We have participated in every trial out there for CDKL5. We’ve tried every CBD oil and pharmaceutical med offered, but one of Tanners diagnosis’s is Intractable Epilepsy. Not just epilepsy, but Intractable. That means medication will not help. He will seize no matter what. Some kids see honeymoon periods, but no CDKL5 child is seizure free. I’ve said for about 6 years now, at least, that Tanners only shot at a better life is a cure. A genetic therapy. We will keep researching meds, but as of right now, I believe this is as good as it gets for Tanner.
We attended the CDKL5 convention this year. it was the first time it has been held in person since 2018. This is an opportunity for us to hear directly from specialists mouths, what is going on, what’s been done and where are we going.
We had the opportunity to meet Tracy Durgin while there and she’s here tonight. Tracy is the Director of Medical Science Liaisons for Marinus Pharmaceuticals. Marinus is a huge supporter of the IFCR and managed the trial of Ganaxalone. 1 of the 5 trials that have been made available for our kids…all 5 of which Tanner has participated in, with the final and newest one being the only one that has truly made a difference! But many kids are showing improvements on all of them.
5 trials in the past 6 years, for a disorder no ones ever heard of and as of Tanner’s diagnosis in 2014, less than 1000 patients even existed! That’s remarkable!
But nonetheless, a cure is the only path forward.
We also heard about the genetic trials, which we originally thought would be ready by this year. I sat down with a representative of Ultragenex. That’s the pharmaceutical company, as far as I know, closest to finding our cure. In their speeches, they all seemed to dance around the answers to what most of our questions would be, but you all know me pretty well. I needed a one on one, so I got it. I asked some very blunt questions, although I already had a good idea of the answers, I needed confirmation.
When this gets to human trial, in phase 1, will it only be open for girls? The answer is likely yes. with only 1-% of patients being male, they need a broader audience and a higher success rate. That part is me talking, not them.
What is the timeline of events as we stand right now? we need more animal testing to get dosing correct, which puts us another 6-12 months out. Then FDA approval. So likely a few years in total.
I left feeling pretty heartbroken, but always thankful for the truth. I can’t fight for Tanner without the realistic truth. Bottom line, results so far from animal tests of the genetic therapy have been positive. The Rett Foundation is currently in clinical trials on kids and showing positive results! But there have bene some genetic therapy trials where kids have died and I don’t know the details surrounding those, but obviously no one wants to take that chance. So they are crossing all T’s and dotting all I’s.
If I’ve learned anything from Tanner and CDKL5, it’s that I just can’t control everything. And I can’t control this. 9 CDKL5 kids have died since this time last year. 9. Some of the kids on our banner by the door are no longer alive. I’m just keeping it real. But guess what? I am a fighter. Brian is a fighter. Tanner is the biggest fighter I know! he’s going to fight this and survive until his cure comes. My boss told our sales team one time that whoever is up against Courtney doesn’t’ have a fighting chance. I’ve never lost a competition I put my mind to and I’ll do whatever it takes to get Tanner the cure he deserves!
Please know that your money and support are making a difference. Now, when families hear the words, “your child has CDKL5”, it is backed with:
It’s one of the most common causes of Epilepsy.
There are several clinical trials your child may be able to join.
There is much research going on and disease modifying treatments in development.
Real progress leads to real hope.
There are tens of thousands of patients in the world.
Real progress requires our community to remain engaged.
When Tanner was diagnosed we were told by doctors that they didn’t know much, this must be terrible news, I’m so sorry and don’t google it.
Wow!! What a difference 10 years has made and that’s all thanks to each and every one of you! Spread awareness! Talk about Tanner. Talk about CDKL5. Donate and help raise money. If we all continue to do that, Tanner will get his cure! I know it!
Thank You!