I think it’s important to share where your money is going if you choose to donate so that’s part of what I wanted to focus on tonight. The CDKL5 Foundation is making some amazing strides towards finding our kids a cure and I’d like to give you some details on that.
There’s a research foundation that has partnered with the IFCR called the LouLou Foundation. When they first started in 2015, their goal was “treatments in 5 years” and “cures in 10 years”. Here we are in 2020 with 3 anti-epileptic treatments specifically for CDD and a cure looking very promising. Possible clinical trials for those cures in maybe 2 years!
To better explain:
The 3 anti-epileptic treatments are:
- Ganaxalone – the 1st physical trial for CDD and the 1st drug approved specifically for the treatments of CDD. Tanner was on this trial but unfortunately it did not help him.
- TAK-935 – currently in phase 2. 12 CDKL5 patients are on this trial, Tanner being one of them. If they get positive feedback, it’ll move to phase 3. Unfortunately, this isn’t working for Tanner either, but it is for some of them!
- Fenfluramine – the FDA has approved this for treatments of seizures in Dravet Syndrome and there’s currently a pilot study for CDD at NYU. This is looking positive to advance. We’d really like to get Tanner on this, and we were accepted to start at NYU but we can’t fly there as often as needed. Especially now with Covid. But if it advances, I’m hoping we will have the option to get on it here in GA.
Although those therapies are helping a lot of kids, they will not bring the cure we need. They are simply anti-epileptic therapies. We wish they would work for Tanner to control his seizures, but I’ve always believed his cure is gene therapy and that brings me to the next update.
I hope I state all of this correctly because it’s a bit over my head, but There’s currently 2 different labs and 2 different mice of 2 different ages (baby and juvenile), both with CDKL5. They are currently also having seizures which was not happening before. They each received 1 injection into the brain, which is the therapy, and both have improved motor, cognition and behavior.
There are 2 approaches under development now, gene therapy, which is what I just described and enzyme replacement therapy. There are also trials in place now for gene editing.
There is a very real possibility that this gene therapy could be in human trials in maybe 2 years, providing the possibility for a cure in 5 years. And to be clear, we are very realistic people. A cure does not mean that Tanner will suddenly be like you and I. But what if he were able to use his hands or to see, so he could communicate to us? what if his seizures went away? How amazing would just that be? that would be a miracle and all of YOU can be a part of that miracle!
Earlier this year, we and the whole CDKL5 community lost someone we truly loved and felt very connected to. a little girl named Sonya, or Sonzee Bear, passed away. Her little body just couldn’t take any more. Her mom wrote her a letter specifically for me to share with you tonight.
You were born one year and 9 days after one of your CDKL5 brother’s whose name is Tanner. Our paths with his family wouldn’t initially cross until 2.5 months later when his mother and I were both part of the CDKL5 parent support page on Facebook. There were so few babies/one-year old’s diagnosed at that time, it was really hard to relate to many of the other parents. You and Tanner seemed to always be on par with one another, and I used him as a “guide” if you will, to know what might be on the horizon for you. You sadly never got to meet Tanner himself, but his mother has visited Phoenix twice and our bond will be permanent. When she reached out to me to ask if I was willing to write you a letter for her to read during her annual Toast for Tanner, I didn’t even hesitate, because, while my hope for a cure for you left with your body this past February 3, I still have hope that she won’t have to experience the same fate for Tanner.
Unbeknownst to us, our journey to friendship with Tanner and his family initially began with our sleepless days and nights in the NICU which then transitioned into questionable shakes and startles that we learned were seizures, and shifted into the beginning of the initial nightmare, that we have all now come to know as CDKL5 Deficiency Disorder. The day we received that diagnosis was the very first day we would begin to grieve. We grieved over the potential that we knew deep down was ripped away, we mourned over the you we had initially anticipated, we feared over the course your life would take, but ultimately…ultimately we continued to love on you as if you were no different than your three older siblings. Life however as we had known it prior to your birth would never be the same. It became filled with seizure tracking, round the clock medications, intensive therapy sessions, multiple doctors, having to watch you miss basic developmental milestones, living with you days and weeks at a time in various hospital rooms away from your siblings and Aba, and most importantly having to watch you be in pain and suffer repeatedly. You were the one actually experiencing multiple seizures a day, you were the one being forced to take multiple medications, you were the one enduring the side effects of those medications, you were the one unable to vocally or verbally communicate your thoughts, you were the one who couldn’t even sit on the sidelines to watch all of your missed milestones go by, you were the one who spent the days and weeks in the hospital getting poked and prodded. You were the one who was participating in intensive therapies, visiting multiple doctors, and never able to use your hands functionally. You were the one who had to give up eating food by mouth because your stomach didn’t work properly, you were the one who suffered from years of gastrointestinal pain as well as at least 12 broken bones throughout your life, and I am sure if you had been able to interject, you would have a list of other challenges and pains that I wasn’t even aware you experienced.
If G-d ever could have granted me one wish while you were still here, it would have been to erase all of the pain and suffering you ever had to experience. The seizures you were forced to endure during your little lifetime will forever haunt me and make me sick to my stomach. You worked hard some days just to hold up your head, roll to your side, or to simply just continue to live. My wish moving forward is that no other family has to endure any part of life with a child diagnosed with CDKL5 Deficiency Disorder. My pleas would be for someone to find a way to eradicate every symptom of the disorder and completely eliminate the death sentence that it ends up becoming. I should not have had to watch you suffer only to bury you before you turned five. I shouldn’t have had to know the struggles of living life with a child diagnosed with CDKL5 deficiency disorder, and I should not have to walk this new path as a bereaved parent. I am sorry that we weren’t fast enough to help you my Sonzee bear, but the money we hope to raise tonight through Toast for Tanner will continue to further research and help our “small” but sadly still too large community of families of your CDKL5 siblings move closer to a potential cure. I miss you and love you.
**From a bereaved mom of a child who was diagnosed with CDKL5 deficiency disorder, I beg of you to think about what you would want done if it was YOUR son or daughter, if it was YOUR niece or nephew, if it was YOUR sibling or family member, and then do that for Tanner, and do it for Sonzee, and do it for every single child who has been diagnosed so that one day no new families are admitted into our support page, and no families have to have the rug pulled out from underneath them when they type the characters C-D-K-L-5 into their search engine.
We miss Sonzee so much. We think of her daily, along with all the other CDKL5 kids that just couldn’t hold on any longer. I do not want to bury Tanner. And with your help and support, maybe I won’t have to.
Please donate and bid on auction items. our auction closes at 10pm tonight. We are also selling raffle tickets for a signed jersey and baseball. I’ll post the auction site and the donation page, along with a special slideshow we prepared to better explain and show TANNER’S JOURNEY.
Thank you all and we sincerely hope everyone is staying safe and healthy out there.