When Tanner was 3 months old, after sharing our thoughts with the pediatrician that Tanner was having seizures, we were sent straight to the hospital. They admitted us and set tanner up on an EEG and told us to click the red button if he starts to seize. We were in the hospital for a week during this visit. I can’t remember what I ate for breakfast this morning, but I remember every second of every day, during this week. I remember Tanner seizing while on the leads, pressing the button and while already very emotional, within seconds the room was filled with doctors and nurses, making a huge fuss over this seizure. I remember my stepmom Carma sitting in the chair next to me crying. I remember seeing Brian’s stepdad pacing the halls outside the room and his mom telling me later that he just couldn’t take it. He couldn’t be in the room.
I remember Halloween night 2014. I remember my next door neighbor Megan coming into my house asking what she can do while the ambulance was on its way and rounding up Pippen. I remember Brian putting Tanner’s tiny, frail, helpless body into his car seat and EMS putting the car seat on the stretcher, as his body was still seizing and shaking from head to toe. I remember EMS not allowing me in the back of the ambulance with Tanner because I was so hysterical, so they put me in the passenger seat. I remember Kelly holding my hand thru the window, while I sat in the ambulance, praying with me. I remember Allison calling me on the way to the hospital giving me the advise I needed, that Tanner needed his mom and he needed me to be strong. I remember watching them try to get an IV into a vein in the emergency room that I shouldn’t have been allowed to watch and don’t care to go into the horrific details of now.
I remember when Tanner got pneumonia and had to stay in the hospital and I was still nursing Brox and had to make a decision for the first time of which child to stay with. As much as Brian would have been willing to sleep in the hospital with Tanner in the past, I’d never let him. And I didn’t this time either. But that decision hurt my heart a little.
I remember last year when Tanner got the Flu and for 2-3 days, our stomachs were in knots, he needed round the clock care, day and night, constant oxygen, and for the first time since that ambulance ride in 2014, I was scared this could be it.
I have a lot of good memories from the past as well but those come and go and often need to be triggered with pictures. But the memories above will never go away. For the first time in 9 years though, the positive now outweighs the negative! I can rarely remember a specific smile Tanner has had, other than his very first one, because they have been so few and far between, but not anymore! Tanner has had the best year to year and a half of his life! We’ve seen more smiles in this past year than we have in his whole life! He makes purposeful choices, he plays (purposefully), we think he moves his left hand for “yes” and “hi” and He’ll make eye contact with us. He sometimes smiles just at the sound of my voice, but he almost always smiles at the sound of Brian’s! We have dance parties with him which he clearly looks to be enjoying. I’ve seen him bond with Brian in a way I never thought I’d see and our Nurse Rhonda would swear on her life that he said her name!
We started a new medication in January of 2022 and it’s the only one that has worked for Tanner, ever! His seizures have been cut in half in terms of the amount he’s having in a day and the length of time each is lasting. If a pharmaceutical medication could make this happen, just imagine what a genetic therapy could do! We are still waiting for FDA approval for the CDKL5 gene therapy, but the Rett trials are underway and results are positive! Rett is the sister disorder to CDKL5. In fact, the very first CDKL5 convention we attended was also with the Rett community and specialists. The key differences between the 2 are seizures (our kids have them and rett does not), and most rett kids are born typical and over time, they start to lose the ability to walk and talk, etc… Our kids are typically born without many abilities. The gene therapy for Rett was dosed to a patient in Canada as their trial began, and the trials in the US will start screening late fall of this year! I believe 5 girls between the ages of 5-10 will be chosen for this trial phase in the US. The results of this 1 patient who received the gene therapy have finally come out and I quote “Impressive efficacy in the first participant has been reported, including a 2-point change of “much improved” on the rating scale.” This is based on the physician and parent notations. NO SAFETY CONCERNS HAVE BEEN IDENTIFIED!
I see no reason why our trial will not be approved and move forward based on these results. It took millions of dollars, a lot of loud parents, researchers and scientists fighting hard and many years to get to this point, but I truly think we are here! Now it’s just a waiting game and a lot of praying that when the CDKL5 trials begin, they don’t limit it to girls only or specify an age range that excludes Tanner. If they do, we may need to wait until phase 2, which could be another couple of years.
As a reminder, the gene therapy they’ve created is a positive, working copy of the CDKL5 gene. If their brain receives the gene and can function off of it, what does that mean? To me, although very hopeful, that means that our kids could learn how to do everything, just like a baby can! If you want to see and witness a real miracle then please pray Tanner is able to get this gene therapy sooner rather than later!