Tanner has been thru more in his lifetime than most of us in this room will ever go thru, and he’s only 8 years old.
Have you ever wondered what your purpose here on earth is? I know this is gonna get deep for a minute but seriously, most of us live life and never really know our specific purpose. We have fun, go to school, get married, have kids, work, raise our kids, make friends, work harder, get older…you get the picture. Growing up, I was always outspoken, loud, strong willed and boisterous. In high school, I got into 2 physical fights. The only 2 I’ve been in in my life and they were both defending my best friend (who’s here tonight but I won’t mention her by name…Brooke). She was too sweet to tell a mean girl to back off but sweet had nothing to do with it in my eyes. Someone was mistreating my friend so I stepped in. In college, my best friend referred to me as “her voice” because that’s what I was for her when needed. I tell you all of this because I never wondered why I had the personality I had growing up…but now I know why. God’s intention was to give me Tanner all along and he knew Tanner needed a strong, outspoken voice to speak for him. To fight for him! I was simply given 35 years of practice! I fight for medicines, for procedures, for therapies, for insurance coverage, for seating and mobility needs, for inclusion, for awareness, for funding, for an elevator!…and now, we are fighting for a cure! My purpose in life is to save Tanner’s life and together, with Brian, I think we’ve already done that. Who knows how he would have been taken care of if given to other parents. Tanner is who he is and as healthy as he is because of us and when I speak to other newly diagnosed families who are just starting their journey with CDKL5, they ask me the how’s and why’s. The same questions I asked! But I can still remember exactly what it felt like when I got the diagnosis and 8 years later, my advice to those families is the comfort of knowing that I’m fulfilling my purpose in life. And in time, they will to. It’s such a privilege to be Tanner’s parents and to be able to love him and learn from him. We are all making a difference!
Moving forward, although I think it’s important to tell Tanner’s story and to keep sharing his life with the world, I’m going to spend these moments at Toasting Tanner sharing updates on the Genetic Therapy currently underway, that we believe will one day be Tanner’s CURE! I’m going to consistently put the positive vibe out there into the universe that a CURE is coming. I’m not sure if everyone knows what “Genetic Therapy” means but I’m gonna tell you. A lot of people fundraise for great causes and raise money for organizations to help find a cure but I’ve always wondered what part of the population actually believes a cure is possible or are they just donating money because it’s a nice thing to do. In our case, I think it’s probably a little of both, but my goal is to educate you on what is coming and get you to believe that this is not just some pipe dream. It’s coming and all of you are going to be a part of it!
The Loulou Foundation partnered with the IFCR in 2015 with a goal of “treatments in 5 years” and “cures in 10 years”. Here we are in 2022 with 3 very successful anti-epileptic treatments, specifically for CDD and a cure looking very promising. If you follow us on social media and have seen the pictures and posts we’ve put up recently with all of Tanner’s smiles, that is due to one of these 3 drugs that is miraculously working for Tanner! The length of time each seizure lasts has been cut in half and the amount of seizures in a day have decreased by about 25%. Because of this, little bits of personality and happiness has started to come out. He plays with us, he interacts purposefully and he smiles.
Although this is fantastic news, the best we’ve seen in 8 years, I’ve always said this and will say it again, Tanner may show some improvements with medication but my belief, faith and prayers are that a genetic therapy is made available soon, while Tanner is still alive and healthy because that’s his only real hope. A company called Ultragenyx and others are currently working on the gene therapy we are waiting on which is basically a single injection, into the Cerebral Spinal Fluid, to supply a functioning copy of the CDKL5 protein. As of right now, it is believed that this injection will be a 1 and done and cannot be repeated. What does that mean? That if it works, that’s great, but if Tanner is able to get into the trial and for some reason the trial doesn’t work, he’s done. So very scary and lots to consider. There’s a lot of positive here though. this is a 7 phase process before we are at the FDA approved, commercial form for everyone, and we are already in phase 3. The therapy given to mice models has lead to improvements across several different functional domains, such as Motor function, learning and memory. They now need to evaluate in larger animal brains. So, what can we do to help this process? The IFCR has started a 1 in 200 campaign. They are asking that at least 200 kids be seen before the end of the year, in one of the Centers of Excellence. This will help them understand standard measure of care across multiple kids where the disorder presents itself so differently. So Tanner and I, with the help of my Mother-in-law, will be flying to Boston in a couple weeks to be seen by multiple specialists for CDKL5, at Boston Children’s Hospital. I want to end it there on a high note and say that your money is not going towards a pipe dream. It’s going to a potential miracle for our son.