My approach and outlook for Toasting Tanner is a little different this year then in the past and I want to explain why because Nothing has changed for Tanner. He still can’t hold his head up or sit up or walk. He can’t talk. He can’t really see or use his hands. He still eats thru a feeding tube, aspirates and he still has multiple seizures every single day. He recently had such a bad seizure that he threw up and aspirated some of that, causing him to choke. We had to break out the suction machine to help clear a pathway for air in his mouth and throat and after that, he quickly developed a fever and low levels of oxygen, requiring us to rush to the ER where he was admitted and diagnosed with pneumonia. All of that happened in just a few hours, with Carson scared to death watching, Brox pushed to the wayside because his brother required more attention and all while knowing this could easily happen again and again, with an outcome not as good we experienced. With all that said, I am still, more now then ever, optimistic about the potential future for Tanner.
We went to the CDKL5 conference this year and learned about multiple new trials and medications coming up in the next 2 years for our kids and a potential cure by 2025! How? A few things are being researched, such as CBD oil. The very first CBD oil was just recently approved by the FDA and is curing and improving seizures for people. Just 2 years ago we were fighting with neurologists across the U.S. to even consider this and families were moving states to buy this legally and now, insurance is paying for it! We were lucky enough to trial this for Tanner early on and it didn’t work for him but it’s working for some CDKL5 kids! The most exciting information we received though is about gene therapy which has already begun with RETT syndrome and is also being tested on embryos in China. (yes, very controversial, but becoming more accepted). RETT is what we call the sister disorder to CDKL5. RETT kids appear to be healthy and typical at birth. They learn to talk and walk and do everything. And then all of a sudden it all ends and they regress back to an infant, where tanner is. RETT is caused by a defective MECP2 gene so by activating the silent MECP2, gene therapy and protein replacement can actually cure the kids. This has been proven and is happening! Other approaches may still improve symptoms and act as great treatments. CDKL5 is an X-linked disorder. Girls have 2 X chromosomes and boys have an X and a Y. One idea being tested is if you are able to turn off the defective X in girls, they can function using their other X. They believe this could ultimately result in a cure! We think boys will be able to benefit from this type of therapy, but it cannot be a cure, since their affected X is the only one they have.
The other type of gene therapy being researched is called CRISPR. There’s a BIG buzz on this type of gene therapy right now. Chinese researchers were the first to CRISPR monkeys and non-viable embryos and to stick CRISPR’D cells into a real live human! And now, a team of scientists have used this technique to repair a disease-causing mutation in viable human embryos. Just imagine being able to take your own embryo, during an IVF procedure and altering the cells to take a life altering disease out, before it’s implanted! But what does this mean for Tanner? It means we are on our way to doing actual gene editing! To swapping out a single DNA nucleotide for another. So far, the studies show the correction of mutations that cause some rare diseases. This entire field of base editing is only about 2 years old, but the company is focused on using base editing to treat serious diseases in children and adults only, not on embryo editing, so could this mean a cure for Tanner? We hope so.
But when I say “cure”, what does that even mean? To be honest, this word has brought much hope to some CDKL5 families and it has caused much heartache to some as well. a lot of parents, like us, will never give up hope for our children but in order to be able to live life, we have to remain realistic too. We spent the entire 1st year of Tanner’s life questioning everything. Why us? why him? what does this mean for his future? What does this mean for ours? Will he die and when? Will he ever walk? Will he ever stop seizing? Now, we have come to terms with CDKL5 for Tanner and somewhat accepted that this is just his life so let’s make the best of it because all we have is hear and now. tomorrow is never guaranteed. We approach any new trial or medication or therapy as “realistically optimistic”. But just like for some other parents, it has taken quite some time to reach this point and having too much hope just ends in disappointment. So the word “cure” may mean something different to us than it does to some. Tanner may never speak, but maybe a cure could mean some sort of motor activity with his eyes or hands! maybe gaining muscle could become a little easier for him over time and he could learn to at least sit unassisted. Maybe his seizures will actually go away and his brain could start to function and learn! Do I realistically believe he will become typical like you and i? no. I don’t. but that’s ok and if only 1 thing improves, I view that as a partial cure and a miracle! So now, reality and hope have started to blend. Why do any of you care about this? because you are our friends and you care for us. CDKL5 kids are dying. Period. Our job is to keep Tanner as happy and as healthy as we can until that cure or potential cure becomes Tanner’s reality. The realist in my head still has visions of Tanner’s funeral because whether we want to admit it or not, that is a possibility and I have to be strong enough to live thru that for the rest of my family, if, god forbid, that happens. But the hope in my heart says we are on our way to a cure and miracles are happening. So until a cure comes, we have to figure out how we can continue to best care for Tanner. He is getting too big to carry up and down the stairs, He seizes all night long, so I can’t move his bedroom and then sleep on a separate floor as him and chair rails are made for the elderly. Not for kids who have zero head control and need a harness and the chair to be reclined. I’ve researched and had multiple companies come to the house. An elevator is the only thing we can think of other than moving, that could help us. But unfortunately, we also need a wheelchair accessible bathroom, a ramp to get into our house and a wheelchair accessible vehicle. Tanner is 4 years old, he weighs 60lbs and is almost 4 feet tall. Those 4 Maintenance items to care for Tanner will cost about $150,000 total. That’s why we are here tonight. We have raised a lot of money for the IFCR in the past and will continue to do so in the future, but for now, we need to think of ourselves and Tanner. Thank you all for coming, thank you for your tremendous support and love and for helping us spread awareness about Tanner. It’s working! Companies are getting involved in the rare community because we are speaking up. So please continue to do so! Let’s all raise our glasses and Toast Tanner. Tanner, may your future here on earth be long and filled with happiness and may you get stronger and healthier with every single rise of the sun. And may a CURE be in your very near future!