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?
Both Brynn and Brett have had their VNS devices replaced. Brynn in December 2018, Brett Valentines Day 2019. We did not think the VNS was even a benefit for Brynnon until his battery began to get low. His seizure counts started gaining and we quickly lost any control we had gained. He was crashing fast and we didn’t know why, until we went for a rush visit, his VNS was in reserve mode. Oh… So, we scheduled his surgery and off he went to have his replacement! Brett wasn’t far behind, although his device was much newer, because he is set to very high pulsing and rapid cycling. The last two neurologist 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:
A Few Photos from our trip to Boston, we drove over 3,000 miles round trip to see a Specialist for the boys! Once we completed our trip we returned home and packed up. we then moved… 850 miles away! Haha! Oh, we just love living on the edge! We are now in an environment like we have never lived in before. We have been here now for 3+ months, and well there has been a lot of snow. Actually we recently just got to see the first signs of grass in the past few weeks. LOL The Service Dog is loving it, as for the rest of us, believe it or not, we think we have found our tribe. This place feels like where we are suppose to be. I think we may call this home. Will try to update again soon, like within a month soon… ~Denise