I named my goal JLK-247 and it can’t be taken from me.
I see clearly now, and it feels good, I feel good. All the parts have come together to form a map and I can’t wait to get where I’m going. Once I get there I won’t stay long, I’ll be off to live my life, free from that which binds me.
The translation: Sanfilippo binds me and I’m going to the clinic with JLK-247 to get rid of it. Then Jeremy, Jonah and I will travel on living happily ever after.
I love looking at the map, I made a vision board for 2021-2022. I have a lot of mile markers on the board and I’m anxious to tick them off. The rendering of our vector is there too, it contains all the components that make up JLK-247, plasmids, capsid, AAV9, HGSNAT, a promoter and some other stuff. It’s beautiful, when we’re done, I’ll have it tattooed on my back.
This year has been one disaster after another. These disasters are of our own making and they’re not going to go away by ignoring them, they’re just going to get worse and worse. Could 2020 get any worse? You bet it can! The solution starts with us, it’s time for people to get over themselves and start thinking about someone else. I’m hoping you won’t think about how much you hate the other person, but how you might come to know each other.
I have one huge agenda that consumes me, but I can’t ignore the bigger picture. Why cure Sanfilippo and save our kids to have them live in an infested world of hate, plague and decay? This is a rhetorical question. I love earth and people; I have faith that we’ll figure it out. It will take a lot of work, but it will be worth it.
JLK-247 is what I named the drug that we’re making. JLK stands for Jillian, Lindsey and Kelsey, three sisters who should be graduating from college, starting careers and families of their own. I think about this family all the time and how their parents care for them 247. It’s not my place to share the private lives of this family, I can share mine instead and you can times that by three.
No school and remote learning brought our family to the edge of the cliff. Jonah just couldn’t settle in, computers to Jonah are not meant for learning, they’re meant for entertainment. He’d have his good sessions and bad sessions, where he’d listen and follow instruction or not. The nightmare was with the technology, if the computer didn’t load fast enough or it crashed, any technical issue sent Jonah off on a rage. He took his frustration with the technology out on Jeremy and me. It was all our fault that it wasn’t working. He beat on us, he threw things at us, he screamed on the top of his lungs. All we could do was hide and try to get out of his way until he came down.
If I lived next to us, I’d either move or call the cops. I ran into my next-door neighbor the other day, when I say next door, we share a wall. She asked me how we were doing with such kind eyes, full of sympathy, I wanted to hug her for her understanding. I said, you know how we’re doing you’ve had to listen to us all summer. She didn’t try to pretend like she hadn’t heard us, instead she said she was sorry that she feels helpless and wants to help somehow. Now this is a person that cares about her neighbors. We are so lucky to have her as a neighbor. Meanwhile the apartment below us has had three families move in and out over the 4 years that we have lived there. This last family just moved out, I checked the door handle this morning and it’s open. I’m going to go in and have Jonah run around upstairs to see how bad it is. Is it just a coincidence that 3 families moved out from under us?
For whatever reason, Jonah just stopped hitting us. The rage is gone, he still gets angry, but he doesn’t go after us. It’s like a switch was flipped and he can now control himself. It makes no sense, but I’ll take it! In retrospect, his ear was filled with oozing gunk for the majority of the summer which could have contributed to his behavior.
Jonah has not gotten out much since COVID a normal summer would have him in camp during the weekday and at the playground on the weekend. Every weekend he walks to the office with me, where he gets to watch T.V. all day. He’s here with me now. On one of these walks, I noticed that his gait had changed. Jonah is walking on the inside of his feet and his knees are turned in. I need to get him into the orthopedist and see about some braces. How fast will he lose his mobility? Most Sanfilippo kids his age, have wheelchairs for outings. This weekend thing started by giving Jeremy a break, Jeremy has been doing all the home schooling, which is going to start up again tomorrow. For now, it’s one week at school and the next week remote learning. I’m actually not that concerned about sending Jonah back to school. He only has a handful of kids in his class and on his buss. His teachers are not run of the mill teachers, they’re highly trained specialists. They have had experience with numerous medically fragile children, I have confidence in them. I also have confidence in the parents of the other children. I don’t believe that any of the parents from this school would put another child’s health at risk. We’re all ‘special’ kids here and we appreciate that. Furthermore, what’s happening to Jonah’s intellect and body supersedes the fear of COVID.
My goal is to be in the clinic by October 2022. My heart lifts every time I say that. I have never been able to say a date with such conviction. I know it can be done if and only if the funds come in. We’re working with a not for profit called the Columbus Children’s Foundation, the foundation was co-founded by Jude Samulski’s company, Asklepios, Viralgen and Columbus Venture Partners. The mission of the foundation is to help people like me accelerate gene therapy. Asklepios reassembled our vector for us last year, when we decided to grade up from a single strand vector to a self-complimentary vector. Asklepios works hand in hand with Viralgen, Viralgen is the vector core plant that is manufacturing our vector for us. The Columbus Foundation acts as our broker, they negotiate the cost of our vector with Viralgen and Phoenix Nest pays the Foundation. The exact price of our vector production is confidential, but I can tell you this, we are saving 3.5 million dollars and just as importantly we will be expedited to the front of the line! No waiting in a line shaves off a year! A year can mean losing the skill of walking.
Every piece of this puzzle that we have been able to foresee has been sorted out. All of our ‘vendors’ have been contracted our statement of work agreements have been sorted, the investigators and sites have been chosen. The interventional trial design is a work in progress, we have designed the Natural History Study protocol, which will be the lead in study to the interventional trial. That data derived from the NHS will decide the course of the interventional trial. The NHS is a 2yr study the kids will go in 3 times, first will be the base line, the second will be a year later, the same procedures from baseline will be conducted again. The last visit will be right before the interventional trial. We will have three data points in which to compare the ‘on drug’ data to. The NHS is the control arm. On my vision board, I have the goal of the first child enrolling into the NHS this October. You see the interventional trial with JLK-247 can’t start until the NHS i.e. the control arm is completed! The pressure is on. I just can’t stand waiting anymore, it’s figuratively killing me and is literally killing the kids.
How will we pay for this? Grants, V.C., not-for-profit fundraising and a whole lot of pro-bono work. These resources are all on my vision board too. I finished my pitch deck and sent it off to a VC last week, we have three grants in now and will be submitting a fourth late October. We should know by November if we scored high enough for funding, April is the earliest that we would receive any funding. For transparency sake one of the grants is for our IIID program, 2 are for small molecule programs that could translate to all four subtypes and the 4th one going in in October is for our gene therapy program. We can’t write 4 grants on the same subject and send them all to the NIH for funding. They have to be different approaches and they’re all going to different grant calls but the same funding source.
I have been training for an ultra-walk fundraiser apply named ‘Step-Up’ that is happening in Philly on October 11th. It’s a Rocky theme. I watched Rocky for the very first time, last month. I actually didn’t realize that I had never watched it. It’s a timeless movie that penetrated our culture so well that I thought I had seen it firsthand. I can’t believe how much I loved it! My next blog is going to be all about Rocky and the symbolism of this walk. I’d love it if you watched the Rocky movie and joined my team. If you can’t do either of those things, you can donate or share to someone else that might want to be part of this thing. It’s all about changing what you can to make the world a better place for everyone.
BTW the line: The goal that was named cannot be countermanded. Came from Walt Whitman’s poem the ‘Song of the Open Road’.
Jonah's back to school haircut, he's starting 7th grade tomorrow!
