It is no secret that I have high expectations for Trofinetide, I fully expect Katelin will speak; I fully expect her to be able to read and write; I expect that she will be calm, well she is Irish, so calm until she gets her Irish up. 😉 In essence, I expect her to have a brand new life. Maybe not QUITE the life that was stolen from her as a baby, but a life far better than Rett syndrome tried to leave her with. There are many people to thank for that- Acadia Pharmaceuticals for believing this was a gamble worth pursuing; Neuren Pharmaceuticals and the stock-holders who saw the potential and invested SO MUCH time and effort in getting this to Katelin’s trial and for so much more than that- for caring so much about my girl, and all our children. But, it all had to start somewhere, and the place it started with was the lab Margaret Brimble worked in.
Margaret invented Trofinetide nearly 20 years ago. That would’ve been right about the time Katelin finally had the gene testing for Rett syndrome and had it come up positive. I wish I had known, had felt in that moment of “Eureka” there was hope. But, Margaret knew. She tells me quite a story of how one of the investors for NNZ-2566 (initially designed for TBI) had a child with Rett syndrome, not knowing at that time so many years ago, he had just invested in a treatment for the very thing that was affecting his family so significantly.
I “met” Margaret on-line years ago after I did a blog post “What’s in a Name”. I received the following comment: “I am the mother of trofinetide -we made it for Neuren in our lab at Auckland university; I was brought to tears when I read this article.
I am so glad I did medicinal chemistry for a career, better than being a clinician- we get to try to make magic treatments for dreadful diseases like Rett syndrome.”
Since that day, we’ve kept up a correspondence and FINALLY, after years and awards that have piled up for her, including recently being made a Dame and on August 27, 2019, being inducted into the Medicinal Chemistry Hall of Fame in San Diego, we were to meet!
I had it all planned out! HA HA Otherwise known as “the best laid plans of mice and men”, we were to arrive at the hotel around 4pm, get Katelin dressed, meet her husband, Mark, and have a leisurely few minutes before going into the ceremony. Well due to a nearly 5 hour drive, instead of 2, to San Diego, needing to stop to feed a very loud, hungry child, none of that happened. We missed the ceremony, Katelin was not nearly as neat and clean as I wished, but I did throw a clean shirt over her for our picture, lol. If that doesn’t sum up the life of a special needs family, I don’t know what does!
From there on out, though, it was surreal. I have been wishing to meet Margaret for so long, I have often wondered what kind of fool I would make of myself. How many times can you say “thank you”? I even had my stepdaughter, Andrea, give me eyelash extensions so if I cried, mascara would not run down my face. Yet, when I met her, it was like two old friends meeting after a long parting. I held the hug a little long, I’m sure, and I had the urge to hold her hand, as if that would keep her there just a little longer; my heart surely knew I would miss her the moment she was gone. It was JUST like friends catching up- funny stories, what the kids are up to, what’s next. There was not one moment of awkwardness, not even when Katelin decided the night had gone on long enough and I had to jump up and get her out of the restaurant. What a gift- to spend the night with people who, never having met us in person, made no judgement whatsoever when it came to whatever had to be done to make Katelin feel comfortable and happy. There was so little time and so much to say, so much unsaid, but PERFECT in every way-a night I will remember for all my life.
Since we missed the presentation, she gave us a quick overview of her slides and there was Katelin wearing a Trofinetide necklace. When Katelin saw herself, she clapped her hands. She knew this was a big moment for both of us and was as good as gold right up until she was ready to go to bed! And, since Katelin had been in Margaret’s presentation, person after person came up to meet her- scientists, Hall of Famers, students, a microcosm of the scientific community that influences the lives of our children in ways we cannot imagine. One surprise that left me star struck was meeting Bruce Maryanoff, the inventor of Topomax. I have to admit, I think he was slightly taken aback when I hugged him and thanked him for helping so many of our children.
I learned so much about the twisting, turning path that has brought Trofinetide to our doorstep and it has been quite a journey. One of the things that Margaret shared was a photo of healthy volunteers lining up to get NNZ-2566, the first people EVER. How brave they were.
I also learned that her husband, Mark Brimble, is a bonafide genius, writing the software that allows computers to translate the different languages around the world and allow the connections that make the World Wide Web actually worldwide. (Knowing this makes me feel better about not understanding a word of a seminar I attempted to watch)
It’s taken a couple of days to really reflect on this whole experience and I will try and put into words what I’ve learned or rather had reinforced in a way I could not have imagined.
Every drug, piece of equipment, method of therapy our children use began with a single person or team. While it’s easy to focus on the company that promotes them, behind each of these is a name and a face that will largely go unrecognized or unknown. The world owes a great debt to these people. I feel beyond fortunate to have met some of these people, to hear their stories and to come to know that they are, in many ways, just like us; they gather to celebrate those that deserve recognition, hang around and toast to successes and are generous and so kind to make one child feel like they are a superstar and among a room full of giants in science made Katelin out to be a giant among them. It was a meeting worth 4 years in the making and 5 hours on the road.
Thank you, Margaret, the Rett community at large is also grateful for your contribution from the bottom of our hearts.
I want to thank the American Chemical Society-Medicinal Chemistry Division for making allowances in an effort to make sure we could be present and for being so welcoming and kind to Katelin.
PS: they all loved Flynn, too. 😉