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. 
It’s been such a long time since I have given any updates here, I do realize that some of you are curious where we are! Well, a lot has happened and we are still catching up ourselves with things. Back in June of 2018, I got a call that the WES test that I requested be ran again came back with a diagnosis, an ultra rare diagnosis actually. Brynn, Brett and I all have a mutation in the HIVEP2 gene believed to be the cause of all of our disease symptoms. Mine mild, theirs moderate/severe, and they obviously received the gene from me. This was a hard fact for me, but not much can be done, as obviously I presumed that all my diagnoses were correct. Well, it appears that they are all rooted from this mutation. Also, we are the only three people in the world with this exact mutation in this gene. So now, we get to wait for someone unrelated to have the same disease set for it to get an actual subset/name or placed under the HIVEP2 umbrella. We primarily still focus on Epilepsy awareness, but I also have become a huge advocate for intellectual disabilities. Since both are misunderstood and invisible disabilities, sadly needing advocacy desperately. We are still working on Brett’s ankles, knees and feet. It gets so frustrating when no one will listen, no one will help or knows exactly what to do. Nothing is ever simple or easy with these boys, never get to just go to a physician and walk out with an easy fix. I had desperately hoped that a diagnoses would give us this amazing group of moms who had all been here, who could walk us through, lend a shoulder to cry on, lend some advice and understanding. We don’t really fit in any one group, they don’t just have Epilepsy, Intellectual Disability… they are so much more than that. I have so many unanswered questions unfortunately all we really know is that the damage is permanent and cannot be undone. The HIVEP2 group is great, but mostly younger children and all vastly different. Haven’t met one case yet that I can say, whoa that’s exactly like my boys. So we just get to keep going, like we were before, except this time at least we know that somehow perhaps in the future their path will help others to not have to go undiagnosed. We know that Brett’s YouTube videos have helped so many get answers and helped a lot of children get diagnosed that may have been diagnosed later as well. So at least we feel like we make a difference, make a positive impact. Isn’t that what we are all supposed to be doing here anyway?
that has cared for him “have to check with the manufacturer to make sure that’s safe” before they will even talk to me further about his settings. Don’t worry, it’s safe, he has been set that way for two years and it’s really helped him. I really believe that is what as saved his life when the medications were not helping! I still make the VNS bracelets and clips! Check them out in my Etsy shop:
Brett and I went on a grand adventure to Service Dog Training Camp for 10 days. Instead of graduating as a Service Dog Team Brett Graduated with his amazing Dog Taylor as a Skilled Companion Team. The reason is that Brett was not able to learn everything he needs to pass the Public Access Test with Taylor independently is he has a disability. I found it painful to watch as those around us struggled to understand how to reach him and understand exactly what Brett’s disability is. As traumatic and life threatening as Epilepsy is for Brett, his intellectual disability that his Epilepsy Syndrome caused has the greatest impact on his life and his abilities. Last time it was tested, his IQ was 46. He carries a Moderate Intellectual Disability diagnosis, that is just a number and in no way defines Brett, but does explain why he could not perfect complete control and care for Taylor in 10 days. He is after all unable to care for himself completely without assistance. As I drove the 7 hours home I had a lot of time to think and reflect on everything. When we drove there we were mostly on highways, surrounded by farmland. It was beautiful, but pretty desolate. It was boring and seemed like the same scenery the whole way. This is probably what a lecture without visual aids is like for a person with Intellectual Disability. It did not take me long to realize that we were going to be going a different way… when I heard the nice voice say “RECALCULATING….” 
When you come face to face with difficult decisions, it’s best to weigh them all out. We have been through so many of these situations, that we are getting better at doing it. Let’s back up a little.
We left MS, went to LA where the only job was open at the time and in the middle of the economic collapse we sold our little piece of paradise for at least half it’s worth and put a down payment on some property in LA. I knew it was a mistake then but didn’t feel we had any other choice and I have kicked myself many times since. It’s like we started a new journey inside a whirlwind, nothing has really been the same or even close since. Brynn was diagnosed, we had to file bankruptcy, we were expecting completely unexpectedly our 6th child, we learned that Brynn is intellectually disabled and we found few answers to his complex brain. Somehow we made it through and just when we started to settle again, we faced the reality that we just were not comfortable there in Cajunland. There was once person there, a neighbor, whom we loved and would have wanted to stay for but it just wasn’t a place we felt we could call home. 
So, we sold that property and got enough back to relocate again to MS. Brynn had his VNS implant surgery and Brett was diagnosed not too long after we crossed the state line. Brett also had the VNS implanted about a year later. I wish I could say that we lived happily ever after, but no we were faced with the reality that the much lower income wouldn’t be enough to pay rent and buy groceries! My Husband was contacted by a newspaper site in Montgomery in 2013 and we jumped at the chance. We were financially stable for the first time since Jan., 2009. We got settled, fixed out credit and got approved for a home loan! We received our Service Dog, Service Dog Failed and Brett seemed to be having more problems than ever before. No matter what we did, his seizures were severely out of control. He was heartbroken over having to surrender his service dog. We learned in AL as well, that Brett too is intellectually disabled. In the last year there, I kept getting the referrals the boys needed for their conditions, but no matter who referred them we couldn’t seem to get any appointments. *Record scratching noise inserted here*
We have been in AL for almost two years now. Frightening thought, considering that I had anticipated better care for the boys here and ended up with less than they had before. To date, they have seen 4 Pediatric Neurologist, 1 Geneticist and still just spinning our wheels as far as the “why.” Currently, we are traveling longer than we were from MS to New Orleans just to see a Pediatric Neurologist who at least seems to have the ability to think outside the box. I still would never leave MS given the chance to do that over!
seems to come around and I assume that’s all. I explain to Brynn that his headphones are broken and it would be nice if he could listen to K-Love to go to sleep. I find K-Love, wait for the play button and for it to load and ahhh, a lovely song is playing. All this time Brett has been tummy down on his bed with his chin on his arm on top the wood low headboard. I say “Brett, scoot down and lay right.” To which he answers, “Who’s Brett?” I ask him if he is okay and he looks at me, and I know by the look he has no clue who I am. So I find myself standing there thinking, how wrong it is that this is “normal” in my world. Nothing could have prepared me for the heart-shattering pain and fear I felt the first time I heard those words, yet here I am staring at my precious blue-eyed baby boy who just said them and I didn’t feel panic. As with any other part of our 
Epilepsy journey, and many others like us, I was not informed or prepared to ever hear those words. So many things that have happened have been exactly the same. I can’t tell you how many times I have stayed up and researched all night something that happened just trying to make sense of it. I never heard about SUDEP until I read about Danny on Dannydid.com. Ms. Willa who did Brynn’s first EEG told me, “It’s okay Momma, people don’t die from seizures.” The very first Pediatric Neurologist Brynn saw after his first known Tonic Clonic while sleeping said, “People don’t have seizures while sleeping, he won’t have another at night it will be during the day, if he has another, everyone is allowed one.” The second Pediatric Neurologist said, “His Cognitive challenges and seizures are not related.” I never heard nocturnal seizures, even though Brynn had his first Tonic Clonic seizure while sleeping until I researched it. Thankfully, we went for a second opinion and stayed there for a few years, long enough to be educated, eventually get Brett diagnosed as well. I have been known to say that no one gave me a book, a pamphlet or even some printouts that could explain most of what we have had to get blindsided with. I imagine it would be frightening to tell a parent, one day your child may not know their own name, how old they are and they may become afraid of you because they do not know who you are. I still feel as though if I had the proper knowledge it may have been less scary and could have saved me hours researching the medical literature available online! Hopefully, we will make some progress soon. I feel it’s important to get those answers, the why my two boys have this obviously genetic seizure disorder and where do we go from here would be nice too!
Epilepsy Warrior Boys, Mom and Little Sister too... 