessed to see weeks without a single seizure and we have struggled when we watched the twinkle in their eyes disappear as seizures took over and stole their precious memories, learning, endurance, laughter and fight away. At least, that is how our journey has been. Plans? We don’t often get to make plans. It is much easier to live spur of the moment. We have left seizure clinic in a wheelchair half the times we have been to see the 
neuro and once in an ambulance for status just getting a seat belt in the wheelchair.
articles about epilepsy, regions of the brain, genes, seizure types and anything else I can get my eyes on. The better I understand things the better I deal with them. Regardless of the situation, I am not the “take two of these and call the doctor if you have a problem” kind of gal. Nah, I gotta know what to call this thing we are treating, research all I can about it, know what caused it and the name and every detail about that drug the Dr. just wrote on his script pad before I put in down any one’s throat! Epilepsy has been my weakness, I don’t know why it’s happening 
and in spite of the years of research. I still don’t know how to fix it or even what caused it. Brett’s journey has been much worse than Brynn’s. He has has spent months of sleeping 16-19 hours a day and even on good days he sleeps 12-14. His seizure counts in the last six months average 3 a day. He has a large variety: Tonic Clonic, Atonic, Complex Partial and Simple Partial/Aura’s. We still do not count any seizures that are shorter than a minute, unless they come in a cluster and count that as one. When his seizure counts were lowest, his quality of life poorer. Seizure counts 
higher and he lost endurance, balance, cognitive function and his laughter disappeared. Since his ammonia level and platelet level scare, we never have been able to find balance again. We lowered Depakote and saw an increase, went back up added Carnitine to try to help his ammonia level stay down that helped until a few weeks later he crashed again. We added Onfi, and I assumed that he would do well on it since Brynn has and hopefully get off one or more of the other meds. That didn’t happen. What a mess! His ammonia went back up and platelets 
down, so we weaned Depakote. All this while Brynn started having an increase of nocturnal seizures, the Tonics came back as did the myoclonic jerks. Saw a new neurologist who is a lot like the old one the boys favorite (Dr. D). He’s almost 3 hours away, but smart and no BS kind of guy. He increased both their VNS magnet settings and put them on rapid cycling.
Brynn, offsetting any meds may cause him to go back to where he was. It’s likely best to just stay where we are and appreciate where he is, less is best! He has stayed on the same doses of Fycompa, Vimpat and Onfi for two years now. Brynn has maintained his 40+ pound weight loss well. His confidence is up and he is staying active happily living back in the country again. He is 16 now, so we are awaiting his new IQ test results to have him placed in a transition program that will lead to special job training. Brett started the testing as well, but could not 
complete the time needed due to seizures on 3 visits that stopped the testing, so we decided to wait until he is more stable.
Blue due to her unstable temperament and aggressive tendency towards men. We put a complaint in with the BBB Here:
us since the end of July. We have had to give up on the service dog completely. Honestly, I don’t think Brett could handle the process again and I have doubts that he could bond with another dog like he did with Blue again. It’s a really horrible thing to have gone through, but we will do all we can to make sure this does not happen to anyone else. $5,800 is a lot of money to watch turn into nothing and there isn’t much you can do about it except sue, and loose better than half the money in attorney fees anyway. The Service Dog industry needs to be regulated and laws 
need to be made to make these deceptive “Trainers” accountable for what they are doing to families. It should be illegal for anyone who has not been through training and received certification to sell a service dog. We are not the only ones, I have been contacted by so many people who have had failed service dogs. I just wish they would have contacted us before I signed that contract! When you have done all you can do just stand and wait… We have gotten this far with God, and with Him all things are possible! While we are waiting we are getting things done! 
Brian brought home a huge 8 foot table from work, we used the wood and made a wheelchair ramp out of it! Brett has used a loaner chair from Easter Seals for some time now. The Pediatrician said he needed a better fit, since the loaner was a bit bit, and the Physical Therapist agreed and ordered a really nice NXT Generation Tilt in Space wheel chair for him. One need down at a time!
Epilepsy Warrior Boys, Mom and Little Sister too... 